Name

Iris hypoplasia and glaucoma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Iris hypoplasia and glaucoma from the curated CTD Gene-Disease Associations dataset.

iris hypoplasia and glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the iris hypoplasia and glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aplasia/hypoplasia of the iris Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the iris Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

iris stroma hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iris stroma hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iris hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iris hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

glaucoma, angle-closure; glaucoma, open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, angle-closure; glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, primary open-angle; glaucoma, primary congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, primary open-angle; glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, open-angle; low tension glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, open-angle; low tension glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, primary open-angle; glaucoma, normal tension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, primary open-angle; glaucoma, normal tension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma; glaucoma, open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma; glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cataract; exfoliation syndrome; glaucoma; glaucoma, open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cataract; exfoliation syndrome; glaucoma; glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, open-angle; low tension glaucoma; ocular hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, open-angle; low tension glaucoma; ocular hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma; glaucoma, primary open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma; glaucoma, primary open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma phenotype from the curated OMIM Gene-Disease Associations dataset.

Iris coloboma with ptosis, hypertelorism, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

retinol dystrophy, iris coloboma, and comedogenic acne syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinol dystrophy, iris coloboma, and comedogenic acne syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset.

mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

BRCA1-IRIS-pre-replication complex Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-IRIS-pre-replication complex protein complex from the CORUM Protein Complexes dataset.

Iris Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Iris in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

iris disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease iris disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

malignant iris melanoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease malignant iris melanoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

iris cancer Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease iris cancer in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

iris disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease iris disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

iris Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iris in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iris color Gene Set

From GAD Gene-Disease Associations

genes associated with the disease iris color in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

iris Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term iris in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

iris morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the iris morphogenesis biological process from the curated GO Biological Process Annotations dataset.

Iris color Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Iris color phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Iris characteristics Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Iris characteristics phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

iris disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease iris disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

abnormality of the iris Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the iris phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormal iris pigmentation Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormal iris pigmentation phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

iris coloboma Gene Set

From HPO Gene-Disease Associations

genes associated with the iris coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal iris vasculature Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal iris vasculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the iris Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the iris phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplastic iris stroma Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplastic iris stroma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

iris atrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the iris atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

iris hypopigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the iris hypopigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal iris pigmentation Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal iris pigmentation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

iris coloboma Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iris coloboma phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iris synechia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iris synechia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris pigment epithelium Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris pigment epithelium phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

anterior iris synechia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the anterior iris synechia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iris atrophy Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the iris atrophy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris stromal pigmentation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris stromal pigmentation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal iris stroma morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal iris stroma morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

iris Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue iris from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

iris dilator muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue iris dilator muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

iris sphincter muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue iris sphincter muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

iris smooth muscle Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue iris smooth muscle in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

iris Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue iris in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds Gene Set

From Reactome Pathways

proteins participating in the Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds pathway from the Reactome Pathways dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and presenile cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fibular hypoplasia and complex brachydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and anterior segment dysgenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Foveal hypoplasia and anterior segment dysgenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Skeletal defects, genital hypoplasia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fibular hypoplasia and complex brachydactyly Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Fibular hypoplasia and complex brachydactyly from the curated CTD Gene-Disease Associations dataset.

Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset.

Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset.

Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset.

Foveal Hypoplasia and Anterior Segment Dysgenesis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Foveal Hypoplasia and Anterior Segment Dysgenesis from the curated CTD Gene-Disease Associations dataset.

isolated congenital pituitary hypoplasia and septo-optic dysplasia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease isolated congenital pituitary hypoplasia and septo-optic dysplasia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aplasia/hypoplasia involving the femoral head and neck Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the femoral head and neck phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

skeletal defects, genital hypoplasia, and mental retardation Gene Set

From OMIM Gene-Disease Associations

genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated OMIM Gene-Disease Associations dataset.

mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis Gene Set

From OMIM Gene-Disease Associations

genes associated with the foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis phenotype from the curated OMIM Gene-Disease Associations dataset.

optic nerve hypoplasia and abnormalities of the central nervous system Gene Set

From OMIM Gene-Disease Associations

genes associated with the optic nerve hypoplasia and abnormalities of the central nervous system phenotype from the curated OMIM Gene-Disease Associations dataset.

?breasts and/or nipples, aplasia or hypoplasia of, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?breasts and/or nipples, aplasia or hypoplasia of, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset.

Glaucoma 1, open angle, e Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glaucoma 1, open angle, e phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glaucoma 1, open angle, O Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glaucoma 1, open angle, O phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glaucoma 1, open angle, F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glaucoma 1, open angle, F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glaucoma 1, open angle, G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glaucoma 1, open angle, G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glaucoma, primary open angle, juvenile-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glaucoma, primary open angle, juvenile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary open angle glaucoma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary open angle glaucoma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoexfoliation glaucoma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoexfoliation glaucoma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary open angle glaucoma juvenile onset 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary open angle glaucoma juvenile onset 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glaucoma, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glaucoma, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glaucoma-Related Pigment Dispersion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma-Related Pigment Dispersion Syndrome from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, primary infantile, B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, primary infantile, B from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, J Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, J from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, N Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, N from the curated CTD Gene-Disease Associations dataset.

GLAUCOMA 1, OPEN ANGLE, B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLAUCOMA 1, OPEN ANGLE, B from the curated CTD Gene-Disease Associations dataset.

GLAUCOMA 3, PRIMARY CONGENITAL, C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLAUCOMA 3, PRIMARY CONGENITAL, C from the curated CTD Gene-Disease Associations dataset.

Glaucoma, Primary Open Angle Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma, Primary Open Angle from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, I from the curated CTD Gene-Disease Associations dataset.

Glaucoma Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, K Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, K from the curated CTD Gene-Disease Associations dataset.

GLAUCOMA 1, PRIMARY OPEN ANGLE, C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLAUCOMA 1, PRIMARY OPEN ANGLE, C from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, Primary Congenital, D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, Primary Congenital, D from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, Primary Congenital, A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, Primary Congenital, A from the curated CTD Gene-Disease Associations dataset.

Glaucoma, Open-Angle Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma, Open-Angle from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, H Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, H from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, M Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, M from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, O Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, O from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, A from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, D Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, D from the curated CTD Gene-Disease Associations dataset.

Glaucoma 1, Open Angle, G Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 1, Open Angle, G from the curated CTD Gene-Disease Associations dataset.

Glaucoma, Angle-Closure Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma, Angle-Closure from the curated CTD Gene-Disease Associations dataset.

GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO from the curated CTD Gene-Disease Associations dataset.

Glaucoma, Open-Angle Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Glaucoma, Open-Angle in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Glaucoma Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Glaucoma in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

glaucoma Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease glaucoma from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

glaucoma Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease glaucoma in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

glaucomatocyclitic crisis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease glaucomatocyclitic crisis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

phacolytic glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease phacolytic glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

borderline glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease borderline glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

primary angle-closure glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease primary angle-closure glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

interval angle-closure glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease interval angle-closure glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

low tension glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease low tension glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

phacogenic glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease phacogenic glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

open-angle glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease open-angle glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

juvenile glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease juvenile glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

chronic closed-angle glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease chronic closed-angle glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

primary open angle glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease primary open angle glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

angle-closure glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease angle-closure glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

neovascular glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease neovascular glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

acute closed-angle glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease acute closed-angle glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

steroid-induced glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease steroid-induced glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

primary congenital glaucoma Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease primary congenital glaucoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

primary congenital glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease primary congenital glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, angle-closure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, angle-closure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, primary open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, primary open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

normal tension glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease normal tension glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, normal tension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, normal tension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, open-angle; hydrophthalmos Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, open-angle; hydrophthalmos in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; glaucoma, open-angle; mitochondrial diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; glaucoma, open-angle; mitochondrial diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

exfoliation syndrome; glaucoma, open-angle; pigmentation disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease exfoliation syndrome; glaucoma, open-angle; pigmentation disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cataract; exfoliation syndrome; glaucoma, open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cataract; exfoliation syndrome; glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, open-angle; vision disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, open-angle; vision disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, open-angle; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, open-angle; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

exfoliation syndrome; glaucoma, open-angle; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease exfoliation syndrome; glaucoma, open-angle; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

low tension glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease low tension glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

exfoliation syndrome; glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease exfoliation syndrome; glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

disorder of the optic nerve; glaucoma, open-angle; optic nerve diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disorder of the optic nerve; glaucoma, open-angle; optic nerve diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, primary congenital Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, primary congenital in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

wide-angle glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease wide-angle glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

primary open angle glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease primary open angle glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

open-angle glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease open-angle glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, early-onset Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, early-onset in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

exfoliation syndrome; glaucoma; hyperhomocysteinemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease exfoliation syndrome; glaucoma; hyperhomocysteinemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma (exfoliation) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma (exfoliation) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; glaucoma, open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bradycardia; glaucoma, open-angle; ocular hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bradycardia; glaucoma, open-angle; ocular hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

exfoliation syndrome; glaucoma, open-angle Gene Set

From GAD Gene-Disease Associations

genes associated with the disease exfoliation syndrome; glaucoma, open-angle in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye abnormalities; glaucoma, angle-closure Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye abnormalities; glaucoma, angle-closure in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pseudoexfoliative glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pseudoexfoliative glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

disorder of the optic nerve; glaucoma, open-angle; ocular hypertension; optic nerve diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease disorder of the optic nerve; glaucoma, open-angle; ocular hypertension; optic nerve diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma, open-angle; ocular hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glaucoma, open-angle; ocular hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

primary open-angle glaucoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease primary open-angle glaucoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glaucoma Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term glaucoma in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

glaucomaassociated Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term glaucomaassociated in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

glaucomatous Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term glaucomatous in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Glaucoma_Retina_GSE3554 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Glaucoma_Retina_GSE3554 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Glaucoma Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Glaucoma phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Glaucoma (primary open-angle) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Glaucoma (primary open-angle) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Exfoliation glaucoma or exfoliation syndrome Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Exfoliation glaucoma or exfoliation syndrome phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

phacogenic glaucoma Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease phacogenic glaucoma in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

open-angle glaucoma Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease open-angle glaucoma in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

glaucoma Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease glaucoma in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

congenital glaucoma Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the congenital glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

primary open angle glaucoma Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the primary open angle glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

primary congenital glaucoma Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the primary congenital glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

glaucoma Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the glaucoma phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

primary open angle glaucoma Gene Set

From HPO Gene-Disease Associations

genes associated with the primary open angle glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

primary congenital glaucoma Gene Set

From HPO Gene-Disease Associations

genes associated with the primary congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

late onset congenital glaucoma Gene Set

From HPO Gene-Disease Associations

genes associated with the late onset congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

congenital glaucoma Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

glaucoma Gene Set

From HPO Gene-Disease Associations

genes associated with the glaucoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Low Tension Glaucoma Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Low Tension Glaucoma phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Glaucoma Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Glaucoma phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Glaucoma, Open-Angle Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Glaucoma, Open-Angle phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Glaucoma, Angle-Closure Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Glaucoma, Angle-Closure phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

glaucoma 1, open angle, 1o Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, 1o phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1b, primary open angle, adult onset, Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1b, primary open angle, adult onset, phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1a, primary open angle Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1a, primary open angle phenotype from the curated OMIM Gene-Disease Associations dataset.

{glaucoma, normal tension, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {glaucoma, normal tension, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1, open angle, i Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, i phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1, open angle, p Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, p phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1, open angle, h Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, h phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1, open angle, m Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, m phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1, open angle, n Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, n phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1, open angle, e Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, e phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1, open angle, f Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, f phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1, open angle, g Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1, open angle, g phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 3, primary congenital, d Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 3, primary congenital, d phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 3, primary congenital, c Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 3, primary congenital, c phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1c, primary open angle Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1c, primary open angle phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1k, primary open angle, juvenile-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1k, primary open angle, juvenile-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 3a, primary open angle, congenital, juvenile, or adult onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 3a, primary open angle, congenital, juvenile, or adult onset phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 1d, primary open angle Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 1d, primary open angle phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 3, primary infantile, b Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 3, primary infantile, b phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP1B1 causes Glaucoma Gene Set

From Reactome Pathways

proteins participating in the Defective CYP1B1 causes Glaucoma pathway from the Reactome Pathways dataset.

basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression Gene Set

From Biocarta Pathways

proteins participating in the basic mechanism of action of ppara pparb(d) and pparg and effects on gene expression pathway from the Biocarta Pathways dataset.

BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coloboma, uveal, with cleft lip and palate and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Diabetes mellitus AND insipidus with optic atrophy AND deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Diabetes mellitus AND insipidus with optic atrophy AND deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset.

Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation from the curated CTD Gene-Disease Associations dataset.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux from the curated CTD Gene-Disease Associations dataset.

Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations from the curated CTD Gene-Disease Associations dataset.

postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease postheparin plasma lipase activities body fat and plasma lipid and lipoprotein concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anxiety and hostility and depression Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anxiety and hostility and depression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease charcot-marie-tooth disease; hereditary motor and sensory neuropathies; hereditary sensory and motor neuropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

frontotemporal dementia and pick-like 3r and 4r tauopathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease frontotemporal dementia and pick-like 3r and 4r tauopathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adipose tissue lipoprotein lipase activity and lipoprotein lipid and glucose concentrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

squamous cell carcinomas of the head and neck (scchn) and breast cancer Gene Set

From GAD Gene-Disease Associations

genes associated with the disease squamous cell carcinomas of the head and neck (scchn) and breast cancer in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

vitamins and metabolites in pregnant women and neonates Gene Set

From GAD Gene-Disease Associations

genes associated with the disease vitamins and metabolites in pregnant women and neonates in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

racemase and epimerase activity, acting on amino acids and derivatives Gene Set

From GO Molecular Function Annotations

genes performing the racemase and epimerase activity, acting on amino acids and derivatives molecular function from the curated GO Molecular Function Annotations dataset.

racemase and epimerase activity, acting on carbohydrates and derivatives Gene Set

From GO Molecular Function Annotations

genes performing the racemase and epimerase activity, acting on carbohydrates and derivatives molecular function from the curated GO Molecular Function Annotations dataset.

leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation phenotype from the curated OMIM Gene-Disease Associations dataset.

hypomyelination with brainstem and spinal cord involvement and leg spasticity Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypomyelination with brainstem and spinal cord involvement and leg spasticity phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly, progressive, seizures, and cerebral and cerebellar atrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies phenotype from the curated OMIM Gene-Disease Associations dataset.

Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Gene Set

From Reactome Pathways

proteins participating in the Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S pathway from the Reactome Pathways dataset.

Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding Gene Set

From Reactome Pathways

proteins participating in the Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding pathway from the Reactome Pathways dataset.

PI and PC transport between ER and Golgi membranes Gene Set

From Reactome Pathways

proteins participating in the PI and PC transport between ER and Golgi membranes pathway from the Reactome Pathways dataset.

Orexin and neuropeptides FF and QRFP bind to their respective receptors Gene Set

From Reactome Pathways

proteins participating in the Orexin and neuropeptides FF and QRFP bind to their respective receptors pathway from the Reactome Pathways dataset.

FGFR1c and Klotho ligand binding and activation Gene Set

From Reactome Pathways

proteins participating in the FGFR1c and Klotho ligand binding and activation pathway from the Reactome Pathways dataset.

Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane Gene Set

From Reactome Pathways

proteins participating in the Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane pathway from the Reactome Pathways dataset.

Synthesis and processing of ENV and VPU Gene Set

From Reactome Pathways

proteins participating in the Synthesis and processing of ENV and VPU pathway from the Reactome Pathways dataset.

Synthesis and interconversion of nucleotide di- and triphosphates Gene Set

From Reactome Pathways

proteins participating in the Synthesis and interconversion of nucleotide di- and triphosphates pathway from the Reactome Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Homo sapiens) pathway from the Wikipathways Pathways dataset.

SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the SREBF and miR33 in cholesterol and lipid homeostasis(Mus musculus) pathway from the Wikipathways Pathways dataset.

SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the SRF and miRs in Smooth Muscle Differentiation and Proliferation(Homo sapiens) pathway from the Wikipathways Pathways dataset.

Focal dermal hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Focal dermal hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia type 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tibia, hypoplasia of, with polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tibia, hypoplasia of, with polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital adrenal hypoplasia, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital adrenal hypoplasia, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia, type 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia, type 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia type 2D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic nerve hypoplasia, bilateral Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic nerve hypoplasia, bilateral phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Splenic hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Splenic hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Olivopontocerebellar hypoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Olivopontocerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia, type 1b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia, type 1b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia, type 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia, type 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia type 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pontocerebellar hypoplasia, type 2e Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pontocerebellar hypoplasia, type 2e phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Focal Dermal Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Focal Dermal Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Cartilage-hair hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cartilage-hair hypoplasia from the curated CTD Gene-Disease Associations dataset.

Leydig Cell Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Leydig Cell Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Optic Nerve Hypoplasia, Bilateral Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Optic Nerve Hypoplasia, Bilateral from the curated CTD Gene-Disease Associations dataset.

Polymicrogyria With Optic Nerve Hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polymicrogyria With Optic Nerve Hypoplasia from the curated CTD Gene-Disease Associations dataset.

Pontocerebellar Hypoplasia Type 2C Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pontocerebellar Hypoplasia Type 2C from the curated CTD Gene-Disease Associations dataset.

Pontocerebellar Hypoplasia Type 2B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pontocerebellar Hypoplasia Type 2B from the curated CTD Gene-Disease Associations dataset.

ADRENAL HYPOPLASIA, CONGENITAL Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ADRENAL HYPOPLASIA, CONGENITAL from the curated CTD Gene-Disease Associations dataset.

Anophthalmia with pulmonary hypoplasia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anophthalmia with pulmonary hypoplasia from the curated CTD Gene-Disease Associations dataset.

Pontocerebellar Hypoplasia Type 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pontocerebellar Hypoplasia Type 6 from the curated CTD Gene-Disease Associations dataset.

PONTOCEREBELLAR HYPOPLASIA, TYPE 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PONTOCEREBELLAR HYPOPLASIA, TYPE 4 from the curated CTD Gene-Disease Associations dataset.

Pontocerebellar Hypoplasia Type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pontocerebellar Hypoplasia Type 1 from the curated CTD Gene-Disease Associations dataset.

Pontocerebellar Hypoplasia Type 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pontocerebellar Hypoplasia Type 3 from the curated CTD Gene-Disease Associations dataset.

Pontocerebellar Hypoplasia Type 2A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pontocerebellar Hypoplasia Type 2A from the curated CTD Gene-Disease Associations dataset.

focal dermal hypoplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease focal dermal hypoplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

dental enamel hypoplasia Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease dental enamel hypoplasia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

focal dermal hypoplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease focal dermal hypoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cartilage-hair hypoplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cartilage-hair hypoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

pituitary hypoplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease pituitary hypoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

dental enamel hypoplasia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease dental enamel hypoplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cleft lip; cleft palate; dental enamel hypoplasia; enamel, hypoplastic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cleft lip; cleft palate; dental enamel hypoplasia; enamel, hypoplastic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypoplasia Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hypoplasia in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

aplasia/hypoplasia involving the central nervous system Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the aplasia/hypoplasia involving the central nervous system phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

aplasia/hypoplasia of the cerebrum Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the aplasia/hypoplasia of the cerebrum phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

retinal hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the retinal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of choroid Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of choroid phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia affecting the eye Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the fallopian tube Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the fallopian tube phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of lymphatic vessels Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of lymphatic vessels phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the musculature Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the uvula Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the uvula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the tragus Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the tragus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the nose Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the frontal sinuses Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the frontal sinuses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

parathyroid hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the parathyroid hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the lungs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the lungs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pancreatic hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the pancreatic hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the quadriceps Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the quadriceps phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the musculature of the upper arm Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the musculature of the upper arm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the scapulae Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the scapulae phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the ventral pons Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the ventral pons phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

glenoid fossa hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the glenoid fossa hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lymph node hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the lymph node hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the skin Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the skin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving bones of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of toe Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

posterior vertebral hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the posterior vertebral hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the lacrimal puncta Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the lacrimal puncta phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the pyramidal tract Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the pyramidal tract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving forearm bones Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving forearm bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the nasal bone Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the nasal bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the sternum Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the sternum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the optic nerve Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the optic nerve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the ovary Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the ovary phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the corticospinal tracts Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the corticospinal tracts phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of penis Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of penis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

optic disc hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the optic disc hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the tarsal bones Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the tarsal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the thymus Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the thymus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thyroid hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the thyroid hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the ulna Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the ulna phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving bones of the feet Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the feet phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the primary teeth Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the primary teeth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the biceps Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the biceps phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia affecting the fundus Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the fundus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia affecting the retina Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the retina phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the odontoid process Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the odontoid process phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

calf muscle hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the calf muscle hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the gallbladder Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the gallbladder phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the pelvis Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the pelvis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the mandible Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the mandible phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the epiglottis Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the epiglottis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of metatarsal bones Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of metatarsal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the uterus Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the uterus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

erythroid hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the erythroid hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the eyebrow Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the eyebrow phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the pons Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the pons phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the spleen Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the spleen phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

breast hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the breast hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the choroid Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the choroid phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the ciliary body Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the ciliary body phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the corpus callosum Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the corpus callosum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pulmonary hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the pulmonary hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebellar hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cerebellar hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving bones of the lower limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the brainstem Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the brainstem phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the bladder Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the bladder phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the triceps Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the triceps phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the pharynx Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the pharynx phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

macular hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the macular hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pectoralis hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the pectoralis hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

midclavicular hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the midclavicular hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

renal hypoplasia/aplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the renal hypoplasia/aplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the femoral head Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the femoral head phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mandibular condyle hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the mandibular condyle hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia affecting bones of the axial skeleton Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting bones of the axial skeleton phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

corticospinal tract hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the corticospinal tract hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 1st metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 1st metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

carpal bone hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the carpal bone hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal ulnar hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the distal ulnar hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the earlobes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the earlobes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the calcaneus Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the calcaneus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 4th metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 4th metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the radius Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the radius phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the cerebellar vermis Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the cerebellar vermis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of proximal fibula Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of proximal fibula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of deltoid muscle Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of deltoid muscle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the thymus Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the thymus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 2nd metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 2nd metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the skeleton Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the skeleton phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

renal hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the renal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the ulna Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the ulna phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the uterus Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the uterus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the humerus Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the humerus phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanx of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanx of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the palmar creases Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the palmar creases phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the maxilla Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the maxilla phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the ribs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the ribs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 1st metatarsal Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 1st metatarsal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the vertebral column Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the vertebral column phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

laryngeal hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the laryngeal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

lacrimal gland hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the lacrimal gland hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

frontal bone hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the frontal bone hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the metacarpal bones Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the metacarpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the nipples Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the nipples phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 5th metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 5th metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the capital femoral epiphysis Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the capital femoral epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the proximal phalanx of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the proximal phalanx of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the proximal phalanx of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the proximal phalanx of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the ear Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the diaphragm Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the diaphragm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving bones of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the premaxilla Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the premaxilla phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the cerebrum Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the cerebrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 3rd toe Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 3rd toe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the bladder Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the bladder phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia affecting the uvea Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the uvea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the sweat glands Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the sweat glands phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

unilateral breast hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the unilateral breast hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thoracic hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the thoracic hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the femur Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pectoralis major hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the pectoralis major hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

adrenal medullary hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the adrenal medullary hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia affecting the anterior segment of the eye Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the anterior segment of the eye phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of teeth Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of teeth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the nasal bone Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the nasal bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the middle phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the middle phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the testes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the testes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

labial hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the labial hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving bones of the thorax Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the thorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the maxilla Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the maxilla phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the optic tract Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the optic tract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the nails Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the nails phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the corpus callosum Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the corpus callosum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

inferior vermis hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the inferior vermis hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the brainstem Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the brainstem phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the abdominal wall musculature Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the abdominal wall musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the fovea Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the fovea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the cochlea Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the cochlea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the sinuses Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the sinuses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the semicircular canal Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the semicircular canal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the ear cartilage Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the ear cartilage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

external genital hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the external genital hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the vagina Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the vagina phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of first ribs Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of first ribs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebellar hemisphere hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cerebellar hemisphere hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

gonadal hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the gonadal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the extremities Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the nasal septum Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the nasal septum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

2nd-5th toe middle phalangeal hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the 2nd-5th toe middle phalangeal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the clavicles Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the clavicles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebellar vermis hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cerebellar vermis hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the sacrum Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the sacrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

adrenocortical hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the adrenocortical hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving bones of the skull Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the skull phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the ovary Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the ovary phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the musculature of the pelvis Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the musculature of the pelvis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

generalized cerebral atrophy/hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the generalized cerebral atrophy/hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the tibia Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the tibia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the prostate Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the prostate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of proximal radius Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of proximal radius phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the patella Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the patella phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the lesser trochanter Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the lesser trochanter phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the skeletal musculature Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the skeletal musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the central nervous system Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the central nervous system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia affecting the eyelid Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia affecting the eyelid phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the vagina Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the vagina phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

unilateral chest hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the unilateral chest hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the breasts Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the breasts phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

vertebral hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the vertebral hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the musculature of the extremities Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the musculature of the extremities phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shoulder muscle hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the shoulder muscle hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the pubic bone Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the pubic bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the pyramidal tract Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the pyramidal tract phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the pancreas Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the pancreas phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cerebral hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the cerebral hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the cochlea Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the cochlea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the fovea Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the fovea phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

optic nerve hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the optic nerve hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the cervical spine Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the cervical spine phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the cerebellum Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the cerebellum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the carpal bones Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

adrenal hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the adrenal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hemifacial hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the hemifacial hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of dental enamel Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of dental enamel phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the lens Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the lens phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

anterior pituitary hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the anterior pituitary hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the external ear Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the external ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the shoulder musculature Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the shoulder musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the frontal lobes Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the frontal lobes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

scrotal hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the scrotal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the middle phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the middle phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the radius Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the radius phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the capital femoral epiphysis Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the capital femoral epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the vertebrae Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the vertebrae phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving the musculature of the upper limbs Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving the musculature of the upper limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

intestinal hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the intestinal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the fallopian tube Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the fallopian tube phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the tongue Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the tongue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

upper limb muscle hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the upper limb muscle hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

patellar hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the patellar hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the epiglottis Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the epiglottis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the colon Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the colon phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fibular hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the fibular hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the 3rd metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the 3rd metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pectoral muscle hypoplasia/aplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the pectoral muscle hypoplasia/aplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pulmonary artery hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the pulmonary artery hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the macula Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the macula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the abdominal wall musculature Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the abdominal wall musculature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

paranasal sinus hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the paranasal sinus hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

clitoral hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the clitoral hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the musculature of the thigh Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the musculature of the thigh phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the middle phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the middle phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the fibula Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the fibula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

olivopontocerebellar hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the olivopontocerebellar hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

axillary apocrine gland hypoplasia Gene Set

From HPO Gene-Disease Associations

genes associated with the axillary apocrine gland hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Dental Enamel Hypoplasia Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Dental Enamel Hypoplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

testis hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the testis hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

tongue hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the tongue hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

genital tubercle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the genital tubercle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

lymphoid hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the lymphoid hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

palatine bone horizontal plate hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the palatine bone horizontal plate hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thyroid hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thyroid hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hindbrain hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hindbrain hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

midface hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the midface hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

intervertebral disk hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the intervertebral disk hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

lymph node hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the lymph node hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

aortic arch hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the aortic arch hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pituitary intermediate lobe hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pituitary intermediate lobe hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

temporal bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the temporal bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ischium hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ischium hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

oviduct hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the oviduct hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

spleen hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the spleen hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

radius hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the radius hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

otic vesicle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the otic vesicle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

malleus hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the malleus hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

maxilla hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the maxilla hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

uterine cervix hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the uterine cervix hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

adrenal gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the adrenal gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

palatal shelf hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the palatal shelf hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ventricle myocardium hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ventricle myocardium hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

leydig cell hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the leydig cell hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

mammary gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the mammary gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

scrotum hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the scrotum hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

diencephalon hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the diencephalon hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

cochlear ganglion hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the cochlear ganglion hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

frontal bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the frontal bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

head mesenchyme hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the head mesenchyme hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

myometrium hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the myometrium hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

papillary muscle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the papillary muscle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

cerebellum vermis hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the cerebellum vermis hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

sebaceous gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the sebaceous gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

premaxilla hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the premaxilla hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

atrium myocardium hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the atrium myocardium hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pulmonary hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pulmonary hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

female preputial gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the female preputial gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pharyngeal arch artery hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pharyngeal arch artery hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

epididymis hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the epididymis hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

parathyroid hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the parathyroid hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

olfactory bulb hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the olfactory bulb hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

aorta hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the aorta hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

heart hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the heart hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ethmoturbinate hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ethmoturbinate hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hyoid bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hyoid bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pituitary gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pituitary gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

parietal bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the parietal bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

axial mesoderm hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the axial mesoderm hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

mesangial cell hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the mesangial cell hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

liver hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the liver hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

palatine bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the palatine bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pancreas hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pancreas hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

gonial bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the gonial bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ear lobe hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ear lobe hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

conotruncal ridge hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the conotruncal ridge hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

adenohypophysis hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the adenohypophysis hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

renal hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the renal hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

alisphenoid bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the alisphenoid bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

vascular smooth muscle cell hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the vascular smooth muscle cell hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

hypaxial muscle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the hypaxial muscle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

basisphenoid bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the basisphenoid bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pterygoid bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pterygoid bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

endometrium hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the endometrium hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

vagina hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the vagina hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dorsal root ganglion hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the dorsal root ganglion hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

aorta tubular hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the aorta tubular hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

metacarpal bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the metacarpal bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

axial skeleton hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the axial skeleton hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

submandibular gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the submandibular gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

myocardial trabeculae hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the myocardial trabeculae hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

vas deferens hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the vas deferens hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

cerebellum hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the cerebellum hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

sinus venosus hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the sinus venosus hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

kidney medulla hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the kidney medulla hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pubis hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pubis hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ascending aorta hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ascending aorta hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

mandible hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the mandible hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

midbrain hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the midbrain hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

nasal bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the nasal bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

kidney cortex hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the kidney cortex hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

maxillary shelf hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the maxillary shelf hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

rathke's pouch hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the rathke's pouch hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

clavicle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the clavicle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

sertoli cell hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the sertoli cell hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

eyelid hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the eyelid hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

turbinate hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the turbinate hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

vertebral body hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the vertebral body hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pulmonary trunk hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pulmonary trunk hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pancreatic acinar hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pancreatic acinar hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

vestibular ganglion hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the vestibular ganglion hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

clitoris hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the clitoris hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

placental labyrinth hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the placental labyrinth hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pharyngeal arch hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pharyngeal arch hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ovary hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ovary hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

exocrine pancreas hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the exocrine pancreas hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ureter hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ureter hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

glossopharyngeal nerve hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the glossopharyngeal nerve hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

telencephalon hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the telencephalon hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

forebrain hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the forebrain hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

scapular bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the scapular bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pancreatic islet hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pancreatic islet hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

seminal vesicle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the seminal vesicle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pharynx hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pharynx hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

myocardium hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the myocardium hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

trachea hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the trachea hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thymus cortex hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thymus cortex hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

palate bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the palate bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ventricular myocardium compact layer hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ventricular myocardium compact layer hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inner ear hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inner ear hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

vomer bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the vomer bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

optic nerve hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the optic nerve hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

meibomian gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the meibomian gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ventricular hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ventricular hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

interparietal bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the interparietal bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

uterus hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the uterus hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

esophagus hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the esophagus hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

stomach hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the stomach hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

lateral prostate gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the lateral prostate gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

muscle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the muscle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

atrium hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the atrium hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

bulbourethral gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the bulbourethral gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

philtrum hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the philtrum hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

presphenoid bone hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the presphenoid bone hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

skeletal muscle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the skeletal muscle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

heart right ventricle hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the heart right ventricle hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

urinary bladder hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the urinary bladder hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

trabecula carnea hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the trabecula carnea hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

kidney papillary hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the kidney papillary hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

gonadal ridge hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the gonadal ridge hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pulmonary artery hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pulmonary artery hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

sternum hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the sternum hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

otic capsule hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the otic capsule hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

retina hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the retina hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

prostate gland hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the prostate gland hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thymus hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thymus hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pontocerebellar hypoplasia, type 2e Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia, type 2e phenotype from the curated OMIM Gene-Disease Associations dataset.

leydig cell hypoplasia with hypergonadotropic hypogonadism Gene Set

From OMIM Gene-Disease Associations

genes associated with the leydig cell hypoplasia with hypergonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia type 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia type 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

leydig cell hypoplasia with pseudohermaphroditism Gene Set

From OMIM Gene-Disease Associations

genes associated with the leydig cell hypoplasia with pseudohermaphroditism phenotype from the curated OMIM Gene-Disease Associations dataset.

hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism Gene Set

From OMIM Gene-Disease Associations

genes associated with the adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism phenotype from the curated OMIM Gene-Disease Associations dataset.

focal dermal hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the focal dermal hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia type 2c Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia type 2c phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia type 2b Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia type 2b phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia type 2a Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia type 2a phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia type 2d Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia type 2d phenotype from the curated OMIM Gene-Disease Associations dataset.

foveal hypoplasia 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the foveal hypoplasia 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

patella aplasia or hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the patella aplasia or hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia, type 1c Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia, type 1c phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia, type 1b Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia, type 1b phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia, type 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia, type 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

renal hypoplasia, isolated Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal hypoplasia, isolated phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia, type 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia, type 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia, type 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia, type 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia, type 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia, type 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

polymicrogyria with optic nerve hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the polymicrogyria with optic nerve hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

optic nerve hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the optic nerve hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

pontocerebellar hypoplasia type 1a Gene Set

From OMIM Gene-Disease Associations

genes associated with the pontocerebellar hypoplasia type 1a phenotype from the curated OMIM Gene-Disease Associations dataset.

cartilage-hair hypoplasia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cartilage-hair hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset.

metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly Gene Set

From OMIM Gene-Disease Associations

genes associated with the metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly phenotype from the curated OMIM Gene-Disease Associations dataset.

Basic cell groups and regions Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Basic cell groups and regions relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

head and face region of M1 Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in head and face region of M1 relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

telomeres telomerase cellular aging and immortality Gene Set

From Biocarta Pathways

proteins participating in the telomeres telomerase cellular aging and immortality pathway from the Biocarta Pathways dataset.

mcalpain and friends in cell motility Gene Set

From Biocarta Pathways

proteins participating in the mcalpain and friends in cell motility pathway from the Biocarta Pathways dataset.

role of ppar-gamma coactivators in obesity and thermogenesis Gene Set

From Biocarta Pathways

proteins participating in the role of ppar-gamma coactivators in obesity and thermogenesis pathway from the Biocarta Pathways dataset.

il12 and stat4 dependent signaling pathway in th1 development Gene Set

From Biocarta Pathways

proteins participating in the il12 and stat4 dependent signaling pathway in th1 development pathway from the Biocarta Pathways dataset.

hypoxia and p53 in the cardiovascular system Gene Set

From Biocarta Pathways

proteins participating in the hypoxia and p53 in the cardiovascular system pathway from the Biocarta Pathways dataset.

lissencephaly gene (lis1) in neuronal migration and development Gene Set

From Biocarta Pathways

proteins participating in the lissencephaly gene (lis1) in neuronal migration and development pathway from the Biocarta Pathways dataset.

role of erbb2 in signal transduction and oncology Gene Set

From Biocarta Pathways

proteins participating in the role of erbb2 in signal transduction and oncology pathway from the Biocarta Pathways dataset.

corticosteroids and cardioprotection Gene Set

From Biocarta Pathways

proteins participating in the corticosteroids and cardioprotection pathway from the Biocarta Pathways dataset.

cyclins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the cyclins and cell cycle regulation pathway from the Biocarta Pathways dataset.

mechanism of acetaminophen activity and toxicity Gene Set

From Biocarta Pathways

proteins participating in the mechanism of acetaminophen activity and toxicity pathway from the Biocarta Pathways dataset.

nfat and hypertrophy of the heart Gene Set

From Biocarta Pathways

proteins participating in the nfat and hypertrophy of the heart pathway from the Biocarta Pathways dataset.

acetylation and deacetylation of rela in nucleus Gene Set

From Biocarta Pathways

proteins participating in the acetylation and deacetylation of rela in nucleus pathway from the Biocarta Pathways dataset.

thrombin signaling and protease-activated receptors Gene Set

From Biocarta Pathways

proteins participating in the thrombin signaling and protease-activated receptors pathway from the Biocarta Pathways dataset.

antigen processing and presentation Gene Set

From Biocarta Pathways

proteins participating in the antigen processing and presentation pathway from the Biocarta Pathways dataset.

stathmin and breast cancer resistance to antimicrotubule agents Gene Set

From Biocarta Pathways

proteins participating in the stathmin and breast cancer resistance to antimicrotubule agents pathway from the Biocarta Pathways dataset.

role of ß-arrestins in the activation and targeting of map kinases Gene Set

From Biocarta Pathways

proteins participating in the role of ß-arrestins in the activation and targeting of map kinases pathway from the Biocarta Pathways dataset.

cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway Gene Set

From Biocarta Pathways

proteins participating in the cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway pathway from the Biocarta Pathways dataset.

role of pi3k subunit p85 in regulation of actin organization and cell migration Gene Set

From Biocarta Pathways

proteins participating in the role of pi3k subunit p85 in regulation of actin organization and cell migration pathway from the Biocarta Pathways dataset.

btg family proteins and cell cycle regulation Gene Set

From Biocarta Pathways

proteins participating in the btg family proteins and cell cycle regulation pathway from the Biocarta Pathways dataset.

control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) Gene Set

From Biocarta Pathways

proteins participating in the control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) pathway from the Biocarta Pathways dataset.

endocytotic role of ndk phosphins and dynamin Gene Set

From Biocarta Pathways

proteins participating in the endocytotic role of ndk phosphins and dynamin pathway from the Biocarta Pathways dataset.

regulation of eif-4e and p70s6 kinase Gene Set

From Biocarta Pathways

proteins participating in the regulation of eif-4e and p70s6 kinase pathway from the Biocarta Pathways dataset.

estrogen responsive protein efp controls cell cycle and breast tumors growth Gene Set

From Biocarta Pathways

proteins participating in the estrogen responsive protein efp controls cell cycle and breast tumors growth pathway from the Biocarta Pathways dataset.

vegf hypoxia and angiogenesis Gene Set

From Biocarta Pathways

proteins participating in the vegf hypoxia and angiogenesis pathway from the Biocarta Pathways dataset.

yaci and bcma stimulation of b cell immune responses Gene Set

From Biocarta Pathways

proteins participating in the yaci and bcma stimulation of b cell immune responses pathway from the Biocarta Pathways dataset.

lck and fyn tyrosine kinases in initiation of tcr activation Gene Set

From Biocarta Pathways

proteins participating in the lck and fyn tyrosine kinases in initiation of tcr activation pathway from the Biocarta Pathways dataset.

hiv-1 nef: negative effector of fas and tnf Gene Set

From Biocarta Pathways

proteins participating in the hiv-1 nef: negative effector of fas and tnf pathway from the Biocarta Pathways dataset.

nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells Gene Set

From Biocarta Pathways

proteins participating in the nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells pathway from the Biocarta Pathways dataset.

ucalpain and friends in cell spread Gene Set

From Biocarta Pathways

proteins participating in the ucalpain and friends in cell spread pathway from the Biocarta Pathways dataset.

ionomycin and phorbal ester signaling pathway Gene Set

From Biocarta Pathways

proteins participating in the ionomycin and phorbal ester signaling pathway pathway from the Biocarta Pathways dataset.

carm1 and regulation of the estrogen receptor Gene Set

From Biocarta Pathways

proteins participating in the carm1 and regulation of the estrogen receptor pathway from the Biocarta Pathways dataset.

phosphoinositides and their downstream targets Gene Set

From Biocarta Pathways

proteins participating in the phosphoinositides and their downstream targets pathway from the Biocarta Pathways dataset.

melanocyte development and pigmentation pathway Gene Set

From Biocarta Pathways

proteins participating in the melanocyte development and pigmentation pathway pathway from the Biocarta Pathways dataset.

akap95 role in mitosis and chromosome dynamics Gene Set

From Biocarta Pathways

proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset.

transcription factor creb and its extracellular signals Gene Set

From Biocarta Pathways

proteins participating in the transcription factor creb and its extracellular signals pathway from the Biocarta Pathways dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

the igf-1 receptor and longevity Gene Set

From Biocarta Pathways

proteins participating in the the igf-1 receptor and longevity pathway from the Biocarta Pathways dataset.

cdc25 and chk1 regulatory pathway in response to dna damage Gene Set

From Biocarta Pathways

proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset.

human cytomegalovirus and map kinase pathways Gene Set

From Biocarta Pathways

proteins participating in the human cytomegalovirus and map kinase pathways pathway from the Biocarta Pathways dataset.

influence of ras and rho proteins on g1 to s transition Gene Set

From Biocarta Pathways

proteins participating in the influence of ras and rho proteins on g1 to s transition pathway from the Biocarta Pathways dataset.

proteolysis and signaling pathway of notch Gene Set

From Biocarta Pathways

proteins participating in the proteolysis and signaling pathway of notch pathway from the Biocarta Pathways dataset.

apoptotic dna-fragmentation and tissue homeostasis Gene Set

From Biocarta Pathways

proteins participating in the apoptotic dna-fragmentation and tissue homeostasis pathway from the Biocarta Pathways dataset.

ion channels and their functional role in vascular endothelium Gene Set

From Biocarta Pathways

proteins participating in the ion channels and their functional role in vascular endothelium pathway from the Biocarta Pathways dataset.

alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease Gene Set

From Biocarta Pathways

proteins participating in the alpha-synuclein and parkin-mediated proteolysis in parkinson`s disease pathway from the Biocarta Pathways dataset.

fosb gene expression and drug abuse Gene Set

From Biocarta Pathways

proteins participating in the fosb gene expression and drug abuse pathway from the Biocarta Pathways dataset.

links between pyk2 and map kinases Gene Set

From Biocarta Pathways

proteins participating in the links between pyk2 and map kinases pathway from the Biocarta Pathways dataset.

opposing roles of aif in apoptosis and cell survival Gene Set

From Biocarta Pathways

proteins participating in the opposing roles of aif in apoptosis and cell survival pathway from the Biocarta Pathways dataset.

degradation of the rar and rxr by the proteasome Gene Set

From Biocarta Pathways

proteins participating in the degradation of the rar and rxr by the proteasome pathway from the Biocarta Pathways dataset.

cadmium induces dna synthesis and proliferation in macrophages Gene Set

From Biocarta Pathways

proteins participating in the cadmium induces dna synthesis and proliferation in macrophages pathway from the Biocarta Pathways dataset.

erk and pi-3 kinase are necessary for collagen binding in corneal epithelia Gene Set

From Biocarta Pathways

proteins participating in the erk and pi-3 kinase are necessary for collagen binding in corneal epithelia pathway from the Biocarta Pathways dataset.

role of brca1 brca2 and atr in cancer susceptibility Gene Set

From Biocarta Pathways

proteins participating in the role of brca1 brca2 and atr in cancer susceptibility pathway from the Biocarta Pathways dataset.

chrebp regulation by carbohydrates and camp Gene Set

From Biocarta Pathways

proteins participating in the chrebp regulation by carbohydrates and camp pathway from the Biocarta Pathways dataset.

pten dependent cell cycle arrest and apoptosis Gene Set

From Biocarta Pathways

proteins participating in the pten dependent cell cycle arrest and apoptosis pathway from the Biocarta Pathways dataset.

induction of apoptosis through dr3 and dr4/5 death receptors Gene Set

From Biocarta Pathways

proteins participating in the induction of apoptosis through dr3 and dr4/5 death receptors pathway from the Biocarta Pathways dataset.

CIITA-18437201-Raji B cells and iDC-human Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CIITA-18437201-Raji B cells and iDC-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the FOXP2-23625967-PFSK-1 AND SK-N-MC-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

VDR-23401126-LCL-AND-THP1-HUMAN Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the VDR-23401126-LCL-AND-THP1-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the YY1-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

BACH1-22875853-HELA-AND-SCP4-HUMAN Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the BACH1-22875853-HELA-AND-SCP4-HUMAN transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the EZH2-23942234-MYOBLASTS AND MYOTUBES-MOUSE transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

Hypothyroidism, central, and testicular enlargement Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypothyroidism, central, and testicular enlargement phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trifunctional protein deficiency with myopathy and neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, mental retardation, and seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Vater association with macrocephaly and ventriculomegaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Vater association with macrocephaly and ventriculomegaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal hamartomas nephroblastomatosis and fetal gigantism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal hamartomas nephroblastomatosis and fetal gigantism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microtia, hearing impairment, and cleft palate Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microtia, hearing impairment, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ichthyosis, spastic quadriplegia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypermanganesemia with dystonia, polycythemia and cirrhosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypermanganesemia with dystonia, polycythemia and cirrhosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined cellular and humoral immune defects with granulomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined cellular and humoral immune defects with granulomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined d-2- and l-2-hydroxyglutaric aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined d-2- and l-2-hydroxyglutaric aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sinoatrial node dysfunction and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sinoatrial node dysfunction and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation with language impairment and autistic features Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warts, hypogammaglobulinemia, infections, and myelokathexis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warts, hypogammaglobulinemia, infections, and myelokathexis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, anterior maxillary protrusion, and strabismus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, optic nerve atrophy, and pelger-huet anomaly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, optic nerve atrophy, and pelger-huet anomaly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alzheimer disease, familial, 3, with spastic paraparesis and apraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alzheimer disease, familial, 3, with spastic paraparesis and apraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-resistant diabetes mellitus AND acanthosis nigricans Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-resistant diabetes mellitus AND acanthosis nigricans phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness with labyrinthine aplasia microtia and microdontia (LAMM) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple Cutaneous and Mucosal Venous Malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple Cutaneous and Mucosal Venous Malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy hereditary sensory and autonomic type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy hereditary sensory and autonomic type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with mental retardation and digital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral neuropathy, myopathy, hoarseness, and hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral neuropathy, myopathy, hoarseness, and hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth retardation, developmental delay, coarse facies, and early death Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth retardation, developmental delay, coarse facies, and early death phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anemia sideroblastic and spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia sideroblastic and spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Facial dysmorphism, immunodeficiency, livedo, and short stature Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Facial dysmorphism, immunodeficiency, livedo, and short stature phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, congenital heart defects, and posterior embryotoxon Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, congenital heart defects, and posterior embryotoxon phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infertility associated with multi-tailed spermatozoa and excessive DNA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infertility associated with multi-tailed spermatozoa and excessive DNA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mullerian aplasia and hyperandrogenism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mullerian aplasia and hyperandrogenism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inclusion body myopathy with early-onset paget disease and frontotemporal dementia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inclusion body myopathy with early-onset paget disease and frontotemporal dementia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multicentric osteolysis, nodulosis and arthropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multicentric osteolysis, nodulosis and arthropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stapes ankylosis with broad thumb and toes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stapes ankylosis with broad thumb and toes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal dystrophy and perceptive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal dystrophy and perceptive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, lactic acidosis, and sideroblastic anemia 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, lactic acidosis, and sideroblastic anemia 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, hereditary motor and sensory, Okinawa type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary motor and sensory, Okinawa type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, short stature, and impaired glucose metabolism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, short stature, and impaired glucose metabolism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hemorrhagic destruction of the brain, subependymal calcification, and cataracts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly, alopecia, cutis laxa, and scoliosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly, alopecia, cutis laxa, and scoliosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypomyelination and Congenital Cataract Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypomyelination and Congenital Cataract phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hirschsprung disease, cardiac defects, and autonomic dysfunction Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hirschsprung disease, cardiac defects, and autonomic dysfunction phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy dilated with woolly hair and keratoderma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy dilated with woolly hair and keratoderma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis, renal dysfunction, and cholestasis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis, renal dysfunction, and cholestasis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract and cardiomyopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract and cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory skin and bowel disease, neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory skin and bowel disease, neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, microphthalmia and nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, microphthalmia and nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bone fragility with contractures, arterial rupture, and deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bone fragility with contractures, arterial rupture, and deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulna and fibula absence of with severe limb deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Factor v and factor viii, combined deficiency of, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary Paragangliomas and Pheochromocytomas Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary Paragangliomas and Pheochromocytomas phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Band-like calcification with simplified gyration and polymicrogyria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Band-like calcification with simplified gyration and polymicrogyria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia and hypogonadotropic hypogonadism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia and hypogonadotropic hypogonadism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epilepsy, X-linked, with variable learning disabilities and behavior disorders Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epilepsy, X-linked, with variable learning disabilities and behavior disorders phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Optic atrophy and cataract, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Optic atrophy and cataract, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, juvenile, with microcornea and glucosuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, juvenile, with microcornea and glucosuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, deafness, and narcolepsy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, deafness, and narcolepsy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile macular degeneration and hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary motor and sensory neuropathy with optic atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary motor and sensory neuropathy with optic atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary leiomyomatosis and renal cell cancer Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary leiomyomatosis and renal cell cancer phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

T-cell immunodeficiency, congenital alopecia and nail dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the T-cell immunodeficiency, congenital alopecia and nail dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pancreatic agenesis and congenital heart disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pancreatic agenesis and congenital heart disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined malonic and methylmalonic aciduria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined malonic and methylmalonic aciduria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, myopic chorioretinal atrophy, and telecanthus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, myopic chorioretinal atrophy, and telecanthus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glomerulocystic kidney disease with hyperuricemia and isosthenuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glomerulocystic kidney disease with hyperuricemia and isosthenuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis Gyrata syndrome of Beare and Stevenson Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis Gyrata syndrome of Beare and Stevenson phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal intraepithelial dyskeratosis and ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal intraepithelial dyskeratosis and ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aniridia, cerebellar ataxia, and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked hereditary motor and sensory neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hereditary motor and sensory neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniosynostosis and dental anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniosynostosis and dental anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mycobacterial and viral infections, susceptibility to, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mycobacterial and viral infections, susceptibility to, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Obesity, hyperphagia, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Obesity, hyperphagia, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebroretinal microangiopathy with calcifications and cysts Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebroretinal microangiopathy with calcifications and cysts phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Generalized epilepsy and paroxysmal dyskinesia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Generalized epilepsy and paroxysmal dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alacrima, achalasia, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, normal intelligence and immunodeficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, normal intelligence and immunodeficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Calcification of joints and arteries Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Calcification of joints and arteries phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypotrichosis and recurrent skin vesicles Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis and recurrent skin vesicles phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysa bullosa simplex and limb girdle muscular dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysa bullosa simplex and limb girdle muscular dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Psychomotor retardation, epilepsy, and craniofacial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Psychomotor retardation, epilepsy, and craniofacial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epiphyseal dysplasia, multiple, with myopia and conductive deafness Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epiphyseal dysplasia, multiple, with myopia and conductive deafness phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutaneous telangiectasia and cancer syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutaneous telangiectasia and cancer syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pineal hyperplasia AND diabetes mellitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pineal hyperplasia AND diabetes mellitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Morbid obesity and spermatogenic failure Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Morbid obesity and spermatogenic failure phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Striatal necrosis, bilateral, and progressive polyneuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Striatal necrosis, bilateral, and progressive polyneuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary sensory and autonomic neuropathy type IIA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary sensory and autonomic neuropathy type IIA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia, high, with cataract and vitreoretinal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia, high, with cataract and vitreoretinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of factor V and factor VIII, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Camptodactyly, tall stature, and hearing loss syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Camptodactyly, tall stature, and hearing loss syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Corneal fragility keratoglobus, blue sclerae AND joint hypermobility phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyogenic arthritis, pyoderma gangrenosum and acne Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyogenic arthritis, pyoderma gangrenosum and acne phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Growth deficiency and mental retardation with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital Cataracts, Facial Dysmorphism, and Neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, cochlear, with myopia and intellectual impairment Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, cochlear, with myopia and intellectual impairment phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Combined deficiency of sialidase AND beta galactosidase Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, postnatal progressive, with seizures and brain atrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, postnatal progressive, with seizures and brain atrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

calcium- and calmodulin-dependent protein kinase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the calcium- and calmodulin-dependent protein kinase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mrna cleavage and polyadenylation specificity factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mrna cleavage and polyadenylation specificity factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial sorting and assembly machinery complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial sorting and assembly machinery complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.