Name

Retinal degeneration, autosomal recessive, clumped pigment type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

retinal degeneration, autosomal recessive, clumped pigment type Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal degeneration, autosomal recessive, clumped pigment type phenotype from the curated OMIM Gene-Disease Associations dataset.

macular degeneration; nephritis, hereditary; retinal degeneration; retinal drusen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease macular degeneration; nephritis, hereditary; retinal degeneration; retinal drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

eye diseases, hereditary; macular degeneration; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eye diseases, hereditary; macular degeneration; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

clumped Gene Set

From GeneRIF Biological Term Annotations

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

retinal degeneration, late-onset, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal degeneration, late-onset, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

Patterned dystrophy of retinal pigment epithelium Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Patterned dystrophy of retinal pigment epithelium phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Patterned dystrophy of retinal pigment epithelium Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Patterned dystrophy of retinal pigment epithelium from the curated CTD Gene-Disease Associations dataset.

retinal pigment epithelium development Gene Set

From GO Biological Process Annotations

genes participating in the retinal pigment epithelium development biological process from the curated GO Biological Process Annotations dataset.

abnormality of the retinal pigment epithelium Gene Set

From HPO Gene-Disease Associations

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

absent retinal pigment epithelium Gene Set

From HPO Gene-Disease Associations

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

depigmented lesions of the retinal pigment epithelium Gene Set

From HPO Gene-Disease Associations

genes associated with the depigmented lesions of the retinal pigment epithelium phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

retinal pigment epithelial atrophy Gene Set

From HPO Gene-Disease Associations

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

congenital hypertrophy of retinal pigment epithelium Gene Set

From HPO Gene-Disease Associations

genes associated with the congenital hypertrophy of retinal pigment epithelium phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

loss of retinal pigment epithelium Gene Set

From HPO Gene-Disease Associations

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

macular retinal pigment epithelial mottling Gene Set

From HPO Gene-Disease Associations

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

Retinal pigment epithelium GPCR Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Retinal pigment epithelium GPCR protein domain from the InterPro Predicted Protein Domain Annotations dataset.

retinal pigment epithelium atrophy Gene Set

From MPO Gene-Phenotype Associations

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

retinal pigment epithelium hyperplasia Gene Set

From MPO Gene-Phenotype Associations

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

abnormal retinal pigment epithelium morphology Gene Set

From MPO Gene-Phenotype Associations

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

retinal pigment epithelium Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

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

retinal pigment epithelium cell line Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue retinal pigment epithelium cell line in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

retinal pigment epithelium cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

retinal pigment epithelium Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

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

Retinal Degeneration Gene Set

From CTD Gene-Disease Associations

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

Late-Onset Retinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Late-Onset Retinal Degeneration from the curated CTD Gene-Disease Associations dataset.

retinal degeneration Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

retinal degeneration Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

peripheral retinal degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

retinal degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

blind vision; blindness; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blind vision; blindness; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

geographic atrophy; macular degeneration; retinal drusen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease geographic atrophy; macular degeneration; retinal drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinal degeneration Gene Set

From GAD Gene-Disease Associations

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

blindness; retinal degeneration Gene Set

From GAD Gene-Disease Associations

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

choroid diseases; macular degeneration; peripheral vascular diseases; retinal neovascularization Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choroid diseases; macular degeneration; peripheral vascular diseases; retinal neovascularization in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choroidal neovascularization; macular degeneration; retinal drusen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choroidal neovascularization; macular degeneration; retinal drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinal degeneration; retinitis pigmentosa Gene Set

From GAD Gene-Disease Associations

genes associated with the disease retinal degeneration; retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

color vision defects; retinal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease color vision defects; retinal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diseases in twins; macular degeneration; retinal drusen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diseases in twins; macular degeneration; retinal drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choroidal neovascularization; retinal drusen; wet macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choroidal neovascularization; retinal drusen; wet macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinal degeneration Gene Set

From GWASdb SNP-Disease Associations

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

retinal degeneration Gene Set

From HPO Gene-Disease Associations

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

pigmentary retinal degeneration Gene Set

From HPO Gene-Disease Associations

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

honeycomb retinal degeneration Gene Set

From HPO Gene-Disease Associations

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

cystic retinal degeneration Gene Set

From HPO Gene-Disease Associations

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

progressive retinal degeneration Gene Set

From HPO Gene-Disease Associations

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

Retinal Degeneration Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Retinal degeneration protein 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Retinal degeneration protein 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

retinal degeneration Gene Set

From MPO Gene-Phenotype Associations

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

retinal outer nuclear layer degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the retinal outer nuclear layer degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

retinal rod cell degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the retinal rod cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

retinal cone cell degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the retinal cone cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

retinal ganglion cell degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the retinal ganglion cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

retinal photoreceptor degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the retinal photoreceptor degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

infantile cerebellar-retinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the infantile cerebellar-retinal degeneration phenotype from the curated OMIM Gene-Disease 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.

activated protein c resistance; retinal neovascularization; retinal vein occlusion Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; retinal neovascularization; retinal vein occlusion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; retinal artery occlusion; retinal vein occlusion Gene Set

From GAD Gene-Disease Associations

genes associated with the disease behcet syndrome; retinal artery occlusion; retinal vein occlusion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; pregnancy complications, cardiovascular; pregnancy complications, hematologic; retinal artery occlusion; retinal vein occlusion; thrombophilia; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; pregnancy complications, cardiovascular; pregnancy complications, hematologic; retinal artery occlusion; retinal vein occlusion; thrombophilia; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

retinal artery occlusion; retinal vein occlusion Gene Set

From GAD Gene-Disease Associations

genes associated with the disease retinal artery occlusion; retinal vein occlusion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated OMIM Gene-Disease Associations dataset.

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe autosomal recessive muscular dystrophy of childhood - North African type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe autosomal recessive muscular dystrophy of childhood - North African type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohypoaldosteronism type 1 autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohypoaldosteronism type 1 autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 2B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 2B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type IA Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type IA phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive cutis laxa type 3B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive cutis laxa type 3B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I from the curated CTD Gene-Disease Associations dataset.

Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa, Autosomal Recessive, Type IIA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIA from the curated CTD Gene-Disease Associations dataset.

Cutis Laxa, Autosomal Recessive, Type IIB Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cutis Laxa, Autosomal Recessive, Type IIB from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II from the curated CTD Gene-Disease Associations dataset.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA from the curated CTD Gene-Disease Associations dataset.

Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

scid, autosomal recessive, t-negative/b-positive type Gene Set

From OMIM Gene-Disease Associations

genes associated with the scid, autosomal recessive, t-negative/b-positive type phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii Gene Set

From OMIM Gene-Disease Associations

genes associated with the granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type ia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type ia phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type ib Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type ib phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type iiia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iiia phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type iiib Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iiib phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type ic Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type ic phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type iia Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iia phenotype from the curated OMIM Gene-Disease Associations dataset.

cutis laxa, autosomal recessive, type iib Gene Set

From OMIM Gene-Disease Associations

genes associated with the cutis laxa, autosomal recessive, type iib phenotype from the curated OMIM Gene-Disease Associations dataset.

Striatal Degeneration, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Striatal Degeneration, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

autosomal dominant macular degeneration Gene Set

From GAD Gene-Disease Associations

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

striatal degeneration, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the striatal degeneration, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

Rhegmatogenous retinal detachment, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhegmatogenous retinal detachment, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

pigment granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the pigment granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

pigment granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the pigment granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 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.

H3K4me3_retinal pigment epithelial cell_hg19_1 Gene Set

From ENCODE Histone Modification Site Profiles

genes with high histone modification abundance in the H3K4me3_retinal pigment epithelial cell_hg19_1 histone modification site profile from the ENCODE Histone Modification Site Profiles dataset.

H3K4me3_retinal pigment epithelial cell_hg19_2 Gene Set

From ENCODE Histone Modification Site Profiles

genes with high histone modification abundance in the H3K4me3_retinal pigment epithelial cell_hg19_2 histone modification site profile from the ENCODE Histone Modification Site Profiles dataset.

CTCF_retinal pigment epithelial cell_hg19_2 Gene Set

From ENCODE Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CTCF_retinal pigment epithelial cell_hg19_2 transcription factor binding site profile from the ENCODE Transcription Factor Binding Site Profiles dataset.

CTCF_retinal pigment epithelial cell_hg19_1 Gene Set

From ENCODE Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the CTCF_retinal pigment epithelial cell_hg19_1 transcription factor binding site profile from the ENCODE Transcription Factor Binding Site Profiles dataset.

pigment Gene Set

From GeneRIF Biological Term Annotations

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

positive regulation of pigment cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of pigment cell differentiation biological process from the curated GO Biological Process Annotations dataset.

eye pigment granule organization Gene Set

From GO Biological Process Annotations

genes participating in the eye pigment granule organization biological process from the curated GO Biological Process Annotations dataset.

endosome to pigment granule transport Gene Set

From GO Biological Process Annotations

genes participating in the endosome to pigment granule transport biological process from the curated GO Biological Process Annotations dataset.

pigment biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the pigment biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

pigment granule maturation Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule maturation biological process from the curated GO Biological Process Annotations dataset.

pigment cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the pigment cell differentiation biological process from the curated GO Biological Process Annotations dataset.

eye pigment metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the eye pigment metabolic process biological process from the curated GO Biological Process Annotations dataset.

pigment granule transport Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule transport biological process from the curated GO Biological Process Annotations dataset.

pigment catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the pigment catabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of pigment cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of pigment cell differentiation biological process from the curated GO Biological Process Annotations dataset.

eye pigment biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the eye pigment biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

establishment of pigment granule localization Gene Set

From GO Biological Process Annotations

genes participating in the establishment of pigment granule localization biological process from the curated GO Biological Process Annotations dataset.

pigment metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the pigment metabolic process biological process from the curated GO Biological Process Annotations dataset.

pigment metabolic process involved in pigmentation Gene Set

From GO Biological Process Annotations

genes participating in the pigment metabolic process involved in pigmentation biological process from the curated GO Biological Process Annotations dataset.

pigment accumulation Gene Set

From GO Biological Process Annotations

genes participating in the pigment accumulation biological process from the curated GO Biological Process Annotations dataset.

cellular pigment accumulation Gene Set

From GO Biological Process Annotations

genes participating in the cellular pigment accumulation biological process from the curated GO Biological Process Annotations dataset.

pigment granule aggregation in cell center Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule aggregation in cell center biological process from the curated GO Biological Process Annotations dataset.

pigment metabolic process involved in developmental pigmentation Gene Set

From GO Biological Process Annotations

genes participating in the pigment metabolic process involved in developmental pigmentation biological process from the curated GO Biological Process Annotations dataset.

pigment granule organization Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule organization biological process from the curated GO Biological Process Annotations dataset.

pigment granule localization Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule localization biological process from the curated GO Biological Process Annotations dataset.

pigment granule Gene Set

From GO Cellular Component Annotations

proteins localized to the pigment granule cellular component from the curated GO Cellular Component Annotations dataset.

pigment gallstones Gene Set

From HPO Gene-Disease Associations

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

melanin pigment aggregation in hair shafts Gene Set

From HPO Gene-Disease Associations

genes associated with the melanin pigment aggregation in hair shafts phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

large clumps of pigment irregularly distributed along hair shaft Gene Set

From HPO Gene-Disease Associations

genes associated with the large clumps of pigment irregularly distributed along hair shaft phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Pigment precursor permease Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Pigment precursor permease protein domain from the InterPro Predicted Protein Domain Annotations dataset.

pigment granule Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the pigment granule cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

abnormal eye pigment epithelium morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal eye pigment epithelium morphology 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.

pigment disorder, reticulate Gene Set

From OMIM Gene-Disease Associations

genes associated with the pigment disorder, reticulate phenotype from the curated OMIM Gene-Disease Associations dataset.

pigment dispersion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the pigment dispersion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; diabetes mellitus type ii; diabetes mellitus, type 2; glomerulonephritis; kidney failure, chronic; polycystic kidney, autosomal dominant in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus, type 2; inflammatory bowel diseases; macular degeneration; prostatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus, type 2; inflammatory bowel diseases; macular degeneration; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

type ii spiral ligament fibrocyte degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the type ii spiral ligament fibrocyte degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

type i spiral ligament fibrocyte degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the type i spiral ligament fibrocyte degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

type iv spiral ligament fibrocyte degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the type iv spiral ligament fibrocyte degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

type iii spiral ligament fibrocyte degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the type iii spiral ligament fibrocyte degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

{macular degeneration, age-related, neovascular type} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {macular degeneration, age-related, neovascular type} phenotype from the curated OMIM Gene-Disease Associations dataset.

Methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ocular coloboma, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ocular coloboma, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 12, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 12, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Agammaglobulinemia 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Agammaglobulinemia 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 101 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 101 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 103 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 103 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypophosphatemic vitamin D refractory rickets Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypophosphatemic vitamin D refractory rickets phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia due to protein S deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auditory neuropathy, autosomal recessive, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auditory neuropathy, autosomal recessive, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Woolly hair, autosomal recessive 2, with or without hypotrichosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Woolly hair, autosomal recessive 2, with or without hypotrichosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alport syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alport syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 3, autosomal dominant or recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectopia lentis, isolated autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectopia lentis, isolated autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary hypertrophic osteoarthropathy, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary hypertrophic osteoarthropathy, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypophosphatemic bone disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypophosphatemic bone disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Inflammatory bowel disease 25, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Inflammatory bowel disease 25, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 30 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 37 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 37 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 35 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 35 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 46, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 46, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 48, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 48, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tetraamelia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tetraamelia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 25 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 29 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thyroid hormone resistance, generalized, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thyroid hormone resistance, generalized, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primary autosomal recessive microcephaly 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primary autosomal recessive microcephaly 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 59 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 59 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myoglobinuria, acute recurrent, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 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.

Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease 6, autosomal recessive early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease 6, autosomal recessive early-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, autosomal recessive congenital 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal recessive congenital 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amyotrophic lateral sclerosis 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amyotrophic lateral sclerosis 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 3, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 3, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Renal tubular acidosis, distal, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Renal tubular acidosis, distal, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 54, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 54, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia, spastic, 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia, spastic, 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 10, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 10, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Heterotopia, periventricular, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Heterotopia, periventricular, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Persistent hyperplastic primary vitreous, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 11, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 11, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 57, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 57, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 102 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 102 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 72, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 72, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Segawa syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Segawa syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myopia 23, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myopia 23, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Klippel-Feil syndrome 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Klippel-Feil syndrome 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive hypohidrotic ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 44, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 44, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic ataxia 5, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic ataxia 5, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Indifference to pain, congenital, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Indifference to pain, congenital, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amyotrophic lateral sclerosis 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amyotrophic lateral sclerosis 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa simplex, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa simplex, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 18b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 18b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 55, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 55, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 63, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 63, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 27 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nemaline myopathy 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nemaline myopathy 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital myotonia, autosomal recessive form Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital myotonia, autosomal recessive form phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 91 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 91 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 84b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 84b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cataract, congenital nuclear, autosomal recessive 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, congenital nuclear, autosomal recessive 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polymicrogyria, bilateral perisylvian, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polymicrogyria, bilateral perisylvian, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia autosomal recessive with axonal neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia autosomal recessive with axonal neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive Dejerine-Sottas syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive Dejerine-Sottas syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 39 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glut1 deficiency syndrome 1, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 86 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 86 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 81 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 81 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculodentodigital dysplasia, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculodentodigital dysplasia, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 89 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 89 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 88 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 88 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 48 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 48 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 2 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.

Spinocerebellar ataxia, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia, autosomal recessive 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 38 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sclerocornea, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sclerocornea, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 56, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 56, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 34 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 53 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 53 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 30, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 30, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epidermolysis bullosa dystrophica inversa, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epidermolysis bullosa dystrophica inversa, autosomal recessive 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.

Dyskeratosis congenita, autosomal recessive, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyskeratosis congenita, autosomal recessive, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Agammaglobulinemia 6, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Agammaglobulinemia 6, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Agammaglobulinemia 7, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Agammaglobulinemia 7, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia, spastic, 2, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia, spastic, 2, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spinocerebellar ataxia autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spinocerebellar ataxia autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Severe congenital neutropenia 4, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Severe congenital neutropenia 4, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 45, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spastic paraplegia 45, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 31 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 31 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.

Mental retardation, autosomal recessive 47 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal recessive 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal recessive 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 76 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 76 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 77 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 77 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 74 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 74 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 70 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 70 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 79 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 79 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive centronuclear myopathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive centronuclear myopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 61 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 61 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 63 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 63 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 67 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 67 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autosomal recessive congenital ichthyosis 4B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autosomal recessive congenital ichthyosis 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 11, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 11, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly with chorioretinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly with chorioretinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Robinow syndrome, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 40 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 41 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 42 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 43 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 44 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 45 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mental retardation, autosomal recessive 46 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mental retardation, autosomal recessive 46 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bestrophinopathy, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bestrophinopathy, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 9, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 9, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distal spinal muscular atrophy, autosomal recessive 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distal spinal muscular atrophy, autosomal recessive 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypophosphatemic rickets, autosomal recessive, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly 13, primary, autosomal recessive Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly 13, primary, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Deafness, autosomal recessive 1A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Deafness, autosomal recessive 1A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia 20, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 20, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 1b Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 1b from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 32 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 32 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 1A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 1A from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 14 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 14 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 16 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 16 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 17 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 17 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 32, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 32, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT from the curated CTD Gene-Disease Associations dataset.

Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 from the curated CTD Gene-Disease Associations dataset.

Heterotopia, Periventricular, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotopia, Periventricular, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 from the curated CTD Gene-Disease Associations dataset.

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amyotrophic Lateral Sclerosis 6, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 67 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 67 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.

Ichthyosis with hypotrichosis, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ichthyosis with hypotrichosis, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 91 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 91 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 77 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 77 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 85 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 85 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 79 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 79 from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 33 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 33 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 31 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 31 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 37 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 37 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 35 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 35 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 38 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 38 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 39 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 39 from the curated CTD Gene-Disease Associations dataset.

Sick Sinus Syndrome 1, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Sick Sinus Syndrome 1, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 83 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 83 from the curated CTD Gene-Disease Associations dataset.

Ataxia, Spastic, 3, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ataxia, Spastic, 3, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 40 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 40 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 46 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 46 from the curated CTD Gene-Disease Associations dataset.

Candidiasis familial chronic mucocutaneous, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Candidiasis familial chronic mucocutaneous, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 44 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 44 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 7, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 7, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Hypercholesterolemia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypercholesterolemia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 26 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 26 from the curated CTD Gene-Disease Associations dataset.

Indifference to Pain, Congenital, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Indifference to Pain, Congenital, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Robinow syndrome, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Robinow syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 27 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 27 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 22 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 22 from the curated CTD Gene-Disease Associations dataset.

Inflammatory Bowel Disease 25, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inflammatory Bowel Disease 25, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 8 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 62 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 62 from the curated CTD Gene-Disease Associations dataset.

PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Dystonia 17, Torsion, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dystonia 17, Torsion, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 11, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 11, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive, 24 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive, 24 from the curated CTD Gene-Disease Associations dataset.

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Polycystic Kidney, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic Kidney, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar Ataxia, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar Ataxia, Autosomal Recessive 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Renal tubular acidosis, distal, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Renal tubular acidosis, distal, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 44, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 44, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 25, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 25, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Myopathy, Hyaline Body, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myopathy, Hyaline Body, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Thyroid Hormone Resistance, Generalized, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Thyroid Hormone Resistance, Generalized, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 15, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 15, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Cerebral Palsy, Ataxic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cerebral Palsy, Ataxic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 18A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 18A from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 74 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 74 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 39, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 39, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 30 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 30 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 28 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 28 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 59 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 59 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia-50, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia-50, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 84A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 84A from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia 14, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia 14, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 25 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 25 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 6, Autosomal Recessive Early-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 6, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Recessive Congenital 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Recessive Congenital 3 from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 5 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 3 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatemic Rickets, Autosomal Recessive, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 2 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatemic Rickets, Autosomal Recessive, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatemic Rickets, Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 4 from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 5 from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Recessive, Early-Onset, Pulverulent Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Recessive, Early-Onset, Pulverulent from the curated CTD Gene-Disease Associations dataset.

SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 7 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 21 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 21 from the curated CTD Gene-Disease Associations dataset.

Colorectal Adenomatous Polyposis, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Colorectal Adenomatous Polyposis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BESTROPHINOPATHY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Inflammatory Bowel Disease 28, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inflammatory Bowel Disease 28, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 45 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 45 from the curated CTD Gene-Disease Associations dataset.

Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 4 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 1 from the curated CTD Gene-Disease Associations dataset.

Myosclerosis, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myosclerosis, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.

Deafness, autosomal recessive 51 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, autosomal recessive 51 from the curated CTD Gene-Disease Associations dataset.

Microcephaly, Primary Autosomal Recessive, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Microcephaly, Primary Autosomal Recessive, 1 from the curated CTD Gene-Disease Associations dataset.

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive from the curated CTD Gene-Disease Associations dataset.

ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 6 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 12 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 68 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 68 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar ataxia, autosomal recessive 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar ataxia, autosomal recessive 5 from the curated CTD Gene-Disease Associations dataset.

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 65 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 65 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset.

Dyskeratosis Congenita, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Dyskeratosis Congenita, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Tetra-amelia autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Tetra-amelia autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Mental Retardation, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 53 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 53 from the curated CTD Gene-Disease Associations dataset.

Spinocerebellar Ataxia, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinocerebellar Ataxia, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Epidermolysis Bullosa Simplex, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epidermolysis Bullosa Simplex, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT from the curated CTD Gene-Disease Associations dataset.

Myoglobinuria, Acute Recurrent, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myoglobinuria, Acute Recurrent, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 47 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 47 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 49 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 49 from the curated CTD Gene-Disease Associations dataset.

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 from the curated CTD Gene-Disease Associations dataset.

AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 27, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 27, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

Oculodentodigital Dysplasia, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Oculodentodigital Dysplasia, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 42 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 42 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 71 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 71 from the curated CTD Gene-Disease Associations dataset.

Deafness, autosomal recessive 55 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, autosomal recessive 55 from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 20 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 20 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 23 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 23 from the curated CTD Gene-Disease Associations dataset.

Inclusion body myopathy autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Inclusion body myopathy autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Cataract, Congenital Nuclear, Autosomal Recessive 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Congenital Nuclear, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset.

Segawa syndrome, autosomal recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Segawa syndrome, autosomal recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 63 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 63 from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 66 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 66 from the curated CTD Gene-Disease Associations dataset.

Spastic Paraplegia 18, Autosomal Recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic Paraplegia 18, Autosomal Recessive from the curated CTD Gene-Disease Associations dataset.

Deafness, Autosomal Recessive 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset.

Parkinson Disease 7, Autosomal Recessive Early-Onset Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinson Disease 7, Autosomal Recessive Early-Onset from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset.

Neutropenia, Severe Congenital, Autosomal Recessive 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neutropenia, Severe Congenital, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset.

SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE from the curated CTD Gene-Disease Associations dataset.

autosomal recessive disease Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

autosomal recessive disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

autosomal recessive nonsyndromic deafness Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

autosomal recessive disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

autosomal recessive charcot-marie-tooth disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autosomal recessive charcot-marie-tooth disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autosomal recessive disease Gene Set

From GWASdb SNP-Disease Associations

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

autosomal recessive inheritance Gene Set

From HPO Gene-Disease Associations

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

Polycystic Kidney, Autosomal Recessive Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Polycystic Kidney, Autosomal Recessive phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

mental retardation, autosomal recessive, 9/26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset.

exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like Gene Set

From OMIM Gene-Disease Associations

genes associated with the exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 28 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 29 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylocostal dysostosis 1, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylocostal dysostosis 1, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 5a, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 5a, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, autosomal recessive, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, distal, autosomal recessive, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, distal, autosomal recessive, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 74 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 74 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylocostal dysostosis 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylocostal dysostosis 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?spinocerebellar ataxia, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spinocerebellar ataxia, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

?spinocerebellar ataxia, autosomal recessive 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spinocerebellar ataxia, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 18a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 18a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 18b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 18b phenotype from the curated OMIM Gene-Disease Associations dataset.

epidermolysis bullosa, nonspecific, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa, nonspecific, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein s deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein s deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?microcephaly 11, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 11, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 18, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 40 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 46 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 3, with renal tubular acidosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 3, with renal tubular acidosis phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus, nonsyndromic, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus, nonsyndromic, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 32, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 32, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 51 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 51 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 53 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 53 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 55 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 55 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 59 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 59 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 2, primary, autosomal recessive, with or without cortical malformations Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 2, primary, autosomal recessive, with or without cortical malformations phenotype from the curated OMIM Gene-Disease Associations dataset.

neuromyotonia and axonal neuropathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuromyotonia and axonal neuropathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 53, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 53, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ectopia lentis, isolated, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectopia lentis, isolated, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

heterotaxy, visceral, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the heterotaxy, visceral, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 22, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 22, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 5, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 5, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 4, with enlarged vestibular aqueduct Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 4, with enlarged vestibular aqueduct phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic ataxia 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic ataxia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic ataxia 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic ataxia 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 76 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 76 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 77 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 77 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 70 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 70 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 71 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 71 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 79 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 79 phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmentosa, juvenile, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinitis pigmentosa, juvenile, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

protoporphyria, erythropoietic, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the protoporphyria, erythropoietic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 1a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 1a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 1b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 1b phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

thrombophilia due to protein c deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thrombophilia due to protein c deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 30, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 30, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 85 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 85 phenotype from the curated OMIM Gene-Disease Associations dataset.

myopia 23, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopia 23, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 43, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 43, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 32 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset.

hydrocephalus, nonsyndromic, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hydrocephalus, nonsyndromic, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 45, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 45, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 33 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 30 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 31 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 36 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 37 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 37 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 35 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 38 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 39 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal recessive, due to tenascin x deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 25, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 25, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 91 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 91 phenotype from the curated OMIM Gene-Disease Associations dataset.

inclusion body myopathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the inclusion body myopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 39, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 39, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive, 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive, 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1f, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1f, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 55, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 55, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, chronic distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, chronic distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 30 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 24, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 24, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 28, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 28, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

{dyskeratosis congenita, autosomal recessive 4} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {dyskeratosis congenita, autosomal recessive 4} phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 9, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 9, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercholesterolemia, familial, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercholesterolemia, familial, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 8, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 8, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 11, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 11, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocrebellar ataxia, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocrebellar ataxia, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

inflammatory bowel disease 25, early onset, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the inflammatory bowel disease 25, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

methionine adenosyltransferase deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?coloboma, ocular, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?coloboma, ocular, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 84a Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 84a phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 84b Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 84b phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 96 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 96 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 93 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 93 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 98 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 98 phenotype from the curated OMIM Gene-Disease Associations dataset.

amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia Gene Set

From OMIM Gene-Disease Associations

genes associated with the amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertrophic osteoarthropathy, primary, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertrophic osteoarthropathy, primary, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertrophic osteoarthropathy, primary, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertrophic osteoarthropathy, primary, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 10/20 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 10/20 phenotype from the curated OMIM Gene-Disease Associations dataset.

alport syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the alport syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskeratosis congenita, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskeratosis congenita, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskeratosis congenita, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskeratosis congenita, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskeratosis congenita, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskeratosis congenita, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyskeratosis congenita, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyskeratosis congenita, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 8/10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 8/10 phenotype from the curated OMIM Gene-Disease Associations dataset.

bestrophinopathy, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the bestrophinopathy, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 46, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 46, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

{epidermolysis bullosa dystrophica, autosomal recessive, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {epidermolysis bullosa dystrophica, autosomal recessive, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1b, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 26, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 26, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 51, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 51, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1c, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1c, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 6, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 6, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

craniometaphyseal dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniometaphyseal dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hsan2d, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hsan2d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Gene Set

From OMIM Gene-Disease Associations

genes associated with the colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 103 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 103 phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 102 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 102 phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 101 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 101 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 47, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 47, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hypoparathyroidism, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypoparathyroidism, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 1, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 1, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmentosa-12, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinitis pigmentosa-12, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?microcephaly 8, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 8, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 4a Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 4a phenotype from the curated OMIM Gene-Disease Associations dataset.

woolly hair, autosomal recessive 1, with or without hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the woolly hair, autosomal recessive 1, with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 32 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 6, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 6, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (incomplete), 2b, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (incomplete), 2b, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, autosomal recessive 4b (harlequin) Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, autosomal recessive 4b (harlequin) phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperekplexia, hereditary 1, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperekplexia, hereditary 1, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal recessive 45 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal recessive 42 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal recessive 43 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal recessive 43 phenotype from the curated OMIM Gene-Disease Associations dataset.

retinitis pigmentosa 4, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinitis pigmentosa 4, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 27, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 27, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

parkinson disease 15, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the parkinson disease 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

{deafness, autosomal recessive 12, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {deafness, autosomal recessive 12, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

immunodeficiency, primary, autosomal recessive, il21r-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the immunodeficiency, primary, autosomal recessive, il21r-related phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, centronuclear, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, centronuclear, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 39 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 38 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 31 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 33 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 35 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 34 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 34 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 36 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, neurosensory, autosomal recessive 47 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, neurosensory, autosomal recessive 47 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 52, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 52, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the candidiasis, familial, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the candidiasis, familial, 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hyper-ige recurrent infection syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyper-ige recurrent infection syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

inflammatory bowel disease 28, early onset, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the inflammatory bowel disease 28, early onset, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 14, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 14, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1e, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1e, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 56, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 56, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 3, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 3, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hypophosphatemic rickets, autosomal recessive, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypophosphatemic rickets, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 35, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 35, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 42 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 40 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 46 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 45 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 48 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 48 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal endothelial dystrophy 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal endothelial dystrophy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 44 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

hyperekplexia 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the hyperekplexia 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

neutropenia, severe congenital 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the neutropenia, severe congenital 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

renal tubular acidosis, distal, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the renal tubular acidosis, distal, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 68 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 68 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 61 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 61 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 63 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 63 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 62 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 62 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 65 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 65 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 67 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 67 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 66 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 66 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 3, autosomal dominant or recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 3, autosomal dominant or recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

night blindness, congenital stationary (complete), 1d, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the night blindness, congenital stationary (complete), 1d, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 50, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 50, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?deafness, autosomal recessive 88 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?deafness, autosomal recessive 88 phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 44, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 44, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 15, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 15, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness , autosomal recessive 86 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness , autosomal recessive 86 phenotype from the curated OMIM Gene-Disease Associations dataset.

anemia, sideroblastic, pyridoxine-refractory, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the anemia, sideroblastic, pyridoxine-refractory, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 41 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 41 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 26 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 20 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 20 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 22 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 22 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 29 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 28 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

myoglobinuria, acute recurrent, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the myoglobinuria, acute recurrent, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 18, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 18, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

thyroid hormone resistance, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the thyroid hormone resistance, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

tetra-amelia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the tetra-amelia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

factor xi deficiency, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the factor xi deficiency, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

robinow syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the robinow syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 72, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 72, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 49, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 49, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 4, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 4, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

parkinson disease 7, autosomal recessive early-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the parkinson disease 7, autosomal recessive early-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

osteopetrosis, autosomal recessive 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the osteopetrosis, autosomal recessive 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

woolly hair, autosomal recessive 2 with or without hypotrichosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the woolly hair, autosomal recessive 2 with or without hypotrichosis phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylocostal dysostosis 4, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylocostal dysostosis 4, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 54, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 54, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 83 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 83 phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 89 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 89 phenotype from the curated OMIM Gene-Disease Associations dataset.

corneal clouding, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the corneal clouding, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

ichthyosis, congenital, autosomal recessive 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ichthyosis, congenital, autosomal recessive 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

?microcephaly 12, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 12, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly 7, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly 7, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly and chorioretinopathy, autosomal recessive, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

microcephaly and chorioretinopathy, autosomal recessive, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcephaly and chorioretinopathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

?microcephaly 13, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 13, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

ataxia, spastic, 5, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ataxia, spastic, 5, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 61, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 61, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paraplegia 48, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paraplegia 48, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?spastic paraplegia 57, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spastic paraplegia 57, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

oculodentodigital dysplasia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the oculodentodigital dysplasia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

mental retardation, autosomal recessive 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the mental retardation, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

?spondylocostal dysostosis 3, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?spondylocostal dysostosis 3, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

phosphorylase kinase deficiency of liver and muscle, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphorylase kinase deficiency of liver and muscle, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

candidiasis, familial, 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the candidiasis, familial, 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

deafness, autosomal recessive 49 Gene Set

From OMIM Gene-Disease Associations

genes associated with the deafness, autosomal recessive 49 phenotype from the curated OMIM Gene-Disease Associations dataset.

macrocephaly/megalencephaly syndrome, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocephaly/megalencephaly syndrome, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

progressive external ophthalmoplegia, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the progressive external ophthalmoplegia, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

nemaline myopathy 2, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the nemaline myopathy 2, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 38, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 38, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?agammaglobulinemia 7, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?agammaglobulinemia 7, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

?microcephaly 10, primary, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?microcephaly 10, primary, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

spinocerebellar ataxia, autosomal recessive with axonal neuropathy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinocerebellar ataxia, autosomal recessive with axonal neuropathy phenotype from the curated OMIM Gene-Disease Associations dataset.

?mental retardation, autosomal recessive, 37 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?mental retardation, autosomal recessive, 37 phenotype from the curated OMIM Gene-Disease Associations dataset.

persistent hyperplastic primary vitreous, autosomal recessive Gene Set

From OMIM Gene-Disease Associations

genes associated with the persistent hyperplastic primary vitreous, autosomal recessive phenotype from the curated OMIM Gene-Disease Associations dataset.

auditory neuropathy, autosomal recessive, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the auditory neuropathy, autosomal recessive, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) pathway from the Reactome Pathways dataset.

Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) pathway from the Reactome Pathways dataset.

Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) pathway from the Reactome Pathways dataset.

Macular dystrophy, retinal, 1, North Carolina type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular dystrophy, retinal, 1, North Carolina type from the curated CTD Gene-Disease Associations dataset.

{retinal disease in usher syndrome type iia, modifier of} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {retinal disease in usher syndrome type iia, modifier of} phenotype from the curated OMIM Gene-Disease Associations dataset.

DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, from the curated CTD Gene-Disease Associations dataset.

albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria Gene Set

From GAD Gene-Disease Associations

genes associated with the disease albuminuria; chronic renal failure; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy; glycosuria; kidney failure, chronic; proteinuria in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, type 1; diabetes mellitus, type 2; hypoglycemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, type 1; diabetes mellitus, type 2; hypoglycemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; hypertriglyceridemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; coronary artery disease; diabetes mellitus type ii; diabetes mellitus, type 2; diabetic angiopathies; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii; hypertriglyceridemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; disease susceptibility; polyendocrinopathies, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; disease susceptibility; polyendocrinopathies, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic nephropathies; diabetic nephropathy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic retinopathy; genetic predisposition to disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis, rheumatoid; coronary artery disease; crohn disease; crohn's disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; hypertension; rheumatoid arthritis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease apoplexy; coronary disease; coronary heart disease; diabetes mellitus type ii; diabetes mellitus, insulin-dependent; diabetes mellitus, type 1; diabetes mellitus, type 2; diabetic angiopathies; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Charcot-Marie-Tooth disease, X-linked recessive, type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, X-linked recessive, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Charcot-Marie-Tooth disease, X-linked recessive, type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Charcot-Marie-Tooth disease, X-linked recessive, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spastic paraplegia type 5A, recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia type 5A, recessive from the curated CTD Gene-Disease Associations dataset.

Spastic paraplegia type 5B, recessive Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spastic paraplegia type 5B, recessive from the curated CTD Gene-Disease Associations dataset.

Alport syndrome, recessive type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alport syndrome, recessive type from the curated CTD Gene-Disease Associations dataset.

bernard-soulier syndrome, type a1 (recessive) Gene Set

From OMIM Gene-Disease Associations

genes associated with the bernard-soulier syndrome, type a1 (recessive) phenotype from the curated OMIM Gene-Disease Associations dataset.

Cataract, autosomal dominant, multiple types, with microcornea Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cataract, autosomal dominant, multiple types, with microcornea phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bernard-Soulier syndrome, type A2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopetrosis autosomal dominant type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopetrosis autosomal dominant type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune polyglandular syndrome type 1, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune polyglandular syndrome type 1, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypercholesterolemia, autosomal dominant, type B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypercholesterolemia, autosomal dominant, type B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudohypoaldosteronism type 1 autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudohypoaldosteronism type 1 autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

Osteopetrosis autosomal dominant type 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Osteopetrosis autosomal dominant type 1 from the curated CTD Gene-Disease Associations dataset.

BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset.

Cataract, Autosomal Dominant, Multiple Types 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cataract, Autosomal Dominant, Multiple Types 1 from the curated CTD Gene-Disease Associations dataset.

ehlers-danlos syndrome, autosomal dominant, hypermobility type Gene Set

From OMIM Gene-Disease Associations

genes associated with the ehlers-danlos syndrome, autosomal dominant, hypermobility type phenotype from the curated OMIM Gene-Disease Associations dataset.

cataract 39, multiple types, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the cataract 39, multiple types, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

bleeding disorder, platelet-type, 16, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the bleeding disorder, platelet-type, 16, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

pseudohypoaldosteronism type i, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the pseudohypoaldosteronism type i, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

Macular degeneration, early-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macular degeneration, early-onset 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.

Age-related macular degeneration 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Age-related macular degeneration 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Age-related macular degeneration 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Age-related macular degeneration 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Age-related macular degeneration 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Age-related macular degeneration 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Age-related macular degeneration 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Age-related macular degeneration 14 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.

Pigmentary pallidal degeneration Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pigmentary pallidal degeneration 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.

Macular Degeneration, Age-Related, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 11 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration Gene Set

From CTD Gene-Disease Associations

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

Macular Degeneration, Age-Related, 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 10 from the curated CTD Gene-Disease Associations dataset.

Snowflake vitreoretinal degeneration Gene Set

From CTD Gene-Disease Associations

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

CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 9 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 3 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 2 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 1 from the curated CTD Gene-Disease Associations dataset.

Macular Degeneration, Age-Related, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 7 from the curated CTD Gene-Disease Associations dataset.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED from the curated CTD Gene-Disease Associations dataset.

Intervertebral Disc Degeneration Gene Set

From CTD Gene-Disease Associations

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

Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration from the curated CTD Gene-Disease Associations dataset.

Nerve Degeneration Gene Set

From CTD Gene-Disease Associations

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

Macular Degeneration, Age-Related, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Macular Degeneration, Age-Related, 4 from the curated CTD Gene-Disease Associations dataset.

Striatonigral degeneration infantile Gene Set

From CTD Gene-Disease Associations

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

Hyaloideoretinal degeneration of Wagner Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hyaloideoretinal degeneration of Wagner from the curated CTD Gene-Disease Associations dataset.

Juvenile macular degeneration and hypotrichosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Juvenile macular degeneration and hypotrichosis from the curated CTD Gene-Disease Associations dataset.

Wallerian Degeneration Gene Set

From CTD Gene-Disease Associations

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

Frontotemporal Lobar Degeneration Gene Set

From CTD Gene-Disease Associations

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

Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset.

Hepatolenticular Degeneration Gene Set

From CTD Gene-Disease Associations

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

Macular Degeneration Gene Set

From dbGAP Gene-Trait Associations

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

macular degeneration Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

spinocerebellar degeneration Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

cerebral degeneration Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

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

age related macular degeneration Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease age related macular degeneration from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

degeneration of macula and posterior pole Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease degeneration of macula and posterior pole from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

macular degeneration Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

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

macular degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

striatonigral degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

spinocerebellar degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

kuhnt-junius degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

corneal degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cerebral degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

age related macular degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

conjunctival degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

degeneration of macula and posterior pole Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease degeneration of macula and posterior pole in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

primary cerebellar degeneration Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

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

cardiovascular diseases; macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choroidal neovascularization; geographic atrophy; macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choroidal neovascularization; geographic atrophy; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease multisystem atrophy, progressive supranuclear palsy and corticobasal degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choroiditis; macular degeneration Gene Set

From GAD Gene-Disease Associations

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

amyotrophic lateral sclerosis; iron metabolism disorders; nerve degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyotrophic lateral sclerosis; iron metabolism disorders; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chlamydia infections; macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chlamydia infections; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

macular degeneration; stargardt disease Gene Set

From GAD Gene-Disease Associations

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

hepatolenticular degeneration; movement disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatolenticular degeneration; movement disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

geographic atrophy; macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease geographic atrophy; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choroidal neovascularization; macular degeneration; peripheral vascular diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choroidal neovascularization; macular degeneration; peripheral vascular diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease alzheimer disease; alzheimer's disease; aphasia, primary progressive; dementia; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

age-related macular degeneration (wet) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease age-related macular degeneration (wet) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

wet macular degeneration Gene Set

From GAD Gene-Disease Associations

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

blind vision; blindness; choroidal neovascularization; macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blind vision; blindness; choroidal neovascularization; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cone degeneration Gene Set

From GAD Gene-Disease Associations

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

mitochondrial diseases; nerve degeneration; presbycusis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease mitochondrial diseases; nerve degeneration; presbycusis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

intervertebral disk degeneration Gene Set

From GAD Gene-Disease Associations

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

macular degeneration, age-related Gene Set

From GAD Gene-Disease Associations

genes associated with the disease macular degeneration, age-related in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial age-related macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial age-related macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatolenticular degeneration Gene Set

From GAD Gene-Disease Associations

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

brain injuries; nerve degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain injuries; nerve degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

macular degeneration; neovascularization, pathologic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease macular degeneration; neovascularization, pathologic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

macular degeneration Gene Set

From GAD Gene-Disease Associations

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

intervertebral disk degeneration; intervertebral disk displacement Gene Set

From GAD Gene-Disease Associations

genes associated with the disease intervertebral disk degeneration; intervertebral disk displacement in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angiomatosis; choroidal neovascularization; macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angiomatosis; choroidal neovascularization; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

macular degeneration; vision, low Gene Set

From GAD Gene-Disease Associations

genes associated with the disease macular degeneration; vision, low in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

macular degeneration; soft drusen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease macular degeneration; soft drusen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; hypertension; macular degeneration; prostatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; hypertension; macular degeneration; prostatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; inflammation; macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; inflammation; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hepatolenticular degeneration; liver failure, acute Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hepatolenticular degeneration; liver fail