Name

chromosome 1p36 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 1p36 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; chromosome deletion; dystonic disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; chromosome deletion; dystonic disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

azoospermia; chromosome deletion; infertility, male; oligospermia; sex chromosome aberrations; sex chromosome disorders of sex development Gene Set

From GAD Gene-Disease Associations

genes associated with the disease azoospermia; chromosome deletion; infertility, male; oligospermia; sex chromosome aberrations; sex chromosome disorders of sex development in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; chromosome deletion; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; chromosome deletion; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cystic fibrosis; klinefelter syndrome; klinefelter's syndrome; oligospermia; sex chromosome aberrations; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

azoospermia; chromosome deletion; infertility, male; oligospermia; sex chromosome aberrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease azoospermia; chromosome deletion; infertility, male; oligospermia; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome deletion; dystonia; myoclonus Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome deletion; dystonia; myoclonus in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; chromosome deletion; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brugada syndrome; chromosome deletion; death, sudden, cardiac; long qt syndrome; sudden cardiac death in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; pharyngeal pouch; syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective; radiation injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; micronuclei, chromosome-defective; radiation injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Chromosome 2q32-q33 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome 2q32-q33 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome 1q43-q44 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome 1q43-q44 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome Xq28 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome Xq28 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome 9q deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chromosome 9q deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chromosome 2q37 deletion syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Chromosome 2q37 deletion syndrome from the curated CTD Gene-Disease Associations dataset.

Chromosome Xp11.3 Deletion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Chromosome Xp11.3 Deletion Syndrome from the curated CTD Gene-Disease Associations dataset.

acquired immunodeficiency syndrome; chromosome deletion; hiv infections; [x]human immunodeficiency virus disease Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acquired immunodeficiency syndrome; chromosome deletion; hiv infections; [x]human immunodeficiency virus disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome deletion; digeorge syndrome Gene Set

From GAD Gene-Disease Associations

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

chromosome deletion; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome deletion; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome 7q11.23 deletion syndrome, distal, 1.2mb Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 7q11.23 deletion syndrome, distal, 1.2mb phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 4q21 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 4q21 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 6pter-p24 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 6pter-p24 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 15q26-qter deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 15q26-qter deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 17q12 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17q12 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 18p deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 18p deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 2p16.1-p15 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 2p16.1-p15 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 2p12-p11.2 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 2p12-p11.2 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 6q25-q25 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 6q25-q25 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 17q11.2 deletion syndrome, 1.4mb Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17q11.2 deletion syndrome, 1.4mb phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 15q25 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 15q25 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 1p32-p31 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 1p32-p31 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 22q11.2 deletion syndrome, distal Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 22q11.2 deletion syndrome, distal phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 16p11.2 deletion syndrome, 593kb Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 16p11.2 deletion syndrome, 593kb phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 16p11.2 deletion syndrome, 220kb Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 16p11.2 deletion syndrome, 220kb phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 11p15-p14 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 11p15-p14 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 16p12.2-p11.2 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 16p12.2-p11.2 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome xp11.3 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome xp11.3 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 16q22 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 16q22 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 18q deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 18q deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 8q21.11 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 8q21.11 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 16p13.3 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 16p13.3 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 1q43-q44 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 1q43-q44 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 13q14 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 13q14 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 2q31.2 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 2q31.2 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 6q11-q14 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 6q11-q14 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 1q21.1 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 1q21.1 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 15q11.2 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 15q11.2 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 3q13.31 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 3q13.31 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 9p deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 9p deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome xp21 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome xp21 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 1q41-q42 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 1q41-q42 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 10q26 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 10q26 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 15q24 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 15q24 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 19p13.13 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 19p13.13 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 17q23.1-q23.2 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17q23.1-q23.2 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 19q13.11 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 19q13.11 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 14q11-q22 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 14q11-q22 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 17p13.1 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17p13.1 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 5q14.3 deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 5q14.3 deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune diseases; chromosome aberrations; chromosome abnormality; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; klinefelter syndrome; klinefelter's syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Chromosome 17 deletion Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Chromosome 17 deletion from the curated CTD Gene-Disease Associations dataset.

Heterotopia, Periventricular, Associated With Chromosome 5q Deletion Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotopia, Periventricular, Associated With Chromosome 5q Deletion from the curated CTD Gene-Disease Associations dataset.

adenocarcinoma; chromosome deletion; lung neoplasms; neoplasm of lung Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; chromosome deletion; lung neoplasms; neoplasm of lung in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, squamous cell; chromosome deletion; head and neck neoplasms; squamous cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; chromosome deletion; head and neck neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome deletion; infertility, male Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome deletion; infertility, male in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome deletion Gene Set

From GAD Gene-Disease Associations

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

brill-symmers disease; chromosome deletion; lymphoma, follicular Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brill-symmers disease; chromosome deletion; lymphoma, follicular in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome deletion; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome deletion; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; biliary tract neoplasm; biliary tract neoplasms; chromosome deletion; diabetes complications; pancreatic neoplasm; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; biliary tract neoplasm; biliary tract neoplasms; chromosome deletion; diabetes complications; pancreatic neoplasm; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome deletion; epilepsy, generalized; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome deletion; epilepsy, generalized; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

altitude sickness; chromosome deletion; pulmonary edema Gene Set

From GAD Gene-Disease Associations

genes associated with the disease altitude sickness; chromosome deletion; pulmonary edema in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

azoospermia; chromosome deletion Gene Set

From GAD Gene-Disease Associations

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

chromosome deletion; leukemia, lymphocytic, chronic, b-cell Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome deletion; leukemia, lymphocytic, chronic, b-cell in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Chromosome Deletion Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

chromosome 5q12 deletion sydrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 5q12 deletion sydrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; leukemia, myeloid, acute; myelodysplastic syndromes; preleukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; leukemia, myeloid, acute; myelodysplastic syndromes; preleukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain neoplasms; chromosome aberrations; chromosome abnormality; glioma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain neoplasms; chromosome aberrations; chromosome abnormality; glioma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; neoplasms, germ cell and embryonal; neoplasms, testis; testicular neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; neoplasms, germ cell and embryonal; neoplasms, testis; testicular neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

proximal chromosome 9p to q and distal chromosome 9q Gene Set

From GAD Gene-Disease Associations

genes associated with the disease proximal chromosome 9p to q and distal chromosome 9q in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; conjunctivitis; peripheral nervous system diseases; precancerous conditions; skin diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; conjunctivitis; peripheral nervous system diseases; precancerous conditions; skin diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; carcinoma, non-small-cell lung; chromosome aberrations; chromosome abnormality; lung neoplasms; neoplasm of lung Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; carcinoma, non-small-cell lung; chromosome aberrations; chromosome abnormality; lung neoplasms; neoplasm of lung in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease ahg deficiency disease; chromosome inversion; hemophilia a; hemorrhage; inversion, chromosome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; cleft lip; cleft palate Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; cleft lip; cleft palate in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; infertility, male; oligospermia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; infertility, male; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; leiomyoma; radiation injuries; uterine neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; leiomyoma; radiation injuries; uterine neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; leukemia, myeloid; myeloid leukemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; leukemia, myeloid; myeloid leukemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; complete hearing loss; deafness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; complete hearing loss; deafness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; chromosome aberrations; chromosome abnormality; dna damage; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; chromosome aberrations; chromosome abnormality; dna damage; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma; carcinoma, papillary; chromosome aberrations; chromosome abnormality; thyroid neoplasm; thyroid neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma; carcinoma, papillary; chromosome aberrations; chromosome abnormality; thyroid neoplasm; thyroid neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome inversion; hemochromatosis; inversion, chromosome; iron overload; thalassemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome inversion; hemochromatosis; inversion, chromosome; iron overload; thalassemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cadasil; chromosome aberrations; chromosome abnormality Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cadasil; chromosome aberrations; chromosome abnormality in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; hyperkeratosis, epidermolytic; precancerous conditions; skin neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; hyperkeratosis, epidermolytic; precancerous conditions; skin neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; chronic lymphocytic leukemia; leukemia, lymphocytic, chronic, b-cell Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; chronic lymphocytic leukemia; leukemia, lymphocytic, chronic, b-cell in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; lymphocytosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; lymphocytosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; hamartoma; hypothalamic diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; hamartoma; hypothalamic diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality Gene Set

From GAD Gene-Disease Associations

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

chromosome aberrations; chromosome abnormality; dna damage; neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; dna damage; neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aneuploidy; chromosome aberrations; chromosome abnormality; trisomy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aneuploidy; chromosome aberrations; chromosome abnormality; trisomy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; chromosome aberrations; chromosome abnormality; cystic fibrosis; echogenic bowel; fetal diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; chromosome aberrations; chromosome abnormality; cystic fibrosis; echogenic bowel; fetal diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; craniosynostoses; craniosynostosis; genetic diseases, inborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; craniosynostoses; craniosynostosis; genetic diseases, inborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome inversion; leukemia, myeloid; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome inversion; leukemia, myeloid; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

homologous chromosome movement towards spindle pole involved in homologous chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the homologous chromosome movement towards spindle pole involved in homologous chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

22q133 deletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 22q133 deletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Homozygous 11p15-p14 Deletion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Homozygous 11p15-p14 Deletion Syndrome from the curated CTD Gene-Disease Associations dataset.

Jacobsen Distal 11q Deletion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Jacobsen Distal 11q Deletion Syndrome from the curated CTD Gene-Disease Associations dataset.

Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type from the curated CTD Gene-Disease Associations dataset.

22q11 Deletion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease 22q11 Deletion Syndrome from the curated CTD Gene-Disease Associations dataset.

Contiguous Abcd1/Dxs1375e Deletion Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Contiguous Abcd1/Dxs1375e Deletion Syndrome from the curated CTD Gene-Disease Associations dataset.

22q11 Deletion Syndrome Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the 22q11 Deletion Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

otodental dysplasia chromsome deletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the otodental dysplasia chromsome deletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

deletion-insertion and alternative splicing Gene Set

From GAD Gene-Disease Associations

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

full-length deletion of the tyrosinase gene Gene Set

From GAD Gene-Disease Associations

genes associated with the disease full-length deletion of the tyrosinase gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

c4gene deletion Gene Set

From GAD Gene-Disease Associations

genes associated with the disease c4gene deletion in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

deletion Gene Set

From GeneRIF Biological Term Annotations

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

dna insertion or deletion binding Gene Set

From GO Molecular Function Annotations

genes performing the dna insertion or deletion binding molecular function from the curated GO Molecular Function Annotations dataset.

dinucleotide insertion or deletion binding Gene Set

From GO Molecular Function Annotations

genes performing the dinucleotide insertion or deletion binding molecular function from the curated GO Molecular Function Annotations dataset.

single base insertion or deletion binding Gene Set

From GO Molecular Function Annotations

genes performing the single base insertion or deletion binding molecular function from the curated GO Molecular Function Annotations dataset.

abnormal clonal deletion Gene Set

From MPO Gene-Phenotype Associations

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

abnormal t cell clonal deletion Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal t cell clonal deletion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

macrocytic anemia, refractory, due to 5q deletion, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the macrocytic anemia, refractory, due to 5q deletion, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

sequence-deletion Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term sequence-deletion in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant from the curated CTD Gene-Disease Associations dataset.

chromosome breakage; dna damage; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome breakage; dna damage; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease down syndrome; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; chromosome breakage; colorectal neoplasms; genital neoplasms, female; mammary neoplasms; neoplasms; nijmegen breakage syndrome; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; chromosome breakage; colorectal neoplasms; genital neoplasms, female; mammary neoplasms; neoplasms; nijmegen breakage syndrome; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; li-fraumeni syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; li-fraumeni syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; chromosome breakage; facies; growth disorders; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; chromosome breakage; facies; growth disorders; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome 17q21.31 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17q21.31 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome xp11.23-p11.22 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome xp11.23-p11.22 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

leri pleonosteosis chromosome duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the leri pleonosteosis chromosome duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 7q11.23 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 7q11.23 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 1q21.1 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 1q21.1 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 15q13.3 microdeletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 15q13.3 microdeletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome xq28 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome xq28 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 17q23.1-q23.2 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17q23.1-q23.2 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 22q13 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 22q13 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 16p11.2 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 16p11.2 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 16p13.3 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 16p13.3 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 22q11.2 microduplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 22q11.2 microduplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome xq27.3-q28 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome xq27.3-q28 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 17p13.3 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17p13.3 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 2q31.1 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 2q31.1 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

radiation sensitivity/chromosome instability syndrome, autosomal dominant Gene Set

From OMIM Gene-Disease Associations

genes associated with the radiation sensitivity/chromosome instability syndrome, autosomal dominant phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 3q29 microduplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 3q29 microduplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 4q32.1-q32.2 triplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 4q32.1-q32.2 triplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 17q12 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 17q12 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 19p13.13 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 19p13.13 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 5p13 duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 5p13 duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 8p11 myeloproliferative syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 8p11 myeloproliferative syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 3q29 microdeletion syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 3q29 microdeletion syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Lynch syndrome:Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral; persian gulf syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nocturnal myoclonus syndrome; restless legs syndrome; tourette syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meconium aspiration syndrome; resp distress syndrome neonatal; respiratory distress syndrome, newborn; sleep disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; severe acute respiratory syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

akap95 role in mitosis and chromosome dynamics Gene Set

From Biocarta Pathways

proteins participating in the akap95 role in mitosis and chromosome dynamics pathway from the Biocarta Pathways dataset.

cytoplasmic chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

sex chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the sex chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed chromosome inner kinetochore Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed chromosome inner kinetochore cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed nuclear chromosome kinetochore Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed nuclear chromosome kinetochore cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed nuclear chromosome outer kinetochore Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed nuclear chromosome outer kinetochore cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed nuclear chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed nuclear chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nuclear chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nuclear chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromosome, centromeric core domain Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromosome, centromeric core domain cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed chromosome, centromeric region Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed chromosome, centromeric region cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nuclear chromosome part Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nuclear chromosome part cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

y chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the y chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromosome, centromeric region Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromosome, centromeric region cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed chromosome kinetochore Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed chromosome kinetochore cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nuclear chromosome, telomeric region Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nuclear chromosome, telomeric region cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromosome, telomeric region Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromosome, telomeric region cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

x chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the x chromosome cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromosome passenger complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromosome passenger complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed chromosome outer kinetochore Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed chromosome outer kinetochore cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromosome Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

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

condensed nuclear chromosome, centromeric region Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed nuclear chromosome, centromeric region cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

sex chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

condensed chromosome inner kinetochore Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed chromosome inner kinetochore cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

condensed nuclear chromosome kinetochore Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed nuclear chromosome kinetochore cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

condensed nuclear chromosome outer kinetochore Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed nuclear chromosome outer kinetochore cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

polytene chromosome chromocenter Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the polytene chromosome chromocenter cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

condensed nuclear chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed nuclear chromosome cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

polytene chromosome puff Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the polytene chromosome puff cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

w chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

chloroplast chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

condensed chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

y chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

condensed chromosome, centromeric region Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed chromosome, centromeric region cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nuclear chromosome part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nuclear chromosome part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

polytene chromosome interband Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the polytene chromosome interband cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plastid chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

nuclear chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

chromosome, centromeric region Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chromosome, centromeric region cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

condensed chromosome kinetochore Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed chromosome kinetochore cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

z chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

chromosome segregation-directing complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chromosome segregation-directing complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nuclear chromosome, telomeric region Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nuclear chromosome, telomeric region cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

polytene chromosome band Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the polytene chromosome band cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

chromosome, telomeric region Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chromosome, telomeric region cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

x chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

polytene chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

chromosome passenger complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chromosome passenger complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

condensed chromosome outer kinetochore Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed chromosome outer kinetochore cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

chromosome Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

condensed nuclear chromosome, centromeric region Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed nuclear chromosome, centromeric region cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Chromosome Breakage Gene Set

From CTD Gene-Disease Associations

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

TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease TUMOR SUPPRESSOR GENE ON CHROMOSOME 11 from the curated CTD Gene-Disease Associations dataset.

Chromosome Disorders Gene Set

From CTD Gene-Disease Associations

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

Frontotemporal Dementia, Chromosome 3-Linked Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Frontotemporal Dementia, Chromosome 3-Linked from the curated CTD Gene-Disease Associations dataset.

Chromosome Aberrations Gene Set

From CTD Gene-Disease Associations

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

Heterotopia, Periventricular, associated with Chromosome 5p Anomalies Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heterotopia, Periventricular, associated with Chromosome 5p Anomalies from the curated CTD Gene-Disease Associations dataset.

Micronuclei, Chromosome-Defective Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Micronuclei, Chromosome-Defective from the curated CTD Gene-Disease Associations dataset.

Chromosome 3, monosomy 3p25 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Chromosome 3, monosomy 3p25 from the curated CTD Gene-Disease Associations dataset.

chromosome aberrations; neoplasms Gene Set

From GAD Gene-Disease Associations

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

increased chromosome aberrations and higher lung cancer risk Gene Set

From GAD Gene-Disease Associations

genes associated with the disease increased chromosome aberrations and higher lung cancer risk in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; infertility, male Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; infertility, male in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, male; sex chromosome aberrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, male; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

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

amyotrophic lateral sclerosis; chromosome disorders; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyotrophic lateral sclerosis; chromosome disorders; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; leukemia, lymphocytic, chronic, b-cell Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; leukemia, lymphocytic, chronic, b-cell in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; leukemia, myeloid, acute; primary myelofibrosis; thrombocythemia, essential; trisomy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; leukemia, myeloid, acute; primary myelofibrosis; thrombocythemia, essential; trisomy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; chromosome breakage; dna damage; mammary neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; chromosome breakage; dna damage; mammary neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

myeloproliferative disorders; philadelphia chromosome; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease myeloproliferative disorders; philadelphia chromosome; polycythemia vera; primary myelofibrosis; thrombocythemia, essential; thrombocythemia, hemorrhagic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; intestinal neoplasms; lymphoma; lymphoma, b-cell, marginal zone Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; intestinal neoplasms; lymphoma; lymphoma, b-cell, marginal zone in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; chromosome breakage; mammary neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; chromosome breakage; mammary neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; leukemia, myeloid, acute Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; leukemia, myeloid, acute in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome inversion; hemophilia a Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome inversion; hemophilia a in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome disorders; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome disorders; fam hyperbetalipoproteinaemia; hyperlipoproteinemia type ii in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome disorders; myotonic dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome disorders; myotonic dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diseases in twins; sex chromosome aberrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diseases in twins; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; leukemia, myeloid, acute; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; leukemia, myeloid, acute; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, squamous cell; chromosome breakage; head and neck neoplasms; neoplasms, second primary; squamous cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; chromosome breakage; head and neck neoplasms; neoplasms, second primary; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, squamous cell; chromosome breakage; head and neck neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, squamous cell; chromosome breakage; head and neck neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal diseases; nondisjunction, genetic; sex chromosome aberrations; trisomy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal diseases; nondisjunction, genetic; sex chromosome aberrations; trisomy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; chromosome aberrations; lung neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; chromosome aberrations; lung neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

flushing; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease flushing; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome breakage Gene Set

From GAD Gene-Disease Associations

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

chromosome aberrations Gene Set

From GAD Gene-Disease Associations

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

chromosome breakage; leukemia, myelogenous, chronic, bcr-abl positive Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome breakage; leukemia, myelogenous, chronic, bcr-abl positive in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; keratosis Gene Set

From GAD Gene-Disease Associations

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

colitis, ulcerative; crohn disease; genetic diseases, x-linked; sex chromosome aberrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colitis, ulcerative; crohn disease; genetic diseases, x-linked; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome inversion; dementia; supranuclear palsy, progressive; tauopathies Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome inversion; dementia; supranuclear palsy, progressive; tauopathies in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cd3 epsilon locus on chromosome 11 Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cd3 epsilon locus on chromosome 11 in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

asthma; chromosome inversion; Gene Set

From GAD Gene-Disease Associations

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

chromosome breakage; cleft lip; cleft palate; translocation, genetic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome breakage; cleft lip; cleft palate; translocation, genetic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, male; oligospermia; sex chromosome aberrations Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, male; oligospermia; sex chromosome aberrations in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome Gene Set

From GeneRIF Biological Term Annotations

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

chromosome separation Gene Set

From GO Biological Process Annotations

genes participating in the chromosome separation biological process from the curated GO Biological Process Annotations dataset.

mitotic chromosome movement towards spindle pole Gene Set

From GO Biological Process Annotations

genes participating in the mitotic chromosome movement towards spindle pole biological process from the curated GO Biological Process Annotations dataset.

random inactivation of x chromosome Gene Set

From GO Biological Process Annotations

genes participating in the random inactivation of x chromosome biological process from the curated GO Biological Process Annotations dataset.

meiotic chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the meiotic chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

chromosome movement towards spindle pole Gene Set

From GO Biological Process Annotations

genes participating in the chromosome movement towards spindle pole biological process from the curated GO Biological Process Annotations dataset.

meiotic chromosome condensation Gene Set

From GO Biological Process Annotations

genes participating in the meiotic chromosome condensation biological process from the curated GO Biological Process Annotations dataset.

apoptotic chromosome condensation Gene Set

From GO Biological Process Annotations

genes participating in the apoptotic chromosome condensation biological process from the curated GO Biological Process Annotations dataset.

chromosome organization Gene Set

From GO Biological Process Annotations

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

establishment of chromosome localization Gene Set

From GO Biological Process Annotations

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

establishment of protein localization to chromosome Gene Set

From GO Biological Process Annotations

genes participating in the establishment of protein localization to chromosome biological process from the curated GO Biological Process Annotations dataset.

chromosome attachment to the nuclear envelope Gene Set

From GO Biological Process Annotations

genes participating in the chromosome attachment to the nuclear envelope biological process from the curated GO Biological Process Annotations dataset.

regulation of establishment of protein localization to chromosome Gene Set

From GO Biological Process Annotations

genes participating in the regulation of establishment of protein localization to chromosome biological process from the curated GO Biological Process Annotations dataset.

mitotic chromosome condensation Gene Set

From GO Biological Process Annotations

genes participating in the mitotic chromosome condensation biological process from the curated GO Biological Process Annotations dataset.

chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

chromosome passenger complex localization to kinetochore Gene Set

From GO Biological Process Annotations

genes participating in the chromosome passenger complex localization to kinetochore biological process from the curated GO Biological Process Annotations dataset.

chromosome passenger complex localization to spindle midzone Gene Set

From GO Biological Process Annotations

genes participating in the chromosome passenger complex localization to spindle midzone biological process from the curated GO Biological Process Annotations dataset.

protein localization to chromosome, centromeric region Gene Set

From GO Biological Process Annotations

genes participating in the protein localization to chromosome, centromeric region biological process from the curated GO Biological Process Annotations dataset.

chromosome organization involved in meiosis Gene Set

From GO Biological Process Annotations

genes participating in the chromosome organization involved in meiosis biological process from the curated GO Biological Process Annotations dataset.

positive regulation of chromosome organization Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of chromosome organization biological process from the curated GO Biological Process Annotations dataset.

negative regulation of chromosome organization Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of chromosome organization biological process from the curated GO Biological Process Annotations dataset.

regulation of chromosome organization Gene Set

From GO Biological Process Annotations

genes participating in the regulation of chromosome organization biological process from the curated GO Biological Process Annotations dataset.

regulation of chromosome condensation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of chromosome condensation biological process from the curated GO Biological Process Annotations dataset.

regulation of homologous chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of homologous chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

histone h3-s10 phosphorylation involved in chromosome condensation Gene Set

From GO Biological Process Annotations

genes participating in the histone h3-s10 phosphorylation involved in chromosome condensation biological process from the curated GO Biological Process Annotations dataset.

negative regulation of chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

inactivation of x chromosome by dna methylation Gene Set

From GO Biological Process Annotations

genes participating in the inactivation of x chromosome by dna methylation biological process from the curated GO Biological Process Annotations dataset.

meiotic chromosome movement towards spindle pole Gene Set

From GO Biological Process Annotations

genes participating in the meiotic chromosome movement towards spindle pole biological process from the curated GO Biological Process Annotations dataset.

homologous chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the homologous chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

dosage compensation by inactivation of x chromosome Gene Set

From GO Biological Process Annotations

genes participating in the dosage compensation by inactivation of x chromosome biological process from the curated GO Biological Process Annotations dataset.

meiotic chromosome separation Gene Set

From GO Biological Process Annotations

genes participating in the meiotic chromosome separation biological process from the curated GO Biological Process Annotations dataset.

positive regulation of chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

male meiosis chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the male meiosis chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

male meiosis chromosome separation Gene Set

From GO Biological Process Annotations

genes participating in the male meiosis chromosome separation biological process from the curated GO Biological Process Annotations dataset.

regulation of chromosome segregation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of chromosome segregation biological process from the curated GO Biological Process Annotations dataset.

chromosome breakage Gene Set

From GO Biological Process Annotations

genes participating in the chromosome breakage biological process from the curated GO Biological Process Annotations dataset.

chromosome condensation Gene Set

From GO Biological Process Annotations

genes participating in the chromosome condensation biological process from the curated GO Biological Process Annotations dataset.

histone h3-t3 phosphorylation involved in chromosome passenger complex localization to kinetochore Gene Set

From GO Biological Process Annotations

genes participating in the histone h3-t3 phosphorylation involved in chromosome passenger complex localization to kinetochore biological process from the curated GO Biological Process Annotations dataset.

protein localization to chromosome Gene Set

From GO Biological Process Annotations

genes participating in the protein localization to chromosome biological process from the curated GO Biological Process Annotations dataset.

protein localization to chromosome, telomeric region Gene Set

From GO Biological Process Annotations

genes participating in the protein localization to chromosome, telomeric region biological process from the curated GO Biological Process Annotations dataset.

chromosome localization to nuclear envelope involved in synapsis Gene Set

From GO Biological Process Annotations

genes participating in the chromosome localization to nuclear envelope involved in synapsis biological process from the curated GO Biological Process Annotations dataset.

chromosome localization Gene Set

From GO Biological Process Annotations

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

cytoplasmic chromosome Gene Set

From GO Cellular Component Annotations

proteins localized to the cytoplasmic chromosome cellular component from the curated GO Cellular Component Annotations dataset.

sex chromosome Gene Set

From GO Cellular Component Annotations

proteins localized to the sex chromosome cellular component from the curated GO Cellular Component Annotations dataset.

condensed chromosome inner kinetochore Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed chromosome inner kinetochore cellular component from the curated GO Cellular Component Annotations dataset.

condensed nuclear chromosome kinetochore Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed nuclear chromosome kinetochore cellular component from the curated GO Cellular Component Annotations dataset.

condensed nuclear chromosome outer kinetochore Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed nuclear chromosome outer kinetochore cellular component from the curated GO Cellular Component Annotations dataset.

condensed nuclear chromosome Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed nuclear chromosome cellular component from the curated GO Cellular Component Annotations dataset.

nuclear chromosome Gene Set

From GO Cellular Component Annotations

proteins localized to the nuclear chromosome cellular component from the curated GO Cellular Component Annotations dataset.

chromosome, centromeric core domain Gene Set

From GO Cellular Component Annotations

proteins localized to the chromosome, centromeric core domain cellular component from the curated GO Cellular Component Annotations dataset.

condensed chromosome, centromeric region Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed chromosome, centromeric region cellular component from the curated GO Cellular Component Annotations dataset.

nuclear chromosome part Gene Set

From GO Cellular Component Annotations

proteins localized to the nuclear chromosome part cellular component from the curated GO Cellular Component Annotations dataset.

y chromosome Gene Set

From GO Cellular Component Annotations

proteins localized to the y chromosome cellular component from the curated GO Cellular Component Annotations dataset.

chromosome, centromeric region Gene Set

From GO Cellular Component Annotations

proteins localized to the chromosome, centromeric region cellular component from the curated GO Cellular Component Annotations dataset.

condensed chromosome Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed chromosome cellular component from the curated GO Cellular Component Annotations dataset.

mitochondrial chromosome Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial chromosome cellular component from the curated GO Cellular Component Annotations dataset.

condensed chromosome kinetochore Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed chromosome kinetochore cellular component from the curated GO Cellular Component Annotations dataset.

nuclear chromosome, telomeric region Gene Set

From GO Cellular Component Annotations

proteins localized to the nuclear chromosome, telomeric region cellular component from the curated GO Cellular Component Annotations dataset.

chromosome, telomeric region Gene Set

From GO Cellular Component Annotations

proteins localized to the chromosome, telomeric region cellular component from the curated GO Cellular Component Annotations dataset.

x chromosome Gene Set

From GO Cellular Component Annotations

proteins localized to the x chromosome cellular component from the curated GO Cellular Component Annotations dataset.

chromosome passenger complex Gene Set

From GO Cellular Component Annotations

proteins localized to the chromosome passenger complex cellular component from the curated GO Cellular Component Annotations dataset.

condensed chromosome outer kinetochore Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed chromosome outer kinetochore cellular component from the curated GO Cellular Component Annotations dataset.

chromosome Gene Set

From GO Cellular Component Annotations

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

condensed nuclear chromosome, centromeric region Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed nuclear chromosome, centromeric region cellular component from the curated GO Cellular Component Annotations dataset.

abnormality of chromosome condensation Gene Set

From HPO Gene-Disease Associations

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

increased rate of premature chromosome condensation Gene Set

From HPO Gene-Disease Associations

genes associated with the increased rate of premature chromosome condensation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of chromosome segregation Gene Set

From HPO Gene-Disease Associations

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

endopolyploidy on chromosome studies of bone marrow Gene Set

From HPO Gene-Disease Associations

genes associated with the endopolyploidy on chromosome studies of bone marrow phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of chromosome stability Gene Set

From HPO Gene-Disease Associations

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

Sex Chromosome Disorders of Sex Development Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Sex Chromosome Disorders of Sex Development phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Chromosome Fragility Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Philadelphia Chromosome Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Chromosome Inversion Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Sex Chromosome Aberrations Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Inversion, Chromosome Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Chromosome Disorders Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Chromosome Breakage Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Chromosome Aberrations Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Micronuclei, Chromosome-Defective Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Micronuclei, Chromosome-Defective phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Chromosome Duplication Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Non-structural maintenance of chromosome element 4, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Non-structural maintenance of chromosome element 4, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mini-chromosome maintenance, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mini-chromosome maintenance, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mini-chromosome maintenance complex protein 4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mini-chromosome maintenance complex protein 4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Chromosome segregation protein Spc25 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Chromosome segregation protein Spc25 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myeloid transforming gene on chromosome 16 (MTG16) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myeloid transforming gene on chromosome 16 (MTG16) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mini-chromosome maintenance complex-binding protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mini-chromosome maintenance complex-binding protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Chromosome transmission fidelity protein 8 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Chromosome transmission fidelity protein 8 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mini-chromosome maintenance, DNA-dependent ATPase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mini-chromosome maintenance, DNA-dependent ATPase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Regulator of chromosome condensation, RCC1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Regulator of chromosome condensation, RCC1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Chromosome passenger complex (CPC) protein INCENP N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Chromosome passenger complex (CPC) protein INCENP N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Myeloid transforming gene on chromosome 8 (MTG8) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Myeloid transforming gene on chromosome 8 (MTG8) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal dosage compensation, by inactivation of x chromosome Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal dosage compensation, by inactivation of x chromosome phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal mitochondrial chromosome morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal chromosome morphology Gene Set

From MPO Gene-Phenotype Associations

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

abnormal chromosome pairing during meiosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal chromosome pairing during meiosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

spontaneous chromosome breakage Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the spontaneous chromosome breakage phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal chromosome number Gene Set

From MPO Gene-Phenotype Associations

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

abnormal chromosome stability Gene Set

From MPO Gene-Phenotype Associations

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

chromosome breakage Gene Set

From MPO Gene-Phenotype Associations

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

induced chromosome breakage Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the induced chromosome breakage phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal x-y chromosome synapsis during male meiosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal x-y chromosome synapsis during male meiosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

leukemia, philadelphia chromosome-positive, resistant to imatinib Gene Set

From OMIM Gene-Disease Associations

genes associated with the leukemia, philadelphia chromosome-positive, resistant to imatinib phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome 18 pericentric inversion Gene Set

From OMIM Gene-Disease Associations

genes associated with the chromosome 18 pericentric inversion phenotype from the curated OMIM Gene-Disease Associations dataset.

chromosome Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term chromosome in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Chromosome Maintenance Gene Set

From Reactome Pathways

proteins participating in the Chromosome Maintenance pathway from the Reactome Pathways dataset.

Lynch syndrome:Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome:Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome and Noonan-related syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome and Noonan-related syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome:Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome:Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Peutz-Jeghers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

IFAP syndrome with or without BRESHECK syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the IFAP syndrome with or without BRESHECK syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I:Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I:Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome:Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Miller-McKusick-Malvaux-Syndrome (3M Syndrome) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Miller-McKusick-Malvaux-Syndrome (3M Syndrome) from the curated CTD Gene-Disease Associations dataset.

Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 from the curated CTD Gene-Disease Associations dataset.

menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease amyloidosis; behcet syndrome; familial mediterranean fever; irritable bowel syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperhomocysteinemia; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; multiple organ failure; respiratory distress syndrome, adult; wounds and injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cornelia de lange syndrome; de lange syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; aortic aneurysm, thoracic; marfan syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obstetric labor, premature; resp distress syndrome neonatal; respiratory distress syndrome, newborn; tachycardia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bronchopulmonary dysplasia; resp distress syndrome neonatal; respiratory distress syndrome, newborn; respiratory tract infections in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn Gene Set

From GAD Gene-Disease Associations

genes associated with the disease lung diseases; resp distress syndrome neonatal; respiratory distress syndrome, newborn in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; insulin resistance; obesity; polycystic ovarian syndrome; polycystic ovary syndrome; thinness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

restless legs syndrome; tourette syndrome Gene Set

From GAD Gene-Disease Associations

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

endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease endometriosis; infertility, female; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; natural menopause; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fetal alcohol syndrome; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

behcet syndrome; uveomeningoencephalitic syndrome Gene Set

From GAD Gene-Disease Associations

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

hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hyperandrogenism; hyperinsulinism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease autoimmune thyroiditis; helicobacter infections; thyroiditis, autoimmune; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility, female; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

melas syndrome; merrf syndrome Gene Set

From GAD Gene-Disease Associations

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

haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease natural menopause; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious; thrombophilia; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infertility; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infertility; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; genetic diseases, inborn; kallmann syndrome; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angelman syndrome; rett syndrome; seizures Gene Set

From GAD Gene-Disease Associations

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

arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; carpal tunnel syndrome; cryoglobulinemia; hepatitis c, chronic; sjogren's syndrome; thyroiditis, autoimmune in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease glucose intolerance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease escherichia coli infections; haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; respiratory distress syndrome, adult Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; respiratory distress syndrome, adult in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

digeorge syndrome; memory disorders; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease digeorge syndrome; memory disorders; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; heart defects, congenital; leopard syndrome; noonan syndrome; skin abnormalities in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiomyopathy, hypertrophic; hypertrophic cardiomyopathy; noonan syndrome; pulmonary valve stenosis; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; haemolytic-uraemic syndrome; hemolytic-uremic syndrome; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

metabolic syndrome ; metabolic syndrome Gene Set

From GAD Gene-Disease Associations

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

obesity; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease obesity; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

digeorge syndrome; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

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

fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral Gene Set

From GAD Gene-Disease Associations

genes associated with the disease fatigue; fatigue syndrome, chronic; fatigue syndrome; postviral in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hemolytic-uremic syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hemolytic-uremic syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal Gene Set

From GAD Gene-Disease Associations

genes associated with the disease abnormalities, multiple; congenital heart defects; craniofacial abnormalities; ectodermal dysplasia; heart defects, congenital; noonan syndrome; syndrome; turner's phenotype, karyotype normal in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease inflammation; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; fetal alcohol syndrome; fetal growth retardation; intrauterine growth retardation; syndrome; fetal, alcohol (dysmorphic) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease meckel-gruber syndrome; abnormalities, multiple; congenital abnormalities; polydactyly; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acne vulgaris; adrenal hyperplasia, congenital; congenital adrenal hyperplasia; hyperandrogenism; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hantavirus infections; hantavirus pulmonary syndrome; heart diseases; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenomatous polyposis coli; bone neoplasms; epidermal cyst; gardner syndrome; gardner's syndrome; osteoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection Gene Set

From GAD Gene-Disease Associations

genes associated with the disease acute lung injury; adult respiratory distress syndrome; respiratory distress syndrome, adult; sepsis; systemic infection in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

down syndrome; ehlers-danlos syndrome Gene Set

From GAD Gene-Disease Associations

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

arthritis; felty's syndrome; large granular lymphocyte syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arthritis; felty's syndrome; large granular lymphocyte syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease polycystic ovarian syndrome; polycystic ovary syndrome; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

insulin resistance; metabolic syndrome x; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease insulin resistance; metabolic syndrome x; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious Gene Set

From GAD Gene-Disease Associations

genes associated with the disease menarch; obesity; pof - premature ovarian failure; polycystic ovarian syndrome; polycystic ovary syndrome; primary ovarian insufficiency; puberty, delayed; puberty, precocious in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease gynecomastia; klinefelter syndrome; klinefelter's syndrome; oligospermia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adult respiratory distress syndrome; community-acquired infections; pneumonia; respiratory distress syndrome, adult; septic shock; shock, septic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease congenital heart defects; digeorge syndrome; heart defects, congenital; pharyngeal pouch; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease aneurysm, dissecting; aortic aneurysm, thoracic; loeys-dietz syndrome; marfan syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease diabetes mellitus; glucose intolerance; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hirsutism; insulin resistance; polycystic ovarian syndrome; polycystic ovary syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura Gene Set

From GAD Gene-Disease Associations

genes associated with the disease haemolytic-uraemic syndrome; hematologic diseases; hemolytic-uremic syndrome; purpura, thrombocytopenic; thrombocytopenic purpura in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dwarfism, pituitary; pituitary dwarfism; turner syndrome; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

digeorge syndrome/velocardiofacial syndrome complex-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the digeorge syndrome/velocardiofacial syndrome complex-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

ifap syndrome with or without bresheck syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the ifap syndrome with or without bresheck syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

visceral fat deposits and the metabolic syndrome Gene Set

From Biocarta Pathways

proteins participating in the visceral fat deposits and the metabolic syndrome pathway from the Biocarta Pathways dataset.

Branchiootic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, type 3, with hypocalciuria Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 3, with hypocalciuria phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal dystrophy, juvenile cataracts, and short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy, juvenile cataracts, and short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple synostoses syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple synostoses syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sjögren-Larsson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sjögren-Larsson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hennekam lymphangiectasia-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hennekam lymphangiectasia-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

UV-sensitive syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the UV-sensitive syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Foveal hypoplasia and presenile cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Short rib-polydactyly syndrome, Majewski type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib-polydactyly syndrome, Majewski type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Char syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Char syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fragile X syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fragile X syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Shwachman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Shwachman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Greig cephalopolysyndactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Greig cephalopolysyndactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Fraser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Fraser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marfan's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marfan's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Melnick-Needles syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiootorenal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiootorenal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

PTEN hamartoma tumor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lesch-Nyhan syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lesch-Nyhan syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oculofaciocardiodental syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oculofaciocardiodental syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow Sorauf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

17q2131 microdeletion syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 17q2131 microdeletion syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Desbuquois syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Desbuquois syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly/autism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly/autism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 9 Gene Set

From ClinVar Gene-Phenotype Associations

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

Nephrotic syndrome, type 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mohr-Tranebjaerg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mohr-Tranebjaerg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osteopenic nonfracture syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osteopenic nonfracture syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Barakat syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Barakat syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Raine syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Raine syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Digitorenocerebral syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Digitorenocerebral syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bare Lymphocyte Syndrome, Type II, Complementation Group D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bare Lymphocyte Syndrome, Type II, Complementation Group D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ataxia-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ataxia-telangiectasia syndrome 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.

Alstrom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alstrom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperinsulinism-hyperammonemia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperinsulinism-hyperammonemia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome II Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal multiple pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal multiple pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

MORM syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the MORM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Upshaw-Schulman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Upshaw-Schulman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary cancer-predisposing syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary cancer-predisposing syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1F Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1F phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Martsolf syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Martsolf syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1J Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1J phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Blepharophimosis-ptosis-intellectual disability syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Blepharophimosis-ptosis-intellectual disability syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Borrone Di Rocco Crovato syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Borrone Di Rocco Crovato syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hurler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hurler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Angelman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Angelman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lig4 syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lig4 syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 4B, MNGIE type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 4B, MNGIE type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rubinstein-Taybi syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rubinstein-Taybi syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hajdu-Cheney syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hajdu-Cheney syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperferritinemia cataract syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperferritinemia cataract syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Temtamy preaxial brachydactyly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Temtamy preaxial brachydactyly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperimmunoglobulin E syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperimmunoglobulin E syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bannayan-Riley-Ruvalcaba syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bannayan-Riley-Ruvalcaba syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chudley-McCullough syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chudley-McCullough syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Poretti-boltshauser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Poretti-boltshauser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bosch-boonstra-schaaf optic atrophy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bosch-boonstra-schaaf optic atrophy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frank Ter Haar syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frank Ter Haar syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Androgen resistance syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Androgen resistance syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoparathyroidism retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoparathyroidism retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holt-Oram syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holt-Oram syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Duane syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Duane syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Young Simpson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Young Simpson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Frasier syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Frasier syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meier-Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meier-Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pili torti-deafness syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pili torti-deafness syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gorlin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gorlin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2C Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2C phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2D Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2D phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carpenter syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carpenter syndrome 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.

Duane-radial ray syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Duane-radial ray syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with pre- and postsynaptic defects Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with pre- and postsynaptic defects phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cutis laxa-corneal clouding-oligophrenia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cutis laxa-corneal clouding-oligophrenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial anomalies and anterior segment dysgenesis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial anomalies and anterior segment dysgenesis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TNF receptor-associated periodic fever syndrome (TRAPS) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the TNF receptor-associated periodic fever syndrome (TRAPS) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Waardenburg syndrome type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Steel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Steel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Roberts-SC phocomelia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Roberts-SC phocomelia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bloom syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bloom syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

McLeod neuroacanthocytosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the McLeod neuroacanthocytosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebrooculofacioskeletal syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebrooculofacioskeletal syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebrooculofacioskeletal syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebrooculofacioskeletal syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nicolaides-Baraitser syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nicolaides-Baraitser syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nager syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nager syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Chédiak-Higashi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Chédiak-Higashi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kindler's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kindler's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnevale syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnevale syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kenny syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kenny syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Episodic pain syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Episodic pain syndrome, familial, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rienhoff syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rienhoff syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 2A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 2A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Weaver syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Weaver syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hereditary Paraganglioma-Pheochromocytoma Syndromes Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hereditary Paraganglioma-Pheochromocytoma Syndromes phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectodermal dysplasia/short stature syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectodermal dysplasia/short stature syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Siderius X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lymphoproliferative syndrome, ebv-associated, autosomal, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lymphoproliferative syndrome, ebv-associated, autosomal, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kohlschutter's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kohlschutter's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked mental retardation with marfanoid habitus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebro-oculo-facio-skeletal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebro-oculo-facio-skeletal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypotrichosis-lymphedema-telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypotrichosis-lymphedema-telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

LEOPARD syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the LEOPARD syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Treacher collins syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Treacher collins syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wiskott-Aldrich syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wiskott-Aldrich syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Episodic pain syndrome, familial, 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Episodic pain syndrome, familial, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyper-IgE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyper-IgE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tourette Syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tourette Syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Macrocephaly, macrosomia, facial dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Macrocephaly, macrosomia, facial dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome antenatal type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome antenatal type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome antenatal type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome antenatal type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamstorp-Wohlfart syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamstorp-Wohlfart syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Turcot syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Turcot syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sick sinus syndrome 2, autosomal dominant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sick sinus syndrome 2, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyaline fibromatosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyaline fibromatosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rigidity and multifocal seizure syndrome, lethal neonatal Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rigidity and multifocal seizure syndrome, lethal neonatal phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alopecia, neurologic defects, and endocrinopathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Alopecia, neurologic defects, and endocrinopathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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.

Weill-Marchesani-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Weill-Marchesani-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Netherton syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Netherton syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome, type 4b Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome, type 4b phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Feingold syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Feingold syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knuckle pads, deafness AND leukonychia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knuckle pads, deafness AND leukonychia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Waardenburg syndrome type 4B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Waardenburg syndrome type 4B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

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

From ClinVar Gene-Phenotype Associations

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

Usher syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Richieri Costa Pereira syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Richieri Costa Pereira syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune lymphoproliferative syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune lymphoproliferative syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bartter syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Bartter syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bartter syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, fast-channel Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, fast-channel phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wilson-Turner X-linked mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Costello syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Costello syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ochoa syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ochoa syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bruck syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bruck syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bruck syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bruck syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Achalasia-alacrima syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Achalasia-alacrima syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cryptophthalmos syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cryptophthalmos syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nijmegen breakage syndrome-like disorder Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nijmegen breakage syndrome-like disorder phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brugada syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brugada syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ovarian hyperstimulation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ovarian hyperstimulation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Otofaciocervical syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Otofaciocervical syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kaufman oculocerebrofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kaufman oculocerebrofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stickler syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Branchiooculofacial syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Branchiooculofacial syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Karak syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Karak syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Long QT syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Long QT syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky Pudlak syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky Pudlak syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tarsal carpal coalition syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tarsal carpal coalition syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jankovic Rivera syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jankovic Rivera syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nakajo syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nakajo syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Fanconi-Bickel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Fanconi-Bickel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

short QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the short QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Smith-Lemli-Opitz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Smith-Lemli-Opitz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Von Hippel-Lindau syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Von Hippel-Lindau syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Usher syndrome, type 1G Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Usher syndrome, type 1G phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome progeroid type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome progeroid type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Larsen syndrome, dominant type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Larsen syndrome, dominant type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, musculocontractural type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, musculocontractural type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Temtamy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Temtamy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Birk Barel mental retardation dysmorphism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Alport syndrome, X-linked recessive Gene Set

From ClinVar Gene-Phenotype Associations

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

Hyperphosphatasia with mental retardation syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperphosphatasia with mental retardation syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Adenomatous polyposis coli:Gardner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Adenomatous polyposis coli:Gardner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contracture syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contracture syndrome 5 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.

Leprechaunism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leprechaunism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Simpson-Golabi-Behmel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Simpson-Golabi-Behmel syndrome 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.

XFE progeroid syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the XFE progeroid syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 4 Gene Set

From ClinVar Gene-Phenotype Associations

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

Meckel syndrome type 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome due to mitochondrial complex I deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dysequilibrium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dysequilibrium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atypical hemolytic-uremic syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atypical hemolytic-uremic syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atypical hemolytic-uremic syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atypical hemolytic-uremic syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Johanson-Blizzard syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Johanson-Blizzard syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

GRACILE syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the GRACILE syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked lymphoproliferative syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked lymphoproliferative syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kowarski syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kowarski syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

ADULT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the ADULT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel-Gruber syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel-Gruber syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked lymphoproliferative syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked lymphoproliferative syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neutrophil immunodeficiency syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neutrophil immunodeficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Coffin-Lowry syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Coffin-Lowry syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Auriculocondylar syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Auriculocondylar syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, hydroxylysine-deficient Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, hydroxylysine-deficient phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pierson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pierson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pfeiffer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pfeiffer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tricho-dento-osseous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tricho-dento-osseous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mowat-Wilson syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mowat-Wilson syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 10 Gene Set

From ClinVar Gene-Phenotype Associations

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

Perrault syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jensen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jensen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Werner syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Werner syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Aarskog syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Aarskog syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enamel-renal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enamel-renal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Joubert syndrome 22 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple synostoses syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple synostoses syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Popliteal pterygium syndrome lethal type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Popliteal pterygium syndrome lethal type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Keutel syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Keutel syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins syndrome 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.

Multiple pterygium syndrome Escobar type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple pterygium syndrome Escobar type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins-like syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins-like syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pitt-Hopkins-like syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pitt-Hopkins-like syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lynch syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Congenital short bowel syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Congenital short bowel syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

C syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the C syndrome 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.

Stiff skin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stiff skin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lenz microphthalmia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lenz microphthalmia syndrome 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.

Marshall/Stickler syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall/Stickler syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Schwartz Jampel syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Schwartz Jampel syndrome type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Grebe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Grebe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Saethre-Chotzen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Saethre-Chotzen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, slow-channel congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, slow-channel congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Floating-Harbor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Floating-Harbor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warburg micro syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warburg micro syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hermansky-Pudlak syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hermansky-Pudlak syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Osler hemorrhagic telangiectasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Osler hemorrhagic telangiectasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Wieacker syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Wieacker syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kabuki make-up syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cohen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cohen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oligodontia-colorectal cancer syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oligodontia-colorectal cancer syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Filippi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Filippi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lethal congenital contractural syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lethal congenital contractural syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Primrose syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Primrose syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Perrault syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Perrault syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marshall-Smith syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marshall-Smith syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brittle cornea syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brittle cornea syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rotor syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rotor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Oral-facial-digital syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Oral-facial-digital syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acrocallosal syndrome, Schinzel type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acrocallosal syndrome, Schinzel type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gray platelet syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gray platelet syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mast syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mast syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meacham syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meacham syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stormorken syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Stormorken syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Opitz-Frias syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Opitz-Frias syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardio-facio-cutaneous syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardio-facio-cutaneous syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Kallmann syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kallmann syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Yunis Varon syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Yunis Varon syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cowden syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cowden syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mulibrey nanism syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mulibrey nanism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ohdo syndrome, X-linked Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ohdo syndrome, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, idiopathic, steroid-resistant Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, idiopathic, steroid-resistant phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Townes-Brocks-branchiootorenal-like syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Townes-Brocks-branchiootorenal-like syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SeSAME syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SeSAME syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Odontotrichomelic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Odontotrichomelic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Atrioventricular septal defect, partial, with heterotaxy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Atrioventricular septal defect, partial, with heterotaxy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Meckel syndrome, type 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Meckel syndrome, type 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Lowe syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Lowe syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, type 7B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, type 7B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ehlers-Danlos syndrome, musculocontractural type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ehlers-Danlos syndrome, musculocontractural type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Multiple congenital anomalies-hypotonia-seizures syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Multiple congenital anomalies-hypotonia-seizures syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rett syndrome, congenital variant Gene Set

From ClinVar Gene-Phenotype Associations

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

Van Maldergem syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van Maldergem syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Robinow syndrome Gene Set

From ClinVar Gene-Phenotype Associations

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

Bone marrow failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bone marrow failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Distichiasis-lymphedema syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Distichiasis-lymphedema syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Townes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Townes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neu-Laxova syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neu-Laxova syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Winchester syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Winchester syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Unverricht-Lundborg syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Unverricht-Lundborg syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Verheij syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Verheij syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rapp-Hodgkin ectodermal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rapp-Hodgkin ectodermal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Allan-Herndon-Dudley syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Allan-Herndon-Dudley syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Advanced sleep phase syndrome, familial, 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Advanced sleep phase syndrome, familial, 2 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.

Arterial tortuosity syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arterial tortuosity syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Juvenile polyposis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Juvenile polyposis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Papillon-Lefèvre syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Papillon-Lefèvre syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Brown-vialetto-van laere syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Brown-vialetto-van laere syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, epilepsy, and diabetes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, epilepsy, and diabetes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peters plus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peters plus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Ulnar-mammary syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Ulnar-mammary syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Insulin-dependent diabetes mellitus secretory diarrhea syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Insulin-dependent diabetes mellitus secretory diarrhea syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Zunich neuroectodermal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Zunich neuroectodermal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Beckwith-Wiedemann syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Beckwith-Wiedemann syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Van Maldergem Wetzburger Verloes syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van Maldergem Wetzburger Verloes syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sotos' syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sotos' syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dyggve-Melchior-Clausen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dyggve-Melchior-Clausen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Baraitser-Winter Syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Baraitser-Winter Syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Three M syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Three M syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Howel-Evans syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Howel-Evans syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Senior-Loken syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Senior-Loken syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myasthenic syndrome, congenital, with tubular aggregates 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myasthenic syndrome, congenital, with tubular aggregates 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Rhabdoid tumor predisposition syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rhabdoid tumor predisposition syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Finnish congenital nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Finnish congenital nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Tatton-Brown-rahman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Tatton-Brown-rahman syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

COACH syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the COACH syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib polydactyly syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib polydactyly syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Short rib polydactyly syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Short rib polydactyly syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enhanced s-cone syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked hydrocephalus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked hydrocephalus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Acquired long QT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Acquired long QT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Van der Woude syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Van der Woude syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sudden infant death syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sudden infant death syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Dursun syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Dursun syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carpenter syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carpenter syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Li-Fraumeni syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Li-Fraumeni syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Haim-Munk syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Haim-Munk syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Knobloch syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Knobloch syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carbohydrate-deficient glycoprotein syndrome type I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carbohydrate-deficient glycoprotein syndrome type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Advanced sleep phase syndrome, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Advanced sleep phase syndrome, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoplastic enamel-onycholysis-hypohidrosis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoplastic enamel-onycholysis-hypohidrosis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jarcho-Levin syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jarcho-Levin syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cornelia de Lange syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cornelia de Lange syndrome 5 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.

Kabuki syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Kabuki syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hay-Wells syndrome of ectodermal dysplasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hay-Wells syndrome of ectodermal dysplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Reynolds syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Reynolds syndrome 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.

Joubert syndrome 12/15, digenic Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Joubert syndrome 12/15, digenic phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Serkal syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Serkal syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Marinesco-Sjögren syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Marinesco-Sjögren syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Seckel syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Seckel syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Neu-laxova syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Neu-laxova syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Urofacial syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Urofacial syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gordon's syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gordon's syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arts syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arts syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Noonan syndrome 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Noonan syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

McKusick Kaufman syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the McKusick Kaufman syndrome 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.

Rubinstein-Taybi syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Rubinstein-Taybi syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Nephrotic syndrome, type 5, with or without ocular abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Nephrotic syndrome, type 5, with or without ocular abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

FG syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the FG syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Loeys-Dietz syndrome, type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Loeys-Dietz syndrome, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Stickler syndrome type 1 Gene Set

From ClinVar Gene-Phenotype Associations

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

Polyglandular autoimmune syndrome, type 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polyglandular autoimmune syndrome, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bernard-Soulier syndrome, type A1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bernard-Soulier syndrome, type A1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Arthrogryposis renal dysfunction cholestasis syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Arthrogryposis renal dysfunction cholestasis syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

EEM syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the EEM syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cardiofaciocutaneous syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cardiofaciocutaneous syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

TARP syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the TARP syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Drash syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Drash syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcephaly, hiatal hernia and nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcephaly, hiatal hernia and nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pallister-Hall syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pallister-Hall syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Radial aplasia-thrombocytopenia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Radial aplasia-thrombocytopenia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Griscelli syndrome type 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Griscelli syndrome type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Griscelli syndrome type 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Griscelli syndrome type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Caudal regression syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Caudal regression syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Catel Manzke syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Catel Manzke syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Trichohepatoenteric syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Trichohepatoenteric syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cockayne syndrome type A Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cockayne syndrome type A phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Warsaw breakage syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Warsaw breakage syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 12 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 15 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bardet-Biedl syndrome 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bardet-Biedl syndrome 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Popliteal pterygium syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Popliteal pterygium syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

SHORT syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the SHORT syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Jervell and Lange-Nielsen syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Jervell and Lange-Nielsen syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bainbridge-Ropers syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bainbridge-Ropers syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Orofaciodigital syndrome xiv Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Orofaciodigital syndrome xiv phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Leigh syndrome, French Canadian type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Bent bone dysplasia syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Bent bone dysplasia syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.