Browse Genes Associated with Rare Diseases

The table below displays a list of all genes contained within RARe-SOURCE™, which are associated with rare diseases. The table lists rare diseases linked to the gene, links to related features within RARe-SOURCE™ and links to external data sources. Clicking on the gene name, displays its genomic location, disease associations obtained from other data sources, and most recent publications on the gene from PubMed. Clicking on the associated rare disease lands on the ‘Rare Disease Information’ page with specific details on the disease.

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	Gene Information	Associated Rare Diseases	Gene Disease Annotations	Gene Annotations	Gene IDs	Links

Gene Information	Associated Rare Diseases	Gene Disease Annotations	Gene Annotations	Gene IDs	Links
AAGAB alpha and gamma adaptin binding protein	Punctate palmoplantar keratoderma type 1	Gene Disease Literature AI	Variants (12967) 3D Protein Structure Gene Literature AI (691)	Entrez: 79719 Ensembl: ENSG00000103591 HGNC: 25662	PubMed GARD Information
ABCC9 ATP binding cassette subfamily C member 9	Brugada syndrome Familial atrial fibrillation Familial isolated dilated cardiomyopathy Cantú syndrome	Gene Disease Literature AI	Variants (36700) 3D Protein Structure Gene Literature AI (428)	Entrez: 10060 Ensembl: ENSG00000069431 HGNC: 60	PubMed GARD Information
ADA adenosine deaminase	Severe combined immunodeficiency due to adenosine deaminase deficiency Omenn syndrome	Gene Disease Literature AI	Variants (8789) 3D Protein Structure Gene Literature AI (8657)	Entrez: 100 Ensembl: ENSG00000196839 HGNC: 186	PubMed GARD Information
ADA2 adenosine deaminase 2	Vasculitis due to ADA2 deficiency Blackfan-Diamond anemia Sneddon syndrome	Gene Disease Literature AI	Variants (15493) 3D Protein Structure Gene Literature AI (1466)	Entrez: 51816 Ensembl: ENSG00000093072 HGNC: 1839	PubMed GARD Information
ADAM9 ADAM metallopeptidase domain 9	Cone rod dystrophy	Gene Disease Literature AI	Variants (41123) 3D Protein Structure Gene Literature AI (433)	Entrez: 8754 Ensembl: ENSG00000168615 HGNC: 216	PubMed GARD Information
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10	Weill-Marchesani syndrome	Gene Disease Literature AI	Variants (10848) 3D Protein Structure Gene Literature AI (129)	Entrez: 81794 Ensembl: ENSG00000142303 HGNC: 13201	PubMed GARD Information
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13	Congenital thrombotic thrombocytopenic purpura	Gene Disease Literature AI	Variants (16681) 3D Protein Structure Gene Literature AI (3223)	Entrez: 11093 Ensembl: ENSG00000160323 HGNC: 1366	PubMed GARD Information
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2	Dermatosparaxis Ehlers-Danlos syndrome	Gene Disease Literature AI	Variants (98060) 3D Protein Structure Gene Literature AI (201)	Entrez: 9509 Ensembl: ENSG00000087116 HGNC: 218	PubMed GARD Information
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3	Hennekam syndrome	Gene Disease Literature AI	Variants (108921) 3D Protein Structure Gene Literature AI (25)	Entrez: 9508 Ensembl: ENSG00000156140 HGNC: 219	PubMed GARD Information
ADAMTSL2 ADAMTS like 2	Geleophysic dysplasia Dermatosparaxis Ehlers-Danlos syndrome	Gene Disease Literature AI	Variants (21797) 3D Protein Structure Gene Literature AI (79)	Entrez: 9719 Ensembl: ENSG00000197859 HGNC: 14631	PubMed GARD Information
ADAMTSL4 ADAMTS like 4	Ectopia lentis 2, isolated, autosomal recessive Isolated ectopia lentis	Gene Disease Literature AI	Variants (6270) 3D Protein Structure Gene Literature AI (77)	Entrez: 54507 Ensembl: ENSG00000143382 HGNC: 19706	PubMed GARD Information
ADAR adenosine deaminase RNA specific	Aicardi-Goutières syndrome Dyschromatosis symmetrica hereditaria	Gene Disease Literature AI	Variants (20702) 3D Protein Structure Gene Literature AI (1857)	Entrez: 103 Ensembl: ENSG00000160710 HGNC: 225	PubMed GARD Information
AKAP9 A-kinase anchoring protein 9	Brugada syndrome Long qt syndrome 11 Romano-Ward syndrome	Gene Disease Literature AI	Variants (74572) 3D Protein Structure Gene Literature AI (600)	Entrez: 10142 Ensembl: ENSG00000127914 HGNC: 379	PubMed GARD Information
AP1B1 adaptor related protein complex 1 subunit beta 1	Keratitis-ichthyosis-deafness syndrome, autosomal recessive	Gene Disease Literature AI	Variants (31023) 3D Protein Structure Gene Literature AI (45)	Entrez: 162 Ensembl: ENSG00000100280 HGNC: 554	PubMed GARD Information
AP1S2 adaptor related protein complex 1 subunit sigma 2	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	Gene Disease Literature AI	Variants (4787) 3D Protein Structure Gene Literature AI (286)	Entrez: 8905 Ensembl: ENSG00000182287 HGNC: 560	PubMed GARD Information
AP1S3 adaptor related protein complex 1 subunit sigma 3	Pustulosis palmaris et plantaris Generalized pustular psoriasis	Gene Disease Literature AI	Variants (33567) 3D Protein Structure Gene Literature AI (43)	Entrez: 130340 Ensembl: ENSG00000152056 HGNC: 18971	PubMed GARD Information
AP2M1 adaptor related protein complex 2 subunit mu 1	Myoclonic-astatic epilepsy	Gene Disease Literature AI	Variants (4107) 3D Protein Structure Gene Literature AI (196)	Entrez: 1173 Ensembl: ENSG00000161203 HGNC: 564	PubMed GARD Information
AP2S1 adaptor related protein complex 2 subunit sigma 1	Familial hypocalciuric hypercalcemia type 3	Gene Disease Literature AI	Variants (5363) 3D Protein Structure Gene Literature AI (283)	Entrez: 1175 Ensembl: ENSG00000042753 HGNC: 565	PubMed GARD Information
AP3B1 adaptor related protein complex 3 subunit beta 1	Hermansky-pudlak syndrome 2	Gene Disease Literature AI	Variants (108856) 3D Protein Structure Gene Literature AI (1252)	Entrez: 8546 Ensembl: ENSG00000132842 HGNC: 566	PubMed GARD Information
AP3D1 adaptor related protein complex 3 subunit delta 1	X-linked recessive ocular albinism Ocular albinism with late-onset sensorineural deafness	Gene Disease Literature AI	Variants (22668) 3D Protein Structure Gene Literature AI (40)	Entrez: 8943 Ensembl: ENSG00000065000 HGNC: 568	PubMed GARD Information
AP4B1 adaptor related protein complex 4 subunit beta 1	Severe intellectual disability and progressive spastic paraplegia	Gene Disease Literature AI	Variants (4825) 3D Protein Structure Gene Literature AI (284)	Entrez: 10717 Ensembl: ENSG00000134262 HGNC: 572	PubMed GARD Information
AP4E1 adaptor related protein complex 4 subunit epsilon 1	Spastic paraplegia 51, autosomal recessive Severe intellectual disability and progressive spastic paraplegia	Gene Disease Literature AI	Variants (27154) 3D Protein Structure Gene Literature AI (36)	Entrez: 23431 Ensembl: ENSG00000081014 HGNC: 573	PubMed GARD Information
AP4M1 adaptor related protein complex 4 subunit mu 1	Severe intellectual disability and progressive spastic paraplegia	Gene Disease Literature AI	Variants (3113) 3D Protein Structure Gene Literature AI (65)	Entrez: 9179 Ensembl: ENSG00000221838 HGNC: 574	PubMed GARD Information
AP4S1 adaptor related protein complex 4 subunit sigma 1	Severe intellectual disability and progressive spastic paraplegia	Gene Disease Literature AI	Variants (22204) 3D Protein Structure Gene Literature AI (26)	Entrez: 11154 Ensembl: ENSG00000100478 HGNC: 575	PubMed GARD Information
APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	MODY	Gene Disease Literature AI	Variants (16102) 3D Protein Structure Gene Literature AI (369)	Entrez: 26060 Ensembl: ENSG00000157500 HGNC: 24035	PubMed GARD Information

Showing 1 to 25 of 90 entries (filtered from 2,901 total entries)