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
ABCC6 ATP binding cassette subfamily C member 6	Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum Generalized arterial calcification of infancy	Gene Disease Literature AI	Variants (22620) 3D Protein Structure Gene Literature AI (1118)	Entrez: 368 Ensembl: ENSG00000091262 HGNC: 57	PubMed GARD Information
ACAT1 acetyl-CoA acetyltransferase 1	Beta-ketothiolase deficiency	Gene Disease Literature AI	Variants (8895) 3D Protein Structure Gene Literature AI (2997)	Entrez: 38 Ensembl: ENSG00000075239 HGNC: 93	PubMed GARD Information
AGK acylglycerol kinase	Total early-onset cataract Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	Gene Disease Literature AI	Variants (34466) 3D Protein Structure Gene Literature AI (127)	Entrez: 55750 Ensembl: ENSG00000006530 HGNC: 21869	PubMed GARD Information
ARNT2 aryl hydrocarbon receptor nuclear translocator 2	Septo-optic dysplasia spectrum	Gene Disease Literature AI	Variants (43786) 3D Protein Structure Gene Literature AI (170)	Entrez: 9915 Ensembl: ENSG00000172379 HGNC: 16876	PubMed GARD Information
ARVCF ARVCF delta catenin family member	22q11.2 deletion syndrome	Gene Disease Literature AI	Variants (18012) 3D Protein Structure Gene Literature AI (92)	Entrez: 421 Ensembl: ENSG00000099889 HGNC: 728	PubMed GARD Information
ATP13A2 ATPase cation transporting 13A2	Kufor-Rakeb syndrome	Gene Disease Literature AI	Variants (13089) 3D Protein Structure Gene Literature AI (381)	Entrez: 23400 Ensembl: ENSG00000159363 HGNC: 30213	PubMed GARD Information
BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2	Chondrodysplasia with joint dislocations, gPAPP type	Gene Disease Literature AI	Variants (0) 3D Protein Structure Gene Literature AI (95)	Entrez: 54928 Ensembl: ENSG00000104331 HGNC: 26019	PubMed GARD Information
CALM1 calmodulin 1	Catecholaminergic polymorphic ventricular tachycardia Romano-Ward syndrome	Gene Disease Literature AI	Variants (4743) 3D Protein Structure Gene Literature AI (5141)	Entrez: 801 Ensembl: ENSG00000198668 HGNC: 1442	PubMed GARD Information
CALM2 calmodulin 2	Catecholaminergic polymorphic ventricular tachycardia Romano-Ward syndrome	Gene Disease Literature AI	Variants (11849) 3D Protein Structure Gene Literature AI (5241)	Entrez: 805 Ensembl: ENSG00000143933 HGNC: 1445	PubMed GARD Information
CALM3 calmodulin 3	Catecholaminergic polymorphic ventricular tachycardia Romano-Ward syndrome	Gene Disease Literature AI	Variants (3997) 3D Protein Structure Gene Literature AI (5231)	Entrez: 808 Ensembl: ENSG00000160014 HGNC: 1449	PubMed GARD Information
CASQ2 calsequestrin 2	Catecholaminergic polymorphic ventricular tachycardia	Gene Disease Literature AI	Variants (28839) 3D Protein Structure Gene Literature AI (317)	Entrez: 845 Ensembl: ENSG00000118729 HGNC: 1513	PubMed GARD Information
CAT catalase	Acatalasemia	Gene Disease Literature AI	Variants (13065) 3D Protein Structure Gene Literature AI (87605)	Entrez: 847 Ensembl: ENSG00000121691 HGNC: 1516	PubMed GARD Information
CATSPER2 cation channel sperm associated 2	Deafness-infertility syndrome	Gene Disease Literature AI	Variants (14365) 3D Protein Structure Gene Literature AI (60)	Entrez: 117155 Ensembl: ENSG00000166762 HGNC: 18810	PubMed GARD Information
CBY1 chibby family member 1, beta catenin antagonist	Joubert syndrome	Gene Disease Literature AI	Variants (6703) 3D Protein Structure Gene Literature AI (76)	Entrez: 25776 Ensembl: ENSG00000100211 HGNC: 1307	PubMed GARD Information
CCN2 cellular communication network factor 2	Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis	Gene Disease Literature AI	Variants (2859) 3D Protein Structure Gene Literature AI (6414)	Entrez: 1490 Ensembl: ENSG00000118523 HGNC: 2500	PubMed GARD Information
CCN6 cellular communication network factor 6	Progressive pseudorheumatoid arthropathy of childhood	Gene Disease Literature AI	Variants (6881) 3D Protein Structure Gene Literature AI (878)	Entrez: 8838 Ensembl: ENSG00000112761 HGNC: 12771	PubMed GARD Information
CDT1 chromatin licensing and DNA replication factor 1	Ear-patella-short stature syndrome	Gene Disease Literature AI	Variants (3370) 3D Protein Structure Gene Literature AI (617)	Entrez: 81620 Ensembl: ENSG00000167513 HGNC: 24576	PubMed GARD Information
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4	Jalili syndrome	Gene Disease Literature AI	Variants (23182) 3D Protein Structure Gene Literature AI (71)	Entrez: 26504 Ensembl: ENSG00000158158 HGNC: 105	PubMed GARD Information
COMT catechol-O-methyltransferase	22q11.2 deletion syndrome	Gene Disease Literature AI	Variants (11094) 3D Protein Structure Gene Literature AI (6703)	Entrez: 1312 Ensembl: ENSG00000093010 HGNC: 2228	PubMed GARD Information
CRYAA crystallin alpha A	Early-onset anterior polar cataract Total early-onset cataract Cataract-microcornea syndrome	Gene Disease Literature AI	Variants (1789) 3D Protein Structure Gene Literature AI (216)	Entrez: 1409 Ensembl: ENSG00000160202 HGNC: 2388	PubMed GARD Information
CRYBA2 crystallin beta A2	Early-onset anterior polar cataract	Gene Disease Literature AI	Variants (2860) 3D Protein Structure Gene Literature AI (28)	Entrez: 1412 Ensembl: ENSG00000163499 HGNC: 2395	PubMed GARD Information
CRYBA4 crystallin beta A4	Cataract-microcornea syndrome	Gene Disease Literature AI	Variants (4376) 3D Protein Structure Gene Literature AI (62)	Entrez: 1413 Ensembl: ENSG00000196431 HGNC: 2396	PubMed GARD Information
CRYBB1 crystallin beta B1	Cataract-microcornea syndrome	Gene Disease Literature AI	Variants (5338) 3D Protein Structure Gene Literature AI (104)	Entrez: 1414 Ensembl: ENSG00000100122 HGNC: 2397	PubMed GARD Information
CRYBB2 crystallin beta B2	Total early-onset cataract Cerulean cataract Cataract-microcornea syndrome	Gene Disease Literature AI	Variants (7456) 3D Protein Structure Gene Literature AI (2319)	Entrez: 1415 Ensembl: ENSG00000244752 HGNC: 2398	PubMed GARD Information
CRYBB3 crystallin beta B3	Early-onset anterior polar cataract	Gene Disease Literature AI	Variants (3157) 3D Protein Structure Gene Literature AI (40)	Entrez: 1417 Ensembl: ENSG00000100053 HGNC: 2400	PubMed GARD Information

Showing 1 to 25 of 121 entries (filtered from 2,901 total entries)