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
ADCY5 adenylate cyclase 5	Benign hereditary chorea Familial dyskinesia and facial myokymia	Gene Disease Literature AI	Variants (68188) 3D Protein Structure Gene Literature AI (422)	Entrez: 111 Ensembl: ENSG00000173175 HGNC: 236	PubMed GARD Information
ATP6V0A2 ATPase H+ transporting V0 subunit a2	Wrinkly skin syndrome	Gene Disease Literature AI	Variants (14448) 3D Protein Structure Gene Literature AI (1934)	Entrez: 23545 Ensembl: ENSG00000185344 HGNC: 18481	PubMed GARD Information
CCDC103 coiled-coil domain containing 103	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (0) 3D Protein Structure Gene Literature AI (37)	Entrez: 388389 Ensembl: ENSG00000167131 HGNC: 32700	PubMed GARD Information
CCDC39 coiled-coil domain containing 39	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (88154) 3D Protein Structure Gene Literature AI (85)	Entrez: 339829 Ensembl: ENSG00000284862 HGNC: 25244	PubMed GARD Information
CCDC40 coiled-coil domain containing 40	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (20075) 3D Protein Structure Gene Literature AI (63)	Entrez: 55036 Ensembl: ENSG00000141519 HGNC: 26090	PubMed GARD Information
CCDC65 coiled-coil domain containing 65	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (8616) 3D Protein Structure Gene Literature AI (20)	Entrez: 85478 Ensembl: ENSG00000139537 HGNC: 29937	PubMed GARD Information
CCNO cyclin O	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (2654) 3D Protein Structure Gene Literature AI (50)	Entrez: 10309 Ensembl: ENSG00000152669 HGNC: 18576	PubMed GARD Information
CFAP221 cilia and flagella associated protein 221	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (39794) 3D Protein Structure Gene Literature AI (19)	Entrez: 200373 Ensembl: ENSG00000163075 HGNC: 33720	PubMed GARD Information
CFAP298 cilia and flagella associated protein 298	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (109) 3D Protein Structure Gene Literature AI (55)	Entrez: 56683 Ensembl: ENSG00000159079 HGNC: 1301	PubMed GARD Information
CFAP300 cilia and flagella associated protein 300	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (13144) 3D Protein Structure Gene Literature AI (11)	Entrez: 85016 Ensembl: ENSG00000137691 HGNC: 28188	PubMed GARD Information
COX7B cytochrome c oxidase subunit 7B	Microphthalmia with linear skin defects syndrome	Gene Disease Literature AI	Variants (2200) 3D Protein Structure Gene Literature AI (48)	Entrez: 1349 Ensembl: ENSG00000131174 HGNC: 2291	PubMed GARD Information
CSTA cystatin A	Acral peeling skin syndrome	Gene Disease Literature AI	Variants (8121) 3D Protein Structure Gene Literature AI (306)	Entrez: 1475 Ensembl: ENSG00000121552 HGNC: 2481	PubMed GARD Information
DNAAF1 dynein axonemal assembly factor 1	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (12090) 3D Protein Structure Gene Literature AI (39)	Entrez: 123872 Ensembl: ENSG00000154099 HGNC: 30539	PubMed GARD Information
DNAAF11 dynein axonemal assembly factor 11	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (0) 3D Protein Structure Gene Literature AI (40)	Entrez: 23639 Ensembl: ENSG00000129295 HGNC: 16725	PubMed GARD Information
DNAAF2 dynein axonemal assembly factor 2	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (4748) 3D Protein Structure Gene Literature AI (30)	Entrez: 55172 Ensembl: ENSG00000165506 HGNC: 20188	PubMed GARD Information
DNAAF3 dynein axonemal assembly factor 3	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (4088) 3D Protein Structure Gene Literature AI (594)	Entrez: 352909 Ensembl: ENSG00000167646 HGNC: 30492	PubMed GARD Information
DNAAF4 dynein axonemal assembly factor 4	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (30494) 3D Protein Structure Gene Literature AI (314)	Entrez: 161582 Ensembl: ENSG00000256061 HGNC: 21493	PubMed GARD Information
DNAAF5 dynein axonemal assembly factor 5	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (28750) 3D Protein Structure Gene Literature AI (14)	Entrez: 54919 Ensembl: ENSG00000164818 HGNC: 26013	PubMed GARD Information
DNAAF6 dynein axonemal assembly factor 6	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (0) 3D Protein Structure Gene Literature AI (50)	Entrez: 139212 Ensembl: ENSG00000080572 HGNC: 28570	PubMed GARD Information
DNAH1 dynein axonemal heavy chain 1	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (34493) 3D Protein Structure Gene Literature AI (85)	Entrez: 25981 Ensembl: ENSG00000114841 HGNC: 2940	PubMed GARD Information
DNAH11 dynein axonemal heavy chain 11	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (159042) 3D Protein Structure Gene Literature AI (6092)	Entrez: 8701 Ensembl: ENSG00000105877 HGNC: 2942	PubMed GARD Information
DNAH5 dynein axonemal heavy chain 5	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (99549) 3D Protein Structure Gene Literature AI (369)	Entrez: 1767 Ensembl: ENSG00000039139 HGNC: 2950	PubMed GARD Information
DNAH9 dynein axonemal heavy chain 9	Primary ciliary dyskinesia Situs inversus totalis	Gene Disease Literature AI	Variants (129453) 3D Protein Structure Gene Literature AI (76)	Entrez: 1770 Ensembl: ENSG00000007174 HGNC: 2953	PubMed GARD Information
DNAI1 dynein axonemal intermediate chain 1	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (21892) 3D Protein Structure Gene Literature AI (374)	Entrez: 27019 Ensembl: ENSG00000122735 HGNC: 2954	PubMed GARD Information
DNAI2 dynein axonemal intermediate chain 2	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (12565) 3D Protein Structure Gene Literature AI (50)	Entrez: 64446 Ensembl: ENSG00000171595 HGNC: 18744	PubMed GARD Information

Showing 1 to 25 of 70 entries (filtered from 2,901 total entries)