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
ABCD1 ATP binding cassette subfamily D member 1	CADDS Adrenomyeloneuropathy X-linked cerebral adrenoleukodystrophy Hirschsprung disease	Gene Disease Literature AI	Variants (5065) 3D Protein Structure Gene Literature AI (1190)	Entrez: 215 Ensembl: ENSG00000101986 HGNC: 61	PubMed GARD Information
ACAD8 acyl-CoA dehydrogenase family member 8	Isobutyryl-CoA dehydrogenase deficiency	Gene Disease Literature AI	Variants (3951) 3D Protein Structure Gene Literature AI (37)	Entrez: 27034 Ensembl: ENSG00000151498 HGNC: 87	PubMed GARD Information
ACADM acyl-CoA dehydrogenase medium chain	Medium chain acyl-CoA dehydrogenase deficiency	Gene Disease Literature AI	Variants (18445) 3D Protein Structure Gene Literature AI (1264)	Entrez: 34 Ensembl: ENSG00000117054 HGNC: 89	PubMed GARD Information
ACADS acyl-CoA dehydrogenase short chain	Short chain acyl-CoA dehydrogenase deficiency	Gene Disease Literature AI	Variants (5832) 3D Protein Structure Gene Literature AI (371)	Entrez: 35 Ensembl: ENSG00000122971 HGNC: 90	PubMed GARD Information
ACADSB acyl-CoA dehydrogenase short/branched chain	2-methylbutyryl-CoA dehydrogenase deficiency	Gene Disease Literature AI	Variants (18686) 3D Protein Structure Gene Literature AI (84)	Entrez: 36 Ensembl: ENSG00000196177 HGNC: 91	PubMed GARD Information
ACADVL acyl-CoA dehydrogenase very long chain	Very long chain acyl-CoA dehydrogenase deficiency	Gene Disease Literature AI	Variants (2926) 3D Protein Structure Gene Literature AI (427)	Entrez: 37 Ensembl: ENSG00000072778 HGNC: 92	PubMed GARD Information
BCAP31 B cell receptor associated protein 31	CADDS	Gene Disease Literature AI	Variants (5252) 3D Protein Structure Gene Literature AI (237)	Entrez: 10134 Ensembl: ENSG00000185825 HGNC: 16695	PubMed GARD Information
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	CAD-CDG	Gene Disease Literature AI	Variants (13568) 3D Protein Structure Gene Literature AI (2628)	Entrez: 790 Ensembl: ENSG00000084774 HGNC: 1424	PubMed GARD Information
CDH1 cadherin 1	Blepharo-cheilo-odontic syndrome Hereditary diffuse gastric cancer Familial prostate cancer	Gene Disease Literature AI	Variants (40823) 3D Protein Structure Gene Literature AI (4734)	Entrez: 999 Ensembl: ENSG00000039068 HGNC: 1748	PubMed GARD Information
CDH11 cadherin 11	Branchioskeletogenital syndrome	Gene Disease Literature AI	Variants (64384) 3D Protein Structure Gene Literature AI (1007)	Entrez: 1009 Ensembl: ENSG00000140937 HGNC: 1750	PubMed GARD Information
CDH15 cadherin 15	Autosomal dominant non-syndromic intellectual disability	Gene Disease Literature AI	Variants (11020) 3D Protein Structure Gene Literature AI (848)	Entrez: 1013 Ensembl: ENSG00000129910 HGNC: 1754	PubMed GARD Information
CDH23 cadherin related 23	Usher syndrome type 1 Familial isolated pituitary adenoma Cushing disease Prolactinoma	Gene Disease Literature AI	Variants (162801) 3D Protein Structure Gene Literature AI (474)	Entrez: 64072 Ensembl: ENSG00000107736 HGNC: 13733	PubMed GARD Information
CDH3 cadherin 3	Hypotrichosis with juvenile macular degeneration EEM syndrome	Gene Disease Literature AI	Variants (19552) 3D Protein Structure Gene Literature AI (277)	Entrez: 1001 Ensembl: ENSG00000062038 HGNC: 1762	PubMed GARD Information
CDHR1 cadherin related family member 1	Retinitis pigmentosa Cone rod dystrophy	Gene Disease Literature AI	Variants (11062) 3D Protein Structure Gene Literature AI (71)	Entrez: 92211 Ensembl: ENSG00000148600 HGNC: 14550	PubMed GARD Information
DCHS1 dachsous cadherin-related 1	Cerebrofacioarticular syndrome Familial mitral valve prolapse	Gene Disease Literature AI	Variants (14307) 3D Protein Structure Gene Literature AI (121)	Entrez: 8642 Ensembl: ENSG00000166341 HGNC: 13681	PubMed GARD Information
FAT4 FAT atypical cadherin 4	Cerebrofacioarticular syndrome Hennekam syndrome	Gene Disease Literature AI	Variants (68197) 3D Protein Structure Gene Literature AI (223)	Entrez: 79633 Ensembl: ENSG00000196159 HGNC: 23109	PubMed GARD Information
HRAS HRas proto-oncogene, GTPase	Thyroid cancer, nonmedullary, 2 Linear nevus sebaceus syndrome Woolly hair nevus Phakomatosis pigmentokeratotica Differentiated thyroid carcinoma Costello syndrome	Gene Disease Literature AI	Variants (2908) 3D Protein Structure Gene Literature AI (3464)	Entrez: 3265 Ensembl: ENSG00000174775 HGNC: 5173	PubMed GARD Information
PCDH15 protocadherin related 15	Usher syndrome type 1	Gene Disease Literature AI	Variants (398817) 3D Protein Structure Gene Literature AI (289)	Entrez: 65217 Ensembl: ENSG00000150275 HGNC: 14674	PubMed GARD Information
PCDH19 protocadherin 19	Female restricted epilepsy with intellectual disability Dravet syndrome	Gene Disease Literature AI	Variants (21610) 3D Protein Structure Gene Literature AI (255)	Entrez: 57526 Ensembl: ENSG00000165194 HGNC: 14270	PubMed GARD Information
PER2 period circadian regulator 2	Familial advanced sleep-phase syndrome	Gene Disease Literature AI	Variants (19660) 3D Protein Structure Gene Literature AI (2388)	Entrez: 8864 Ensembl: ENSG00000132326 HGNC: 8846	PubMed GARD Information
PER3 period circadian regulator 3	Familial advanced sleep-phase syndrome	Gene Disease Literature AI	Variants (26673) 3D Protein Structure Gene Literature AI (695)	Entrez: 8863 Ensembl: ENSG00000049246 HGNC: 8847	PubMed GARD Information
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	Huriez syndrome Absence of fingerprints-congenital milia syndrome Isolated congenital adermatoglyphia	Gene Disease Literature AI	Variants (35398) 3D Protein Structure Gene Literature AI (104)	Entrez: 56916 Ensembl: ENSG00000163104 HGNC: 18398	PubMed GARD Information
TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3	Periventricular nodular heterotopia	Gene Disease Literature AI	Variants (13491) 3D Protein Structure Gene Literature AI (53)	Entrez: 160418 Ensembl: ENSG00000139324 HGNC: 26899	PubMed GARD Information

Showing 1 to 23 of 23 entries (filtered from 2,901 total entries)