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
ARMC5 armadillo repeat containing 5	Cushing syndrome due to macronodular adrenal hyperplasia	Gene Disease Literature AI	Variants (4519) 3D Protein Structure Gene Literature AI (121)	Entrez: 79798 Ensembl: ENSG00000140691 HGNC: 25781	PubMed GARD Information
C5 complement C5	Complement component 5 deficiency	Gene Disease Literature AI	Variants (36574) 3D Protein Structure Gene Literature AI (7220)	Entrez: 727 Ensembl: ENSG00000106804 HGNC: 1331	PubMed GARD Information
DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit	Autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant epilepsy with auditory features Familial focal epilepsy with variable foci	Gene Disease Literature AI	Variants (42593) 3D Protein Structure Gene Literature AI (12)	Entrez: 9681 Ensembl: ENSG00000100150 HGNC: 18423	PubMed GARD Information
DNAJC5 DnaJ heat shock protein family (Hsp40) member C5	CLN4B disease	Gene Disease Literature AI	Variants (14560) 3D Protein Structure Gene Literature AI (1639)	Entrez: 80331 Ensembl: ENSG00000101152 HGNC: 16235	PubMed GARD Information
ERCC5 ERCC excision repair 5, endonuclease	COFS syndrome Xeroderma pigmentosum	Gene Disease Literature AI	Variants (8329) 3D Protein Structure Gene Literature AI (786)	Entrez: 2073 Ensembl: ENSG00000134899 HGNC: 3437	PubMed GARD Information
LRRC56 leucine rich repeat containing 56	Primary ciliary dyskinesia	Gene Disease Literature AI	Variants (9608) 3D Protein Structure Gene Literature AI (9)	Entrez: 115399 Ensembl: ENSG00000161328 HGNC: 25430	PubMed GARD Information
MUC5B mucin 5B, oligomeric mucus/gel-forming	Idiopathic pulmonary fibrosis Diffuse panbronchiolitis	Gene Disease Literature AI	Variants (24412) 3D Protein Structure Gene Literature AI (1418)	Entrez: 727897 Ensembl: ENSG00000117983 HGNC: 7516	PubMed GARD Information
SC5D sterol-C5-desaturase	Lathosterolosis	Gene Disease Literature AI	Variants (6119) 3D Protein Structure Gene Literature AI (290)	Entrez: 6309 Ensembl: ENSG00000109929 HGNC: 10547	PubMed GARD Information
SLC5A1 solute carrier family 5 member 1	Glucose-galactose malabsorption	Gene Disease Literature AI	Variants (17939) 3D Protein Structure Gene Literature AI (1905)	Entrez: 6523 Ensembl: ENSG00000100170 HGNC: 11036	PubMed GARD Information
SLC5A2 solute carrier family 5 member 2	Familial renal glucosuria	Gene Disease Literature AI	Variants (3151) 3D Protein Structure Gene Literature AI (9957)	Entrez: 6524 Ensembl: ENSG00000140675 HGNC: 11037	PubMed GARD Information
WASHC5 WASH complex subunit 5	Autosomal dominant spastic paraplegia type 8 3C syndrome	Gene Disease Literature AI	Variants (25117) 3D Protein Structure Gene Literature AI (73)	Entrez: 9897 Ensembl: ENSG00000164961 HGNC: 28984	PubMed GARD Information

Showing 1 to 11 of 11 entries (filtered from 2,901 total entries)