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
ACD ACD shelterin complex subunit and telomerase recruitment factor	Hoyeraal-Hreidarsson syndrome Familial melanoma	Gene Disease Literature AI	Variants (1765) 3D Protein Structure Gene Literature AI (767)	Entrez: 65057 Ensembl: ENSG00000102977 HGNC: 25070	PubMed GARD Information
AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	Gene Disease Literature AI	Variants (12980) 3D Protein Structure Gene Literature AI (549)	Entrez: 9255 Ensembl: ENSG00000164022 HGNC: 10648	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	Ocular albinism with late-onset sensorineural deafness X-linked recessive ocular albinism	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
APCDD1 APC down-regulated 1	Hypotrichosis simplex	Gene Disease Literature AI	Variants (10146) 3D Protein Structure Gene Literature AI (227)	Entrez: 147495 Ensembl: ENSG00000154856 HGNC: 15718	PubMed GARD Information
AR androgen receptor	Complete androgen insensitivity syndrome Kennedy disease Partial androgen insensitivity syndrome	Gene Disease Literature AI	Variants (38138) 3D Protein Structure Gene Literature AI (35446)	Entrez: 367 Ensembl: ENSG00000169083 HGNC: 644	PubMed GARD Information
BCL7B BAF chromatin remodeling complex subunit BCL7B	Williams syndrome	Gene Disease Literature AI	Variants (9729) 3D Protein Structure Gene Literature AI (37)	Entrez: 9275 Ensembl: ENSG00000106635 HGNC: 1005	PubMed GARD Information
BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	GRACILE syndrome Isolated complex III deficiency Björnstad syndrome	Gene Disease Literature AI	Variants (1647) 3D Protein Structure Gene Literature AI (7)	Entrez: 617 Ensembl: ENSG00000074582 HGNC: 1020	PubMed GARD Information
BHLHA9 basic helix-loop-helix family member a9	Mesoaxial synostotic syndactyly with phalangeal reduction Tibial aplasia-ectrodactyly syndrome Gollop-Wolfgang complex	Gene Disease Literature AI	Variants (1552) 3D Protein Structure Gene Literature AI (32)	Entrez: 727857 Ensembl: ENSG00000205899 HGNC: 35126	PubMed GARD Information
BMPR1B bone morphogenetic protein receptor type 1B	Brachydactyly type C Brachydactyly type A1 Acromesomelic dysplasia, Grebe type Fibular aplasia-complex brachydactyly syndrome Brachydactyly type A2	Gene Disease Literature AI	Variants (157663) 3D Protein Structure Gene Literature AI (593)	Entrez: 658 Ensembl: ENSG00000138696 HGNC: 1077	PubMed GARD Information
C1QA complement C1q A chain	C1q deficiency	Gene Disease Literature AI	Variants (2729) 3D Protein Structure Gene Literature AI (362)	Entrez: 712 Ensembl: ENSG00000173372 HGNC: 1241	PubMed GARD Information
C1QB complement C1q B chain	C1q deficiency	Gene Disease Literature AI	Variants (4654) 3D Protein Structure Gene Literature AI (309)	Entrez: 713 Ensembl: ENSG00000173369 HGNC: 1242	PubMed GARD Information
C1QC complement C1q C chain	C1q deficiency	Gene Disease Literature AI	Variants (3293) 3D Protein Structure Gene Literature AI (212)	Entrez: 714 Ensembl: ENSG00000159189 HGNC: 1245	PubMed GARD Information
C1R complement C1r	Periodontal Ehlers-Danlos syndrome	Gene Disease Literature AI	Variants (4529) 3D Protein Structure Gene Literature AI (923)	Entrez: 715 Ensembl: ENSG00000159403 HGNC: 1246	PubMed GARD Information
C1S complement C1s	Periodontal Ehlers-Danlos syndrome	Gene Disease Literature AI	Variants (19941) 3D Protein Structure Gene Literature AI (1799)	Entrez: 716 Ensembl: ENSG00000182326 HGNC: 1247	PubMed GARD Information
C2 complement C2	Complement component 2 deficiency	Gene Disease Literature AI	Variants (10631) 3D Protein Structure Gene Literature AI (6115)	Entrez: 717 Ensembl: ENSG00000166278 HGNC: 1248	PubMed GARD Information

Showing 1 to 25 of 197 entries (filtered from 2,901 total entries)