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
ABCC2 ATP binding cassette subfamily C member 2	Dubin-Johnson syndrome	Gene Disease Literature AI	Variants (28945) 3D Protein Structure Gene Literature AI (3805)	Entrez: 1244 Ensembl: ENSG00000023839 HGNC: 53	PubMed GARD Information
APC2 APC regulator of WNT signaling pathway 2	Sotos syndrome	Gene Disease Literature AI	Variants (10035) 3D Protein Structure Gene Literature AI (17)	Entrez: 10297 Ensembl: ENSG00000115266 HGNC: 24036	PubMed GARD Information
APOC2 apolipoprotein C2	Familial apolipoprotein C-II deficiency	Gene Disease Literature AI	Variants (105) 3D Protein Structure Gene Literature AI (1029)	Entrez: 344 Ensembl: ENSG00000234906 HGNC: 609	PubMed GARD Information
ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing	Alveolar soft tissue sarcoma	Gene Disease Literature AI	Variants (14052) 3D Protein Structure Gene Literature AI (255)	Entrez: 79058 Ensembl: ENSG00000169696 HGNC: 13825	PubMed GARD Information
BNC2 basonuclin 2	Posterior urethral valve	Gene Disease Literature AI	Variants (204636) 3D Protein Structure Gene Literature AI (117)	Entrez: 54796 Ensembl: ENSG00000173068 HGNC: 30988	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
C2CD3 C2 domain containing 3 centriole elongation regulator	Orofaciodigital syndrome type 14	Gene Disease Literature AI	Variants (40643) 3D Protein Structure Gene Literature AI (34)	Entrez: 26005 Ensembl: ENSG00000168014 HGNC: 24564	PubMed GARD Information
CC2D2A coiled-coil and C2 domain containing 2A	Meckel syndrome Joubert syndrome with hepatic defect Joubert syndrome with oculorenal defect	Gene Disease Literature AI	Variants (46986) 3D Protein Structure Gene Literature AI (88)	Entrez: 57545 Ensembl: ENSG00000048342 HGNC: 29253	PubMed GARD Information
CCDC22 coiled-coil domain containing 22	3C syndrome	Gene Disease Literature AI	Variants (3219) 3D Protein Structure Gene Literature AI (41)	Entrez: 28952 Ensembl: ENSG00000101997 HGNC: 28909	PubMed GARD Information
CCDC28B coiled-coil domain containing 28B	Bardet-biedl syndrome 1	Gene Disease Literature AI	Variants (2690) 3D Protein Structure Gene Literature AI (14)	Entrez: 79140 Ensembl: ENSG00000160050 HGNC: 28163	PubMed GARD Information
DNAJC21 DnaJ heat shock protein family (Hsp40) member C21	Shwachman-Diamond syndrome	Gene Disease Literature AI	Variants (12991) 3D Protein Structure Gene Literature AI (157)	Entrez: 134218 Ensembl: ENSG00000168724 HGNC: 27030	PubMed GARD Information
DYNC2H1 dynein cytoplasmic 2 heavy chain 1	Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Jeune syndrome Short rib-polydactyly syndrome, Majewski type	Gene Disease Literature AI	Variants (89777) 3D Protein Structure Gene Literature AI (140)	Entrez: 79659 Ensembl: ENSG00000187240 HGNC: 2962	PubMed GARD Information
DYNC2I1 dynein 2 intermediate chain 1	Short rib-polydactyly syndrome, Verma-Naumoff type Jeune syndrome	Gene Disease Literature AI	Variants (0) 3D Protein Structure Gene Literature AI (31)	Entrez: 55112 Ensembl: ENSG00000126870 HGNC: 21862	PubMed GARD Information
DYNC2I2 dynein 2 intermediate chain 2	Short rib-polydactyly syndrome, Verma-Naumoff type Jeune syndrome	Gene Disease Literature AI	Variants (0) 3D Protein Structure Gene Literature AI (35)	Entrez: 89891 Ensembl: ENSG00000119333 HGNC: 28296	PubMed GARD Information
DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1	Ellis Van Creveld syndrome Jeune syndrome	Gene Disease Literature AI	Variants (15155) 3D Protein Structure Gene Literature AI (37)	Entrez: 51626 Ensembl: ENSG00000138036 HGNC: 24595	PubMed GARD Information
ELAC2 elaC ribonuclease Z 2	Familial prostate cancer	Gene Disease Literature AI	Variants (8494) 3D Protein Structure Gene Literature AI (166)	Entrez: 60528 Ensembl: ENSG00000006744 HGNC: 14198	PubMed GARD Information
ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit	Trichothiodystrophy COFS syndrome Xeroderma pigmentosum	Gene Disease Literature AI	Variants (10162) 3D Protein Structure Gene Literature AI (2473)	Entrez: 2068 Ensembl: ENSG00000104884 HGNC: 3434	PubMed GARD Information
EVC2 EvC ciliary complex subunit 2	Acrofacial dysostosis, Weyers type Ellis Van Creveld syndrome	Gene Disease Literature AI	Variants (72754) 3D Protein Structure Gene Literature AI (111)	Entrez: 132884 Ensembl: ENSG00000173040 HGNC: 19747	PubMed GARD Information
FOXC2 forkhead box C2	Lymphedema-distichiasis syndrome	Gene Disease Literature AI	Variants (2845) 3D Protein Structure Gene Literature AI (1456)	Entrez: 2303 Ensembl: ENSG00000176692 HGNC: 3801	PubMed GARD Information
GJC2 gap junction protein gamma 2	Milroy disease	Gene Disease Literature AI	Variants (5502) 3D Protein Structure Gene Literature AI (181)	Entrez: 57165 Ensembl: ENSG00000198835 HGNC: 17494	PubMed GARD Information
IQSEC2 IQ motif and Sec7 domain ArfGEF 2	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Microduplication Xp11.22p11.23 syndrome Smith-Magenis syndrome	Gene Disease Literature AI	Variants (16905) 3D Protein Structure Gene Literature AI (132)	Entrez: 23096 Ensembl: ENSG00000124313 HGNC: 29059	PubMed GARD Information
MC2R melanocortin 2 receptor	Familial glucocorticoid deficiency	Gene Disease Literature AI	Variants (10275) 3D Protein Structure Gene Literature AI (780)	Entrez: 4158 Ensembl: ENSG00000185231 HGNC: 6930	PubMed GARD Information
MCCC2 methylcrotonyl-CoA carboxylase subunit 2	3-methylcrotonyl-CoA carboxylase deficiency	Gene Disease Literature AI	Variants (28948) 3D Protein Structure Gene Literature AI (272)	Entrez: 64087 Ensembl: ENSG00000131844 HGNC: 6937	PubMed GARD Information
NANOS1 nanos C2HC-type zinc finger 1	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Gene Disease Literature AI	Variants (2119) 3D Protein Structure Gene Literature AI (1077)	Entrez: 340719 Ensembl: ENSG00000188613 HGNC: 23044	PubMed GARD Information
NR3C2 nuclear receptor subfamily 3 group C member 2	Renal pseudohypoaldosteronism type 1	Gene Disease Literature AI	Variants (136143) 3D Protein Structure Gene Literature AI (9008)	Entrez: 4306 Ensembl: ENSG00000151623 HGNC: 7979	PubMed GARD Information

Showing 1 to 25 of 65 entries (filtered from 2,901 total entries)