| Disease ID | Source | Name | Description |
| 617394 | OMIM | Sclerosing cholangitis, neonatal (NSC) | An autosomal recessive form of liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis. Cholangiography shows patent biliary ducts, but there are bile duct irregularities. The disease is caused by variants affecting the gene represented in this entry. |
| 616217 | OMIM | Nephronophthisis 19 (NPHP19) | A form of nephronophthisis, an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease. NPHP19 patients also manifest hepatosplenomegaly, hepatic fibrosis, destruction of the bile ducts, focal bile ductal proliferation, ductal plate malformation, and cholestasis. The disease is caused by variants affecting the gene represented in this entry. |
| 610212 | OMIM | Deafness, autosomal recessive, 66 (DFNB66) | A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry. |
| 600202 | OMIM | Dyslexia 2 (DYX2) | A relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability. Disease susceptibility is associated with variants affecting the gene represented in this entry. |