S.NO | Uniprot ID | Protein Name | Sequence Length | PKD Repeats region | Disease |
1 | Q5VV43 | Dyslexia-associated protein KIAA0319 | 1072 | "DISEASE: Dyslexia 2 (DYX2) [MIM:600202]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry". | |
2 | P98161 | Polycystin-1 | 4303 | "DISEASE: Polycystic kidney disease 1 with or without polycystic liver disease (PKD1) [MIM:173900]: An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. Note=The disease is caused by mutations affecting the gene represented in this entry". | |
3 | Q8TDX9 | Polycystic kidney disease protein 1-like 1 | 2849 | "DISEASE: Heterotaxy, visceral, 8, autosomal (HTX8) [MIM:617205]: A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can been associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry". |