Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.300 GermlineCausalMutation ORPHANET Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. 30120214

2018