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: C1519086
Disease: Pilomyxoid astrocytoma
Pilomyxoid astrocytoma 		0.310 FusionGene ORPHANET MAPK pathway activation in pilocytic astrocytoma. 22159586

2012
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549
CUI: C1519086
Disease: Pilomyxoid astrocytoma
Pilomyxoid astrocytoma 		0.310 FusionGene ORPHANET Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. 18974108

2008
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