HEPHL1, hephaestin like 1, 341208

N. diseases: 21; N. variants: 0
Disease: Pili torti developmental delay neurological abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849811
Disease: Pili torti developmental delay neurological abnormalities
Pili torti developmental delay neurological abnormalities 		0.300 GeneticVariation phenotype UNIPROT Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. 31125343 2019