Menkes kinky hair syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Menkes Kinky Hair Syndrome C0022716 ATP7A Causal Pathogenic evidence from ClinVar 7977350, 8981948, 10079817, 10319589, 10401004, 11092760, 11157799, 11241493, 11350187, 12221109, 12228238, 14579150, 14635105, 15372525, 15923132, 15981243, 16278898, 16435190, 16488577, 16824500, 17003121, 17009961, 17483305, 18779302, 20170900, 20831904, 21242307, 21494555, 21667063, 21738351, 22130675, 22455587, 22664332, 22695177, 22728746, 22815746, 22981378, 22992316, 23035047, 23064757, 24627433, 25003971, 25247420, 25456742, 25771438, 26199316, 28495940 ClinVar
CP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22243965 -
PGK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21494555 -