HCFC1, host cell factor C1, 3054

N. diseases: 100; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.310 GermlineCausalMutation disease ORPHANET A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 23000143 2012
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.310 Biomarker disease BEFREE Non-specific mental retardations (MRX) are given unique symbols for each family (MRX1, MRX2, MRX3 ...). 1605216 1992