HCFC1, host cell factor C1, 3054

N. diseases: 100; N. variants: 7
Disease: MENTAL RETARDATION, X-LINKED 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		0.700 GermlineCausalMutation disease ORPHANET An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. 24011988 2013
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		0.700 Biomarker disease GENOMICS_ENGLAND An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. 24011988 2013
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		0.700 Biomarker disease GENOMICS_ENGLAND A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 23000143 2012
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		0.700 GeneticVariation disease UNIPROT A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 23000143 2012
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		0.700 Biomarker disease CTD_human
CUI: C0796208
Disease: MENTAL RETARDATION, X-LINKED 3
MENTAL RETARDATION, X-LINKED 3 		0.700 CausalMutation disease CLINVAR