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: 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
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: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.310 Biomarker group CTD_human BR males are also moderately susceptible, and the susceptibility of both sexes of BR mice to liver tumors induced with N,N-diethylnitrosamine relative to the resistant C57BL/6J (B6) strain is caused by two loci designated Hcf1 and Hcf2 (hepatocarcinogenesis in females) located on chromosomes 17 and 1, respectively. 19255062 2009
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.310 Biomarker group BEFREE BR males are also moderately susceptible, and the susceptibility of both sexes of BR mice to liver tumors induced with N,N-diethylnitrosamine relative to the resistant C57BL/6J (B6) strain is caused by two loci designated Hcf1 and Hcf2 (hepatocarcinogenesis in females) located on chromosomes 17 and 1, respectively. 19255062 2009
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.310 Biomarker disease CTD_human The Hcf1 locus on chromosome 17 is the predominant modifier of liver cancer in BR mice. 19255062 2009
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.310 GeneticVariation disease BEFREE The Hcf1 locus on chromosome 17 is the predominant modifier of liver cancer in BR mice. 19255062 2009
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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 Biomarker group BEFREE HCF-1 is a conserved metazoan transcriptional co-regulator long implicated in cell proliferation and more recently in human metabolic disorders and mental retardation. 31207118 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation group BEFREE To further support the involvement of HCFC1 in neurological disorders, we report two novel HCFC1 missense variants found in individuals with intellectual disability (ID). 25740848 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation group BEFREE A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. 23000143 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 Biomarker group BEFREE The possibility of allelism with any of the five other non-specific XLMR syndromes (MRX3, MRX16, MRX25, MRX28, and MRX41) mapped to Xq28 could not be excluded. 9222958 1997
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 Biomarker group BEFREE There are now at least 8 distinct loci associated with non-specific mental retardation on the X chromosome defined, in order from pter to qter, by localisation for MRX24, MRX2, MRX10, MRX1, MRX30, MRX27, FRAXE and MRX3. 8826460 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 Biomarker group HPO
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.140 Biomarker disease BEFREE HCF-1 is a conserved metazoan transcriptional co-regulator long implicated in cell proliferation and more recently in human metabolic disorders and mental retardation. 31207118 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.140 Biomarker disease BEFREE The possibility of allelism with any of the five other non-specific XLMR syndromes (MRX3, MRX16, MRX25, MRX28, and MRX41) mapped to Xq28 could not be excluded. 9222958 1997
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.140 Biomarker disease BEFREE There are now at least 8 distinct loci associated with non-specific mental retardation on the X chromosome defined, in order from pter to qter, by localisation for MRX24, MRX2, MRX10, MRX1, MRX30, MRX27, FRAXE and MRX3. 8826460 1996
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.140 Biomarker disease BEFREE Non-specific mental retardations (MRX) are given unique symbols for each family (MRX1, MRX2, MRX3 ...). 1605216 1992
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.140 CausalMutation disease CLINVAR
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO