Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 Biomarker GENOMICS_ENGLAND Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation. 29043128

2015
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutational analysis of ACTN4, encoding α-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method. 23890478

2013
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. 23014460

2013
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis (FSGS)-linked α-actinin 4 (ACTN4) protein mutants lose ability to activate transcription by nuclear hormone receptors. 22351778

2012
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337

2012
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Crystal structure of the actin-binding domain of alpha-actinin-4 Lys255Glu mutant implicated in focal segmental glomerulosclerosis. 18164029

2008
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. 18436095

2008
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 Biomarker GENOMICS_ENGLAND Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis. 16251236

2005
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 GeneticVariation UNIPROT Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177

2000
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4551527
Disease: Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 1 		0.800 Biomarker GENOMICS_ENGLAND Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177

2000
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.500 Biomarker CTD_human

Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.320 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.310 GermlineCausalMutation ORPHANET Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. 10700177

2000
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0019193
Disease: Hepatitis, Toxic
Hepatitis, Toxic 		0.300 Biomarker CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249

2015
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.300 Biomarker CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249

2015
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C1262760
Disease: Hepatitis, Drug-Induced
Hepatitis, Drug-Induced 		0.300 Biomarker CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249

2015
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C3658290
Disease: Drug-Induced Acute Liver Injury
Drug-Induced Acute Liver Injury 		0.300 Biomarker CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249

2015
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4277682
Disease: Chemical and Drug Induced Liver Injury
Chemical and Drug Induced Liver Injury 		0.300 Biomarker CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249

2015
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C4279912
Disease: Chemically-Induced Liver Toxicity
Chemically-Induced Liver Toxicity 		0.300 Biomarker CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249

2015
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002
Entrez Id: 81
Gene Symbol: ACTN4
ACTN4
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis 		0.300 Biomarker CTD_human cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene. 12376462

2002