Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.400 Biomarker CLINGEN ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy. 27106955

2016
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.400 Biomarker CLINGEN Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 26846950

2016
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.400 Biomarker CLINGEN Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice. 21441111

2012
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.400 Biomarker CLINGEN A novel myocyte-specific gene Midori promotes the differentiation of P19CL6 cells into cardiomyocytes. 11418590

2001