LPIN1, lipin 1, 23175

N. diseases: 86; N. variants: 12
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 Biomarker disease CLINGEN Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice. 30028636 2019
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 Biomarker disease CLINGEN Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations. 28986436 2017
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 Biomarker disease GENOMICS_ENGLAND Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia. 22481384 2012
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 Biomarker disease CLINGEN LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. 20583302 2010
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 Biomarker disease CLINGEN Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. 18817903 2008
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 Biomarker disease CTD_human
CUI: C1849386
Disease: Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute Recurrent, Autosomal Recessive 		0.700 CausalMutation disease CLINVAR