Gene: LIPH ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE Autosomal recessive wooly hair/hypotrichosis phenotypes are mostly associated with pathogenic sequence variants in LIPH and LPAR6 genes. 31077348 2019
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype. 26645693 2016
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE In addition, the present findings suggest that the mutation patterns of LIPH might be associated with hypotrichosis severity in ARWH. 24586639 2014
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. 22385360 2013
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE The severity of hypotrichosis is known to be able to change in the clinical course, and the mutation patterns of LIPH do not always correlate with the severity of hypotrichosis in ARWH caused by other mutation sites of LIPH. 22449147 2013
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE Sequence analysis of the LIPH gene revealed a novel nonsense mutation (p.Arg260X) associated with hypotrichosis without woolly hair in one family. 23066499 2012
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 Biomarker disease CTD_human Sequence analysis of the LIPH gene revealed a novel nonsense mutation (p.Arg260X) associated with hypotrichosis without woolly hair in one family. 23066499 2012
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE In the Japanese populations, most patients with congenital woolly hair/hypotrichosis possess common founder mutations in the lipase H (LIPH) gene. 22044263 2012
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE It has recently been revealed that both LPAR6 and lipase H (LIPH) mutations cause autosomal recessive woolly hair (ARWH)/hypotrichosis. 21352330 2011
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. 19262606 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. 19365138 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease LHGDN This region contains the lipase H (LIPH) gene which has been recently shown to underlie an autosomal-recessive form of hypotrichosis. 18830268 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE Mutations in lipase H (LIPH) gene, located on chromosome 3q26.33, have been shown to be responsible for LAH2 type of hypotrichosis. 19167195 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE This region contains the lipase H (LIPH) gene which has been recently shown to underlie an autosomal-recessive form of hypotrichosis. 18830268 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease LHGDN A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 18445047 2008
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease BEFREE Genotyping using microsatellite markers linked to three autosomal recessive forms of hypotrichosis (LAH1, LAH2, LAH3) showed the linkage of 2 families to the LAH2 locus and 14 to the LAH3 locus. 18461368 2008
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 GeneticVariation disease LHGDN A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. 17333281 2007
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.500 Biomarker disease HPO