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 		0.440 CausalMutation disease CLINVAR Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis. 25899282 2015
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 CausalMutation disease CLINVAR Expression studies of a novel splice site mutation in the LIPH gene identified in a Japanese patient with autosomal recessive woolly hair. 25271093 2014
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 CausalMutation disease CLINVAR Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family. 25201209 2014
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 CausalMutation disease CLINVAR Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. 22449147 2013
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 CausalMutation disease CLINVAR Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair. 21352330 2011
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 CausalMutation disease CLINVAR Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. 20213768 2010
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 GeneticVariation disease BEFREE Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. 19766349 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 Biomarker disease BEFREE A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. 18820939 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 CausalMutation disease CLINVAR Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. 19892526 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 GeneticVariation disease BEFREE We and others have previously reported mutations in the P2RY5 gene and the LIPH gene as being causal factors of autosomal recessive hypotrichosis simplex with or without woolly hair. 19529952 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 GeneticVariation disease BEFREE Mutations in LIPH, which encodes lipase member H, have recently been shown to cause an autosomal-recessive form of HS. 19536142 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.440 GermlineCausalMutation disease ORPHANET A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 18445047 2008