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 		0.700 GeneticVariation disease BEFREE Earlier, we demonstrated that exon 4 deletion in the lipase H gene caused an ARH (hypotrichosis 7; MIM: 604379) in populations of the Volga-Ural region of Russia. 26902920 2016
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease CLINVAR A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia. 24722066 2015
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease BEFREE Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. 24628704 2015
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease CLINVAR Two cases of autosomal recessive woolly hair with LIPH gene mutations. 23590372 2013
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease BEFREE A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. 23066499 2012
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease BEFREE Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 21426374 2011
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease UNIPROT Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. 18830268 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation 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 		0.700 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 		0.700 GeneticVariation disease BEFREE Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. 19766349 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease UNIPROT Affected individuals showed homozygosity to the microsatellite markers tightly linked to LIPH gene at LAH2 locus on chromosome 3q26.33. 19167195 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease BEFREE Affected individuals showed homozygosity to the microsatellite markers tightly linked to LIPH gene at LAH2 locus on chromosome 3q26.33. 19167195 2009
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 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 		0.700 Biomarker disease BEFREE For these three loci, two genes DSG4 for LAH1 and LIPH for LAH2 have been identified. 18445047 2008
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease BEFREE A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. 17333281 2007
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 GeneticVariation disease UNIPROT Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. 17095700 2006
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 CausalMutation disease CLINVAR
Entrez Id: 200879
Gene Symbol: LIPH
LIPH 		0.700 Biomarker disease GENOMICS_ENGLAND