Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 112802
Gene Symbol: KRT71
KRT71 		0.600 Biomarker disease GENOMICS_ENGLAND A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. 22592156 2012
Entrez Id: 112802
Gene Symbol: KRT71
KRT71 		0.600 Biomarker disease CTD_human
Entrez Id: 112802
Gene Symbol: KRT71
KRT71 		0.600 Biomarker disease HPO
Entrez Id: 10161
Gene Symbol: LPAR6
LPAR6 		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 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: 10161
Gene Symbol: LPAR6
LPAR6 		0.500 GeneticVariation disease BEFREE In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. 25119526 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: 10161
Gene Symbol: LPAR6
LPAR6 		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: 10161
Gene Symbol: LPAR6
LPAR6 		0.500 GeneticVariation disease BEFREE Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair. 22621192 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: 10161
Gene Symbol: LPAR6
LPAR6 		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 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: 10161
Gene Symbol: LPAR6
LPAR6 		0.500 GeneticVariation disease LHGDN These results show that LIPH is a second causative gene for ARWH/hypotrichosis, giving rise to a phenotype clinically indistinguishable from P2RY5 mutations. 18830268 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: 10161
Gene Symbol: LPAR6
LPAR6 		0.500 GeneticVariation disease BEFREE Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. 19529952 2009
Entrez Id: 10161
Gene Symbol: LPAR6
LPAR6 		0.500 AlteredExpression disease BEFREE Using this technique with whole genome SNP data generated from low density mapping arrays, we previously identified two genes that underlie autosomal recessive woolly hair (ARWH/hypotrichosis; OMIM278150), specifically P2RY5 and Lipase H (LIPH). 19365138 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: 10161
Gene Symbol: LPAR6
LPAR6 		0.500 GeneticVariation disease BEFREE To search for pathogenic mutations in the human P2RY5 gene in Pakistani families with autosomal recessive hereditary hypotrichosis. 19292720 2009