LPAR6, lysophosphatidic acid receptor 6, 10161

N. diseases: 47; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.610 GeneticVariation disease CLINVAR In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. 25119526 2014
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.610 Biomarker disease GENOMICS_ENGLAND Families linked to LAH3 locus were further subjected to screening of the P2RY5 gene with direct DNA sequencing. 18461368 2008
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.610 GeneticVariation disease UNIPROT Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. 18297072 2008
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.610 GeneticVariation disease UNIPROT G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 18297070 2008
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.610 GeneticVariation disease CLINVAR Families linked to LAH3 locus were further subjected to screening of the P2RY5 gene with direct DNA sequencing. 18461368 2008
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.610 GeneticVariation disease BEFREE Families linked to LAH3 locus were further subjected to screening of the P2RY5 gene with direct DNA sequencing. 18461368 2008
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		0.610 CausalMutation disease CLINVAR
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.510 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
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.510 GermlineCausalMutation disease ORPHANET Recently mutations in a G protein-coupled receptor gene, P2RY5, located at LAH3 locus, have been reported in several families with autosomal recessive hypotrichosis simplex and woolly hair. 18461368 2008
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		0.510 Biomarker disease CTD_human G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 18297070 2008
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		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
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 GeneticVariation disease BEFREE In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. 25119526 2014
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 GeneticVariation disease BEFREE Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. 22385360 2013
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		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
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		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
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		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
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		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
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		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
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		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
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 GeneticVariation disease LHGDN G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. 18297070 2008
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 Biomarker disease BEFREE Our findings show that mutations in P2RY5 display variable expressivity, underlying both hypotrichosis and woolly hair, and underscore the essential role of P2RY5 in the tissue integrity and maintenance of the hair follicle. 18692127 2008
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 GeneticVariation disease LHGDN Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 18461368 2008
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 GeneticVariation disease LHGDN Our findings show that mutations in P2RY5 display variable expressivity, underlying both hypotrichosis and woolly hair, and underscore the essential role of P2RY5 in the tissue integrity and maintenance of the hair follicle. 18692127 2008
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 GeneticVariation disease LHGDN [Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. 19061667 2008
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 Biomarker disease CTD_human