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: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.500 Biomarker disease HPO
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.400 GermlineCausalMutation phenotype ORPHANET To identify mutations in LPAR6 and LIPH genes in 17 consanguineous Pakistani families showing features of hypotrichosis/woolly hair. 21426374 2011
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.400 Biomarker phenotype HPO
CUI: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 21426374 2011
CUI: C0002170
Disease: Alopecia
Alopecia 		0.130 GeneticVariation disease BEFREE Autosomal recessive forms of hair loss (alopecia) disorders have previously been associated with variants in at least five different genes including hairless (HR), desmoglein-4 (DSG4), desmocollin-3 (DSC3), lipase-H (LIPH), and lysophosphatidic acid receptor 6 (LPAR6). 26148547 2015
CUI: C0002170
Disease: Alopecia
Alopecia 		0.130 Biomarker disease BEFREE Mutations identified in the present study extend the body of evidence implicating LPAR6 and LIPH genes in pathogenesis of human hereditary hair loss. 21426374 2011
CUI: C0002170
Disease: Alopecia
Alopecia 		0.130 Biomarker disease BEFREE Mutations revealed in the present study extend the body of evidence implicating the P2RY5 gene in the pathogenesis of human hereditary hair loss. 19292720 2009
CUI: C0002170
Disease: Alopecia
Alopecia 		0.130 Biomarker disease HPO
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 GeneticVariation disease BEFREE A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. 22531990 2013
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 GeneticVariation disease BEFREE A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. 21070332 2011
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 AlteredExpression disease BEFREE Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. 20213768 2010
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 GeneticVariation disease BEFREE Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. 19292720 2009
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 Biomarker disease BEFREE Linkage in these families was searched by genotyping microsatellite markers linked to autosomal recessive hypotrichosis loci LAH1, LAH2 and LAH3. 19167195 2009
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 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: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 Biomarker disease BEFREE Recently, three clinically similar autosomal recessive forms of hypotrichosis [localized autosomal recessive hypotrichosis (LAH)1], LAH2 and LAH3 have been mapped on chromosomes 18q12.1, 3q27.3, and 13q14.11-q21.32, respectively. 18445047 2008
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 GeneticVariation disease BEFREE Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). 18461368 2008
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 GeneticVariation disease BEFREE Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. 18692127 2008
CUI: C1836672
Disease: Total Hypotrichosis, Mari type
Total Hypotrichosis, Mari type 		0.100 GeneticVariation disease BEFREE Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. 17594396 2007
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		0.100 Biomarker phenotype HPO
CUI: C0221228
Disease: Comedone
Comedone 		0.100 Biomarker disease HPO
CUI: C0239801
Disease: Blonde hair
Blonde hair 		0.100 Biomarker phenotype HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO