LPAR6, lysophosphatidic acid receptor 6, 10161

N. diseases: 47; N. variants: 10
Disease: Total Hypotrichosis, Mari type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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