rs142164373, PIGO

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
0.800 GeneticVariation UNIPROT PIGO deficiency: palmoplantar keratoderma and novel mutations. 28545593 2017
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
0.800 GeneticVariation UNIPROT Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. 28337824 2017
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
0.800 GeneticVariation UNIPROT Vitamin B6-responsive epilepsy due to inherited GPI deficiency. 24049131 2013
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
0.800 GeneticVariation UNIPROT Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
CUI: C3553637
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
0.800 CausalMutation CLINVAR