Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142164373
rs142164373
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.800 GeneticVariation UNIPROT PIGO deficiency: palmoplantar keratoderma and novel mutations. 28545593 2017
dbSNP: rs142164373
rs142164373
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
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
dbSNP: rs142164373
rs142164373
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.800 GeneticVariation UNIPROT Vitamin B6-responsive epilepsy due to inherited GPI deficiency. 24049131 2013
dbSNP: rs142164373
rs142164373
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
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
dbSNP: rs142164373
rs142164373
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1214104267
rs1214104267
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 GeneticVariation UNIPROT PIGO deficiency: palmoplantar keratoderma and novel mutations. 28545593 2017
dbSNP: rs1214104267
rs1214104267
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 GeneticVariation UNIPROT Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. 28337824 2017
dbSNP: rs757441073
rs757441073
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 GeneticVariation UNIPROT Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. 28337824 2017
dbSNP: rs757441073
rs757441073
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 GeneticVariation UNIPROT PIGO deficiency: palmoplantar keratoderma and novel mutations. 28545593 2017
dbSNP: rs774508288
rs774508288
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		CG 0.700 CausalMutation CLINVAR PIGO deficiency: palmoplantar keratoderma and novel mutations. 28545593 2017
dbSNP: rs755750516
rs755750516
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		T 0.700 GeneticVariation CLINVAR PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. 24417746 2014
dbSNP: rs1214104267
rs1214104267
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 GeneticVariation UNIPROT Vitamin B6-responsive epilepsy due to inherited GPI deficiency. 24049131 2013
dbSNP: rs757441073
rs757441073
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 GeneticVariation UNIPROT Vitamin B6-responsive epilepsy due to inherited GPI deficiency. 24049131 2013
dbSNP: rs1214104267
rs1214104267
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 GeneticVariation UNIPROT Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
dbSNP: rs556766
rs556766
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs755750516
rs755750516
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		T 0.700 GeneticVariation CLINVAR Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
dbSNP: rs757441073
rs757441073
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		0.700 GeneticVariation UNIPROT Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. 22683086 2012
dbSNP: rs1391418639
rs1391418639
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs140470862
rs140470862
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C1855923
Disease:
Hyperphosphatasia with Mental Retardation 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs150734953
rs150734953
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1563996824
rs1563996824
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1563998317
rs1563998317
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs368953604
rs368953604
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs751086453
rs751086453
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs760848629
rs760848629
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
CUI: C3553637
Disease:
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 		CG 0.700 CausalMutation CLINVAR