Hyperphosphatasia with mental retardation

Disease Term Disease ID Gene Symbol Classification References Source
Hyperphosphatasia with Mental Retardation C1855923 PGAP2 Causal Pathogenic evidence from ClinVar 23561846, 23561847 ClinVar
PGAP3 Causal Pathogenic evidence from ClinVar 24439110 ClinVar
PIGO Causal Pathogenic evidence from ClinVar 22683086 ClinVar
PIGV Causal Pathogenic evidence from ClinVar 20802478, 21739589, 22228761, 22315194, 24129430 ClinVar
PIGW Causal Pathogenic evidence from ClinVar 24367057 ClinVar
PIGY Causal Pathogenic evidence from ClinVar 26293662 ClinVar
PIGL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25706356 -
Hyperphosphatasia-intellectual disability syndrome 247262 PGAP2 Causal Pathogenic evidence from ClinVar - ClinVar
PGAP3 Causal Pathogenic evidence from ClinVar - ClinVar
PIGO Causal Pathogenic evidence from ClinVar - ClinVar
PIGV Causal Pathogenic evidence from ClinVar - ClinVar
PIGW Causal Pathogenic evidence from ClinVar - ClinVar
PIGY Causal Pathogenic evidence from ClinVar - ClinVar
PIGL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 C3810354 PGAP3 Causal Pathogenic evidence from ClinVar 24439110, 27120253, 28390064, 30217754 ClinVar
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 C3553637 PIGO Causal Pathogenic evidence from ClinVar 22683086, 24049131, 24129430, 24417746, 27604308, 28337824, 28545593 ClinVar
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 C4551502 PIGV Causal Pathogenic evidence from ClinVar 20802478, 21739589, 22228761, 22315194, 24129430, 27604308 ClinVar
PIGG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 C4225201 PIGY Causal Pathogenic evidence from ClinVar 26293662 ClinVar
PYURF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -