rs1562203136, PHIP

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.700 CausalMutation CLINVAR
Pulmonary arterial hypertension
CUI: C2973725
Disease: Pulmonary arterial hypertension
0.700 CausalMutation CLINVAR
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
0.700 CausalMutation CLINVAR
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
0.700 CausalMutation CLINVAR
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
0.700 CausalMutation CLINVAR
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
CUI: C4693860
Disease: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
0.700 CausalMutation CLINVAR