rs587783446, CHD7

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cupped ears (finding)
CUI: C1845447
Disease: Cupped ears (finding)
0.700 CausalMutation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
0.700 CausalMutation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 CausalMutation CLINVAR
Cleft upper lip
CUI: C0008924
Disease: Cleft upper lip
0.700 CausalMutation CLINVAR
hearing impairment
CUI: C1384666
Disease: hearing impairment
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
0.700 CausalMutation CLINVAR
Short neck
CUI: C0521525
Disease: Short neck
0.700 CausalMutation CLINVAR
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
0.700 CausalMutation CLINVAR
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
0.700 CausalMutation CLINVAR
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
0.700 CausalMutation CLINVAR
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
0.700 CausalMutation CLINVAR
Abnormality of cardiovascular system morphology
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
0.700 CausalMutation CLINVAR
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Esophageal Atresia
CUI: C0014850
Disease: Esophageal Atresia
0.700 CausalMutation CLINVAR
Wide nose
CUI: C0426421
Disease: Wide nose
0.700 CausalMutation CLINVAR
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
0.700 CausalMutation CLINVAR