rs1057518848, TCF4

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PITT-HOPKINS SYNDROME
CUI: C1970431
Disease: PITT-HOPKINS SYNDROME
0.700 CausalMutation CLINVAR
Tented upper lip vermilion
CUI: C1839767
Disease: Tented upper lip vermilion
0.700 CausalMutation CLINVAR
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
0.700 CausalMutation CLINVAR
Cerebral hypoplasia
CUI: C1855330
Disease: Cerebral hypoplasia
0.700 CausalMutation CLINVAR
Exaggerated cupid's bow
CUI: C1850629
Disease: Exaggerated cupid's bow
0.700 CausalMutation CLINVAR
Absent speech
CUI: C1854882
Disease: Absent speech
0.700 CausalMutation CLINVAR
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Upward slant of palpebral fissure
CUI: C0423109
Disease: Upward slant of palpebral fissure
0.700 CausalMutation CLINVAR
Strabismus
CUI: C0038379
Disease: Strabismus
0.700 CausalMutation CLINVAR
Drooping nasal tip
CUI: C0426430
Disease: Drooping nasal tip
0.700 CausalMutation CLINVAR
Prominent supraorbital ridges
CUI: C1842060
Disease: Prominent supraorbital ridges
0.700 CausalMutation CLINVAR
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
0.700 CausalMutation CLINVAR
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.700 CausalMutation CLINVAR
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR