rs771409809, WFS1

N. diseases: 19
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dilatation of ureter
CUI: C0521620
Disease: Dilatation of ureter
0.700 CausalMutation CLINVAR
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
0.700 CausalMutation CLINVAR
Small hand
CUI: C0575802
Disease: Small hand
0.700 CausalMutation CLINVAR
Abnormality of the vertebral column
CUI: C4021789
Disease: Abnormality of the vertebral column
0.700 CausalMutation CLINVAR
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
0.700 CausalMutation CLINVAR
Nyctalopia
CUI: C0028077
Disease: Nyctalopia
0.700 CausalMutation CLINVAR
Arachnodactyly
CUI: C0003706
Disease: Arachnodactyly
0.700 CausalMutation CLINVAR
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
0.700 CausalMutation CLINVAR
Abnormality of the cervical spine
CUI: C1852464
Disease: Abnormality of the cervical spine
0.700 CausalMutation CLINVAR
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
0.700 CausalMutation CLINVAR
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
0.700 CausalMutation CLINVAR
Microglossia
CUI: C0025988
Disease: Microglossia
0.700 CausalMutation CLINVAR
Abnormality of the diaphragm
CUI: C1848873
Disease: Abnormality of the diaphragm
0.700 CausalMutation CLINVAR
Globe retraction and deviation on adduction
CUI: C1846464
Disease: Globe retraction and deviation on adduction
0.700 CausalMutation CLINVAR
Diaphragmatic Eventration
CUI: C0011981
Disease: Diaphragmatic Eventration
0.700 CausalMutation CLINVAR
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
0.700 CausalMutation CLINVAR
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
0.700 CausalMutation CLINVAR
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR