rs142110773, FIGNL1;DDC

N. diseases: 13
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Decreased CSF homovanillic acid
CUI: C4280803
Disease: Decreased CSF homovanillic acid
2 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Deficiency of aromatic-L-amino-acid decarboxylase
CUI: C1291564
Disease: Deficiency of aromatic-L-amino-acid decarboxylase
16 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Diarrhea
CUI: C0011991
Disease: Diarrhea
63 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Dysarthria
CUI: C0013362
Disease: Dysarthria
54 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Elevated CSF dopamine level
CUI: C4022801
Disease: Elevated CSF dopamine level
1 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Hypokinesia
CUI: C0086439
Disease: Hypokinesia
2 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Hypotension
CUI: C0020649
Disease: Hypotension
2 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Irritation - emotion
CUI: C2700617
Disease: Irritation - emotion
14 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0