FIGNL1, fidgetin like 1, 63979

N. diseases: 23; N. variants: 60
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853207
rs137853207
Entrez Id: 1644;63979;100129427
Gene Symbol: DDC;FIGNL1;DDC-AS1
DDC;FIGNL1;DDC-AS1
CUI: C1291564
Disease:
Deficiency of aromatic-L-amino-acid decarboxylase
T 0.800 CausalMutation CLINVAR
dbSNP: rs137853208
rs137853208
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1291564
Disease:
Deficiency of aromatic-L-amino-acid decarboxylase
A 0.800 CausalMutation CLINVAR
dbSNP: rs137853209
rs137853209
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1291564
Disease:
Deficiency of aromatic-L-amino-acid decarboxylase
G 0.800 CausalMutation CLINVAR
dbSNP: rs137853210
rs137853210
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1291564
Disease:
Deficiency of aromatic-L-amino-acid decarboxylase
G 0.800 CausalMutation CLINVAR
dbSNP: rs137853211
rs137853211
Entrez Id: 1644;63979;100129427
Gene Symbol: DDC;FIGNL1;DDC-AS1
DDC;FIGNL1;DDC-AS1
CUI: C1291564
Disease:
Deficiency of aromatic-L-amino-acid decarboxylase
A 0.800 CausalMutation CLINVAR
dbSNP: rs137853212
rs137853212
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1291564
Disease:
Deficiency of aromatic-L-amino-acid decarboxylase
T 0.800 CausalMutation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4280803
Disease:
Decreased CSF homovanillic acid
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0013362
Disease:
Dysarthria
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0026351
Disease:
Moderate intellectual disability
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0037317
Disease:
Sleep disturbances
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0020649
Disease:
Hypotension
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0086439
Disease:
Hypokinesia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C2674608
Disease:
Feeding difficulties in infancy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0424503
Disease:
Dysmorphic facies
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1291564
Disease:
Deficiency of aromatic-L-amino-acid decarboxylase
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C4022801
Disease:
Elevated CSF dopamine level
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C0011991
Disease:
Diarrhea
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C2700617
Disease:
Irritation - emotion
A 0.700 GeneticVariation CLINVAR
dbSNP: rs142110773
rs142110773
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1836996
Disease:
Disproportionate tall stature
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554411234
rs1554411234
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1838993
Disease:
Episodic vomiting
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554411234
rs1554411234
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1291564
Disease:
Deficiency of aromatic-L-amino-acid decarboxylase
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554411234
rs1554411234
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1847515
Disease:
Paroxysmal involuntary eye movements
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554411234
rs1554411234
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C2700617
Disease:
Irritation - emotion
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554411234
rs1554411234
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1837639
Disease:
Intermittent hypothermia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs771317809
rs771317809
Entrez Id: 1644;63979
Gene Symbol: DDC;FIGNL1
DDC;FIGNL1
CUI: C1837639
Disease:
Intermittent hypothermia
T 0.700 GeneticVariation CLINVAR