Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
Deficiency of aromatic-L-amino-acid decarboxylase
disease 0.980 None 1.000 3 11 2004 2019
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C4022801
Disease: Elevated CSF dopamine level
Elevated CSF dopamine level
phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion
phenotype 0.100 None 0 3
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
Paroxysmal involuntary eye movements
phenotype 0.100 None 0 2
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting
phenotype 0.100 None 0 2
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C1837639
Disease: Intermittent hypothermia
Intermittent hypothermia
phenotype 0.100 None 0 2
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0086439
Disease: Hypokinesia
Hypokinesia
phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.100 None 0 1
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C4280803
Disease: Decreased CSF homovanillic acid
Decreased CSF homovanillic acid
phenotype 0.100 None 0 1