DisGeNET - a database of gene-disease associations

rs771317809, DDC;FIGNL1

N. diseases: 6

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Deficiency of aromatic-L-amino-acid decarboxylase

CUI:	C1291564
Disease:	Deficiency of aromatic-L-amino-acid decarboxylase

16

0.925

0.080

7

50470140

missense variant

C/T

snv

8.0E-06

0.700

Episodic vomiting

CUI:	C1838993
Disease:	Episodic vomiting

10

0.925

0.080

7

50470140

missense variant

C/T

snv

8.0E-06

0.700

Intermittent hypothermia

CUI:	C1837639
Disease:	Intermittent hypothermia

2

0.925

0.080

7

50470140

missense variant

C/T

snv

8.0E-06

0.700

Irritation - emotion

CUI:	C2700617
Disease:	Irritation - emotion

14

0.925

0.080

7

50470140

missense variant

C/T

snv

8.0E-06

0.700

Paroxysmal involuntary eye movements

CUI:	C1847515
Disease:	Paroxysmal involuntary eye movements

2

0.925

0.080

7

50470140

missense variant

C/T

snv

8.0E-06

0.700

Aromatic amino acid decarboxylase deficiency

CUI:	C0342686
Disease:	Aromatic amino acid decarboxylase deficiency

7

0.925

0.080

7

50470140

missense variant

C/T

snv

8.0E-06

0.010

1.000

2018

2018