DisGeNET - a database of gene-disease associations

rs121908686, PLA2G6;BAIAP2L2

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.

PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE

CUI:	C2751842
Disease:	PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE

7

0.882

0.120

22

38112558

missense variant

C/T

snv

9.0E-05

0.800

1.000

2009

2013

Infantile Neuroaxonal Dystrophy

CUI:	C0270724
Disease:	Infantile Neuroaxonal Dystrophy

25

0.882

0.120

22

38112558

missense variant

C/T

snv

9.0E-05

0.710

1.000

2009

2016

Gait imbalance

CUI:	C1836150
Disease:	Gait imbalance

24

0.882

0.120

22

38112558

missense variant

C/T

snv

9.0E-05

0.700

Seizures

CUI:	C0036572
Disease:	Seizures

553

0.882

0.120

22

38112558

missense variant

C/T

snv

9.0E-05

0.700

Tremor, Limb

CUI:	C0235081
Disease:	Tremor, Limb

3

0.882

0.120

22

38112558

missense variant

C/T

snv

9.0E-05

0.700

Factor V Leiden mutation

CUI:	C0584960
Disease:	Factor V Leiden mutation

46

0.882

0.120

22

38112558

missense variant

C/T

snv

9.0E-05

0.010

1.000

2005

2005