DisGeNET - a database of gene-disease associations

LGI4, leucine rich repeat LGI family member 4, 163175

N. diseases: 43; N. variants: 9

Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT ×

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs755500591

1.000

35126873

missense variant

C/G;T

snv

8.1E-06; 4.0E-06

CUI:	C4479539
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

0.800

1.000

2017

dbSNP:

rs1064797094

1.000

35125506

missense variant

A/T

snv

7.0E-06

CUI:	C4479539
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

0.800

dbSNP:

rs1064797093

1.000

35126848

missense variant

C/G

snv

CUI:	C4479539
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

0.700

dbSNP:

rs1064797095

1.000

35126265

missense variant

C/A;T

snv

4.1E-06

CUI:	C4479539
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

0.700

dbSNP:

rs1366269616

1.000

35126416

stop gained

G/A

snv

1.4E-05

CUI:	C4479539
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

0.700

dbSNP:

rs1555734932

1.000

35134075

missense variant

A/C

snv

CUI:	C4479539
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

0.700

dbSNP:

rs775997446

1.000

35126706

stop gained

C/A;G;T

snv

7.5E-06; 2.2E-05

CUI:	C4479539
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

0.700

dbSNP:

rs779232987

1.000

35126853

missense variant

C/T

snv

2.5E-05

1.4E-05

CUI:	C4479539
Disease:	ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT

0.700