DisGeNET - a database of gene-disease associations

rs145465528, LAMA2

N. diseases: 7

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.

Cerebellar Ataxia

CUI:	C0007758
Disease:	Cerebellar Ataxia

120

0.882

0.240

6

129143976

missense variant

C/T

snv

6.0E-05

9.1E-05

0.700

Delayed speech and language development

CUI:	C0454644
Disease:	Delayed speech and language development

192

0.882

0.240

6

129143976

missense variant

C/T

snv

6.0E-05

9.1E-05

0.700

Little's Disease

CUI:	C0023882
Disease:	Little's Disease

6

0.882

0.240

6

129143976

missense variant

C/T

snv

6.0E-05

9.1E-05

0.700

Moderate intellectual disability

CUI:	C0026351
Disease:	Moderate intellectual disability

94

0.882

0.240

6

129143976

missense variant

C/T

snv

6.0E-05

9.1E-05

0.700

Muscle Hypertonia

CUI:	C0026826
Disease:	Muscle Hypertonia

21

0.882

0.240

6

129143976

missense variant

C/T

snv

6.0E-05

9.1E-05

0.700

Muscular dystrophy congenital, merosin negative

CUI:	C1263858
Disease:	Muscular dystrophy congenital, merosin negative

109

0.882

0.240

6

129143976

missense variant

C/T

snv

6.0E-05

9.1E-05

0.700

Seizures

CUI:	C0036572
Disease:	Seizures

553

0.882

0.240

6

129143976

missense variant

C/T

snv

6.0E-05

9.1E-05

0.700