DisGeNET - a database of gene-disease associations

AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, C3542025

The Variant filter does not apply in GDA tabs

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	23261
Gene Symbol:	CAMTA1

CAMTA1

Q9Y6Y1

calmodulin binding transcription activator 1

Transcription factor

112

0.599

0.615

1.00

0.100

None

1.000

1

1

2016

2016

Entrez Id:	23362
Gene Symbol:	PSD3

PSD3

Q9NYI0

pleckstrin and Sec7 domain containing 3

28

0.691

0.423

9.5E-03

0.100

None

1.000

1

1

2016

2016

Entrez Id:	3416
Gene Symbol:	IDE

IDE

P14735

insulin degrading enzyme

Enzyme

71

0.604

0.577

6.6E-03

0.100

None

1.000

1

1

2016

2016

Entrez Id:	23025
Gene Symbol:	UNC13A

UNC13A

Q9UPW8

unc-13 homolog A

41

0.705

0.423

1.00

0.100

None

1.000

1

1

2017

2017

Entrez Id:	4336
Gene Symbol:	MOBP

MOBP

Q13875

myelin associated oligodendrocyte basic protein

Cellular structure

20

0.700

0.423

0.55

0.100

None

1.000

1

1

2017

2017

Entrez Id:	23098
Gene Symbol:	SARM1

SARM1

Q6SZW1

sterile alpha and TIR motif containing 1

40

0.682

0.346

1.7E-10

0.100

None

1.000

1

1

2017

2017