DisGeNET - a database of gene-disease associations

Pyramidal sign, C0234132

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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	10280
Gene Symbol:	SIGMAR1

SIGMAR1

0.120

Biomarker

phenotype

HPO

Entrez Id:	23064
Gene Symbol:	SETX

SETX

0.120

Biomarker

phenotype

BEFREE

These data suggest that ALS4 and distal hereditary motor neuronopathy with pyramidal tract signs may be one and the same disorder.

2002

Entrez Id:	26580
Gene Symbol:	BSCL2

BSCL2

0.110

Biomarker

phenotype

HPO

Entrez Id:	1593
Gene Symbol:	CYP27A1

CYP27A1

0.110

Biomarker

phenotype

HPO

Entrez Id:	4001
Gene Symbol:	LMNB1

LMNB1

0.110

Biomarker

phenotype

HPO

Entrez Id:	56997
Gene Symbol:	COQ8A

COQ8A

0.100

Biomarker

phenotype

HPO

Entrez Id:	374291
Gene Symbol:	NDUFS7

NDUFS7

0.100

Biomarker

phenotype

HPO

Entrez Id:	5696
Gene Symbol:	PSMB8

PSMB8

0.100

Biomarker

phenotype

HPO

Entrez Id:	720
Gene Symbol:	C4A

C4A

0.100

Biomarker

phenotype

HPO

Entrez Id:	51324
Gene Symbol:	SPG21

SPG21

0.100

Biomarker

phenotype

HPO

Entrez Id:	2956
Gene Symbol:	MSH6

MSH6

0.100

Biomarker

phenotype

HPO

Entrez Id:	5378
Gene Symbol:	PMS1

PMS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	2961
Gene Symbol:	GTF2E2

GTF2E2

0.100

Biomarker

phenotype

HPO

Entrez Id:	3586
Gene Symbol:	IL10

IL10

0.100

Biomarker

phenotype

HPO

Entrez Id:	404672
Gene Symbol:	GTF2H5

GTF2H5

0.100

Biomarker

phenotype

HPO

Entrez Id:	103
Gene Symbol:	ADAR

ADAR

0.100

Biomarker

phenotype

HPO

Entrez Id:	25939
Gene Symbol:	SAMHD1

SAMHD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	80169
Gene Symbol:	CTC1

CTC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	57468
Gene Symbol:	SLC12A5

SLC12A5

0.100

Biomarker

phenotype

HPO

Entrez Id:	11160
Gene Symbol:	ERLIN2

ERLIN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	10585
Gene Symbol:	POMT1

POMT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54664
Gene Symbol:	TMEM106B

TMEM106B

0.100

Biomarker

phenotype

HPO

Entrez Id:	79147
Gene Symbol:	FKRP

FKRP

0.100

Biomarker

phenotype

HPO

Entrez Id:	2517
Gene Symbol:	FUCA1

FUCA1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6315
Gene Symbol:	ATXN8OS

ATXN8OS

0.100

Biomarker

phenotype

HPO