DisGeNET - a database of gene-disease associations

Impaired smooth pursuit, C1837458

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:	51412
Gene Symbol:	ACTL6B

ACTL6B

0.100

GeneticVariation

phenotype

CLINVAR

Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.

2019

Entrez Id:	5192
Gene Symbol:	PEX10

PEX10

0.100

Biomarker

phenotype

HPO

Entrez Id:	4361
Gene Symbol:	MRE11

MRE11

0.100

Biomarker

phenotype

HPO

Entrez Id:	23345
Gene Symbol:	SYNE1

SYNE1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6315
Gene Symbol:	ATXN8OS

ATXN8OS

0.100

Biomarker

phenotype

HPO

Entrez Id:	724066
Gene Symbol:	ATXN8

ATXN8

0.100

Biomarker

phenotype

HPO

Entrez Id:	2782
Gene Symbol:	GNB1

GNB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	56623
Gene Symbol:	INPP5E

INPP5E

0.100

Biomarker

phenotype

HPO

Entrez Id:	6712
Gene Symbol:	SPTBN2

SPTBN2

0.100

Biomarker

phenotype

HPO

Entrez Id:	5621
Gene Symbol:	PRNP

PRNP

0.100

Biomarker

phenotype

HPO

Entrez Id:	26278
Gene Symbol:	SACS

SACS

0.100

Biomarker

phenotype

HPO

Entrez Id:	255928
Gene Symbol:	SYT14

SYT14

0.100

Biomarker

phenotype

HPO

Entrez Id:	4125
Gene Symbol:	MAN2B1

MAN2B1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3703
Gene Symbol:	STT3A

STT3A

0.100

Biomarker

phenotype

HPO

Entrez Id:	7287
Gene Symbol:	TULP1

TULP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6785
Gene Symbol:	ELOVL4

ELOVL4

0.100

Biomarker

phenotype

HPO

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

0.100

Biomarker

phenotype

HPO

Entrez Id:	773
Gene Symbol:	CACNA1A

CACNA1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	25814
Gene Symbol:	ATXN10

ATXN10

0.100

Biomarker

phenotype

HPO

Entrez Id:	283989
Gene Symbol:	TSEN54

TSEN54

0.100

Biomarker

phenotype

HPO

Entrez Id:	10528
Gene Symbol:	NOP56

NOP56

0.100

Biomarker

phenotype

HPO

Entrez Id:	2259
Gene Symbol:	FGF14

FGF14

0.100

Biomarker

phenotype

HPO

Entrez Id:	3708
Gene Symbol:	ITPR1

ITPR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3752
Gene Symbol:	KCND3

KCND3

0.100

Biomarker

phenotype

HPO

Entrez Id:	8398
Gene Symbol:	PLA2G6

PLA2G6

0.100

Biomarker

phenotype

HPO