DisGeNET - a database of gene-disease associations

Aplasia/Hypoplasia of the cerebellar vermis, C1855676

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:	253738
Gene Symbol:	EBF3

EBF3

0.100

CausalMutation

phenotype

CLINVAR

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

2017

Entrez Id:	7287
Gene Symbol:	TULP1

TULP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	25782
Gene Symbol:	RAB3GAP2

RAB3GAP2

0.100

Biomarker

phenotype

HPO

Entrez Id:	64802
Gene Symbol:	NMNAT1

NMNAT1

0.100

Biomarker

phenotype

HPO

Entrez Id:	80055
Gene Symbol:	PGAP1

PGAP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23418
Gene Symbol:	CRB1

CRB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	1859
Gene Symbol:	DYRK1A

DYRK1A

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	9657
Gene Symbol:	IQCB1

IQCB1

0.100

Biomarker

phenotype

HPO

Entrez Id:	23746
Gene Symbol:	AIPL1

AIPL1

0.100

Biomarker

phenotype

HPO

Entrez Id:	55812
Gene Symbol:	SPATA7

SPATA7

0.100

Biomarker

phenotype

HPO

Entrez Id:	343035
Gene Symbol:	RD3

RD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	1406
Gene Symbol:	CRX

CRX

0.100

Biomarker

phenotype

HPO

Entrez Id:	9227
Gene Symbol:	LRAT

LRAT

0.100

Biomarker

phenotype

HPO

Entrez Id:	6121
Gene Symbol:	RPE65

RPE65

0.100

Biomarker

phenotype

HPO

Entrez Id:	5130
Gene Symbol:	PCYT1A

PCYT1A

0.100

Biomarker

phenotype

HPO

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

0.100

Biomarker

phenotype

HPO

Entrez Id:	85015
Gene Symbol:	USP45

USP45

0.100

Biomarker

phenotype

HPO

Entrez Id:	23322
Gene Symbol:	RPGRIP1L

RPGRIP1L

0.100

Biomarker

phenotype

HPO

Entrez Id:	95
Gene Symbol:	ACY1

ACY1

0.100

Biomarker

phenotype

HPO

Entrez Id:	392255
Gene Symbol:	GDF6

GDF6

0.100

Biomarker

phenotype

HPO

Entrez Id:	57096
Gene Symbol:	RPGRIP1

RPGRIP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3769
Gene Symbol:	KCNJ13

KCNJ13

0.100

Biomarker

phenotype

HPO

Entrez Id:	9742
Gene Symbol:	IFT140

IFT140

0.100

Biomarker

phenotype

HPO

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

0.100

Biomarker

phenotype

HPO

Entrez Id:	167691
Gene Symbol:	LCA5

LCA5

0.100

Biomarker

phenotype

HPO