DisGeNET - a database of gene-disease associations

Aplasia/Hypoplasia of the corpus callosum, C1861866

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:	81689
Gene Symbol:	ISCA1

ISCA1

0.100

CausalMutation

phenotype

CLINVAR

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

2017

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

0.100

Biomarker

phenotype

HPO

Entrez Id:	5147
Gene Symbol:	PDE6D

PDE6D

0.100

Biomarker

phenotype

HPO

Entrez Id:	22931
Gene Symbol:	RAB18

RAB18

0.100

Biomarker

phenotype

HPO

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

Biomarker

phenotype

HPO

Entrez Id:	6197
Gene Symbol:	RPS6KA3

RPS6KA3

0.100

Biomarker

phenotype

HPO

Entrez Id:	29072
Gene Symbol:	SETD2

SETD2

0.100

Biomarker

phenotype

HPO

Entrez Id:	154881
Gene Symbol:	KCTD7

KCTD7

0.100

Biomarker

phenotype

HPO

Entrez Id:	673
Gene Symbol:	BRAF

BRAF

0.100

Biomarker

phenotype

HPO

Entrez Id:	23096
Gene Symbol:	IQSEC2

IQSEC2

0.100

Biomarker

phenotype

HPO

Entrez Id:	403
Gene Symbol:	ARL3

ARL3

0.100

Biomarker

phenotype

HPO

Entrez Id:	23247
Gene Symbol:	KIAA0556

KIAA0556

0.100

Biomarker

phenotype

HPO

Entrez Id:	10464
Gene Symbol:	PIBF1

PIBF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	51684
Gene Symbol:	SUFU

SUFU

0.100

Biomarker

phenotype

HPO

Entrez Id:	55165
Gene Symbol:	CEP55

CEP55

0.100

Biomarker

phenotype

HPO

Entrez Id:	64327
Gene Symbol:	LMBR1

LMBR1

0.100

Biomarker

phenotype

HPO

Entrez Id:	7248
Gene Symbol:	TSC1

TSC1

0.100

Biomarker

phenotype

HPO

Entrez Id:	64324
Gene Symbol:	NSD1

NSD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	3981
Gene Symbol:	LIG4

LIG4

0.100

Biomarker

phenotype

HPO

Entrez Id:	29980
Gene Symbol:	DONSON

DONSON

0.100

Biomarker

phenotype

HPO

Entrez Id:	9851
Gene Symbol:	KIAA0753

KIAA0753

0.100

Biomarker

phenotype

HPO

Entrez Id:	65109
Gene Symbol:	UPF3B

UPF3B

0.100

Biomarker

phenotype

HPO

Entrez Id:	79583
Gene Symbol:	TMEM231

TMEM231

0.100

Biomarker

phenotype

HPO

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

0.100

Biomarker

phenotype

HPO

Entrez Id:	2301
Gene Symbol:	FOXE3

FOXE3

0.100

Biomarker

phenotype

HPO