DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Macrotia ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	51412
Gene Symbol:	ACTL6B

ACTL6B

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

GeneticVariation

CLINVAR

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

31134736

2019

Entrez Id:	25
Gene Symbol:	ABL1

ABL1

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

CausalMutation

CLINVAR

Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

28288113

2017

Entrez Id:	2904
Gene Symbol:	GRIN2B

GRIN2B

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

GeneticVariation

CLINVAR

Entrez Id:	6792
Gene Symbol:	CDKL5

CDKL5

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

CausalMutation

CLINVAR

Entrez Id:	51633
Gene Symbol:	OTUD6B

OTUD6B

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

CausalMutation

CLINVAR

Entrez Id:	473
Gene Symbol:	RERE

RERE

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

GeneticVariation

CLINVAR

Entrez Id:	3190
Gene Symbol:	HNRNPK

HNRNPK

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

GeneticVariation

CLINVAR

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

GeneticVariation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

GeneticVariation

CLINVAR

Entrez Id:	8831
Gene Symbol:	SYNGAP1

SYNGAP1

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

CausalMutation

CLINVAR

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

CausalMutation

CLINVAR

Entrez Id:	55904
Gene Symbol:	KMT2E

KMT2E

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

GeneticVariation

CLINVAR

Entrez Id:	4669
Gene Symbol:	NAGLU

NAGLU

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

CausalMutation

CLINVAR

Entrez Id:	10847
Gene Symbol:	SRCAP

SRCAP

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

CausalMutation

CLINVAR

Entrez Id:	1654
Gene Symbol:	DDX3X

DDX3X

CUI:	C0152421
Disease:	Macrotia

Macrotia

0.100

CausalMutation

CLINVAR