DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Brachycephaly ×

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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:	6654
Gene Symbol:	SOS1

SOS1

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	112939
Gene Symbol:	NACC1

NACC1

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	6909
Gene Symbol:	TBX2

TBX2

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	57492
Gene Symbol:	ARID1B

ARID1B

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	285175
Gene Symbol:	UNC80

UNC80

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	5573
Gene Symbol:	PRKAR1A

PRKAR1A

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	166378
Gene Symbol:	SPATA5

SPATA5

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	79868
Gene Symbol:	ALG13

ALG13

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	3190
Gene Symbol:	HNRNPK

HNRNPK

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	79644
Gene Symbol:	SRD5A3

SRD5A3

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	9526
Gene Symbol:	MPDU1

MPDU1

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	55636
Gene Symbol:	CHD7

CHD7

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	80152
Gene Symbol:	CENPT

CENPT

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

GeneticVariation

CLINVAR

Entrez Id:	23126
Gene Symbol:	POGZ

POGZ

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	6925
Gene Symbol:	TCF4

TCF4

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

CausalMutation

CLINVAR

Entrez Id:	57215
Gene Symbol:	THAP11

THAP11

CUI:	C0221356
Disease:	Brachycephaly

Brachycephaly

0.100

GeneticVariation

CLINVAR