DisGeNET - a database of gene-disease associations

Malar flattening, C1858085

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:	10262
Gene Symbol:	SF3B4

SF3B4

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	10075
Gene Symbol:	HUWE1

HUWE1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	7227
Gene Symbol:	TRPS1

TRPS1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	55252
Gene Symbol:	ASXL2

ASXL2

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	8216
Gene Symbol:	LZTR1

LZTR1

0.100

CausalMutation

disease

CLINVAR

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

2018

Entrez Id:	5426
Gene Symbol:	POLE

POLE

0.100

Biomarker

disease

HPO

Entrez Id:	121340
Gene Symbol:	SP7

SP7

0.100

Biomarker

disease

HPO

Entrez Id:	4036
Gene Symbol:	LRP2

LRP2

0.100

Biomarker

disease

HPO

Entrez Id:	5189
Gene Symbol:	PEX1

PEX1

0.100

Biomarker

disease

HPO

Entrez Id:	89970
Gene Symbol:	RSPRY1

RSPRY1

0.100

Biomarker

disease

HPO

Entrez Id:	1280
Gene Symbol:	COL2A1

COL2A1

0.100

Biomarker

disease

HPO

Entrez Id:	81031
Gene Symbol:	SLC2A10

SLC2A10

0.100

Biomarker

disease

HPO

Entrez Id:	10084
Gene Symbol:	PQBP1

PQBP1

0.100

Biomarker

disease

HPO

Entrez Id:	100151683
Gene Symbol:	RNU4ATAC

RNU4ATAC

0.100

Biomarker

disease

HPO

Entrez Id:	7021
Gene Symbol:	TFAP2B

TFAP2B

0.100

Biomarker

disease

HPO

Entrez Id:	5144
Gene Symbol:	PDE4D

PDE4D

0.100

Biomarker

disease

HPO

Entrez Id:	5295
Gene Symbol:	PIK3R1

PIK3R1

0.100

Biomarker

disease

HPO

Entrez Id:	2077
Gene Symbol:	ERF

ERF

0.100

Biomarker

disease

HPO

Entrez Id:	10484
Gene Symbol:	SEC23A

SEC23A

0.100

Biomarker

disease

HPO

Entrez Id:	51132
Gene Symbol:	RLIM

RLIM

0.100

Biomarker

disease

HPO

Entrez Id:	701
Gene Symbol:	BUB1B

BUB1B

0.100

Biomarker

disease

HPO

Entrez Id:	51574
Gene Symbol:	LARP7

LARP7

0.100

Biomarker

disease

HPO