DisGeNET - a database of gene-disease associations

Micrognathism, C0025990

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:	144568
Gene Symbol:	A2ML1

A2ML1

0.100

Biomarker

disease

HPO

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

0.100

Biomarker

disease

HPO

Entrez Id:	25
Gene Symbol:	ABL1

ABL1

0.100

CausalMutation

disease

CLINVAR

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

2017

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

0.100

Biomarker

disease

HPO

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

0.100

Biomarker

disease

HPO

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

0.100

Biomarker

disease

HPO

Entrez Id:	72
Gene Symbol:	ACTG2

ACTG2

0.100

Biomarker

disease

HPO

Entrez Id:	9509
Gene Symbol:	ADAMTS2

ADAMTS2

0.100

Biomarker

disease

HPO

Entrez Id:	57211
Gene Symbol:	ADGRG6

ADGRG6

0.100

Biomarker

disease

HPO

Entrez Id:	23394
Gene Symbol:	ADNP

ADNP

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	165
Gene Symbol:	AEBP1

AEBP1

0.100

Biomarker

disease

HPO

Entrez Id:	27245
Gene Symbol:	AHDC1

AHDC1

0.100

Biomarker

disease

HPO

Entrez Id:	207
Gene Symbol:	AKT1

AKT1

0.100

Biomarker

disease

HPO

Entrez Id:	56052
Gene Symbol:	ALG1

ALG1

0.100

Biomarker

disease

HPO

Entrez Id:	79868
Gene Symbol:	ALG13

ALG13

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	79053
Gene Symbol:	ALG8

ALG8

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	79796
Gene Symbol:	ALG9

ALG9

0.100

Biomarker

disease

HPO

Entrez Id:	60529
Gene Symbol:	ALX4

ALX4

0.100

Biomarker

disease

HPO

Entrez Id:	139285
Gene Symbol:	AMER1

AMER1

0.100

Biomarker

disease

HPO

Entrez Id:	9949
Gene Symbol:	AMMECR1

AMMECR1

0.100

Biomarker

disease

HPO

Entrez Id:	286
Gene Symbol:	ANK1

ANK1

0.100

Biomarker

disease

HPO

Entrez Id:	23141
Gene Symbol:	ANKLE2

ANKLE2

0.100

Biomarker

disease

HPO

Entrez Id:	29123
Gene Symbol:	ANKRD11

ANKRD11

0.100

Biomarker

disease

HPO

Entrez Id:	84168
Gene Symbol:	ANTXR1

ANTXR1

0.100

Biomarker

disease

HPO

Entrez Id:	324
Gene Symbol:	APC

APC

0.100

Biomarker

disease

HPO