DisGeNET - a database of gene-disease associations

Molar tooth sign on MRI, C1865060

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	9786
Gene Symbol:	KIAA0586

KIAA0586

0.100

CausalMutation

phenotype

CLINVAR

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

2016

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

0.100

Biomarker

phenotype

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

0.100

Biomarker

phenotype

HPO

Entrez Id:	23322
Gene Symbol:	RPGRIP1L

RPGRIP1L

0.100

Biomarker

phenotype

HPO

Entrez Id:	84314
Gene Symbol:	TMEM107

TMEM107

0.100

Biomarker

phenotype

HPO

Entrez Id:	90381
Gene Symbol:	TICRR

TICRR

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	153241
Gene Symbol:	CEP120

CEP120

0.100

Biomarker

phenotype

HPO

Entrez Id:	26005
Gene Symbol:	C2CD3

C2CD3

0.100

Biomarker

phenotype

HPO

Entrez Id:	4867
Gene Symbol:	NPHP1

NPHP1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

0.100

Biomarker

phenotype

HPO

Entrez Id:	79583
Gene Symbol:	TMEM231

TMEM231

0.100

Biomarker

phenotype

HPO

Entrez Id:	27077
Gene Symbol:	B9D1

B9D1

0.100

Biomarker

phenotype

HPO

Entrez Id:	8481
Gene Symbol:	OFD1

OFD1

0.100

Biomarker

phenotype

HPO

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

0.100

Biomarker

phenotype

HPO

Entrez Id:	51684
Gene Symbol:	SUFU

SUFU

0.100

Biomarker

phenotype

HPO

Entrez Id:	374654
Gene Symbol:	KIF7

KIF7

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	5147
Gene Symbol:	PDE6D

PDE6D

0.100

GeneticVariation

phenotype

CLINVAR

Entrez Id:	5147
Gene Symbol:	PDE6D

PDE6D

0.100

Biomarker

phenotype

HPO

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

0.100

CausalMutation

phenotype

CLINVAR

Entrez Id:	80210
Gene Symbol:	ARMC9

ARMC9

0.100

Biomarker

phenotype

HPO

Entrez Id:	51524
Gene Symbol:	TMEM138

TMEM138

0.100

Biomarker

phenotype

HPO

Entrez Id:	79600
Gene Symbol:	TCTN1

TCTN1

0.100

Biomarker

phenotype

HPO

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

0.100

Biomarker

phenotype

HPO

Entrez Id:	10464
Gene Symbol:	PIBF1

PIBF1

0.100

Biomarker

phenotype

HPO

Entrez Id:	9851
Gene Symbol:	KIAA0753

KIAA0753

0.100

Biomarker

phenotype

HPO