DisGeNET - a database of gene-disease associations

Overlapping fingers, C1446712

The Variant filter does not apply in GDA tabs

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:	5889
Gene Symbol:	RAD51C

RAD51C

0.010

GeneticVariation

disease

BEFREE

With only one previously described homozygous RAD51C variant to date, our findings expand the phenotypic spectrum of FANCO and suggest it should be part of the antenatal differential diagnosis for trisomy 13 and 18, due to the presence of atypical findings such as cleft lip and palate, holoprosencephaly, growth restriction and overlapping fingers.

29278735

2018

Entrez Id:	91754
Gene Symbol:	NEK9

NEK9

0.100

Biomarker

disease

HPO

Entrez Id:	54809
Gene Symbol:	SAMD9

SAMD9

0.100

Biomarker

disease

HPO

Entrez Id:	23299
Gene Symbol:	BICD2

BICD2

0.100

Biomarker

disease

HPO

Entrez Id:	84162
Gene Symbol:	KIAA1109

KIAA1109

0.100

Biomarker

disease

HPO

Entrez Id:	2122
Gene Symbol:	MECOM

MECOM

0.100

Biomarker

disease

HPO

Entrez Id:	4604
Gene Symbol:	MYBPC1

MYBPC1

0.100

Biomarker

disease

HPO

Entrez Id:	7140
Gene Symbol:	TNNT3

TNNT3

0.100

Biomarker

disease

HPO

Entrez Id:	7841
Gene Symbol:	MOGS

MOGS

0.100

Biomarker

disease

HPO

Entrez Id:	4621
Gene Symbol:	MYH3

MYH3

0.100

Biomarker

disease

HPO

Entrez Id:	1272
Gene Symbol:	CNTN1

CNTN1

0.100

Biomarker

disease

HPO

Entrez Id:	54551
Gene Symbol:	MAGEL2

MAGEL2

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	1822
Gene Symbol:	ATN1

ATN1

0.100

Biomarker

disease

HPO

Entrez Id:	132884
Gene Symbol:	EVC2

EVC2

0.100

Biomarker

disease

HPO

Entrez Id:	91949
Gene Symbol:	COG7

COG7

0.100

Biomarker

disease

HPO

Entrez Id:	7169
Gene Symbol:	TPM2

TPM2

0.100

Biomarker

disease

HPO

Entrez Id:	50515
Gene Symbol:	CHST11

CHST11

0.100

Biomarker

disease

HPO

Entrez Id:	26040
Gene Symbol:	SETBP1

SETBP1

0.100

Biomarker

disease

HPO

Entrez Id:	51132
Gene Symbol:	RLIM

RLIM

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	2121
Gene Symbol:	EVC

EVC

0.100

Biomarker

disease

HPO

Entrez Id:	9772
Gene Symbol:	TMEM94

TMEM94

0.100

Biomarker

disease

HPO

Entrez Id:	5297
Gene Symbol:	PI4KA

PI4KA

0.100

Biomarker

disease

HPO

Entrez Id:	348180
Gene Symbol:	CTU2

CTU2

0.100

Biomarker

disease

HPO

Entrez Id:	2316
Gene Symbol:	FLNA

FLNA

0.100

Biomarker

disease

HPO

Entrez Id:	7136
Gene Symbol:	TNNI2

TNNI2

0.100

Biomarker

disease

HPO