DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Short nose ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	23347
Gene Symbol:	SMCHD1

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1

0.631

0.615

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

1.000

2017

Entrez Id:	8621
Gene Symbol:	CDK13

CDK13

cyclin dependent kinase 13

0.606

0.692

0.91

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

1.000

2017

Entrez Id:	8506
Gene Symbol:	CNTNAP1

CNTNAP1

contactin associated protein 1

0.554

0.577

3.4E-05

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

1.000

2017

Entrez Id:	64093
Gene Symbol:	SMOC1

SMOC1

SPARC related modular calcium binding 1

0.565

0.846

9.5E-03

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6135
Gene Symbol:	RPL11

RPL11

ribosomal protein L11

0.650

0.577

0.96

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6125
Gene Symbol:	RPL5

RPL5

ribosomal protein L5

0.617

0.615

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	60
Gene Symbol:	ACTB

ACTB

actin beta

0.325

0.923

0.99

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	5982
Gene Symbol:	RFC2

RFC2

replication factor C subunit 2

0.520

0.769

2.2E-06

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	5885
Gene Symbol:	RAD21

RAD21

RAD21 cohesin complex component

0.528

0.846

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	5781
Gene Symbol:	PTPN11

PTPN11

protein tyrosine phosphatase non-receptor type 11

0.385

0.923

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	57688
Gene Symbol:	ZSWIM6

ZSWIM6

zinc finger SWIM-type containing 6

0.626

0.577

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	5745
Gene Symbol:	PTH1R

PTH1R

parathyroid hormone 1 receptor

0.544

0.731

0.57

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

phosphatase and tensin homolog

0.305

0.923

0.26

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	5727
Gene Symbol:	PTCH1

PTCH1

patched 1

0.398

0.885

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	57222
Gene Symbol:	ERGIC1

ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1

0.700

0.423

0.65

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	56975
Gene Symbol:	FAM20C

FAM20C

FAM20C golgi associated secretory pathway kinase

0.578

0.731

0.31

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	5605
Gene Symbol:	MAP2K2

MAP2K2

mitogen-activated protein kinase kinase 2

0.534

0.731

0.97

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6138
Gene Symbol:	RPL15

RPL15

ribosomal protein L15

0.686

0.615

0.97

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6141
Gene Symbol:	RPL18

RPL18

ribosomal protein L18

0.743

0.385

0.97

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6309
Gene Symbol:	SC5D

SC5D

sterol-C5-desaturase

0.641

0.577

2.6E-03

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6235
Gene Symbol:	RPS29

RPS29

ribosomal protein S29

0.729

0.423

0.29

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6234
Gene Symbol:	RPS28

RPS28

ribosomal protein S28

0.716

0.423

0.68

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6232
Gene Symbol:	RPS27

RPS27

ribosomal protein S27

0.578

0.769

0.76

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6231
Gene Symbol:	RPS26

RPS26

ribosomal protein S26

0.716

0.538

0.85

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6229
Gene Symbol:	RPS24

RPS24

ribosomal protein S24

0.695

0.423

0.68

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None