DisGeNET - a database of gene-disease associations

Source: HPO

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:	4337
Gene Symbol:	MOCS1

MOCS1

molybdenum cofactor synthesis 1

0.743

0.231

9.1E-07

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	4338
Gene Symbol:	MOCS2

MOCS2

molybdenum cofactor synthesis 2

0.729

0.308

4.6E-04

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	11224
Gene Symbol:	RPL35

RPL35

ribosomal protein L35

0.805

0.346

0.55

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	11342
Gene Symbol:	RNF13

RNF13

ring finger protein 13

0.722

0.346

4.0E-04

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	9719
Gene Symbol:	ADAMTSL2

ADAMTSL2

ADAMTS like 2

0.666

0.346

1.6E-03

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	10907
Gene Symbol:	TXNL4A

TXNL4A

thioredoxin like 4A

0.711

0.385

7.2E-05

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	10978
Gene Symbol:	CLP1

CLP1

cleavage factor polyribonucleotide kinase subunit 1

0.700

0.385

0.20

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	340533
Gene Symbol:	NEXMIF

NEXMIF

neurite extension and migration factor

0.659

0.385

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	54928
Gene Symbol:	IMPAD1

IMPAD1

inositol monophosphatase domain containing 1

0.700

0.385

1.5E-02

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:	6155
Gene Symbol:	RPL27

RPL27

ribosomal protein L27

0.769

0.385

0.85

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	6165
Gene Symbol:	RPL35A

RPL35A

ribosomal protein L35a

0.736

0.385

0.90

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	8985
Gene Symbol:	PLOD3

PLOD3

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

0.659

0.385

6.1E-13

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	89970
Gene Symbol:	RSPRY1

RSPRY1

ring finger and SPRY domain containing 1

0.705

0.385

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	10617
Gene Symbol:	STAMBP

STAMBP

STAM binding protein

0.653

0.423

5.4E-05

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	25973
Gene Symbol:	PARS2

PARS2

prolyl-tRNA synthetase 2, mitochondrial

0.644

0.423

4.1E-03

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	54676
Gene Symbol:	GTPBP2

GTPBP2

GTP binding protein 2

0.736

0.423

0.32

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:	6154
Gene Symbol:	RPL26

RPL26

ribosomal protein L26

0.695

0.423

0.92

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

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:	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:	6942
Gene Symbol:	TCF20

TCF20

transcription factor 20

0.644

0.423

1.00

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	29920
Gene Symbol:	PYCR2

PYCR2

pyrroline-5-carboxylate reductase 2

0.682

0.462

2.1E-06

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	29940
Gene Symbol:	DSE

DSE

dermatan sulfate epimerase

0.700

0.462

0.63

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None