DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Cerebellar vermis hypoplasia ×

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:	545
Gene Symbol:	ATR

ATR

ATR serine/threonine kinase

0.456

0.923

3.5E-09

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	65062
Gene Symbol:	TMEM237

TMEM237

transmembrane protein 237

0.612

0.538

1.9E-12

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	65250
Gene Symbol:	CPLANE1

CPLANE1

ciliogenesis and planar polarity effector 1

0.575

0.692

5.9E-36

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	6872
Gene Symbol:	TAF1

TAF1

TATA-box binding protein associated factor 1

0.581

0.808

1.00

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	7703
Gene Symbol:	PCGF2

PCGF2

polycomb group ring finger 2

0.579

0.615

0.86

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	7846
Gene Symbol:	TUBA1A

TUBA1A

tubulin alpha 1a

0.597

0.769

0.97

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	79023
Gene Symbol:	NUP37

NUP37

nucleoporin 37

0.736

0.423

1.1E-05

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	79042
Gene Symbol:	TSEN34

TSEN34

tRNA splicing endonuclease subunit 34

0.722

0.346

0.36

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	79147
Gene Symbol:	FKRP

FKRP

fukutin related protein

0.513

0.731

9.8E-06

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	6121
Gene Symbol:	RPE65

RPE65

retinoid isomerohydrolase RPE65

0.417

0.808

6.5E-14

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	60529
Gene Symbol:	ALX4

ALX4

ALX homeobox 4

0.560

0.692

0.36

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	60386
Gene Symbol:	SLC25A19

SLC25A19

solute carrier family 25 member 19

0.653

0.577

0.65

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	54806
Gene Symbol:	AHI1

AHI1

Abelson helper integration site 1

0.513

0.846

1.1E-25

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	54892
Gene Symbol:	NCAPG2

NCAPG2

non-SMC condensin II complex subunit G2

0.603

0.731

0.98

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

MKS transition zone complex subunit 1

0.505

0.769

3.4E-16

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	55280
Gene Symbol:	CWF19L1

CWF19L1

CWF19 like cell cycle control factor 1

0.691

0.346

1.4E-15

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	55691
Gene Symbol:	FRMD4A

FRMD4A

FERM domain containing 4A

0.650

0.538

1.00

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	56623
Gene Symbol:	INPP5E

INPP5E

inositol polyphosphate-5-phosphatase E

0.561

0.615

3.1E-03

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

coiled-coil and C2 domain containing 2A

0.532

0.692

1.7E-27

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	57724
Gene Symbol:	EPG5

EPG5

ectopic P-granules autophagy protein 5 homolog

0.623

0.769

1.4E-13

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	79583
Gene Symbol:	TMEM231

TMEM231

transmembrane protein 231

0.554

0.692

3.1E-07

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	79600
Gene Symbol:	TCTN1

TCTN1

tectonic family member 1

0.597

0.615

1.1E-15

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

transmembrane protein 67

0.512

0.769

2.1E-24

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

1.000

2009

Entrez Id:	9215
Gene Symbol:	LARGE1

LARGE1

LARGE xylosyl- and glucuronyltransferase 1

0.526

0.654

0.99

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None

Entrez Id:	9230
Gene Symbol:	RAB11B

RAB11B

RAB11B, member RAS oncogene family

0.691

0.538

0.44

CUI:	C1840379
Disease:	Cerebellar vermis hypoplasia

Cerebellar vermis hypoplasia

phenotype

0.100

None