DisGeNET - a database of gene-disease associations

Source: HPO

Gene: DHCR7 ×

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:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0920299
Disease:	Overriding toe

Overriding toe

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0423109
Disease:	Upward slant of palpebral fissure

Upward slant of palpebral fissure

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0423110
Disease:	Downward slant of palpebral fissure

Downward slant of palpebral fissure

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0431478
Disease:	Posteriorly rotated ear

Posteriorly rotated ear

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0431659
Disease:	Hypoplasia of scrotum

Hypoplasia of scrotum

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0431890
Disease:	Hypoplasia of thumb

Hypoplasia of thumb

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0431904
Disease:	Ulnar polydactyly of fingers

Ulnar polydactyly of fingers

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0432333
Disease:	Abnormal dermatoglyphic pattern

Abnormal dermatoglyphic pattern

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0521525
Disease:	Short neck

Short neck

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0521619
Disease:	Obstruction of pelviureteric junction

Obstruction of pelviureteric junction

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0549306
Disease:	Mesomelia

Mesomelia

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0678230
Disease:	Congenital Epicanthus

Congenital Epicanthus

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0685695
Disease:	Abnormal lung lobation

Abnormal lung lobation

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0694563
Disease:	Excessive daytime somnolence

Excessive daytime somnolence

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0747085
Disease:	Recurrent otitis media

Recurrent otitis media

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0848558
Disease:	Hypospadias

Hypospadias

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0860204
Disease:	Cholestatic liver disease

Cholestatic liver disease

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0376480
Disease:	Gingival Overgrowth

Gingival Overgrowth

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1842083
Disease:	Abnormality of the ribs

Abnormality of the ribs

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1849172
Disease:	Frontal lobe hypoplasia

Frontal lobe hypoplasia

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C2675111
Disease:	Abnormal eyelash morphology

Abnormal eyelash morphology

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C2749463
Disease:	Aplasia/Hypoplasia of the radius

Aplasia/Hypoplasia of the radius

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C2919142
Disease:	Short Stature, CTCAE

Short Stature, CTCAE

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C3278401
Disease:	Hypopigmentation of hair

Hypopigmentation of hair

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C3278923
Disease:	Dilated ventricles (finding)

Dilated ventricles (finding)

phenotype

0.100

None