DisGeNET - a database of gene-disease associations

Source: CLINVAR

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:	C0175694
Disease:	Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

disease

1.000

definitive

0.987

1987

2018

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0432072
Disease:	Dysmorphic features

Dysmorphic features

disease

0.110

None

1.000

1994

2016

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

group

0.100

None

1.000

1994

2013

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0026650
Disease:	Movement Disorders

Movement Disorders

group

0.100

None

1.000

1994

2013

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1849185
Disease:	Elevated 7-dehydrocholesterol

Elevated 7-dehydrocholesterol

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1844731
Disease:	Hypoplastic nasal tip

Hypoplastic nasal tip

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1844605
Disease:	Periorbital wrinkles

Periorbital wrinkles

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1844573
Disease:	Large earlobe

Large earlobe

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1840069
Disease:	Sandal gap

Sandal gap

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1849537
Disease:	Persistent open anterior fontanelle

Persistent open anterior fontanelle

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1854114
Disease:	Short nose

Short nose

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1857278
Disease:	Partial or complete agenesis of corpus callosum

Partial or complete agenesis of corpus callosum

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1956257
Disease:	Pulmonary Stenosis

Pulmonary Stenosis

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C2677180
Disease:	Congenital microcephaly

Congenital microcephaly

disease

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

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C4021085
Disease:	Abnormality of brain morphology

Abnormality of brain morphology

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C4025158
Disease:	Rudimentary postaxial polydactyly of hands

Rudimentary postaxial polydactyly of hands

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1839546
Disease:	Microretrognathia

Microretrognathia

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1836940
Disease:	Thickened nuchal skin fold

Thickened nuchal skin fold

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C1836047
Disease:	Long face

Long face

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0009081
Disease:	Congenital clubfoot

Congenital clubfoot

disease

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0079924
Disease:	Oligohydramnios

Oligohydramnios

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0235991
Disease:	Small for gestational age (disorder)

Small for gestational age (disorder)

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0239676
Disease:	High forehead

High forehead

phenotype

0.100

None

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

7-dehydrocholesterol reductase

0.500

0.846

3.9E-13

CUI:	C0266313
Disease:	Allanson Pantzar McLeod syndrome

Allanson Pantzar McLeod syndrome

disease

0.100

None