DisGeNET - a database of gene-disease associations

Desmosterolosis, C1865596

Source: ALL

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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

UniProt

Gene Full Name

Protein Class

N. diseases_g

DSI _g

DPI _g

pLI

Score _gda

EL _gda

EI _gda

N. PMIDs

N. SNPs _gda

First Ref.

Last Ref.

Entrez Id:	1718
Gene Symbol:	DHCR24

DHCR24

Q15392

24-dehydrocholesterol reductase

Enzyme

216

0.498

0.769

3.1E-02

0.790

None

1.000

11

7

2000

2019

Entrez Id:	1717
Gene Symbol:	DHCR7

DHCR7

Q9UBM7

7-dehydrocholesterol reductase

Enzyme

266

0.500

0.846

3.9E-13

0.040

None

1.000

4

0

1999

2019