Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) - Wikidata - awgldk - TriplyDB

Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

http://www.wikidata.org/entity/Q45314496

about

Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+; K+

P361

SLC transporter disorders

P527

Q50289008-7EA49138-6356-41A8-AD22-72D9A07A25ED

P361

Q45314471-F343DA6B-D44F-467B-8B74-10BB698CC58A

P527

Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

http://www.wikidata.org/entity/Q45314496

description

An instance of the biological ...... ss 1D (CSNB1D) in Homo sapiens

@en

name

Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

@en

type

label

Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

@en

prefLabel

Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)

@en

P2860

Q45314496-8FC434F0-45D5-4539-BD04-74DB9233A415

Q45314496-DCFDFFFD-CEC6-4BE6-9104-0A7500D19817

P2888

Q45314496-3EBDEFAA-8577-4887-B17A-A6E9A8C263EB

P31

Q45314496-9F2DDFAC-3CDD-4111-9F91-9B63548999F0

P361

Q45314496-F17BFBEC-4A59-439E-98EE-98AF0136CC6A

P3937

Q45314496-0A4D7A1D-736E-4F45-B6EF-CF4F15BB62D4

P527

Q45314496-01455D36-CBD1-49ED-89B0-AA362C43A232

P703

Q45314496-FF438C92-7041-412D-8DE9-C334666A2042

P2860

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

The SLC24 gene family of Na⁺/Ca²⁺-K⁺ exchangers: from sight and smell to memory consolidation and skin pigmentation.

P2888

reactome:R-HSA-5619077

P31

biological pathway

P361

SLC transporter disorders

P3937

R-HSA-5619077

http://www.w3.org/2001/XMLSchema#string

P527

Defective SLC24A1 does not exchange extracellular 4Na+ for cytosolic Ca2+; K+

P703