Phenotype

Niemann-Pick disease

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Saudi human-genetics coreAll Saudi-affiliated records

Overview

Term
Niemann-Pick disease
HPO
-
OMIM
-
In SaudiVarKB
21 articles, 21 mentions

Synonyms

None recorded

External resources

ClinVar ↗PubMed ↗
21Publications9Co-reported genes18Variants in these articles
0Saudi regions
OpenLiterature network

Co-reported genes

Genes named in the same articles as Niemann-Pick disease. Co-mention, not a proven association.

GeneArticlesEvidence
NPC16View sentences
SMPD13View sentences
AR1View sentences
COG61View sentences
NPC21View sentences
PCSK91View sentences
PGD1View sentences
SOAT11View sentences
UCP11View sentences

Variants in these articles

Variants reported in articles that mention Niemann-Pick disease; the gene is shown only when the link was confirmed by dbSNP or LitVar2.

VariantGeneArticles
H421Y-2
A196P-1
F480L-1
K576N-1
L137P-1
L549P-1
R441X-1
R474W-1
S379P-1
W32X-1
W533R-1
rs10011540UCP11
rs1800592-1
rs1805081NPC11
rs1805082NPC11
rs2270565UCP11
rs3811791UCP11
rs45539933UCP11

Saudi regions

No Saudi region named.