MCID: KLN007
MIFTS: 6

Koolen-De Vries Syndrome Due to a Point Mutation

Categories: Fetal diseases, Rare diseases, Genetic diseases, Mental diseases

Aliases & Classifications for Koolen-De Vries Syndrome Due to a Point Mutation

MalaCards integrated aliases for Koolen-De Vries Syndrome Due to a Point Mutation:

Name: Koolen-De Vries Syndrome Due to a Point Mutation 59

Characteristics:

Orphanet epidemiological data:

59
koolen-de vries syndrome due to a point mutation
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA363965
ICD10 via Orphanet 34 Q93.5

Summaries for Koolen-De Vries Syndrome Due to a Point Mutation

MalaCards based summary : Koolen-De Vries Syndrome Due to a Point Mutation An important gene associated with Koolen-De Vries Syndrome Due to a Point Mutation is KANSL1 (KAT8 Regulatory NSL Complex Subunit 1).

Related Diseases for Koolen-De Vries Syndrome Due to a Point Mutation

Diseases in the Koolen-De Vries Syndrome family:

Koolen-De Vries Syndrome Due to a Point Mutation

Symptoms & Phenotypes for Koolen-De Vries Syndrome Due to a Point Mutation

Drugs & Therapeutics for Koolen-De Vries Syndrome Due to a Point Mutation

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Anatomical Context for Koolen-De Vries Syndrome Due to a Point Mutation

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Variations for Koolen-De Vries Syndrome Due to a Point Mutation

Expression for Koolen-De Vries Syndrome Due to a Point Mutation

Search GEO for disease gene expression data for Koolen-De Vries Syndrome Due to a Point Mutation.

Pathways for Koolen-De Vries Syndrome Due to a Point Mutation

GO Terms for Koolen-De Vries Syndrome Due to a Point Mutation

Sources for Koolen-De Vries Syndrome Due to a Point Mutation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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