MCID: KLN007
MIFTS: 5

Koolen-De Vries Syndrome Due to a Point Mutation

Categories: Fetal diseases, Genetic diseases, Rare 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 60

Characteristics:

Orphanet epidemiological data:

60
koolen-de vries syndrome due to a point mutation
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 ORPHA363965

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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