MCID: MCR048
MIFTS: 5

Microcephaly Chorioretinopathy Recessive Form

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly Chorioretinopathy Recessive Form

MalaCards integrated aliases for Microcephaly Chorioretinopathy Recessive Form:

Name: Microcephaly Chorioretinopathy Recessive Form 20 6

Classifications:



Summaries for Microcephaly Chorioretinopathy Recessive Form

MalaCards based summary : Microcephaly Chorioretinopathy Recessive Form An important gene associated with Microcephaly Chorioretinopathy Recessive Form is TUBGCP4 (Tubulin Gamma Complex Associated Protein 4).

Related Diseases for Microcephaly Chorioretinopathy Recessive Form

Symptoms & Phenotypes for Microcephaly Chorioretinopathy Recessive Form

Drugs & Therapeutics for Microcephaly Chorioretinopathy Recessive Form

Search Clinical Trials , NIH Clinical Center for Microcephaly Chorioretinopathy Recessive Form

Genetic Tests for Microcephaly Chorioretinopathy Recessive Form

Anatomical Context for Microcephaly Chorioretinopathy Recessive Form

Publications for Microcephaly Chorioretinopathy Recessive Form

Variations for Microcephaly Chorioretinopathy Recessive Form

ClinVar genetic disease variations for Microcephaly Chorioretinopathy Recessive Form:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBGCP4 NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) SNV Likely pathogenic 190123 rs200092283 15:43695895-43695895 15:43403697-43403697

Expression for Microcephaly Chorioretinopathy Recessive Form

Search GEO for disease gene expression data for Microcephaly Chorioretinopathy Recessive Form.

Pathways for Microcephaly Chorioretinopathy Recessive Form

GO Terms for Microcephaly Chorioretinopathy Recessive Form

Sources for Microcephaly Chorioretinopathy Recessive Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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