Microcephaly Chorioretinopathy Recessive Form disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Microcephaly Chorioretinopathy Recessive Form

MalaCards integrated aliases for Microcephaly Chorioretinopathy Recessive Form:

Name: Microcephaly Chorioretinopathy Recessive Form ²⁰ ⁶

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

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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).

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Related Diseases for Microcephaly Chorioretinopathy Recessive Form

Diseases in the Microcephaly Chorioretinopathy Recessive Form family:

Microcephaly and Chorioretinopathy, Autosomal Recessive, 1	Microcephaly and Chorioretinopathy, Autosomal Recessive, 2
Microcephaly and Chorioretinopathy, Autosomal Recessive, 3	Microcephaly and Chorioretinopathy 1
Microcephaly and Chorioretinopathy 2	Microcephaly and Chorioretinopathy 3
Microcephaly with Chorioretinopathy, Autosomal Dominant Form	Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

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Symptoms & Phenotypes for Microcephaly Chorioretinopathy Recessive Form

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Drugs & Therapeutics for Microcephaly Chorioretinopathy Recessive Form

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

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Genetic Tests for Microcephaly Chorioretinopathy Recessive Form

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Anatomical Context for Microcephaly Chorioretinopathy Recessive Form

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Publications for Microcephaly Chorioretinopathy Recessive Form

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Genes for Microcephaly Chorioretinopathy Recessive Form

Genes related to Microcephaly Chorioretinopathy Recessive Form (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TUBGCP4	Tubulin Gamma Complex Associated Protein 4	Protein Coding	25	Likely pathogenic ⁶

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Variations for Microcephaly Chorioretinopathy Recessive Form

ClinVar genetic disease variations for Microcephaly Chorioretinopathy Recessive Form:

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#	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

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Expression for Microcephaly Chorioretinopathy Recessive Form

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

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Pathways for Microcephaly Chorioretinopathy Recessive Form

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GO Terms for Microcephaly Chorioretinopathy Recessive Form

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Sources for Microcephaly Chorioretinopathy Recessive Form

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia