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Aliases for MCDR1 Gene

Aliases for MCDR1 Gene

  • Macular Dystrophy, Retinal, 1 (North Carolina Type) 2 3
  • CAPED 3
  • NCMD 3

External Ids for MCDR1 Gene

Summaries for MCDR1 Gene

GeneCards Summary for MCDR1 Gene

MCDR1 (Macular Dystrophy, Retinal, 1 (North Carolina Type)) is a Genetic Locus. Diseases associated with MCDR1 include Macular Dystrophy, Retinal, 1, North Carolina Type.

Additional gene information for MCDR1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCDR1 Gene

Genomics for MCDR1 Gene

Genomic Locations for MCDR1 Gene

Genomic Locations for MCDR1 Gene
Unknown strand

Genomic View for MCDR1 Gene

Cytogenetic band:
GeneLoc Logo Gene Density

No data available for GeneHancer (GH) Regulatory Elements and RefSeq DNA sequence for MCDR1 Gene

Proteins for MCDR1 Gene

Post-translational modifications for MCDR1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MCDR1 Gene

Domains & Families for MCDR1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MCDR1 Gene

Function for MCDR1 Gene

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MCDR1 Gene

Localization for MCDR1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MCDR1 Gene

Pathways & Interactions for MCDR1 Gene

SuperPathways for MCDR1 Gene

No Data Available

Interacting Proteins for MCDR1 Gene

Gene Ontology (GO) - Biological Process for MCDR1 Gene


No data available for Pathways by source and SIGNOR curated interactions for MCDR1 Gene

Drugs & Compounds for MCDR1 Gene

No Compound Related Data Available

Transcripts for MCDR1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCDR1 Gene

No ASD Table

Relevant External Links for MCDR1 Gene

ECgene alternative splicing isoforms for

No data available for mRNA/cDNA for MCDR1 Gene

Expression for MCDR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MCDR1 Gene:

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCDR1 Gene

Orthologs for MCDR1 Gene

No data available for Orthologs and Evolution for MCDR1 Gene

Paralogs for MCDR1 Gene

No data available for Paralogs for MCDR1 Gene

Variants for MCDR1 Gene

Additional Variant Information for MCDR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MCDR1 Gene

Disorders for MCDR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MCDR1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
macular dystrophy, retinal, 1, north carolina type
  • mcdr1
- elite association - COSMIC cancer census association via MalaCards
Search MCDR1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with MCDR1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for MCDR1 Gene

Publications for MCDR1 Gene

  1. North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease. (PMID: 1562260) Small KW … Folk JC (Archives of ophthalmology (Chicago, Ill. : 1960) 1992) 2 3 58
  2. Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy. (PMID: 27551809) Ellingford JM … Black GC (Clinical & experimental ophthalmology 2017) 3 58
  3. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. (PMID: 26507665) Small KW … Stone EM (Ophthalmology 2016) 3 58
  4. An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1). (PMID: 9429134) Sauer CG … Weber BH (Journal of medical genetics 1997) 22 58

Products for MCDR1 Gene

Sources for MCDR1 Gene

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