RMRP (RNA component of mitochondrial RNA processing endoribonuclease)

Gene
Gene Other IDs Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6023
Gene name Gene Name - the full gene name approved by the HGNC.
RNA component of mitochondrial RNA processing endoribonuclease
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RMRP
Synonyms (NCBI Gene) Gene synonyms aliases
CHH, NME1, RMRPR, RRP2
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit t
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Pathways Associated diseases
MIM HGNC e!Ensembl
157660 10031 ENSG00000277027
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Other IDs Pathways Associated diseases
  KEGG  
  Ribosome biogenesis in eukaryotes  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Other IDs Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anauxetic Dysplasia anauxetic dysplasia, anauxetic dysplasia 1 rs549085067, rs1554651396, rs1554651387, rs1554651499, rs1554651526, rs1554651513, rs1554651481, rs1554651508, rs749667892, rs1554651425, rs1587919406, rs786204684, rs1554651461, rs1554651385, rs1563907881
View all (59 more)		 N/A
Metaphyseal Chondrodysplasia Metaphyseal chondrodysplasia, McKusick type rs1554651411, rs1554651513, rs1554651481, rs1383432106, rs1554651400, rs1554651425, rs1218494857, rs786204684, rs1554651461, rs549085067, rs1563907881, rs1587919129, rs1554651403, rs1554651512, rs1554651405
View all (66 more)		 N/A
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS metaphyseal dysplasia without hypotrichosis rs749667892, rs1554651400, rs1554651469, rs948931144, rs936059863 N/A
Show/Hide Text Mining Associations (41)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Stimulate 27906963
Agranulocytosis Associate 31413121
Anauxetic dysplasia Associate 16252239, 17701897, 21455487, 30102486
Anemia Diamond Blackfan Associate 17701897
Breast Neoplasms Stimulate 26415221
Carcinoma Hepatocellular Associate 33846370
Carcinoma Non Small Cell Lung Associate 34628486
Cardiomyopathies Associate 37238718
Cartilage hair hypoplasia Associate 11207361, 14569119, 16252239, 17701897, 20375313, 21146796, 24009312, 24217815, 28067412, 30410491, 31551465, 34956076, 37820747
Colorectal Neoplasms Stimulate 34266953