Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4488
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Msh homeobox 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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MSX2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CRS2, FPP, HOX8, MSH, PFM, PFM1 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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CRS2, PFM1 |
Chromosome
Chromosome number
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5 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q35.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper cranio |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Aplasia cutis congenita |
Aplasia cutis congenita of scalp |
rs587777706 |
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Craniosynostosis |
Craniosynostosis, CRANIOSYNOSTOSIS, TYPE 2 |
rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350 |
23918290, 23949913, 14571277, 8106171 |
Craniosynostosis syndrome |
Craniosynostosis, Boston type |
rs121918487, rs121918491, rs28931615, rs4647924, rs139494583, rs1057519046, rs1597730335, rs1597816045 |
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Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
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Parietal foramina |
PARIETAL FORAMINA, PARIETAL FORAMINA 1 |
rs104894191, rs104894192, rs104894193, rs587776614, rs104894196, rs104894197, rs387906325, rs2113498725, rs104893896, rs121912971, rs121912972, rs1561643060, rs587777700, rs587777702 |
16319823, 10742103, 10767351, 23918290 |
Parietal foramina with cleidocranial dysplasia |
Parietal Foramina With Cleidocranial Dysplasia |
rs1561643029 |
14571277, 23918290 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Trigonocephaly |
Trigonocephaly |
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ClinVar |
Parietal Foramina |
parietal foramina, parietal foramina 1 |
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GenCC |
Hypertension |
Hypertension |
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GWAS |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
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GWAS, CBGDA |
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