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loading...| Preferred Name |
T-BOX TRANSCRIPTION FACTOR 1 |
|
| Synonyms |
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME DIGEORGE SYNDROME T-BOX 1 TETRALOGY OF FALLOT TBX1 VELOCARDIOFACIAL SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/602054 |
|
| altLabel |
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME DIGEORGE SYNDROME T-BOX 1 TETRALOGY OF FALLOT TBX1 VELOCARDIOFACIAL SYNDROME |
|
| cui |
C0795907 C1420603 C0039685 C0220704 C0012236 |
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| Gene Locus |
22q11.2 |
|
| Gene Symbol |
DORV VCFS CAFS CTHM TGA DGS DGCR TBX1 |
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| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/602054.0004 http://purl.bioontology.org/ontology/OMIM/602054.0002 http://purl.bioontology.org/ontology/OMIM/602054.0006 http://purl.bioontology.org/ontology/OMIM/602054.0005 |
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| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
602054 |
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| OMIM Entry Type |
1 |
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| OMIM MimType Value |
star |
|
| prefLabel |
T-BOX TRANSCRIPTION FACTOR 1 |
|
| tui |
T047 T019 T028 |
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