loading...| Preferred Name |
TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1 |
|
| Synonyms |
MACULOPATHY, AGE-RELATED |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/590050 |
|
| altLabel |
MACULOPATHY, AGE-RELATED SUDDEN INFANT DEATH SYNDROME 3-@METHYLGLUTACONIC ACIDURIA MELAS SYNDROME MITOCHONDRIAL COMPLEX IV DEFICIENCY CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY CYCLIC VOMITING SYNDROME DIABETES AND DEAFNESS, MATERNALLY INHERITED MYELODYSPLASTIC SYNDROME, SOMATIC MERRF/MELAS OVERLAP SYNDROME MUSCLE STIFFNESS, PAINFUL tRNA-LEU, MITOCHONDRIAL, 1 KEARNS-SAYRE SYNDROME DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, PROXIMAL MYOPATHY, AND SUDDEN DEATH MERRF SYNDROME ENCEPHALOMYOPATHY, MITOCHONDRIAL NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT SKELETAL MYOPATHY, RESPONSIVE TO RIBOFLAVIN MTTL1 |
|
| cui |
C0242383 C0342289 C0022541 C4016617 C4016616 C0162671 C0038644 C0162672 C4016618 C1838818 C4017627 C0152164 C3151970 C3696376 C0268237 C4016619 C0162666 C1417474 C4016615 |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/590050.0010 http://purl.bioontology.org/ontology/OMIM/590050.0011 http://purl.bioontology.org/ontology/OMIM/590050.0012 http://purl.bioontology.org/ontology/OMIM/590050.0008 http://purl.bioontology.org/ontology/OMIM/590050.0003 http://purl.bioontology.org/ontology/OMIM/590050.0007 http://purl.bioontology.org/ontology/OMIM/590050.0001 http://purl.bioontology.org/ontology/OMIM/590050.0009 http://purl.bioontology.org/ontology/OMIM/590050.0005 http://purl.bioontology.org/ontology/OMIM/590050.0002 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
590050 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1 |
|
| tui |
T047 T033 T028 |