Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease 0.610 None 1.000 8 4 1995 2010
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		phenotype 0.500 None 1.000 1 0 2013 2013
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease 0.400 None 1.000 1 0 2013 2013
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		disease 0.300 None 1.000 2 0 1998 2000
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		disease 0.300 None 1.000 1 0 1995 1995
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1838854
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, AMINOGLYCOSIDE-INDUCED 		disease 0.300 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.300 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.120 None 1.000 2 0 2008 2015
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		disease 0.100 None 1.000 7 5 1999 2010
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata 		disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia 		disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		phenotype 0.100 None 0 0