Source: HPO

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: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
Chronic progressive external ophthalmoplegia
disease 0.400 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.400 None 1.000 0 0 2006 2006
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group 0.130 None 1.000 0 0 2006 2008
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype 0.110 None 1.000 0 0 2009 2009
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype 0.110 None 1.000 0 0 2009 2009
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C0026848
Disease: Myopathy
Myopathy
group 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
Restrictive deficit on pulmonary function testing
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
Attention deficit hyperactivity disorder
disease 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
Progressive proximal muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
Segmental peripheral demyelination/remyelination
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
Progressive intervertebral space narrowing
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
tRNA 0.534 0.731
Malformations of Cortical Development, Group II
disease 0.100 None 0 0