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: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C4023126
Disease: Abnormal activity of mitochondrial respiratory chain
Abnormal activity of mitochondrial respiratory chain 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		disease 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		disease 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0231807
Disease: Dyspnea on exertion
Dyspnea on exertion 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		phenotype 0.100 None 0 0
Entrez Id: 57570
Gene Symbol: TRMT5
TRMT5 		tRNA methyltransferase 5 0.769 0.231 5.0E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0