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: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		disease 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C4020800
Disease: Decreased activity of mitochondrial complex IV
Decreased activity of mitochondrial complex IV 		phenotype 0.100 None 0 0