Source: INFERRED

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: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease 0.800 definitive 1.000 18 138 1995 2019
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease 0.700 None 0.957 0 1 1991 2019
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.200 None 1.000 1 1 1999 2019
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.110 None 1.000 0 0 2010 2010
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.110 None 1.000 0 1 2014 2014
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2010 2010
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0452168
Disease: Hypospadias, balanic
Hypospadias, balanic 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1839271
Disease: Birth length greater than 97th percentile
Birth length greater than 97th percentile 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease 0.100 None 0 1