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: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		disease 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease 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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C1848182
Disease: Blind vagina
Blind vagina 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease 0.100 None 0 1
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: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		disease 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
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: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		disease 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1 		myotubularin 1 0.573 0.731 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 0
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: 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: 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: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.110 None 1.000 0 0 2010 2010