Source: CLINVAR

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: 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: 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: C0020224
Disease: Polyhydramnios
Polyhydramnios
phenotype 0.100 None 0 1
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: 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: 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: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia
phenotype 0.100 None 0 1
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: C0431352
Disease: Secondary microcephaly
Secondary microcephaly
disease 0.100 None 0 1
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
myotubularin 1 0.573 0.731 1.00
CUI: C0426440
Disease: Large nostrils
Large nostrils
phenotype 0.100 None 0 1
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: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype 0.100 None 0 1
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