MTM1, myotubularin 1, 4534

N. diseases: 125; N. variants: 140
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C4021637
Disease: Abnormality of the nares
Abnormality of the nares 		disease Anatomical Abnormality 8 2 0.100 None 0 1
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 34 4 0.100 None 0 1
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.800 definitive 1.000 70 140 1995 2019
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 63 10 0.020 None 1.000 2 2007 2012
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.300 None 1.000 1 2007 2007
CUI: C1456418
Disease: Absence of muscle
Absence of muscle 		disease Congenital Abnormality 12 2 0.010 None 1.000 1 2017 2017
CUI: C2875316
Disease: Myotubular (centronuclear) myopathy
Myotubular (centronuclear) myopathy 		disease Congenital Abnormality 10 0.010 None 1.000 1 2006 2006
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 16 6 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0 1
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.100 None 0
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 13 20 0.100 None 0 1
CUI: C0452147
Disease: Hypospadias, penoscrotal
Hypospadias, penoscrotal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 3 0.100 None 0
CUI: C0452168
Disease: Hypospadias, balanic
Hypospadias, balanic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 5 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 127 83 0.100 None 0
CUI: C1848182
Disease: Blind vagina
Blind vagina 		disease Congenital Abnormality 3 0.100 None 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 51 29 0.100 None 0 1
CUI: C4021770
Disease: Clinodactyly of toe
Clinodactyly of toe 		disease Congenital Abnormality 8 2 0.100 None 0 1
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.700 None 0.957 47 2 1991 2019
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.400 None 0.972 36 1 1991 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.200 None 1.000 17 1 1999 2019