RNMT, RNA guanine-7 methyltransferase, 8731

N. diseases: 46; N. variants: 1
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: C0270913
Disease: Charcot-Marie-Tooth disease, Type 1C
Charcot-Marie-Tooth disease, Type 1C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 9 0.010 None 1.000 1 2013 2013
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 82 0.040 None 1.000 4 1994 2001
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 10 0.030 None 1.000 3 1998 2006
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 13 0.010 None 1.000 1 1999 1999
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
Hereditary Motor and Sensory Neuropathy Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 84 0.050 None 1.000 5 1991 2000
CUI: C0270933
Disease: Inflammatory neuropathy
Inflammatory neuropathy 		disease Nervous System Diseases Disease or Syndrome 19 1 0.020 None 1.000 2 2006 2013
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 11 0.100 None 1.000 13 1996 2017
CUI: C0751964
Disease: Multiple Sclerosis, Primary Progressive
Multiple Sclerosis, Primary Progressive 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 37 2 0.010 None < 0.001 1 2012 2012
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 24 0.010 None 1.000 1 2001 2001
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.040 None 0.500 4 1992 2006
CUI: C1536148
Disease: Chocolate cyst of ovary
Chocolate cyst of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 50 4 0.010 None 1.000 1 2018 2018
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.070 None 1.000 7 1992 2017
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease Nervous System Diseases Disease or Syndrome 64 20 0.010 None 1.000 1 2010 2010
CUI: C0393819
Disease: Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 82 4 0.020 None 1.000 2 2004 2010
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.090 None 1.000 9 1 1994 2019
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.030 None 1.000 3 1999 2001
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		disease Nervous System Diseases Disease or Syndrome 104 4 0.080 None 1.000 8 2002 2017
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 126 72 0.010 None 1.000 1 2014 2014
CUI: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies 		group Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 144 12 0.010 None 1.000 1 2010 2010
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.080 None 1.000 8 1994 2010
CUI: C0024198
Disease: Lyme Disease
Lyme Disease 		disease Infections Disease or Syndrome 178 4 0.010 None 1.000 1 2010 2010
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma 		disease Neoplasms Neoplastic Process 202 12 0.010 None 1.000 1 2014 2014
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.100 None 1.000 62 1988 2018
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 279 4 0.010 None 1.000 1 2018 2018
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.020 None 1.000 2 1992 1993