DNMT1, DNA methyltransferase 1, 1786

N. diseases: 496; N. variants: 36
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: C3279885
Disease: Hereditary Sensory and Autonomic Neuropathy Type Ie
Hereditary Sensory and Autonomic Neuropathy Type Ie 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 3 0.720 None 1.000 7 3 1998 2018
CUI: C1858804
Disease: Cerebellar Ataxia, Deafness, and Narcolepsy
Cerebellar Ataxia, Deafness, and Narcolepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.320 None 1.000 2 2013 2013
CUI: C1708341
Disease: Heavier Menses
Heavier Menses 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2012 2012
CUI: C1835854
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 68
DEAFNESS, AUTOSOMAL RECESSIVE 68 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 2 0.100 None 1.000 1 2 2016 2016
CUI: C3807295
Disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 3 3 0.770 definitive 1.000 12 3 1998 2016
CUI: C1696082
Disease: Peritoneal Necrotic Lesion
Peritoneal Necrotic Lesion 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		phenotype Nervous System Diseases Finding 3 0.100 None 0
CUI: C4024941
Disease: Dilated third ventricle
Dilated third ventricle 		phenotype Finding 4 0.100 None 0
CUI: C0086405
Disease: Hereditary Sensory Radicular Neuropathy
Hereditary Sensory Radicular Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2011 2011
CUI: C1274795
Disease: Urban Schosser Spohn syndrome
Urban Schosser Spohn syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2019 2019
CUI: C3275447
Disease: Ogden syndrome
Ogden syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 6 12 0.010 None 1.000 1 2017 2017
CUI: C1835228
Disease: Predominantly lower limb lymphedema
Predominantly lower limb lymphedema 		phenotype Hemic and Lymphatic Diseases Finding 6 0.100 None 0
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 5 0.300 None 1.000 1 2011 2011
CUI: C1838579
Disease: Pseudobulbar signs
Pseudobulbar signs 		phenotype Sign or Symptom 7 0.100 None 0
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 9 0.300 None 1.000 1 2011 2011
CUI: C0338630
Disease: Senile Paranoid Dementia
Senile Paranoid Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 8 0.300 None 1.000 1 2011 2011
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 32 0.300 None 1.000 1 2011 2011
CUI: C3536741
Disease: Discordant ventriculoarterial connection
Discordant ventriculoarterial connection 		disease Congenital Abnormality 10 1 0.010 None 1.000 1 1 2017 2017
CUI: C0242490
Disease: Enthesopathy
Enthesopathy 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 11 1 0.010 None 1.000 1 2019 2019
CUI: C0264757
Disease: Rheumatic disease of heart valve
Rheumatic disease of heart valve 		disease Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C1740787
Disease: Cardiac autonomic neuropathy
Cardiac autonomic neuropathy 		disease Nervous System Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2019 2019
CUI: C0023472
Disease: Leukemia, Myeloid, Accelerated Phase
Leukemia, Myeloid, Accelerated Phase 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 12 0.010 None 1.000 1 2018 2018
CUI: C0152256
Disease: Disuse osteoporosis
Disuse osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C0345960
Disease: Giant cell carcinoma of lung
Giant cell carcinoma of lung 		disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2017 2017
CUI: C0422895
Disease: Primitive reflex
Primitive reflex 		phenotype Finding 14 0.100 None 0