PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
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: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 80 0.800 None 1.000 94 80 1995 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.120 None 1.000 14 2 1997 2019
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 1.000 13 2011 2020
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 12 3 1997 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 12 3 1997 2017
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 8 0.060 None 1.000 6 1997 2017
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group Nervous System Diseases Disease or Syndrome 66 4 0.050 None 1.000 5 2015 2019
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality 12 0.040 None 1.000 4 2002 2007
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.040 None 1.000 4 2014 2017
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.030 None 1.000 3 2017 2020
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.130 None 1.000 3 2007 2018
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 30 0.030 None 1.000 3 2001 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.420 None 1.000 3 2011 2019
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.020 None 1.000 2 2019 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.120 None 1.000 2 2019 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2013 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2013 2018
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 52 6 0.020 None 1.000 2 2017 2017
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.120 None 1.000 2 2 2015 2018
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.020 None 1.000 2 2018 2019
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 10 0.020 None 1.000 2 2 2015 2016
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 7 0.010 None 1.000 1 2000 2000
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2011 2011
CUI: C0028968
Disease: Olivopontocerebellar Atrophies
Olivopontocerebellar Atrophies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 0.010 None 1.000 1 1999 1999
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 1998 1998