AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 25; N. variants: 2
Source: BEFREE ×
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: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		disease Disease or Syndrome 2 0.730 None 1.000 3 2013 2020
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		disease Nervous System Diseases Congenital Abnormality 28 7 0.320 strong 1.000 2 2013 2018
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 87 12 0.120 None 1.000 2 2018 2019
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		disease Disease or Syndrome 27 7 0.020 None 1.000 2 2013 2018
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 555 80 0.010 None 1.000 1 2017 2017
CUI: C0279546
Disease: Adult Undifferentiated Pleomorphic Sarcoma
Adult Undifferentiated Pleomorphic Sarcoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2019 2019
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		disease Neoplasms Neoplastic Process 145 2 0.010 None 1.000 1 2019 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1480 85 0.010 None 1.000 1 2013 2013
CUI: C3899638
Disease: Childhood Undifferentiated Pleomorphic Sarcoma
Childhood Undifferentiated Pleomorphic Sarcoma 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2019 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None 1.000 1 2020 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5541 769 0.010 None 1.000 1 2008 2008
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1053 67 0.010 None 1.000 1 2012 2012
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1340 139 0.010 None 1.000 1 2008 2008
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 830 162 0.010 None 1.000 1 2016 2016
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 757 35 0.010 None 1.000 1 2012 2012
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 21 13 0.010 None 1.000 1 1 2008 2008
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1241 7 0.010 None 1.000 1 2008 2008
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1686 635 0.010 None 1.000 1 2018 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 937 50 0.010 None 1.000 1 2000 2000
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 358 27 0.010 None 1.000 1 2018 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.010 None 1.000 1 2008 2008
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 427 12 0.010 None 1.000 1 2018 2018
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2019 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.010 None 1.000 1 2018 2018