MTAP, methylthioadenosine phosphorylase, 4507

N. diseases: 167; N. variants: 19
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: C1300202
Disease: Diaphyseal medullary stenosis with bone malignancy
Diaphyseal medullary stenosis with bone malignancy 		disease Neoplastic Process 1 0.300 None 0
CUI: C1862177
Disease: Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diaphyseal medullary stenosis with malignant fibrous histiocytoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome 2 0.600 None 1.000 1 2012 2012
CUI: C1833739
Disease: Diaphyseal cortical sclerosis
Diaphyseal cortical sclerosis 		phenotype Finding 2 0.100 None 0
CUI: C1849081
Disease: Metaphyseal striations
Metaphyseal striations 		phenotype Finding 2 0.100 None 0
CUI: C1855845
Disease: Patchy osteosclerosis
Patchy osteosclerosis 		phenotype Musculoskeletal Diseases Finding 3 0.100 None 0
CUI: C1864975
Disease: Osteomyelitis leading to amputation due to slow healing fractures
Osteomyelitis leading to amputation due to slow healing fractures 		phenotype Infections; Musculoskeletal Diseases Finding 3 1 0.100 None 0
CUI: C4022179
Disease: Stenosis of the medullary cavity of the long bones
Stenosis of the medullary cavity of the long bones 		disease Disease or Syndrome 3 0.100 None 0
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		phenotype Wounds and Injuries Finding 6 1 0.100 None 0
CUI: C0919645
Disease: Tumour ulceration
Tumour ulceration 		disease Neoplastic Process 7 2 0.010 None 1.000 1 2010 2010
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 7 12 0.010 None 1.000 1 1985 1985
CUI: C2739810
Disease: Lentigo maligna melanoma
Lentigo maligna melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 6 0.010 None 1.000 1 1 2011 2011
CUI: C1335377
Disease: periampullary adenocarcinoma
periampullary adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2005 2005
CUI: C0154971
Disease: Presenile cataract
Presenile cataract 		disease Eye Diseases Disease or Syndrome 8 2 0.100 None 0
CUI: C0334513
Disease: Sarcomatoid Mesothelioma
Sarcomatoid Mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 10 0.010 None 1.000 1 2018 2018
CUI: C4331269
Disease: Sacral Chordoma
Sacral Chordoma 		disease Neoplastic Process 10 0.010 None 1.000 1 2012 2012
CUI: C1509147
Disease: Histiocytoma
Histiocytoma 		disease Neoplasms Neoplastic Process 10 0.100 None 0
CUI: C0085679
Disease: Hyperchloremia
Hyperchloremia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 12 2 0.010 None 1.000 1 2019 2019
CUI: C0334424
Disease: Nodular melanoma
Nodular melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 15 3 0.010 None 1.000 1 1 2011 2011
CUI: C1377913
Disease: Pleural Mesothelioma
Pleural Mesothelioma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 19 0.010 None 1.000 1 2003 2003
CUI: C0041227
Disease: Trypanosomiasis
Trypanosomiasis 		disease Infections Disease or Syndrome 23 0.010 None 1.000 1 2017 2017
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		group Infections Disease or Syndrome 23 1 0.010 None 1.000 1 2019 2019
CUI: C0334438
Disease: Superficial spreading malignant melanoma of skin
Superficial spreading malignant melanoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 25 2 0.010 None 1.000 1 2011 2011
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 2 2018 2018
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 2 2018 2018
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		phenotype Wounds and Injuries Pathologic Function 35 2 0.100 None 0