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: C2751288
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 2
Neutropenia, Severe Congenital, Autosomal Dominant 2 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 1 0.700 strong 1.000 2 1 2003 2003
CUI: C1842930
Disease: Neutropenia, Nonimmune Chronic Idiopathic, Adult
Neutropenia, Nonimmune Chronic Idiopathic, Adult 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 1 0.600 strong 1.000 2 1 2003 2003
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.500 None 1.000 16 2007 2020
CUI: C0027947
Disease: Neutropenia
Neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.380 None 0.875 8 2003 2020
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Congenital Abnormality 68 11 0.370 strong 1.000 7 2003 2018
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 143 5 0.300 None 1.000 1 2007 2007
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 102 4 0.300 None 1.000 1 2005 2005
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 76 3 0.300 None 1.000 1 2005 2005
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 26 0.300 None 1.000 1 2003 2003
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.300 None 1.000 1 2005 2005
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		disease Neoplasms Neoplastic Process 138 0.300 None 1.000 1 2007 2007
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 7 0.300 None 1.000 1 2005 2005
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.300 None 1.000 1 2005 2005
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 0.300 None 1.000 1 2005 2005
CUI: C2930967
Disease: Gastro-enteropancreatic neuroendocrine tumor
Gastro-enteropancreatic neuroendocrine tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 41 4 0.300 None 1.000 1 2018 2018
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.300 None 1.000 1 2005 2005
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 66 26 0.270 None 1.000 7 2003 2018
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 8 0.200 None 0
CUI: C4290088
Disease: decreased absolute neurophile count (ANC)
decreased absolute neurophile count (ANC) 		phenotype Finding 1 0.200 None 0
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.180 None 1.000 8 2010 2020
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.120 None 1.000 3 1 2010 2016
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.110 None 1.000 1 2017 2017
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.110 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.900 10 2004 2019
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 0