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: C1327919
Disease: Myelocerebellar Disorder
Myelocerebellar Disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 4 0.720 None 1.000 4 4 2016 2019
CUI: C4021661
Disease: Abnormal macrophage morphology
Abnormal macrophage morphology 		phenotype Finding 2 0.100 None 0
CUI: C1854978
Disease: Monosomy 7 of Bone Marrow
Monosomy 7 of Bone Marrow 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2018 2018
CUI: C4284088
Disease: MIRAGE SYNDROME
MIRAGE SYNDROME 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 4 0.020 None 1.000 2 2018 2019
CUI: C0178416
Disease: Hypoplastic anemia
Hypoplastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0010232
Disease: Cowpox
Cowpox 		disease Infections Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C4476767
Disease: Diffuse alveolar hemorrhage
Diffuse alveolar hemorrhage 		disease Disease or Syndrome 21 0.010 None 1.000 1 2019 2019
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		phenotype Finding 21 2 0.100 None 0
CUI: C0575090
Disease: Equilibration disorder
Equilibration disorder 		phenotype Nervous System Diseases Sign or Symptom 22 1 0.010 None 1.000 1 2018 2018
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 0
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.200 None 1.000 2 2011 2013
CUI: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		phenotype Finding 39 4 0.100 None 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype Finding 58 5 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		disease Neoplasms Neoplastic Process 105 3 0.100 None 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 143 14 0.100 None 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 183 7 0.100 None 0
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.020 None 1.000 2 2013 2018
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.120 None 1.000 2 1 2016 2019
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		group Hemic and Lymphatic Diseases Disease or Syndrome 255 16 0.020 None 1.000 2 2018 2019