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 Hemic and Lymphatic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 2 0.700 3 2 1978 2016
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 2 2016 2017
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 2 2016 2017
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 1 2017 2017
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
disease Hemic and Lymphatic Diseases Pathologic Function 36 0.200 2 2011 2013
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1112 674 0.100 1 1 2014 2014
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration
disease Disease or Syndrome 192 0.100 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 28 0.100 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 189 6 0.100 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.100 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes
phenotype Finding 12 0.100 0
Impaired vibration sensation in the lower limbs
phenotype Finding 17 2 0.100 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
phenotype Finding 51 3 0.100 0
Aplasia/Hypoplasia of the cerebellum
phenotype Finding 66 1 0.100 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Finding 212 0.100 0
CUI: C4020873
Disease: Infratentorial atrophy
Infratentorial atrophy
disease Disease or Syndrome 166 8 0.100 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
phenotype Finding 17 0.100 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 81 4 0.100 0
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 51 2 0.100 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 281 19 0.100 0
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia
disease Neoplasms Neoplastic Process 80 0.100 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.100 0
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 115 2 0.100 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 144 1 0.100 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
group Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 92 2 0.100 0