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.
SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
disease Disease or Syndrome 1 5 0.630 None 1.000 4 5 2016 2019
CUI: C0152216
Disease: Esophoria
Esophoria
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination
disease Anatomical Abnormality 9 4 0.100 None 0
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
disease Mental Disorders Mental or Behavioral Dysfunction 12 1 0.010 None 1.000 1 2016 2016
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology
phenotype Anatomical Abnormality 12 13 0.100 None 0 1
Occult chronic type B viral hepatitis
disease Digestive System Diseases; Infections Disease or Syndrome 13 4 0.010 None 1.000 1 2011 2011
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles
phenotype Finding 23 3 0.100 None 0
Ph-Like Acute Lymphoblastic Leukemia
disease Neoplastic Process 30 1 0.010 None 1.000 1 2017 2017
CUI: C0018808
Disease: Heart murmur
Heart murmur
phenotype Pathological Conditions, Signs and Symptoms Finding 31 10 0.100 None 0 1
CUI: C1398312
Disease: Narrow palate
Narrow palate
phenotype Finding 40 5 0.100 None 0 1
CUI: C0279613
Disease: Childhood Alveolar Rhabdomyosarcoma
Childhood Alveolar Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 59 0.020 None 1.000 2 2013 2020
CUI: C1855483
Disease: Progressive spastic paraplegia
Progressive spastic paraplegia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 1 0.100 None 0
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
disease Disease or Syndrome 65 3 0.010 None 1.000 1 1994 1994
Childhood Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 2020 2020
CUI: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors
disease Neoplasms Neoplastic Process 73 2 0.010 None 1.000 1 2013 2013
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 80 43 0.010 None 1.000 1 2011 2011
CUI: C1853241
Disease: Flat face
Flat face
phenotype Finding 83 7 0.100 None 0 1
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
disease Neoplasms; Immune System Diseases Neoplastic Process 94 11 0.010 None 1.000 1 2015 2015
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 98 8 0.010 None 1.000 1 2015 2015
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 99 12 0.010 None 1.000 1 2017 2017
CUI: C1866231
Disease: Full cheeks
Full cheeks
phenotype Finding 103 4 0.100 None 0
CUI: C0009917
Disease: Contracture
Contracture
disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 2017 2017
CUI: C1277241
Disease: Delayed myelination
Delayed myelination
phenotype Mental Disorders Finding 112 6 0.100 None 0