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: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.720 limited 1.000 2 2013 2017
PERIVENTRICULAR NODULAR HETEROTOPIA 6
disease Disease or Syndrome 1 1 0.600 limited 1.000 1 1 2013 2013
CUI: C4304514
Disease: 6q terminal deletion syndrome
6q terminal deletion syndrome
disease Disease or Syndrome 1 0.310 None 1.000 1 2013 2013
Bilateral Periventricular Nodular Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 1 0.300 None 0
Periventricular Heterotopia, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 38 0.300 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.100 None 0
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.100 None 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly
disease Nervous System Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 96 19 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 95 15 0.100 None 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 159 25 0.100 None 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE
phenotype Finding 87 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype Finding 141 14 0.100 None 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 118 24 0.100 None 0