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.
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
disease Disease or Syndrome 1 38 0.610 strong 1.000 14 38 2004 2017
CUI: C2363747
Disease: Neurological decompensation
Neurological decompensation
phenotype Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C4024976
Disease: Episodic generalized hypotonia
Episodic generalized hypotonia
disease Anatomical Abnormality 1 0.100 None 0
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 11 0.800 strong 1.000 19 11 2012 2019
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
disease Nervous System Diseases Disease or Syndrome 2 7 0.010 None 1.000 1 2018 2018
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
disease Disease or Syndrome 2 1 0.300 strong 1.000 1 2012 2012
CUI: C1863062
Disease: Episodic quadriplegia
Episodic quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C4022010
Disease: Maternal seizures
Maternal seizures
phenotype Finding 3 3 0.100 None 0 1
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 5 2 0.020 None 1.000 2 2 2014 2017
Severe nonproliferative diabetic retinopathy
disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 5 3 0.010 None 1.000 1 2019 2019
CUI: C0457756
Disease: Tooth absent
Tooth absent
phenotype Finding 5 6 0.100 None 0 1
CUI: C0021479
Disease: INJECTED EYE
INJECTED EYE
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 6 0.010 None 1.000 1 2017 2017
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality 6 2 0.010 None 1.000 1 2017 2017
CUI: C1865322
Disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2
disease Nervous System Diseases Disease or Syndrome 6 14 0.010 None 1.000 1 2012 2012
CUI: C0236780
Disease: Mixed bipolar I disorder
Mixed bipolar I disorder
disease Mental Disorders Mental or Behavioral Dysfunction 7 0.200 None 0
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 8 4 0.900 None 0.977 44 4 2009 2019
CUI: C3554568
Disease: Young adult onset
Young adult onset
phenotype Finding 8 0.100 None 0
CUI: C1868681
Disease: DYSTONIA 12
DYSTONIA 12
disease Nervous System Diseases Disease or Syndrome 9 25 0.800 None 0.982 55 25 2004 2019
CUI: C0743841
Disease: Disorder characterized by fever
Disorder characterized by fever
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 1 0.010 None 1.000 1 2018 2018
CUI: C0085637
Disease: Oculogyric crisis
Oculogyric crisis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 9 3 0.100 None 0 3
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe
disease Anatomical Abnormality 9 1 0.100 None 0 1
CUI: C0270862
Disease: Hemiplegic migraine
Hemiplegic migraine
disease Nervous System Diseases Disease or Syndrome 10 14 0.010 None 1.000 1 3 2015 2015
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked
disease Eye Diseases Disease or Syndrome 10 16 0.010 None 1.000 1 2011 2011
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
phenotype Nervous System Diseases Finding 13 7 0.100 None 0 1
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 18 0.300 None 1.000 1 2004 2004