IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
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: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 0.300 None 1.000 1 2017 2017
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 48 11 0.100 None 0
CUI: C1858036
Disease: Periorbital fullness
Periorbital fullness 		phenotype Finding 57 4 0.100 None 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 63 0.100 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype Finding 73 10 0.100 None 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		phenotype Finding 73 2 0.100 None 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 75 1 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 80 6 0.100 None 0
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2018 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2018 2018
CUI: C0019825
Disease: Hoarseness
Hoarseness 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.100 None 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		disease Congenital Abnormality 85 16 0.100 None 0
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2018 2018
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 91 9 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype Finding 93 3 0.100 None 0
CUI: C0013132
Disease: Drooling
Drooling 		phenotype Stomatognathic Diseases Finding 95 14 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype Finding 96 11 0.100 None 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 97 12 0.100 None 0
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.100 None 1.000 1 1 2016 2016
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 1
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype Finding 108 8 0.100 None 0