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.
Chromosome Xp11.23-P11.22 Duplication Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders Disease or Syndrome 1 0.300 None 1.000 1 2016 2016
CUI: C1845181
Disease: MENTAL RETARDATION, X-LINKED 78
MENTAL RETARDATION, X-LINKED 78
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2015 2015
Abnormal tracheobronchial morphology
disease Anatomical Abnormality 4 0.100 None 0
CUI: C1844007
Disease: Corticospinal tract hypoplasia
Corticospinal tract hypoplasia
phenotype Finding 5 0.100 None 0
EEG with centrotemporal focal spike waves
phenotype Finding 5 1 0.100 None 0
CUI: C0175713
Disease: Aicardi's syndrome
Aicardi's syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 1996 1996
CUI: C3854333
Disease: Narrowing
Narrowing
disease Anatomical Abnormality 8 0.010 None 1.000 1 2017 2017
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying
phenotype Finding 8 2 0.100 None 0
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing
disease Mental Disorders Mental or Behavioral Dysfunction 8 5 0.100 None 0
CUI: C2748652
Disease: Large face
Large face
phenotype Finding 11 0.100 None 0
CUI: C1849538
Disease: Delayed eruption of primary teeth
Delayed eruption of primary teeth
phenotype Finding 14 2 0.100 None 0
CUI: C0085426
Disease: Gram-Positive Bacterial Infections
Gram-Positive Bacterial Infections
group Infections Disease or Syndrome 17 1 0.010 None 1.000 1 2017 2017
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
phenotype Finding 19 0.100 None 0
CUI: C0034880
Disease: Hyperacusis
Hyperacusis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 9 0.100 None 0
CUI: C0006325
Disease: Bruxism
Bruxism
phenotype Stomatognathic Diseases Mental or Behavioral Dysfunction 24 9 0.010 None 1.000 1 2018 2018
CUI: C4021620
Disease: Clinodactyly of the 2nd toe
Clinodactyly of the 2nd toe
disease Anatomical Abnormality 32 0.100 None 0
Moderate sensorineural hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 34 1 0.100 None 0
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space
phenotype Finding 35 1 0.100 None 0
Mild neurosensory hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 0.100 None 0
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 40 4 0.100 None 0
CUI: C0266039
Disease: Taurodontism
Taurodontism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.100 None 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney
disease Anatomical Abnormality 40 0.100 None 0
Shortening of all distal phalanges of the fingers
phenotype Finding 40 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 41 4 0.100 None 0
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 45 29 0.720 strong 1.000 12 29 1992 2017