IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006325
Disease: Bruxism
Bruxism 		0.010 GeneticVariation phenotype BEFREE RTT-associated features included the following: loss of hand or language skills (n = 3; IQSEC2, KCNB1 x 2); disrupted sleep (n = 4; KNCB1, MEIS2, TCF4, WDR45); stereotyped hand movements (n = 5; FOXG1, KNCB1 x 2, MEIS2, TCF4); bruxism (n = 3; KCNB1 x 2; TCF4); and hypotonia (n = 7). 29322350 2018
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 GeneticVariation disease BEFREE RTT-associated features included the following: loss of hand or language skills (n = 3; IQSEC2, KCNB1 x 2); disrupted sleep (n = 4; KNCB1, MEIS2, TCF4, WDR45); stereotyped hand movements (n = 5; FOXG1, KNCB1 x 2, MEIS2, TCF4); bruxism (n = 3; KCNB1 x 2; TCF4); and hypotonia (n = 7). 29322350 2018
CUI: C0085426
Disease: Gram-Positive Bacterial Infections
Gram-Positive Bacterial Infections 		0.010 Biomarker group BEFREE These data support further clinical development of oral MRX-I in the treatment of resistant Gram-positive bacterial infections. 28167545 2017
CUI: C3854333
Disease: Narrowing
Narrowing 		0.010 Biomarker disease BEFREE The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. 28815955 2017
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 GeneticVariation phenotype BEFREE Taken together, the data suggest that gains in Xp11.22 including IQSEC2 cause ID and are associated with hyperactivity and attention-deficit/hyperactivity disorder, and are likely to be dosage-sensitive in males. 26059843 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 Biomarker disease BEFREE A number of human neurological disorders have been mapped to the Xp22 region, including Aicardi syndrome (MIM 304050), Rett syndrome (MIM 312750), X-linked Charcot-Marie-Tooth neuropathy (MIM 302801), and X-linked mental retardation syndromes (MRX1, MIM 309530). 8661015 1996
CUI: C0017638
Disease: Glioma
Glioma 		0.010 Biomarker disease BEFREE Identification of a novel Bcl-2 related gene, BRAG-1, in human glioma. 8649811 1996
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group BEFREE A number of human neurological disorders have been mapped to the Xp22 region, including Aicardi syndrome (MIM 304050), Rett syndrome (MIM 312750), X-linked Charcot-Marie-Tooth neuropathy (MIM 302801), and X-linked mental retardation syndromes (MRX1, MIM 309530). 8661015 1996
CUI: C0175713
Disease: Aicardi's syndrome
Aicardi's syndrome 		0.010 GeneticVariation disease BEFREE A number of human neurological disorders have been mapped to the Xp22 region, including Aicardi syndrome (MIM 304050), Rett syndrome (MIM 312750), X-linked Charcot-Marie-Tooth neuropathy (MIM 302801), and X-linked mental retardation syndromes (MRX1, MIM 309530). 8661015 1996
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereotypies but is yet to be fully described. 30666632 2019
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 GeneticVariation disease BEFREE Whole exome sequencing identified a truncating pathogenic variant in IQSEC2 at NM_001111125.2: c.2679_2680insA, p.(D894fs*10), a recently identified cause of epileptic encephalopathy in females (MIM 300522). 28295038 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.020 GeneticVariation disease BEFREE Herein we characterize the epilepsy/epileptic encephalopathy of patients with IQSEC2 pathogenic variants. 27665735 2016
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE Here we report two novel IQSEC2 de novo truncating mutations identified through diagnostic exome sequencing in two severely affected unrelated male probands manifesting developmental delay, seizures, hypotonia, plagiocephaly, and abnormal MRI findings. 24306141 2014
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. 30279470 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 Biomarker group BEFREE IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. 30206421 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.030 GeneticVariation group BEFREE An IQSEC2 nonsense variant was detected in the female ID patient, providing further evidence for a role of this gene in encephalopathy in females. 25649377 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.100 GeneticVariation disease CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 CausalMutation disease CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290 2016
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation disease CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290 2016
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290 2016
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.100 CausalMutation disease CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290 2016
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO