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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 Biomarker disease HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.100 Biomarker phenotype HPO
CUI: C0037822
Disease: Speech Disorders
Speech Disorders
0.100 Biomarker group HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior
0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
0.100 Biomarker phenotype HPO
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior
0.100 Biomarker phenotype HPO
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder
0.100 Biomarker disease HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia
0.100 Biomarker disease HPO
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly
0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness
0.100 Biomarker phenotype HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.100 Biomarker disease HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
0.100 Biomarker phenotype HPO
Small for gestational age (disorder)
0.100 Biomarker phenotype HPO
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
0.100 Biomarker phenotype HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
0.100 Biomarker phenotype HPO
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
0.100 Biomarker disease HPO
CUI: C0266039
Disease: Taurodontism
Taurodontism
0.100 Biomarker disease HPO