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: C0013132
Disease: Drooling
Drooling
0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis
0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot
0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
0.100 Biomarker disease HPO
CUI: C0019825
Disease: Hoarseness
Hoarseness
0.100 Biomarker phenotype HPO
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.100 Biomarker disease HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia
0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.100 Biomarker phenotype HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 Biomarker disease HPO
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum
0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia
0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker phenotype HPO
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
0.100 Biomarker disease HPO
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis
0.100 Biomarker phenotype HPO
CUI: C0034880
Disease: Hyperacusis
Hyperacusis
0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
0.100 Biomarker phenotype HPO
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
0.100 Biomarker disease HPO