SETBP1, SET binding protein 1, 26040

N. diseases: 257; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.100 Biomarker disease HPO
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker disease HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.100 Biomarker disease HPO
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.100 Biomarker group HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0039538
Disease: Teratoma
Teratoma 		0.100 Biomarker disease HPO
CUI: C0039538
Disease: Teratoma
Teratoma 		0.100 GeneticVariation disease CLINVAR
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.100 Biomarker phenotype HPO
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		0.100 Biomarker disease HPO
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		0.100 Biomarker disease HPO
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		0.100 Biomarker phenotype HPO
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis 		0.100 Biomarker disease HPO
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		0.100 Biomarker disease HPO
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0239272
Disease: Elbow stiff
Elbow stiff 		0.100 Biomarker phenotype HPO
CUI: C0239676
Disease: High forehead
High forehead 		0.100 Biomarker phenotype HPO