SH2B1, SH2B adaptor protein 1, 25970

N. diseases: 140; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 Biomarker group HPO
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 Biomarker group HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.100 Biomarker disease HPO
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.100 Biomarker disease HPO
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		0.100 Biomarker disease HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO