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: C0028754
Disease: Obesity
Obesity 		0.700 Biomarker disease HPO
CUI: C1866432
Disease: OBESITY, SUSCEPTIBILITY TO
OBESITY, SUSCEPTIBILITY TO 		0.300 ChromosomalRearrangement phenotype ORPHANET
CUI: C3150154
Disease: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C3150701
Disease: CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C3150702
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16 		0.300 ChromosomalRearrangement phenotype ORPHANET
CUI: C3552491
Disease: AUTISM, SUSCEPTIBILITY TO, 14A
AUTISM, SUSCEPTIBILITY TO, 14A 		0.300 ChromosomalRearrangement phenotype ORPHANET
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.110 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.100 Biomarker disease HPO
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0.100 Biomarker disease HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 Biomarker disease HPO
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0023015
Disease: Language Disorders
Language Disorders 		0.100 Biomarker group HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO