SH2B1, SH2B adaptor protein 1, 25970

N. diseases: 140; N. variants: 19
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1866432
Disease: OBESITY, SUSCEPTIBILITY TO
OBESITY, SUSCEPTIBILITY TO 		phenotype Finding 1 0.300 None 0
CUI: C3150154
Disease: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB 		disease Disease or Syndrome 1 0.300 None 0
CUI: C3150701
Disease: CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB 		disease Disease or Syndrome 1 0.300 None 0
CUI: C3150702
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16 		phenotype Finding 1 0.300 None 0
CUI: C3532946
Disease: Moderate receptive language delay
Moderate receptive language delay 		phenotype Mental or Behavioral Dysfunction 1 0.100 None 0
CUI: C3552491
Disease: AUTISM, SUSCEPTIBILITY TO, 14A
AUTISM, SUSCEPTIBILITY TO, 14A 		phenotype Finding 1 0.300 None 0
CUI: C1849683
Disease: No social interaction
No social interaction 		phenotype Mental Disorders Finding 5 3 0.100 None 0
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0
CUI: C3893645
Disease: response to ACE inhibitor
response to ACE inhibitor 		phenotype Organism Function 15 26 0.100 None 1.000 1 1 2017 2017
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 30 14 0.100 None 0
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease Nervous System Diseases Disease or Syndrome 35 4 0.100 None 0
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 192 0.010 None 1.000 1 2009 2009
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 16 0.100 None 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 4 0.100 None 0
CUI: C0005910
Disease: Body Weight
Body Weight 		phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 57 92 0.100 None 1.000 1 1 2009 2009
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 3 0.100 None 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2015 2015
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		phenotype Clinical Attribute 75 226 0.100 None 1.000 1 1 2017 2017
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 75 1 0.100 None 0
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		phenotype Diagnostic Procedure 88 252 0.100 None 1.000 2 2 2009 2009
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		phenotype Finding 88 252 0.100 None 1.000 2 2 2009 2009
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.100 None 0
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		phenotype Finding 90 119 0.100 None 1.000 1 1 2019 2019
CUI: C0023015
Disease: Language Disorders
Language Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 94 25 0.100 None 0