SH2B1 (SH2B adaptor protein 1)

Gene

• Entrez ID: 25970
• Gene name: SH2B adaptor protein 1
• Gene symbol: SH2B1
• Synonyms (NCBI Gene): PSM, SH2B
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced trans

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042612	hsa-miR-423-3p	CLASH	23622248
MIRT041887	hsa-miR-484	CLASH	23622248
MIRT037114	hsa-miR-877-3p	CLASH	23622248
MIRT037114	hsa-miR-877-3p	CLASH	23622248
MIRT499434	hsa-miR-6887-3p	PAR-CLIP	24398324
MIRT499433	hsa-miR-4315	PAR-CLIP	24398324
MIRT499432	hsa-miR-1236-3p	PAR-CLIP	24398324
MIRT499430	hsa-miR-6846-3p	PAR-CLIP	24398324
MIRT499431	hsa-miR-3160-5p	PAR-CLIP	24398324
MIRT499429	hsa-miR-4497	PAR-CLIP	24398324
MIRT731577	hsa-miR-361-3p	Luciferase reporter assay	27164951
MIRT731577	hsa-miR-361-3p	Luciferase reporter assay	27164951
MIRT499434	hsa-miR-6887-3p	PAR-CLIP	24398324
MIRT499433	hsa-miR-4315	PAR-CLIP	24398324
MIRT499432	hsa-miR-1236-3p	PAR-CLIP	24398324
MIRT499430	hsa-miR-6846-3p	PAR-CLIP	24398324
MIRT499431	hsa-miR-3160-5p	PAR-CLIP	24398324
MIRT499429	hsa-miR-4497	PAR-CLIP	24398324
MIRT1344108	hsa-miR-1225-3p	CLIP-seq
MIRT1344109	hsa-miR-129-3p	CLIP-seq
MIRT1344110	hsa-miR-2110	CLIP-seq
MIRT1344111	hsa-miR-2277-3p	CLIP-seq
MIRT1344112	hsa-miR-28-5p	CLIP-seq
MIRT1344113	hsa-miR-3139	CLIP-seq
MIRT1344114	hsa-miR-3620	CLIP-seq
MIRT1344115	hsa-miR-3660	CLIP-seq
MIRT1344116	hsa-miR-3670	CLIP-seq
MIRT1344117	hsa-miR-3679-3p	CLIP-seq
MIRT1344118	hsa-miR-3944-3p	CLIP-seq
MIRT1344119	hsa-miR-4271	CLIP-seq
MIRT1344120	hsa-miR-4492	CLIP-seq
MIRT1344121	hsa-miR-4498	CLIP-seq
MIRT1344122	hsa-miR-4505	CLIP-seq
MIRT1344123	hsa-miR-4506	CLIP-seq
MIRT1344124	hsa-miR-4526	CLIP-seq
MIRT1344125	hsa-miR-4725-3p	CLIP-seq
MIRT1344126	hsa-miR-4731-5p	CLIP-seq
MIRT1344127	hsa-miR-4749-3p	CLIP-seq
MIRT1344128	hsa-miR-490-5p	CLIP-seq
MIRT1344129	hsa-miR-569	CLIP-seq
MIRT1344130	hsa-miR-637	CLIP-seq
MIRT1344131	hsa-miR-708	CLIP-seq
MIRT1344132	hsa-miR-762	CLIP-seq
MIRT1344108	hsa-miR-1225-3p	CLIP-seq
MIRT1344109	hsa-miR-129-3p	CLIP-seq
MIRT2621820	hsa-miR-1915	CLIP-seq
MIRT1344110	hsa-miR-2110	CLIP-seq
MIRT1344111	hsa-miR-2277-3p	CLIP-seq
MIRT2621821	hsa-miR-3151	CLIP-seq
MIRT1344114	hsa-miR-3620	CLIP-seq
MIRT1344117	hsa-miR-3679-3p	CLIP-seq
MIRT1344118	hsa-miR-3944-3p	CLIP-seq
MIRT1344119	hsa-miR-4271	CLIP-seq
MIRT2621822	hsa-miR-4283	CLIP-seq
MIRT2621823	hsa-miR-4489	CLIP-seq
MIRT1344120	hsa-miR-4492	CLIP-seq
MIRT1344121	hsa-miR-4498	CLIP-seq
MIRT1344122	hsa-miR-4505	CLIP-seq
MIRT1344123	hsa-miR-4506	CLIP-seq
MIRT2621824	hsa-miR-4656	CLIP-seq
MIRT1344125	hsa-miR-4725-3p	CLIP-seq
MIRT1344126	hsa-miR-4731-5p	CLIP-seq
MIRT1344127	hsa-miR-4749-3p	CLIP-seq
MIRT1344129	hsa-miR-569	CLIP-seq
MIRT1344130	hsa-miR-637	CLIP-seq
MIRT1344132	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005068	Function	Transmembrane receptor protein tyrosine kinase adaptor activity	IBA
GO:0005515	Function	Protein binding	IPI	9742218, 16273093, 24396070, 24658140, 31585087, 31980649, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0030032	Process	Lamellipodium assembly	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IEA
GO:0048870	Process	Cell motility	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IGI	28334068
GO:2000278	Process	Regulation of DNA biosynthetic process	IEA

Other IDs

• MIM: 608937
• HGNC: 30417
• e!Ensembl: ENSG00000178188

Protein

• UniProt ID: Q9NRF2
• Protein name: SH2B adapter protein 1 (Pro-rich, PH and SH2 domain-containing signaling mediator) (PSM) (SH2 domain-containing protein 1B)
• Protein function: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth facto
• PDB: 5W3R
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08916	Phe_ZIP	25 → 81	Phenylalanine zipper	Domain
  PF00169	PH	270 → 376	PH domain	Domain
  PF00017	SH2	527 → 604	SH2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with highest levels in skeletal muscle and ovary. {ECO:0000269|PubMed:15767667}.
• Sequence:

  MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGA
  EAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEISPHDLSLESCRVGGPLAVL
  GPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPS
  SAGPLETSSGPPVLGGNSNSNSSGGAGTVGRGLVSDGTSPGERWTHRFERLRLSRGGGAL
  KDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSGGGGQPQWQKCRLLLRSEGEG
  GGGSRLEFFVPPKASRPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVD
  AQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPS
  QDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEE
  GPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQL
  VLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDM
  LEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQEPTTSHDPPQPPEPPSWTDPPQPGAEEA
  SRAPEVAAAAAAAAKERQEKEKAGGGGVPEELVPVVELVPVVELEEAIAPGSEAQGAGSG
  GDAGVPPMVQLQQSPLGGDGEEGGHPRAINNQYSFV

• Sequence length: 756

Pathways

KEGG:

Neurotrophin signaling pathway

Reactome:

Prolactin receptor signaling
Growth hormone receptor signaling
Factors involved in megakaryocyte development and platelet production

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHROMOSOME 16P11.2 DELETION SYNDROME, 220-KB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal 16p11.2 microdeletion syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SH2B1-associated disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SH2B1-associated obesity	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SH2B1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29380446		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	9215402		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27802221		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	29459495		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24560518		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24560518	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29459495		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	31754094		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	31754094	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29849792, 31739166		★☆☆☆☆ Found in Text Mining only
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB	CHROMOSOME 16p11.2 DELETION SYNDROME	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB	CHROMOSOME 16p11.2 DELETION SYNDROME	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31340853		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30460749		★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30370521		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31984680	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30460749		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	24971614	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21907990		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21907990	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	27802221		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	31226136		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	20540750, 20808231, 22234155, 24971614	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29127727		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21907990, 28694205	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29127727, 30460749		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21907990, 21912638, 31754094, 37586323	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21907990, 21912638, 24103803, 24528214, 28816532		★☆☆☆☆ Found in Text Mining only
Distal 16p11.2 microdeletion syndrome	Distal 16p11.2 Microdeletion Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	28694205	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	31226136		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33356989	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	32365683	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	32365683	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20808231, 26031769, 28544142		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	19542202		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24103803		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	39897959	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30460749		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30733674		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33601420	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23160192, 24971614	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33299884	Inhibit	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30127966		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30460749		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	32365683	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22901222	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29849792, 31739166		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12373303, 12949815, 17929272, 26503549, 9126242		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29849792		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26503549, 31739166		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37586323	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	39897959	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	23054017		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21907990		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	21907990	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34635168	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10498874, 12949815, 17929272, 22901222, 27164951, 29380446, 30202243, 9126242, 9215402		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29849792		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30733674		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	22234155		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	19851340		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22901222, 27164951, 30202243, 31417870		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17228025, 19079261, 19164386, 19692490, 19910938, 20540750, 20616199, 20725061, 20808231, 21907990, 21912638, 22234155, 22248999, 22513296, 23160192, 23270367, 23349760, 23950976, 24560518, 24971614, 25955518, 26449484, 29976977, 32365683, 33299884, 36775011, 37329217, 39743445, 39897959	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	19079261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	20540750, 20616199, 20725061, 20808231, 21796137, 21907990, 22083549, 22234155, 22248999, 23121087, 23160192, 23270367, 23519644, 23640704, 23825611, 23843577, 23950976, 24103803, 24528214, 24560518, 24621099, 24971614, 25955518, 26031769, 26263223, 28544142, 29127727, 29976977, 31739166, 31754094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GENOMICS_ENGLAND_DG	23160192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASCAT_DG	23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	GWASDB_DG	23563607		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	BEFREE	31739166		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	26421979		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	27802221		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12373303, 12949815, 17929272, 19107881, 26503549, 9126242		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	9215402		★☆☆☆☆ Found in Text Mining only
Proximal 16p11.2 microdeletion syndrome	Proximal 16p11.2 Microdeletion Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	28977211	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	10939590, 18506774		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24971614		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	24971614	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	30803986	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	30733674		★☆☆☆☆ Found in Text Mining only
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	Obesity	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29849792		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syringomyelia	Syringomyelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only