SGSM3 (small G protein signaling modulator 3)

Gene

• Entrez ID: 27352
• Gene name: Small G protein signaling modulator 3
• Gene symbol: SGSM3
• Synonyms (NCBI Gene): CIP85, MAP, RABGAP5, RUSC3, RUTBC3, RabGAP-5, rabGAPLP
• Chromosome: 22
• Chromosome location: 22q13.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022600	hsa-miR-124-3p	Microarray	18668037
MIRT051662	hsa-let-7e-5p	CLASH	23622248
MIRT437525	hsa-miR-19b-3p	Immunoprecipitaion	22382630
MIRT1343907	hsa-miR-1207-3p	CLIP-seq
MIRT1343908	hsa-miR-3132	CLIP-seq
MIRT1343909	hsa-miR-3202	CLIP-seq
MIRT1343910	hsa-miR-4281	CLIP-seq
MIRT1343911	hsa-miR-4305	CLIP-seq
MIRT1343912	hsa-miR-4436b-3p	CLIP-seq
MIRT1343913	hsa-miR-4449	CLIP-seq
MIRT1343914	hsa-miR-4476	CLIP-seq
MIRT1343915	hsa-miR-4532	CLIP-seq
MIRT1343916	hsa-miR-4747-3p	CLIP-seq
MIRT1343917	hsa-miR-4777-5p	CLIP-seq
MIRT1343918	hsa-miR-518d-5p	CLIP-seq
MIRT1343919	hsa-miR-519b-5p	CLIP-seq
MIRT1343920	hsa-miR-519c-5p	CLIP-seq
MIRT1343921	hsa-miR-520c-5p	CLIP-seq
MIRT1343922	hsa-miR-526a	CLIP-seq
MIRT2101709	hsa-miR-1224-3p	CLIP-seq
MIRT2101710	hsa-miR-371-5p	CLIP-seq
MIRT2101711	hsa-miR-371b-5p	CLIP-seq
MIRT2101712	hsa-miR-513c	CLIP-seq
MIRT2101713	hsa-miR-514b-5p	CLIP-seq
MIRT1343907	hsa-miR-1207-3p	CLIP-seq
MIRT2101709	hsa-miR-1224-3p	CLIP-seq
MIRT2326081	hsa-miR-1260	CLIP-seq
MIRT2326082	hsa-miR-1260b	CLIP-seq
MIRT2326083	hsa-miR-1267	CLIP-seq
MIRT2326084	hsa-miR-1280	CLIP-seq
MIRT1343908	hsa-miR-3132	CLIP-seq
MIRT2326085	hsa-miR-338-3p	CLIP-seq
MIRT2326086	hsa-miR-361-3p	CLIP-seq
MIRT2326087	hsa-miR-3657	CLIP-seq
MIRT1343910	hsa-miR-4281	CLIP-seq
MIRT1343913	hsa-miR-4449	CLIP-seq
MIRT2326088	hsa-miR-4457	CLIP-seq
MIRT1343915	hsa-miR-4532	CLIP-seq
MIRT2326089	hsa-miR-4661-5p	CLIP-seq
MIRT2326090	hsa-miR-4669	CLIP-seq
MIRT2326091	hsa-miR-513b	CLIP-seq
MIRT2326092	hsa-miR-532-3p	CLIP-seq
MIRT2326093	hsa-miR-592	CLIP-seq
MIRT2326094	hsa-miR-599	CLIP-seq
MIRT2326095	hsa-miR-624	CLIP-seq
MIRT2326096	hsa-miR-767-3p	CLIP-seq
MIRT2459253	hsa-miR-1910	CLIP-seq
MIRT2459254	hsa-miR-3179	CLIP-seq
MIRT1343909	hsa-miR-3202	CLIP-seq
MIRT2459255	hsa-miR-3936	CLIP-seq
MIRT2459256	hsa-miR-4533	CLIP-seq
MIRT2459257	hsa-miR-455-3p	CLIP-seq
MIRT2459258	hsa-miR-4651	CLIP-seq
MIRT2459259	hsa-miR-608	CLIP-seq
MIRT2459253	hsa-miR-1910	CLIP-seq
MIRT2459254	hsa-miR-3179	CLIP-seq
MIRT1343909	hsa-miR-3202	CLIP-seq
MIRT2459255	hsa-miR-3936	CLIP-seq
MIRT2459256	hsa-miR-4533	CLIP-seq
MIRT2459257	hsa-miR-455-3p	CLIP-seq
MIRT2459258	hsa-miR-4651	CLIP-seq
MIRT2459259	hsa-miR-608	CLIP-seq
MIRT2621722	hsa-miR-1200	CLIP-seq
MIRT2101709	hsa-miR-1224-3p	CLIP-seq
MIRT2621723	hsa-miR-1236	CLIP-seq
MIRT2621724	hsa-miR-1263	CLIP-seq
MIRT2621725	hsa-miR-1273g	CLIP-seq
MIRT2621726	hsa-miR-3127-3p	CLIP-seq
MIRT2621727	hsa-miR-340	CLIP-seq
MIRT2326086	hsa-miR-361-3p	CLIP-seq
MIRT2621728	hsa-miR-3663-3p	CLIP-seq
MIRT2621729	hsa-miR-4318	CLIP-seq
MIRT2621730	hsa-miR-4324	CLIP-seq
MIRT2326088	hsa-miR-4457	CLIP-seq
MIRT2326089	hsa-miR-4661-5p	CLIP-seq
MIRT2326091	hsa-miR-513b	CLIP-seq
MIRT2621731	hsa-miR-544b	CLIP-seq
MIRT2621732	hsa-miR-548g	CLIP-seq
MIRT2621733	hsa-miR-583	CLIP-seq
MIRT2326095	hsa-miR-624	CLIP-seq
MIRT2621734	hsa-miR-642a	CLIP-seq
MIRT2621735	hsa-miR-665	CLIP-seq
MIRT2621722	hsa-miR-1200	CLIP-seq
MIRT2621723	hsa-miR-1236	CLIP-seq
MIRT2621726	hsa-miR-3127-3p	CLIP-seq
MIRT2621727	hsa-miR-340	CLIP-seq
MIRT2621728	hsa-miR-3663-3p	CLIP-seq
MIRT2621730	hsa-miR-4324	CLIP-seq
MIRT2326089	hsa-miR-4661-5p	CLIP-seq
MIRT2621731	hsa-miR-544b	CLIP-seq
MIRT2621733	hsa-miR-583	CLIP-seq
MIRT2621734	hsa-miR-642a	CLIP-seq
MIRT2621735	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	16086013, 17562788
GO:0005096	Function	GTPase activator activity	IMP	16086013
GO:0005515	Function	Protein binding	IPI	17509819, 28514442, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	17562788
GO:0005921	Component	Gap junction	IEA
GO:0016197	Process	Endosomal transport	IMP	16086013
GO:0030100	Process	Regulation of endocytosis	IMP	16086013
GO:0031267	Function	Small GTPase binding	IDA	17509819
GO:0031267	Function	Small GTPase binding	IPI	17562788
GO:0032483	Process	Regulation of Rab protein signal transduction	IEP	17509819
GO:0032486	Process	Rap protein signal transduction	IEP	17509819
GO:0043547	Process	Positive regulation of GTPase activity	IDA	17562788
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0048227	Process	Plasma membrane to endosome transport	IMP	16086013, 17562788
GO:0051726	Process	Regulation of cell cycle	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	17646400

Other IDs

• MIM: 610440
• HGNC: 25228
• e!Ensembl: ENSG00000100359

Protein

• UniProt ID: Q96HU1
• Protein name: Small G protein signaling modulator 3 (Merlin-associated protein) (RUN and TBC1 domain-containing protein 3) (Rab-GTPase-activating protein-like protein) (RabGAPLP)
• Protein function: May play a cooperative role in NF2-mediated growth suppression of cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00566	RabGAP-TBC	117 → 325	Rab-GTPase-TBC domain	Family
  PF00018	SH3_1	486 → 531	SH3 domain	Domain
  PF02759	RUN	563 → 717	RUN domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:17509819}.
• Sequence:

  MSGSHTPACGPFSALTPSIWPQEILAKYTQKEESAEQPEFYYDEFGFRVYKEEGDEPGSS
  LLANSPLMEDAPQRLRWQAHLEFTHNHDVGDLTWDKIAVSLPRSEKLRSLVLAGIPHGMR
  PQLWMRLSGALQKKRNSELSYREIVKNSSNDETIAAKQIEKDLLRTMPSNACFASMGSIG
  VPRLRRVLRALAWLYPEIGYCQGTGMVAACLLLFLEEEDAFWMMSAIIEDLLPASYFSTT
  LLGVQTDQRVLRHLIVQYLPRLDKLLQEHDIELSLITLHWFLTAFASVVDIKLLLRIWDL
  FFYEGSRVLFQLTLGMLHLKEEELIQSENSASIFNTLSDIPSQMEDAELLLGVAMRLAGS
  LTDVAVETQRRKHLAYLIADQGQLLGAGTLTNLSQVVRRRTQRRKSTITALLFGEDDLEA
  LKAKNIKQTELVADLREAILRVARHFQCTDPKNCSVELTPDYSMESHQRDHENYVACSRS
  HRRRAKALLDFERHDDDELGFRKNDIITIVSQKDEHCWVGELNGLRGWFPAKFVEVLDER
  SKEYSIAGDDSVTEGVTDLVRGTLCPALKALFEHGLKKPSLLGGACHPWLFIEEAAGREV
  ERDFASVYSRLVLCKTFRLDEDGKVLTPEELLYRAVQSVNVTHDAVHAQMDVKLRSLICV
  GLNEQVLHLWLEVLCSSLPTVEKWYQPWSFLRSPGWVQIKCELRVLCCFAFSLSQDWELP
  AKREAQQPLKEGVRDMLVKHHLFSWDVDG

• Sequence length: 749

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 84	Likely pathogenic	rs754440220	RCV006251225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SGSM3-related intellectual disability	Likely pathogenic	rs754440220	RCV003388931	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	28331492		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	15306824, 30060484		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10963846, 21307665		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	21993963		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19513565		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21307665		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17947820, 19931546		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	14566975		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29699690		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	20578891, 21900390		★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	BEFREE	30208377		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27871059, 29032340, 29260272, 31383884		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28926576		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27871059, 29032340, 29260272, 31383884		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27738066		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	23492997, 28640105		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29693742		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	23737503		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	27355979, 29298438		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12525252, 12689669, 18032924, 20332114, 27037627, 27221882, 27432265, 9652748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	25342443, 25417742	Associate	★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	31082732		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	27355979, 29298438		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10402237, 14991899, 15141374, 15184884, 22154358, 24847881		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23918301	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10856967, 29693742		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16175182, 23658296, 30442941		★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	BEFREE	17551924, 24719372, 27751966		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	31203918		★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	15958502		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	12025943		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	BEFREE	19560950		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29210137, 29777579, 31464591		★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	25524464, 29880043		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	17035059, 18362896		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27932204		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30829649		★☆☆☆☆ Found in Text Mining only
Chronic venous insufficiency	Venous Insufficiency	BEFREE	19560950		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	28596423		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12865932, 22505523, 23073477		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14688025, 15987719, 19014680, 20418187, 22875147, 22965873, 24180698, 28476816, 29746241, 29800258, 30515612		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29085228	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28215740		★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	24719372		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	27751966		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21484317, 22412931, 29666620, 30616527		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	9659357		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	19267386		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	30704333		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19618280		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19618280, 27297874, 29615288		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18296638, 31274351, 31691802		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30907011		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	15068236		★☆☆☆☆ Found in Text Mining only
Dysembryoplastic neuroepithelial tumor	Dysembryoplastic Neuroepithelial Tumor	BEFREE	26920151		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30704333		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	14623541		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28716058, 31532186		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	19209125, 20578891		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	11193139		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	28422736		★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	25524464, 29880043		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	19614767, 23942094, 24897389, 25572173, 25831232		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21406405, 23115159, 28822081		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21406405, 23115159, 28822081		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17406030		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	26526145		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	19931546		★☆☆☆☆ Found in Text Mining only
Hermaphroditism	Hermaphroditism	BEFREE	30656805		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27098187, 27529534		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31150695		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27939827, 29260272, 29382548, 30383542, 31074108, 31464591, 31607174		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29396422, 30616527		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	24737428		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	22183880		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	BEFREE	19603027		★☆☆☆☆ Found in Text Mining only
Keratosis pilaris	Keratosis pilaris	BEFREE	31470515		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31196660		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27864895, 28885664, 30535664, 31332896		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24589925		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15978940, 22212957, 26212328, 29320732		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	23238519, 29735981		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19639210, 23232767, 23918301, 24189458, 24574717, 26941395		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12367560, 31318609		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	17878398		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	19931546		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	30103469		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	18923405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Meningioma	Malignant Meningioma	BEFREE	17912429		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12525252, 12689669, 18032924, 20332114, 23900300, 24708766, 27037627, 27221882, 27432265, 28291685, 9652748		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	14623541		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	31463132		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	28422736		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16175182, 23658296, 30442941, 31195180		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	23238519, 29735981		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31756395, 9202670		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11336792, 16114056, 19079609, 25640606, 25867060, 27753136		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19497102		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	18032931, 18651802, 21185263, 21383698, 26208433, 26943572, 29262541		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29693742		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11796827, 16443928, 17496922, 19218430, 19404918, 19915144, 20425073, 21267466, 21387288, 22187671, 22277058, 24306928, 24589925, 24769729, 25198898, 25847954, 26010611, 27078850, 28069687, 28215705, 28422736, 28545025, 29088801, 29267206, 29422527, 29565994, 29596465, 29693742, 29800258, 30794926		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	20680410		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22505523, 23073477		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome, Type I	Marfan Syndrome	BEFREE	1613769		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12460918, 17318262, 19737955, 19915144, 20425073, 22796458, 22945644, 23614898, 23752084, 23957481, 24265154, 24589925, 24664307, 25073704, 25818589, 26405815, 28738256, 29045843, 29541007, 30221038, 30387922, 30546949, 30794926, 30890564, 31518489, 31581559		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	16498399		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	22613967		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29781921		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	23738911		★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular Angina	BEFREE	12079831		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	15141374		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2b	Multiple Endocrine Neoplasia	BEFREE	10023663		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11157491, 12209879, 17878398, 24101133, 30642980		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21533236, 31010726		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	31771784		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	1642237, 1975474		★☆☆☆☆ Found in Text Mining only
MUTYH-Associate Polyposis	Polyposis	BEFREE	17947820, 21533236, 27829682, 28681467, 28863177, 29746241, 30616527, 31074108		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	30718771		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	29320732		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17949234		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28716730		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10903801, 11157491, 12037682, 12185367, 19107232, 19352302, 19373855, 19603027, 21680106, 23603816, 23825589, 23918301, 24469047, 26566875, 26861459, 26943572, 27037627, 27432265, 28017134, 28935960, 29880043, 29959202, 30208271, 31309656, 31388092		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	9531608		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10508918, 10823586, 12025943, 14997017, 16120441, 30171833		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11163132, 28854169, 30233307		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	10675492, 8456947		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	20680410, 21422080		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12460918, 23454899, 23658296, 30167080, 30526545		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	27939827		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	BEFREE	17143285		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18296638, 30292331		★☆☆☆☆ Found in Text Mining only
Opitz-G syndrome, type 2	Opitz GBBB syndrome	BEFREE	11685209		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21887680, 29190507, 31509843		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31756395, 9202670		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	18055323, 20578891, 21900390		★☆☆☆☆ Found in Text Mining only
Paratuberculosis	Paratuberculosis	BEFREE	21533236, 28631071, 28863177, 30616527		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	11279280, 19074146, 30468126		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	23918833		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30278591		★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	19373855, 25524464		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15010862		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	16384930		★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	BEFREE	15987719		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	30718771		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11336792, 16114056, 25640606, 25867060, 27753136		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	27939827		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	23027623		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28215740		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	24024160		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	24024160		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	21052095, 28548125		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15457447, 20805296, 29213124		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	31063909		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19032745		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28107357		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	27907033		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19734941		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	25676724, 29329112		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	23238519, 26872611		★☆☆☆☆ Found in Text Mining only
Stage IV Skin Melanoma	Skin Melanoma	BEFREE	17518771		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30121817		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19497102		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30383542		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	19184068, 19263483, 24909306		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	14508525, 18032931, 18651802, 20714830, 21185263, 21383698, 26138515, 26208433, 26943572, 29262541, 29805692		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18032931, 18651802, 19107232, 19209125, 21185263, 21383698, 26208433, 26943572, 28771744, 29262541		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24708766, 27037627		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	14572449		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21484317, 27995407, 31524230		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	18923405		★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	12490193		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	15879465		★☆☆☆☆ Found in Text Mining only