TUSC3 (tumor suppressor candidate 3)

Gene

• Entrez ID: 7991
• Gene name: Tumor suppressor candidate 3
• Gene symbol: TUSC3
• Synonyms (NCBI Gene): D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A, SLC58A2
• Chromosome: 8
• Chromosome location: 8p22
• Summary: This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200667343	C>A,G	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs387906804	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1554461593	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585215916	->C	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022014	hsa-miR-128-3p	Sequencing	20371350
MIRT029507	hsa-miR-26b-5p	Microarray	19088304
MIRT050240	hsa-miR-25-3p	CLASH	23622248
MIRT036380	hsa-miR-1229-3p	CLASH	23622248
MIRT731403	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	28288641
MIRT731403	hsa-miR-181a-5p	Luciferase reporter assay, Western blot	28288641
MIRT731404	hsa-miR-30e-5p	Luciferase reporter assay, Western blot	28288641
MIRT731404	hsa-miR-30e-5p	Luciferase reporter assay, Western blot	28288641
MIRT736041	hsa-miR-873-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32655319
MIRT755797	hsa-miR-320d	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR	34733314
MIRT1464229	hsa-miR-132	CLIP-seq
MIRT1464230	hsa-miR-136	CLIP-seq
MIRT1464231	hsa-miR-150	CLIP-seq
MIRT1464232	hsa-miR-181a	CLIP-seq
MIRT1464233	hsa-miR-181b	CLIP-seq
MIRT1464234	hsa-miR-181c	CLIP-seq
MIRT1464235	hsa-miR-181d	CLIP-seq
MIRT1464236	hsa-miR-1914	CLIP-seq
MIRT1464237	hsa-miR-194	CLIP-seq
MIRT1464238	hsa-miR-203	CLIP-seq
MIRT1464239	hsa-miR-212	CLIP-seq
MIRT1464240	hsa-miR-30a	CLIP-seq
MIRT1464241	hsa-miR-30b	CLIP-seq
MIRT1464242	hsa-miR-30c	CLIP-seq
MIRT1464243	hsa-miR-30d	CLIP-seq
MIRT1464244	hsa-miR-30e	CLIP-seq
MIRT1464245	hsa-miR-3123	CLIP-seq
MIRT1464246	hsa-miR-3607-3p	CLIP-seq
MIRT1464247	hsa-miR-3646	CLIP-seq
MIRT1464248	hsa-miR-3686	CLIP-seq
MIRT1464249	hsa-miR-3688-5p	CLIP-seq
MIRT1464250	hsa-miR-3925-5p	CLIP-seq
MIRT1464251	hsa-miR-3976	CLIP-seq
MIRT1464252	hsa-miR-4262	CLIP-seq
MIRT1464253	hsa-miR-4422	CLIP-seq
MIRT1464254	hsa-miR-4427	CLIP-seq
MIRT1464255	hsa-miR-4496	CLIP-seq
MIRT1464256	hsa-miR-4652-3p	CLIP-seq
MIRT1464257	hsa-miR-4699-3p	CLIP-seq
MIRT1464258	hsa-miR-4729	CLIP-seq
MIRT1464259	hsa-miR-4766-5p	CLIP-seq
MIRT1464260	hsa-miR-4786-3p	CLIP-seq
MIRT1464261	hsa-miR-4796-5p	CLIP-seq
MIRT1464262	hsa-miR-513a-3p	CLIP-seq
MIRT1464263	hsa-miR-515-5p	CLIP-seq
MIRT1464264	hsa-miR-543	CLIP-seq
MIRT1464265	hsa-miR-570	CLIP-seq
MIRT1464266	hsa-miR-603	CLIP-seq
MIRT1464267	hsa-miR-616	CLIP-seq
MIRT1464268	hsa-miR-873	CLIP-seq
MIRT1464240	hsa-miR-30a	CLIP-seq
MIRT1464241	hsa-miR-30b	CLIP-seq
MIRT1464242	hsa-miR-30c	CLIP-seq
MIRT1464243	hsa-miR-30d	CLIP-seq
MIRT1464244	hsa-miR-30e	CLIP-seq
MIRT2139641	hsa-miR-3121-5p	CLIP-seq
MIRT2139642	hsa-miR-3145-3p	CLIP-seq
MIRT2139643	hsa-miR-340	CLIP-seq
MIRT2139644	hsa-miR-3674	CLIP-seq
MIRT2139645	hsa-miR-3935	CLIP-seq
MIRT2139646	hsa-miR-410	CLIP-seq
MIRT1464254	hsa-miR-4427	CLIP-seq
MIRT2139647	hsa-miR-4438	CLIP-seq
MIRT2139648	hsa-miR-4452	CLIP-seq
MIRT2139649	hsa-miR-4698	CLIP-seq
MIRT2139650	hsa-miR-590-3p	CLIP-seq
MIRT2360227	hsa-miR-3143	CLIP-seq
MIRT2360228	hsa-miR-338-5p	CLIP-seq
MIRT2139649	hsa-miR-4698	CLIP-seq
MIRT2360229	hsa-miR-4803	CLIP-seq
MIRT2360230	hsa-miR-548p	CLIP-seq
MIRT2653567	hsa-miR-188-5p	CLIP-seq
MIRT2360228	hsa-miR-338-5p	CLIP-seq
MIRT2653568	hsa-miR-339-5p	CLIP-seq
MIRT2653569	hsa-miR-4738-3p	CLIP-seq
MIRT2653570	hsa-miR-4775	CLIP-seq
MIRT2653571	hsa-miR-486-5p	CLIP-seq
MIRT1464264	hsa-miR-543	CLIP-seq
MIRT2653572	hsa-miR-586	CLIP-seq
MIRT2139650	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005739	Component	Mitochondrion	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	NAS	19717468
GO:0005886	Component	Plasma membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	NAS	18455129
GO:0008250	Component	Oligosaccharyltransferase complex	IBA
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	15835887
GO:0008250	Component	Oligosaccharyltransferase complex	IEA
GO:0015095	Function	Magnesium ion transmembrane transporter activity	IEA
GO:0015095	Function	Magnesium ion transmembrane transporter activity	TAS
GO:0015693	Process	Magnesium ion transport	IGI	19717468
GO:0015693	Process	Magnesium ion transport	IGI	19717468
GO:0015693	Process	Magnesium ion transport	IMP	19717468
GO:0016020	Component	Membrane	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	26864433
GO:0018279	Process	Protein N-linked glycosylation via asparagine	ISS
GO:0050890	Process	Cognition	IMP	18455129
GO:0055085	Process	Transmembrane transport	TAS
GO:1903830	Process	Magnesium ion transmembrane transport	IBA

Other IDs

• MIM: 601385
• HGNC: 30242
• e!Ensembl: ENSG00000104723

Protein

• UniProt ID: Q13454
• Protein name: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 (Oligosaccharyl transferase subunit TUSC3) (Magnesium uptake/transporter TUSC3) (Protein N33) (Tumor suppressor candidate 3)
• Protein function: Acts as accessory component of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus mot
• PDB: 4M8G, 4M90, 4M91, 4M92
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04756	OST3_OST6	54 → 342	OST3 / OST6 family, transporter family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas. {ECO:0000269|PubMed:12887896}.
• Sequence:

  MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWS
  SRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSS
  AFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAK
  WIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF
  AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAESHIILVLNAAITMGMVLLNE
  AATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSDLDFE

• Sequence length: 348

Pathways

KEGG:

N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Protein processing in endoplasmic reticulum

Reactome:

Asparagine N-linked glycosylation
Miscellaneous transport and binding events

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
Abnormality of the nervous system	Likely pathogenic	rs387906804	RCV001814010	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs200667343, rs773936260	RCV001171632 RCV001291202	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 24	Likely pathogenic; Pathogenic	rs200667343	RCV003388826	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal recessive 7	Likely pathogenic; Pathogenic	rs200667343, rs1251881194, rs2129179995, rs2486376936, rs1585215916, rs2129132478, rs387906804, rs1554486894, rs1554461593, rs773426468	RCV001039775 RCV001783995 RCV001808292 RCV002291467 RCV000008662 RCV003326688 RCV000023095 RCV001283843 RCV000585790 RCV001250412	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 24	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARAPLEGIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUSC3-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	27041583, 28288641		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25809865	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36274132	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29790668, 30504895		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	35137520	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23096450, 23404293, 25735931		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	34580524	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	19812376		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	20505342	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31039290		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29156678, 30115537, 30485502		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15526363	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	21614585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31186719		★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27148795	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	27994502, 29556302		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	27994502, 29556302		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	27994502	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	22312193	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27177902, 28303930, 28901390, 9671399		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27177902	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28303930, 28901390, 37894860	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27177902, 28303930, 28901390, 9671399		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27177902	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29556302		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27148795		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28487226		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18452889, 21513506, 21739581, 23825019, 25966277, 27148795, 29556302, 31606977		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	LHGDN	18455129		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	21513506, 25966277, 27148795, 30500859	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	17641416	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29503566		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17641416	Inhibit	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29559929		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27041583, 28288641		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	27994502, 29556302		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29790668, 30504895		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23096450, 23404293, 25735931		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26871953, 28929175		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24435307		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22447362, 24353162, 27177902, 27994502, 28272772, 28901390, 28929175, 29503566, 29556302, 30098333, 30504895		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31039290		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18452889, 21739581, 25966277, 29556302		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7	Mental retardation	GENOMICS_ENGLAND_DG	21739581, 27148795, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	9892107		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10362129, 23096450, 23404293, 24435307, 25735931, 26871953, 27041583, 27177902, 27994502, 28272772, 28487226, 28901390, 28929175, 29556302, 31582837		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28487226, 28881786, 30098333, 30504895		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21837709		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16270321		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23096450, 23404293, 25735931		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16270321	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26871953		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16036106, 32894098	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	18455129	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24435307		★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	27846195		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	31606977		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17641416		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29556302		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27994502		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11752453	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	20505342		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	29559929		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35137520	Inhibit	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	15526363		★☆☆☆☆ Found in Text Mining only