HIC1 (HIC ZBTB transcriptional repressor 1)

Gene

• Entrez ID: 3090
• Gene name: HIC ZBTB transcriptional repressor 1
• Gene symbol: HIC1
• Synonyms (NCBI Gene): ZBTB29, ZNF901, hic-1
• Chromosome: 17
• Chromosome location: 17p13.3
• Summary: This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene resul

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017725	hsa-miR-335-5p	Microarray	18185580
MIRT487226	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT286071	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT286073	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT487224	hsa-miR-1913	PAR-CLIP	23592263
MIRT487223	hsa-miR-324-3p	PAR-CLIP	23592263
MIRT487222	hsa-miR-18a-3p	PAR-CLIP	23592263
MIRT487221	hsa-miR-4706	PAR-CLIP	23592263
MIRT487220	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT286061	hsa-miR-3175	PAR-CLIP	23592263
MIRT727501	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT727500	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT487226	hsa-miR-4781-5p	PAR-CLIP	23592263
MIRT286071	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT286073	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT487224	hsa-miR-1913	PAR-CLIP	23592263
MIRT487223	hsa-miR-324-3p	PAR-CLIP	23592263
MIRT487222	hsa-miR-18a-3p	PAR-CLIP	23592263
MIRT487221	hsa-miR-4706	PAR-CLIP	23592263
MIRT487220	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT286061	hsa-miR-3175	PAR-CLIP	23592263
MIRT1045337	hsa-miR-128	CLIP-seq
MIRT1045338	hsa-miR-1291	CLIP-seq
MIRT1045339	hsa-miR-1299	CLIP-seq
MIRT739487	hsa-miR-1539	CLIP-seq
MIRT1045340	hsa-miR-27a	CLIP-seq
MIRT1045341	hsa-miR-27b	CLIP-seq
MIRT1045342	hsa-miR-3173-5p	CLIP-seq
MIRT1045343	hsa-miR-3177-5p	CLIP-seq
MIRT1045344	hsa-miR-342-5p	CLIP-seq
MIRT1045345	hsa-miR-4292	CLIP-seq
MIRT1045346	hsa-miR-4308	CLIP-seq
MIRT1045347	hsa-miR-4506	CLIP-seq
MIRT739485	hsa-miR-4632	CLIP-seq
MIRT1045348	hsa-miR-4651	CLIP-seq
MIRT1045349	hsa-miR-4664-5p	CLIP-seq
MIRT739486	hsa-miR-4783-5p	CLIP-seq
MIRT1045350	hsa-miR-513a-5p	CLIP-seq
MIRT1045351	hsa-miR-580	CLIP-seq
MIRT1045352	hsa-miR-608	CLIP-seq
MIRT1045353	hsa-miR-7	CLIP-seq
MIRT1045354	hsa-miR-760	CLIP-seq
MIRT1045355	hsa-miR-875-3p	CLIP-seq
MIRT1045356	hsa-miR-1910	CLIP-seq
MIRT1045357	hsa-miR-19a	CLIP-seq
MIRT1045358	hsa-miR-19b	CLIP-seq
MIRT1045359	hsa-miR-23a	CLIP-seq
MIRT1045360	hsa-miR-23b	CLIP-seq
MIRT1045361	hsa-miR-23c	CLIP-seq
MIRT1045362	hsa-miR-361-5p	CLIP-seq
MIRT1045363	hsa-miR-3662	CLIP-seq
MIRT1045364	hsa-miR-3915	CLIP-seq
MIRT1045365	hsa-miR-3928	CLIP-seq
MIRT1045366	hsa-miR-4252	CLIP-seq
MIRT1045367	hsa-miR-4449	CLIP-seq
MIRT1045368	hsa-miR-455-3p	CLIP-seq
MIRT1045369	hsa-miR-4698	CLIP-seq
MIRT1045338	hsa-miR-1291	CLIP-seq
MIRT739487	hsa-miR-1539	CLIP-seq
MIRT1045342	hsa-miR-3173-5p	CLIP-seq
MIRT1045344	hsa-miR-342-5p	CLIP-seq
MIRT1045345	hsa-miR-4292	CLIP-seq
MIRT1045346	hsa-miR-4308	CLIP-seq
MIRT739485	hsa-miR-4632	CLIP-seq
MIRT1045348	hsa-miR-4651	CLIP-seq
MIRT1045349	hsa-miR-4664-5p	CLIP-seq
MIRT739486	hsa-miR-4783-5p	CLIP-seq
MIRT1045352	hsa-miR-608	CLIP-seq
MIRT2009969	hsa-miR-661	CLIP-seq
MIRT1045356	hsa-miR-1910	CLIP-seq
MIRT1045368	hsa-miR-455-3p	CLIP-seq
MIRT1045338	hsa-miR-1291	CLIP-seq
MIRT739487	hsa-miR-1539	CLIP-seq
MIRT1045342	hsa-miR-3173-5p	CLIP-seq
MIRT739485	hsa-miR-4632	CLIP-seq
MIRT1045348	hsa-miR-4651	CLIP-seq
MIRT739486	hsa-miR-4783-5p	CLIP-seq
MIRT1045352	hsa-miR-608	CLIP-seq
MIRT1045338	hsa-miR-1291	CLIP-seq
MIRT739487	hsa-miR-1539	CLIP-seq
MIRT1045342	hsa-miR-3173-5p	CLIP-seq
MIRT1045344	hsa-miR-342-5p	CLIP-seq
MIRT1045345	hsa-miR-4292	CLIP-seq
MIRT1045346	hsa-miR-4308	CLIP-seq
MIRT739485	hsa-miR-4632	CLIP-seq
MIRT1045348	hsa-miR-4651	CLIP-seq
MIRT1045349	hsa-miR-4664-5p	CLIP-seq
MIRT739486	hsa-miR-4783-5p	CLIP-seq
MIRT1045352	hsa-miR-608	CLIP-seq
MIRT2437587	hsa-miR-2278	CLIP-seq
MIRT1045364	hsa-miR-3915	CLIP-seq
MIRT1045365	hsa-miR-3928	CLIP-seq
MIRT2437588	hsa-miR-4728-5p	CLIP-seq
MIRT2437589	hsa-miR-503	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	19491197
SIRT1	Unknown	22510409

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12052894, 15231840
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	15231840
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15231840
GO:0003700	Function	DNA-binding transcription factor activity	TAS	7585125
GO:0005515	Function	Protein binding	IPI	12052894, 16724116, 16762039, 19486893
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	7585125
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IDA	16269335
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IDA	16724116
GO:0042826	Function	Histone deacetylase binding	IDA	12052894
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IEA
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	15231840
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 603825
• HGNC: 4909
• e!Ensembl: ENSG00000177374

Protein

• UniProt ID: Q14526
• Protein name: Hypermethylated in cancer 1 protein (Hic-1) (Zinc finger and BTB domain-containing protein 29)
• Protein function: Transcriptional repressor (PubMed:12052894, PubMed:15231840). Recognizes and binds to the consensus sequence '5-[CG]NG[CG]GGGCA[CA]CC-3' (PubMed:15231840). May act as a tumor suppressor (PubMed:20154726). Involved in development of head, face, l
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	37 → 153	BTB/POZ domain	Domain
  PF00096	zf-C2H2	507 → 529	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	535 → 557	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	563 → 585	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	591 → 613	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed with highest levels found in lung, colon, prostate, thymus, testis and ovary. Expression is absent or decreased in many tumor cells.
• Sequence:

  MTFPEADILLKSGECAGQTMLDTMEAPGHSRQLLLQLNNQRTKGFLCDVIIVVQNALFRA
  HKNVLAASSAYLKSLVVHDNLLNLDHDMVSPAVFRLVLDFIYTGRLADGAEAAAAAAVAP
  GAEPSLGAVLAAASYLQIPDLVALCKKRLKRHGKYCHLRGGGGGGGGYAPYGRPGRGLRA
  ATPVIQACYPSPVGPPPPPAAEPPSGPEAAVNTHCAELYASGPGPAAALCASERRCSPLC
  GLDLSKKSPPGSAAPERPLAERELPPRPDSPPSAGPAAYKEPPLALPSLPPLPFQKLEEA
  APPSDPFRGGSGSPGPEPPGRPDGPSLLYRWMKHEPGLGSYGDELGRERGSPSERCEERG
  GDAAVSPGGPPLGLAPPPRYPGSLDGPGAGGDGDDYKSSSEETGSSEDPSPPGGHLEGYP
  CPHLAYGEPESFGDNLYVCIPCGKGFPSSEQLNAHVEAHVEEEEALYGRAEAAEVAAGAA
  GLGPPFGGGGDKVAGAPGGLGELLRPYRCASCDKSYKDPATLRQHEKTHWLTRPYPCTIC
  GKKFTQRGTMTRHMRSHLGLKPFACDACGMRFTRQYRLTEHMRIHSGEKPYECQVCGGKF
  AQQRNLISHMKMHAVGGAAGAAGALAGLGGLPGVPGPDGKGKLDFPEGVFAVARLTAEQL
  SLKQQDKAAAAELLAQTTHFLHDPKVALESLYPLAKFTAELGLSPDKAAEVLSQGAHLAA
  GPDGRTIDRFSPT

• Sequence length: 733

Pathways

Reactome:

SUMOylation of transcription factors

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
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MILLER-DIEKER SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	9135007		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	18318772		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11299800, 17638871, 29367758		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19649206		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	15704048		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	15704048		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	21274674		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	15788647		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	17982487		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	12097291, 14688019, 16965951, 18347096, 18974104		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	18347096		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	CTD_human_DG	30742112		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17982487		★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	27621468, 29470501		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	12845678		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30417565		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	9135007		★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	23199169	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15251963, 20154726, 21868547, 22184117, 22194601, 24295734, 24489730, 28009350, 30204129, 31680974, 31795965, 9572497		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20154726		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11747329, 19015639, 19819984, 22184117, 22194601, 31795965	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24489730	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	19525223, 27449031	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15837543, 22544915		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19491197	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30417565		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11299800, 30312658		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37388742	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	19054549, 19755648		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12773202, 19755648		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	12097291, 14688019, 16965951, 18347096, 18974104		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	18347096		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	23533570	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15507671		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	10051471		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	21274674	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26671036		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11341745, 15068392, 15704048, 21274674		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	21274674		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21274674, 22020530, 27540971, 28708932	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22327210		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	18347096		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	16996269		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34732690	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	17982487		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	15837543		★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	18974104		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	15122586, 27637901		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26510908	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	16996269		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	16996269		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	15251963		★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	14506157		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	14506157		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	CTD_human_DG	21297660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor	Tumor	BEFREE	14506157		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	9671399		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15122586, 24992983		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	9135007		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	15507671		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	15507671	Associate	★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	15507671		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	27071708		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	15837543		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	34299935	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10360376, 21104471, 9130685		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34207065, 35995769	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	18318772	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10360376, 10446989, 18318772, 28187034, 9135007		★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10051471, 17549390, 19491197, 21600201		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	10051471		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26510908	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	12539045		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	9135007		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	9135007		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11747329, 15251963, 19015639, 20154726, 21868547, 22184117, 22194601, 24295734, 24489730, 24747176, 28009350, 30204129, 31680974, 31795965, 9572497		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20154726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	21297660		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	CTD_human_DG	21297660		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31108460		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11299800, 30312658		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	15488761, 17177027		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22552606, 27085461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12845678, 17638871, 23340301, 28466555		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21533545, 23769968		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30417565		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10051471, 12097291, 12539045, 14656076, 15488761, 15519529, 15837543, 16269335, 19015639, 20154726, 20676143, 21104471, 22109647, 23566242, 23769968, 24295734, 24489730, 27085461, 27793057, 28538185, 30417565, 31513912, 7585125, 9269998, 9354457, 9572497		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	19755648		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21297660, 26671036		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20154726		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20154726		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20154726		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	12097291, 14506157, 14656076, 14688019, 15122586, 16398460, 16965951, 18347096, 18974104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	LHGDN	14656076		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	CTD_human_DG	18347096		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	18347096		★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	18347096		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	ORPHANET_DG	10072440, 10655551		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	10655551		★☆☆☆☆ Found in Text Mining only
Miller-Dieker syndrome	Miller Dieker Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	19548309		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16343268		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	9135007		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	9269998		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10360376, 10655551, 11087658, 11299800, 12097291, 12429618, 12539045, 14506157, 14656076, 14688019, 15122586, 15368319, 15488761, 15837543, 16269335, 17982487, 18318772, 18347096, 18723112, 18974104, 19015639, 19491197, 19525223, 19755648, 19819984, 20154726, 20546602, 21104471, 21533545, 22016618, 22109647, 22136354, 22184117, 22194601, 22327210, 22544915, 22552606, 23417673, 23566242, 23769968, 24295734, 24489730, 24747176, 24907396, 24992983, 25934696, 26510908, 26671036, 27085461, 27107418, 27449031, 27793057, 27935866, 28538185, 29367758, 30202238, 30204129, 30417565, 31108460, 31795965, 7585125, 8564979, 9130685, 9135007, 9374372, 9572497, 9671399		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14506157, 20546602		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20546602	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11299800, 27107418		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15488761, 19525223		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	15488761		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	19525223	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11238060, 18757082	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22552606, 27085461		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	22552606		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27793057		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	27071708		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	22544915		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	15788647		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12845678, 17638871, 23340301, 28466555		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	12845678		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22327210		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	14506157		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	14506157		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	27621468		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	12539045		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37388742	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28708932		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11299800, 11448914, 19836067		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26510908		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	19649206		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20729134		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	23769968		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21533545	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27793057	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	27793057		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27793057	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24295734		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25068292	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	21274674		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22140553	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	12773202	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12773202	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	27449031		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	27449031	Inhibit	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	35436013	Associate	★☆☆☆☆ Found in Text Mining only