AXIN1 (axin 1)

Gene

• Entrez ID: 8312
• Gene name: Axin 1
• Gene symbol: AXIN1
• Synonyms (NCBI Gene): AXIN, CMDOH, PPP1R49
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 bet

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776627	GGGAATGTGAGGTAGGGGCACCCGCCCATTGA>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018487	hsa-miR-335-5p	Microarray	18185580
MIRT049195	hsa-miR-92a-3p	CLASH	23622248
MIRT044503	hsa-miR-320a	CLASH	23622248
MIRT041736	hsa-miR-484	CLASH	23622248
MIRT039102	hsa-miR-769-3p	CLASH	23622248
MIRT036160	hsa-miR-320c	CLASH	23622248
MIRT441132	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441132	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT812373	hsa-miR-3613-3p	CLIP-seq
MIRT812374	hsa-miR-3691-3p	CLIP-seq
MIRT812375	hsa-miR-4251	CLIP-seq
MIRT812376	hsa-miR-4293	CLIP-seq
MIRT812377	hsa-miR-4324	CLIP-seq
MIRT812378	hsa-miR-4328	CLIP-seq
MIRT812379	hsa-miR-4528	CLIP-seq
MIRT812380	hsa-miR-4699-3p	CLIP-seq
MIRT812381	hsa-miR-4795-3p	CLIP-seq
MIRT812382	hsa-miR-539	CLIP-seq
MIRT812383	hsa-miR-596	CLIP-seq
MIRT812384	hsa-miR-602	CLIP-seq
MIRT812385	hsa-miR-657	CLIP-seq
MIRT1940251	hsa-miR-31	CLIP-seq
MIRT1940252	hsa-miR-4742-5p	CLIP-seq
MIRT1940253	hsa-miR-653	CLIP-seq
MIRT812377	hsa-miR-4324	CLIP-seq
MIRT1940254	hsa-miR-4736	CLIP-seq
MIRT2179166	hsa-miR-1200	CLIP-seq
MIRT2179167	hsa-miR-1321	CLIP-seq
MIRT2179168	hsa-miR-1911	CLIP-seq
MIRT2179169	hsa-miR-2355-5p	CLIP-seq
MIRT2179170	hsa-miR-3689d	CLIP-seq
MIRT812374	hsa-miR-3691-3p	CLIP-seq
MIRT2179171	hsa-miR-3944-3p	CLIP-seq
MIRT812377	hsa-miR-4324	CLIP-seq
MIRT1940254	hsa-miR-4736	CLIP-seq
MIRT2179172	hsa-miR-4739	CLIP-seq
MIRT2179173	hsa-miR-4756-5p	CLIP-seq
MIRT2179174	hsa-miR-544b	CLIP-seq
MIRT2444523	hsa-miR-1205	CLIP-seq
MIRT2444524	hsa-miR-1291	CLIP-seq
MIRT2444525	hsa-miR-3173-5p	CLIP-seq
MIRT2444526	hsa-miR-4650-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002039	Function	P53 binding	IEA
GO:0005515	Function	Protein binding	IPI	9601641, 10481074, 10644691, 10811618, 11738041, 12192039, 16169070, 16293619, 16601693, 17318175, 17318191, 17510365, 17588722, 17601533, 18786926, 19131971, 19166851, 19202075, 19249679, 19303846, 19390532, 19759537, 20080667, 21057547, 21087614, 21242974, 21245303, 21988832, 2215
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12072559, 21383061
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	12072559, 17569865, 21383061
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0006913	Process	Nucleocytoplasmic transport	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IDA	10644691
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	IPI	21087614
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016328	Component	Lateral plasma membrane	IDA	12072559
GO:0019899	Function	Enzyme binding	IPI	19759537, 21383061, 21478859
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	ISS
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030877	Component	Beta-catenin destruction complex	IBA
GO:0030877	Component	Beta-catenin destruction complex	IDA	9601641, 16188939, 18593713, 19759537
GO:0030877	Component	Beta-catenin destruction complex	IEA
GO:0030877	Component	Beta-catenin destruction complex	NAS	9601641
GO:0031122	Process	Cytoplasmic microtubule organization	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IMP	16601693
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16601693, 21478859
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IEA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0035591	Function	Signaling adaptor activity	TAS	21799911
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IBA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	10811618, 16169070, 21245303
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	9601641
GO:0043539	Function	Protein serine/threonine kinase activator activity	IDA	9601641
GO:0044725	Process	Epigenetic programming in the zygotic pronuclei	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	IC	16188939
GO:0045732	Process	Positive regulation of protein catabolic process	IDA	9601641
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046330	Process	Positive regulation of JNK cascade	ISS
GO:0046332	Function	SMAD binding	IPI	18593713
GO:0048318	Process	Axial mesoderm development	IEA
GO:0048320	Process	Axial mesoderm formation	IEA
GO:0048468	Process	Cell development	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	19038973
GO:0051248	Process	Negative regulation of protein metabolic process	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IDA	9601641, 21087614
GO:0060322	Process	Head development	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	16601693
GO:0070016	Function	Armadillo repeat domain binding	ISS
GO:0070411	Function	I-SMAD binding	IBA
GO:0070411	Function	I-SMAD binding	IEA
GO:0070411	Function	I-SMAD binding	IPI	16601693, 18593713
GO:0070412	Function	R-SMAD binding	IEA
GO:0071944	Component	Cell periphery	IDA	19038973
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IC	9601641
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	10644691
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	22899650
GO:0120283	Function	Protein serine/threonine kinase binding	IPI	18593713
GO:1904885	Process	Beta-catenin destruction complex assembly	IDA	18593713
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IMP	16601693
GO:1990909	Component	Wnt signalosome	IEA
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	ISS

Other IDs

• MIM: 603816
• HGNC: 903
• e!Ensembl: ENSG00000103126

Protein

• UniProt ID: O15169
• Protein name: Axin-1 (Axis inhibition protein 1) (hAxin)
• Protein function: Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453, PubMed:28829046). Controls dorsoventral patternin
• PDB: 1DK8, 1EMU, 1O9U, 3ZDI, 4B7T, 4NM0, 4NM3, 4NM5, 4NM7, 4NU1, 5WZZ, 6JCK, 7SXF, 7SXG, 7SXH, 7SXJ, 7Y1P, 8RU3, 8RU4, 8VMG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16646	AXIN1_TNKS_BD	8 → 80	Axin-1 tankyrase binding domain	Disordered
  PF00615	RGS	88 → 210	Regulator of G protein signaling domain	Domain
  PF08833	Axin_b-cat_bind	465 → 498	Axin beta-catenin binding motif	Motif
  PF00778	DIX	781 → 860	DIX domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed.
• Sequence:

  MNIQEQGFPLDLGASFTEDAPRPPVPGEEGELVSTDPRPASYSFCSGKGVGIKGETSTAT
  PRRSDLDLGYEPEGSASPTPPYLKWAESLHSLLDDQDGISLFRTFLKQEGCADLLDFWFA
  CTGFRKLEPCDSNEEKRLKLARAIYRKYILDNNGIVSRQTKPATKSFIKGCIMKQLIDPA
  MFDQAQTEIQATMEENTYPSFLKSDIYLEYTRTGSESPKVCSDQSSGSGTGKGISGYLPT
  LNEDEEWKCDQDMDEDDGRDAAPPGRLPQKLLLETAAPRVSSSRRYSEGREFRYGSWREP
  VNPYYVNAGYALAPATSANDSEQQSLSSDADTLSLTDSSVDGIPPYRIRKQHRREMQESV
  QVNGRVPLPHIPRTYRVPKEVRVEPQKFAEELIHRLEAVQRTREAEEKLEERLKRVRMEE
  EGEDGDPSSGPPGPCHKLPPAPAWHHFPPRCVDMGCAGLRDAHEENPESILDEHVQRVLR
  TPGRQSPGPGHRSPDSGHVAKMPVALGGAASGHGKHVPKSGAKLDAAGLHHHRHVHHHVH
  HSTARPKEQVEAEATRRAQSSFAWGLEPHSHGARSRGYSESVGAAPNASDGLAHSGKVGV
  ACKRNAKKAESGKSASTEVPGASEDAEKNQKIMQWIIEGEKEISRHRRTGHGSSGTRKPQ
  PHENSRPLSLEHPWAGPQLRTSVQPSHLFIQDPTMPPHPAPNPLTQLEEARRRLEEEEKR
  ASRAPSKQRYVQEVMRRGRACVRPACAPVLHVVPAVSDMELSETETRSQRKVGGGSAQPC
  DSIVVAYYFCGEPIPYRTLVRGRAVTLGQFKELLTKKGSYRYYFKKVSDEFDCGVVFEEV
  REDEAVLPVFEEKIIGKVEKVD

• Sequence length: 862

Pathways

KEGG:

Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Colorectal cancer
Endometrial cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer

Reactome:

Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
TCF dependent signaling in response to WNT
Degradation of AXIN
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
Ub-specific processing proteases
RUNX1 regulates estrogen receptor mediated transcription
RUNX1 regulates transcription of genes involved in WNT signaling
Estrogen-dependent gene expression

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
Craniometadiaphyseal osteosclerosis with hip dysplasia	Pathogenic	rs2548491182, rs370661416	RCV003388225 RCV003388227	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs587776627	RCV000006408	★★★★☆ 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
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AXIN1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Caudal duplication	Benign; Likely benign	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CAUDAL DUPLICATION ANOMALY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL ADENOMA	—	GenCC	★★☆☆☆ 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
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METASTATIC COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ 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
Adenocarcinoma	Adenocarcinoma	BEFREE	14970870		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	14970870		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	BEFREE	29496310		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	LHGDN	12036951		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15650354, 15735746, 16142313, 17297461, 17510365, 19035286, 25735981, 27558955, 28075444, 28770488, 30072583, 30554113, 31337618, 31723073		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	23812285		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	ORPHANET_DG	10700176		★☆☆☆☆ Found in Text Mining only
Adult hepatocellular carcinoma	Liver carcinoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	23879168		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	11585731		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23812285		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39929297	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ameloblastoma	Ameloblastoma	BEFREE	18284543		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27324898		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	15650354		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23812285		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37802634	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	40595623	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	25355064		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	27089054		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	20098615		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	20098615	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31143301		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	19633924, 27630299		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21808024, 23278310, 26916619, 28055379		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28055379	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10575011, 12771989, 25502816, 35780128	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11526492, 12883680, 16772034		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	15195113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22524844, 25021421, 25159915, 25822088, 27851986, 31173963, 31514071, 33407585, 33811251, 36517508, 38359148	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of endometrium	Endometrial carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31143301		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17768662, 23192643, 23915259, 30297789		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	30929455	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	31366320	Associate	★☆☆☆☆ Found in Text Mining only
Caudal Duplication Anomaly	Caudal Duplication Anomaly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Caudal Duplication Anomaly	Caudal Duplication Anomaly	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	12883680		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12883680		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	23879168		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	11585731		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37832404	Inhibit	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18171349, 24798001		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28770488		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	14566817, 17297461, 18488710, 21541676, 26894286, 30072583, 31723073		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10318916, 23661344, 25222838, 26820603, 26894286, 27462886, 28100566, 28731177, 28865443, 29505855, 31723073, 32958699, 36129915, 9734785	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17143297		★☆☆☆☆ Found in Text Mining only
Congenital duplication of uterus	Congenital Duplication Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29053018		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	25802106		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30070692		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27425647		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27425647		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35504843	Associate	★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double outlet right ventricle	Pubtator	34204335	Associate	★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinesias	Dyskinesia	Pubtator	34564680	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	21416598	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12439748		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30621017		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	17309796		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	17309796		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	12771989	Associate	★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	14970870	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	28693262		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25735981, 27959385		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25735981, 27959385		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33096676	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	12101426		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27601169		★☆☆☆☆ Found in Text Mining only
Intracranial Meningioma	Intracranial Meningioma	BEFREE	27630299		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	11891531		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	12963979		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10700176, 11526492, 12101426, 15698401, 16964294, 18171349, 18592156, 23879168, 24379610, 26034368, 26968103, 27851986, 28754688, 29525529, 30737831, 31189995, 31514071		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	UNIPROT_DG	12101426		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	25822088		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18171349, 24798001		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10936068, 29525529		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17768662		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23192643	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32051824	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	12771989	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23192643, 31723073	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21808024, 26916619, 28055379		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	17309796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	25236910		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23879168, 29525529		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17768662, 23192643, 23915259, 30297789		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	12963979		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18514389		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17297461, 18330950		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31143301		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17897439, 27425647, 28693262, 30237512		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	12883680		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28770488		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11585731, 12555076, 15488029		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	12209999		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	33978203	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22234612, 22895053		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22234612, 22895053, 23869245, 35561126	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	27630299		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	17214850		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	27425647		★☆☆☆☆ Found in Text Mining only
Micronodular cirrhosis	Micronodular cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11585731, 11719457, 11891531, 12439747, 14534723, 14970870, 15735746, 16964294, 17143481, 17309796, 19035286, 19633924, 21769465, 22207181, 23539443, 23915259, 24842792, 26894286, 26968103, 27630299, 28055379, 28693262, 29525529, 31189995, 31723073		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30237512, 31143301		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26916619, 28055379		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	37380960	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	19888226	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30844369		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30368889		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30537735		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	38272954	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18514389		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	40595623	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24842792		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12771989		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16163548, 17143481		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17309796		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21393552, 34564680	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17297461, 18330950		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	18330950	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18330950, 37973999	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	36510340	Associate	★☆☆☆☆ Found in Text Mining only
Tonsillitis	Tonsillitis	Pubtator	40595623	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29715580		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31143301	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31143301	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27577083	Associate	★☆☆☆☆ Found in Text Mining only