AXIN2 (axin 2)

Gene

• Entrez ID: 8313
• Gene name: Axin 2
• Gene symbol: AXIN2
• Synonyms (NCBI Gene): AXIL, ODCRCS
• Chromosome: 17
• Chromosome location: 17q24.1
• Summary: The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908567	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs121908568	G>A	Pathogenic	Coding sequence variant, stop gained
rs138287857	G>A	Likely-pathogenic, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs139316692	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, synonymous variant
rs139871607	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs140344858	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs140510381	C>A,T	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, missense variant
rs141655687	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs142476324	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs142670753	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs143571197	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145007501	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, missense variant
rs145717795	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs148765149	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149764887	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs200201811	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs201531372	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs267606674	C>-,CC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs367624903	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs376052287	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs570443161	GGTGGTGGT>-,GGTGGT,GGTGGTGGTGGT,GGTGGTGGTGGTGGT	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, inframe insertion, inframe deletion
rs730882193	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs748632114	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs752881223	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs762279806	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs771001164	CTCT>-,CT	Pathogenic	Frameshift variant, coding sequence variant
rs772461187	G>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs773157765	C>T	Likely-pathogenic	Splice acceptor variant
rs775783026	T>C	Likely-pathogenic	Splice acceptor variant
rs978837790	T>C	Likely-pathogenic	Splice acceptor variant
rs1056103847	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1299440644	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1309148182	C>T	Likely-pathogenic	Splice acceptor variant, intron variant
rs1555577613	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555577625	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555583659	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567754914	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567755946	->CGCGGGAGGCAGC	Pathogenic	Frameshift variant, coding sequence variant
rs1567769335	C>T	Pathogenic	Stop gained, coding sequence variant
rs1598093952	AAGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598097196	G>A	Pathogenic	Coding sequence variant, stop gained
rs1598104209	G>A	Pathogenic	Coding sequence variant, stop gained
rs1598118962	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598119841	G>A	Pathogenic	Coding sequence variant, stop gained
rs1598119889	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001232	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001232	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001232	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT001232	hsa-miR-34a-5p	Luciferase reporter assay	19336450
MIRT006750	hsa-miR-15b-5p	Luciferase reporter assay	21501592
MIRT006750	hsa-miR-15b-5p	Luciferase reporter assay	21501592
MIRT006750	hsa-miR-15b-5p	Luciferase reporter assay	21501592
MIRT006751	hsa-miR-16-5p	Luciferase reporter assay	21501592
MIRT006751	hsa-miR-16-5p	Luciferase reporter assay	21501592
MIRT006751	hsa-miR-16-5p	Luciferase reporter assay	21501592
MIRT006752	hsa-miR-107	Luciferase reporter assay	21501592
MIRT006752	hsa-miR-107	Luciferase reporter assay	21501592
MIRT006752	hsa-miR-107	Luciferase reporter assay	21501592
MIRT027137	hsa-miR-103a-3p	Sequencing	20371350
MIRT006751	hsa-miR-16-5p	Sequencing	20371350
MIRT054054	hsa-miR-34a-3p	Luciferase reporter assay, Western blot	22421157
MIRT054054	hsa-miR-34a-3p	Luciferase reporter assay, Western blot	22421157
MIRT054055	hsa-miR-34b-5p	Luciferase reporter assay, Western blot	22421157
MIRT054055	hsa-miR-34b-5p	Luciferase reporter assay, Western blot	22421157
MIRT054056	hsa-miR-34c-3p	Luciferase reporter assay, Western blot	22421157
MIRT054056	hsa-miR-34c-3p	Luciferase reporter assay, Western blot	22421157
MIRT006752	hsa-miR-107	HITS-CLIP	21572407
MIRT027137	hsa-miR-103a-3p	HITS-CLIP	21572407
MIRT508036	hsa-miR-424-5p	HITS-CLIP	21572407
MIRT508041	hsa-miR-15a-5p	HITS-CLIP	21572407
MIRT006750	hsa-miR-15b-5p	HITS-CLIP	21572407
MIRT006751	hsa-miR-16-5p	HITS-CLIP	21572407
MIRT508038	hsa-miR-195-5p	HITS-CLIP	21572407
MIRT508039	hsa-miR-497-5p	HITS-CLIP	21572407
MIRT508040	hsa-miR-6838-5p	HITS-CLIP	21572407
MIRT508037	hsa-miR-2278	HITS-CLIP	21572407
MIRT508035	hsa-miR-4496	HITS-CLIP	21572407
MIRT508034	hsa-miR-6501-3p	HITS-CLIP	21572407
MIRT508033	hsa-miR-3148	HITS-CLIP	21572407
MIRT508032	hsa-miR-4668-5p	HITS-CLIP	21572407
MIRT006752	hsa-miR-107	PAR-CLIP	20371350
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT508036	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT006751	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT508038	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT508039	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT508037	hsa-miR-2278	PAR-CLIP	20371350
MIRT508035	hsa-miR-4496	PAR-CLIP	20371350
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT508033	hsa-miR-3148	PAR-CLIP	20371350
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT006752	hsa-miR-107	PAR-CLIP	20371350
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT508036	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT006751	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT508038	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT508039	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT508037	hsa-miR-2278	PAR-CLIP	20371350
MIRT508035	hsa-miR-4496	PAR-CLIP	20371350
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT508033	hsa-miR-3148	PAR-CLIP	20371350
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT006752	hsa-miR-107	PAR-CLIP	20371350
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT508036	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT006751	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT508038	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT508039	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT508037	hsa-miR-2278	PAR-CLIP	20371350
MIRT508035	hsa-miR-4496	PAR-CLIP	20371350
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT508033	hsa-miR-3148	PAR-CLIP	20371350
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT006752	hsa-miR-107	PAR-CLIP	20371350
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT508036	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT006751	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT508038	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT508039	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT508037	hsa-miR-2278	PAR-CLIP	20371350
MIRT508035	hsa-miR-4496	PAR-CLIP	20371350
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT508033	hsa-miR-3148	PAR-CLIP	20371350
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT006752	hsa-miR-107	PAR-CLIP	21572407
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT508039	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT006751	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT508038	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT508036	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT549236	hsa-miR-3617-5p	PAR-CLIP	21572407
MIRT549235	hsa-miR-641	PAR-CLIP	21572407
MIRT508037	hsa-miR-2278	PAR-CLIP	21572407
MIRT508035	hsa-miR-4496	PAR-CLIP	21572407
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT508033	hsa-miR-3148	PAR-CLIP	21572407
MIRT549234	hsa-miR-208a-3p	PAR-CLIP	21572407
MIRT549233	hsa-miR-208b-3p	PAR-CLIP	21572407
MIRT549232	hsa-miR-499a-5p	PAR-CLIP	21572407
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT006752	hsa-miR-107	PAR-CLIP	21572407
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT508036	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT006751	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT508038	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT508039	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT549236	hsa-miR-3617-5p	PAR-CLIP	21572407
MIRT549235	hsa-miR-641	PAR-CLIP	21572407
MIRT508037	hsa-miR-2278	PAR-CLIP	21572407
MIRT508035	hsa-miR-4496	PAR-CLIP	21572407
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT508033	hsa-miR-3148	PAR-CLIP	21572407
MIRT549234	hsa-miR-208a-3p	PAR-CLIP	21572407
MIRT549233	hsa-miR-208b-3p	PAR-CLIP	21572407
MIRT549232	hsa-miR-499a-5p	PAR-CLIP	21572407
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT006752	hsa-miR-107	PAR-CLIP	23446348
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT508036	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT006751	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508038	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508039	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508037	hsa-miR-2278	PAR-CLIP	23446348
MIRT508035	hsa-miR-4496	PAR-CLIP	23446348
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	23446348
MIRT508033	hsa-miR-3148	PAR-CLIP	23446348
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT006752	hsa-miR-107	PAR-CLIP	23446348
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508039	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT006751	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT508038	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508036	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508037	hsa-miR-2278	PAR-CLIP	23446348
MIRT508035	hsa-miR-4496	PAR-CLIP	23446348
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	23446348
MIRT508033	hsa-miR-3148	PAR-CLIP	23446348
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT732825	hsa-miR-1246	Immunofluorescence, Luciferase reporter assay, qRT-PCR	27639189
MIRT006751	hsa-miR-16-5p	Luciferase reporter assay, qRT-PCR, Western blotting	33920233
MIRT735180	hsa-miR-206	Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	32722078
MIRT027137	hsa-miR-103a-3p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, Flow cytometry	31650542
MIRT006752	hsa-miR-107	HITS-CLIP	21572407
MIRT027137	hsa-miR-103a-3p	HITS-CLIP	21572407
MIRT508036	hsa-miR-424-5p	HITS-CLIP	21572407
MIRT508041	hsa-miR-15a-5p	HITS-CLIP	21572407
MIRT006750	hsa-miR-15b-5p	HITS-CLIP	21572407
MIRT006751	hsa-miR-16-5p	HITS-CLIP	21572407
MIRT508038	hsa-miR-195-5p	HITS-CLIP	21572407
MIRT508039	hsa-miR-497-5p	HITS-CLIP	21572407
MIRT508040	hsa-miR-6838-5p	HITS-CLIP	21572407
MIRT508037	hsa-miR-2278	HITS-CLIP	21572407
MIRT508035	hsa-miR-4496	HITS-CLIP	21572407
MIRT508034	hsa-miR-6501-3p	HITS-CLIP	21572407
MIRT508033	hsa-miR-3148	HITS-CLIP	21572407
MIRT508032	hsa-miR-4668-5p	HITS-CLIP	21572407
MIRT006752	hsa-miR-107	PAR-CLIP	20371350
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT508036	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT006751	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT508038	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT508039	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT508037	hsa-miR-2278	PAR-CLIP	20371350
MIRT508035	hsa-miR-4496	PAR-CLIP	20371350
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT508033	hsa-miR-3148	PAR-CLIP	20371350
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT006752	hsa-miR-107	PAR-CLIP	20371350
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT508036	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT006751	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT508038	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT508039	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT508037	hsa-miR-2278	PAR-CLIP	20371350
MIRT508035	hsa-miR-4496	PAR-CLIP	20371350
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT508033	hsa-miR-3148	PAR-CLIP	20371350
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT006752	hsa-miR-107	PAR-CLIP	20371350
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT508036	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT006751	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT508038	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT508039	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT508037	hsa-miR-2278	PAR-CLIP	20371350
MIRT508035	hsa-miR-4496	PAR-CLIP	20371350
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT508033	hsa-miR-3148	PAR-CLIP	20371350
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT006752	hsa-miR-107	PAR-CLIP	20371350
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT508036	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT006751	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT508038	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT508039	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT508037	hsa-miR-2278	PAR-CLIP	20371350
MIRT508035	hsa-miR-4496	PAR-CLIP	20371350
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	20371350
MIRT508033	hsa-miR-3148	PAR-CLIP	20371350
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT006752	hsa-miR-107	PAR-CLIP	21572407
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT508039	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT006751	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT508038	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT508036	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT549236	hsa-miR-3617-5p	PAR-CLIP	21572407
MIRT549235	hsa-miR-641	PAR-CLIP	21572407
MIRT508037	hsa-miR-2278	PAR-CLIP	21572407
MIRT508035	hsa-miR-4496	PAR-CLIP	21572407
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT508033	hsa-miR-3148	PAR-CLIP	21572407
MIRT549234	hsa-miR-208a-3p	PAR-CLIP	21572407
MIRT549233	hsa-miR-208b-3p	PAR-CLIP	21572407
MIRT549232	hsa-miR-499a-5p	PAR-CLIP	21572407
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT006752	hsa-miR-107	PAR-CLIP	21572407
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT508036	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT006751	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT508038	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT508039	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT549236	hsa-miR-3617-5p	PAR-CLIP	21572407
MIRT549235	hsa-miR-641	PAR-CLIP	21572407
MIRT508037	hsa-miR-2278	PAR-CLIP	21572407
MIRT508035	hsa-miR-4496	PAR-CLIP	21572407
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	21572407
MIRT508033	hsa-miR-3148	PAR-CLIP	21572407
MIRT549234	hsa-miR-208a-3p	PAR-CLIP	21572407
MIRT549233	hsa-miR-208b-3p	PAR-CLIP	21572407
MIRT549232	hsa-miR-499a-5p	PAR-CLIP	21572407
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT006752	hsa-miR-107	PAR-CLIP	23446348
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT508036	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT006751	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT508038	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508039	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508037	hsa-miR-2278	PAR-CLIP	23446348
MIRT508035	hsa-miR-4496	PAR-CLIP	23446348
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	23446348
MIRT508033	hsa-miR-3148	PAR-CLIP	23446348
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT006752	hsa-miR-107	PAR-CLIP	23446348
MIRT027137	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT508041	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT508040	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT508039	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT006751	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT006750	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT508038	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT508036	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT508037	hsa-miR-2278	PAR-CLIP	23446348
MIRT508035	hsa-miR-4496	PAR-CLIP	23446348
MIRT508034	hsa-miR-6501-3p	PAR-CLIP	23446348
MIRT508033	hsa-miR-3148	PAR-CLIP	23446348
MIRT508032	hsa-miR-4668-5p	PAR-CLIP	23446348
MIRT732825	hsa-miR-1246	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, RNA-seq	35216222
MIRT812386	hsa-miR-103a	CLIP-seq
MIRT812387	hsa-miR-1275	CLIP-seq
MIRT812388	hsa-miR-130a	CLIP-seq
MIRT812389	hsa-miR-130b	CLIP-seq
MIRT812390	hsa-miR-15a	CLIP-seq
MIRT812391	hsa-miR-15b	CLIP-seq
MIRT812392	hsa-miR-16	CLIP-seq
MIRT812393	hsa-miR-183	CLIP-seq
MIRT812394	hsa-miR-193a-3p	CLIP-seq
MIRT812395	hsa-miR-193b	CLIP-seq
MIRT812396	hsa-miR-195	CLIP-seq
MIRT812397	hsa-miR-19a	CLIP-seq
MIRT812398	hsa-miR-19b	CLIP-seq
MIRT812399	hsa-miR-221	CLIP-seq
MIRT812400	hsa-miR-222	CLIP-seq
MIRT812401	hsa-miR-2276	CLIP-seq
MIRT812402	hsa-miR-2861	CLIP-seq
MIRT812403	hsa-miR-301a	CLIP-seq
MIRT812404	hsa-miR-301b	CLIP-seq
MIRT812405	hsa-miR-3127-3p	CLIP-seq
MIRT812406	hsa-miR-3150a-3p	CLIP-seq
MIRT812407	hsa-miR-3175	CLIP-seq
MIRT812408	hsa-miR-3184	CLIP-seq
MIRT812409	hsa-miR-330-3p	CLIP-seq
MIRT812410	hsa-miR-34a	CLIP-seq
MIRT812411	hsa-miR-34c-5p	CLIP-seq
MIRT812412	hsa-miR-3666	CLIP-seq
MIRT812413	hsa-miR-3691-3p	CLIP-seq
MIRT812414	hsa-miR-3924	CLIP-seq
MIRT812415	hsa-miR-3942-3p	CLIP-seq
MIRT812416	hsa-miR-3975	CLIP-seq
MIRT812417	hsa-miR-423-5p	CLIP-seq
MIRT812418	hsa-miR-424	CLIP-seq
MIRT812419	hsa-miR-4290	CLIP-seq
MIRT812420	hsa-miR-4295	CLIP-seq
MIRT812421	hsa-miR-4421	CLIP-seq
MIRT812422	hsa-miR-4422	CLIP-seq
MIRT812423	hsa-miR-4450	CLIP-seq
MIRT812424	hsa-miR-4476	CLIP-seq
MIRT812425	hsa-miR-4493	CLIP-seq
MIRT812426	hsa-miR-4495	CLIP-seq
MIRT812427	hsa-miR-449a	CLIP-seq
MIRT812428	hsa-miR-449b	CLIP-seq
MIRT812429	hsa-miR-4525	CLIP-seq
MIRT812430	hsa-miR-454	CLIP-seq
MIRT812431	hsa-miR-4665-5p	CLIP-seq
MIRT812432	hsa-miR-4667-5p	CLIP-seq
MIRT812433	hsa-miR-4671-3p	CLIP-seq
MIRT812434	hsa-miR-4700-5p	CLIP-seq
MIRT812435	hsa-miR-4716-3p	CLIP-seq
MIRT812436	hsa-miR-4723-5p	CLIP-seq
MIRT812437	hsa-miR-4772-3p	CLIP-seq
MIRT812438	hsa-miR-4789-5p	CLIP-seq
MIRT812439	hsa-miR-497	CLIP-seq
MIRT812440	hsa-miR-518a-5p	CLIP-seq
MIRT812441	hsa-miR-527	CLIP-seq
MIRT812442	hsa-miR-548a-3p	CLIP-seq
MIRT812443	hsa-miR-548e	CLIP-seq
MIRT812444	hsa-miR-548f	CLIP-seq
MIRT812445	hsa-miR-625	CLIP-seq
MIRT812446	hsa-miR-656	CLIP-seq
MIRT812447	hsa-miR-661	CLIP-seq
MIRT812448	hsa-miR-939	CLIP-seq
MIRT1940255	hsa-miR-4704-3p	CLIP-seq
MIRT1940256	hsa-miR-4714-3p	CLIP-seq
MIRT1940257	hsa-miR-490-3p	CLIP-seq
MIRT1940258	hsa-miR-513a-5p	CLIP-seq
MIRT812386	hsa-miR-103a	CLIP-seq
MIRT812422	hsa-miR-4422	CLIP-seq
MIRT812399	hsa-miR-221	CLIP-seq
MIRT812400	hsa-miR-222	CLIP-seq
MIRT2444527	hsa-miR-3163	CLIP-seq
MIRT2444528	hsa-miR-4282	CLIP-seq
MIRT2444529	hsa-miR-4484	CLIP-seq
MIRT2444530	hsa-miR-548an	CLIP-seq
MIRT2444531	hsa-miR-590-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CDX2	Activation	23393221
CDX2	Unknown	24501326
MYC	Unknown	24299953
SOX4	Unknown	22098624

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001957	Process	Intramembranous ossification	IEA
GO:0003139	Process	Secondary heart field specification	IEA
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003183	Process	Mitral valve morphogenesis	ISS
GO:0003413	Process	Chondrocyte differentiation involved in endochondral bone morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	10698523, 16815967, 17510365, 22056988, 23455922, 23602568, 24251807, 25873176, 29568061, 30824926, 32296183, 32707033, 33961781, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12072559, 21383061
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	21383061
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20300119
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008013	Function	Beta-catenin binding	NAS	11017067
GO:0008104	Process	Intracellular protein localization	IDA	17072303
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009950	Process	Dorsal/ventral axis specification	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IMP	17072303
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0019899	Function	Enzyme binding	IPI	19759537, 21383061, 21478859
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030877	Component	Beta-catenin destruction complex	IBA
GO:0030877	Component	Beta-catenin destruction complex	NAS	9601641, 11017067
GO:0031625	Function	Ubiquitin protein ligase binding	IBA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	21478859
GO:0032423	Process	Regulation of mismatch repair	IMP	11017067
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0033689	Process	Negative regulation of osteoblast proliferation	IEA
GO:0042476	Process	Odontogenesis	IMP	15042511, 16432638
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	9601641
GO:0043570	Process	Maintenance of DNA repeat elements	IMP	18755497
GO:0045600	Process	Positive regulation of fat cell differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0048255	Process	MRNA stabilization	IMP	17072303
GO:0048468	Process	Cell development	IBA
GO:0048545	Process	Response to steroid hormone	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IMP	17072303, 20300119
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0061181	Process	Regulation of chondrocyte development	IEA
GO:0070411	Function	I-SMAD binding	IBA
GO:0070411	Function	I-SMAD binding	IEA
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	IBA
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	IEA
GO:0070602	Process	Regulation of centromeric sister chromatid cohesion	IMP	20300119
GO:0071549	Process	Cellular response to dexamethasone stimulus	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IBA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	11940574
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	11017067, 16247484
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS
GO:1903053	Process	Regulation of extracellular matrix organization	IEA
GO:1903053	Process	Regulation of extracellular matrix organization	ISS

Other IDs

• MIM: 604025
• HGNC: 904
• e!Ensembl: ENSG00000168646

Protein

• UniProt ID: Q9Y2T1
• Protein name: Axin-2 (Axin-like protein) (Axil) (Axis inhibition protein 2) (Conductin)
• Protein function: Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B.
• PDB: 8HEO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16646	AXIN1_TNKS_BD	9 → 73	Axin-1 tankyrase binding domain	Disordered
  PF00615	RGS	81 → 199	Regulator of G protein signaling domain	Domain
  PF08833	Axin_b-cat_bind	433 → 469	Axin beta-catenin binding motif	Motif
  PF00778	DIX	762 → 841	DIX domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain and lymphoblast.
• Sequence:

  MSSAMLVTCLPDPSSSFREDAPRPPVPGEEGETPPCQPGVGKGQVTKPMSVSSNTRRNED
  GLGEPEGRASPDSPLTRWTKSLHSLLGDQDGAYLFRTFLEREKCVDTLDFWFACNGFRQM
  NLKDTKTLRVAKAIYKRYIENNSIVSKQLKPATKTYIRDGIKKQQIDSIMFDQAQTEIQS
  VMEENAYQMFLTSDIYLEYVRSGGENTAYMSNGGLGSLKVVCGYLPTLNEEEEWTCADFK
  CKLSPTVVGLSSKTLRATASVRSTETVDSGYRSFKRSDPVNPYHIGSGYVFAPATSANDS
  EISSDALTDDSMSMTDSSVDGIPPYRVGSKKQLQREMHRSVKANGQVSLPHFPRTHRLPK
  EMTPVEPATFAAELISRLEKLKLELESRHSLEERLQQIREDEEREGSELTLNSREGAPTQ
  HPLSLLPSGSYEEDPQTILDDHLSRVLKTPGCQSPGVGRYSPRSRSPDHHHHHHSQYHSL
  LPPGGKLPPAAASPGACPLLGGKGFVTKQTTKHVHHHYIHHHAVPKTKEEIEAEATQRVH
  CFCPGGSEYYCYSKCKSHSKAPETMPSEQFGGSRGSTLPKRNGKGTEPGLALPAREGGAP
  GGAGALQLPREEGDRSQDVWQWMLESERQSKPKPHSAQSTKKAYPLESARSSPGERASRH
  HLWGGNSGHPRTTPRAHLFTQDPAMPPLTPPNTLAQLEEACRRLAEVSKPPKQRCCVASQ
  QRDRNHSATVQTGATPFSNPSLAPEDHKEPKKLAGVHALQASELVVTYFFCGEEIPYRRM
  LKAQSLTLGHFKEQLSKKGNYRYYFKKASDEFACGAVFEEIWEDETVLPMYEGRILGKVE
  RID

• Sequence length: 843

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:

TCF dependent signaling in response to WNT
Binding of TCF/LEF:CTNNB1 to target gene promoters
Degradation of AXIN
Ub-specific processing proteases

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
AXIN2-related attenuated familial adenomatous polyposis	Pathogenic; Likely pathogenic	rs2144440026, rs2043915274, rs2144440630, rs911977110, rs2144443827, rs2144457016, rs2144461122, rs2144589643, rs730882193	RCV001647267 RCV001647266 RCV001647265 RCV001647264 RCV001647263 RCV001647262 RCV001647261 RCV001647260 RCV001642532	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AXIN2-related disorder	Likely pathogenic; Pathogenic	rs752865337, rs1458077502, rs2509389531	RCV004529186 RCV004529192 RCV003335879	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of colon	Pathogenic; Likely pathogenic	rs121908567, rs267606674	RCV000006237 RCV000006238	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic; Pathogenic	rs2144500829, rs267606674, rs759917468, rs746837986, rs2544255457, rs2544248410, rs75747149, rs2144477057, rs2544195997, rs2144540259, rs2144540270, rs2509397361, rs1567755946, rs2043913790, rs781384784	RCV003475131 RCV003472981 RCV003475456 RCV003475566 RCV003475567 RCV003474290 RCV003474291 RCV003474292 RCV003474293 RCV003474294 RCV003474295 RCV003474296 RCV004568476 RCV000735963 RCV003473628 RCV003473777	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ectodermal dysplasia	Pathogenic	rs267606674	RCV006276093	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2144440894, rs2144419566, rs2144465819, rs1555577121, rs2144581824, rs2144468895, rs2144455707, rs2144463649, rs2144587960, rs2144587770, rs2144585275, rs2544250350, rs2544248961, rs2544196005, rs2509409059, rs2509409036, rs2509414313, rs1357170855, rs2144448744, rs2509417045, rs2509407247, rs1301294410, rs2509402624, rs2509396878, rs2544253193, rs267606674, rs121908568, rs752865337, rs2509396943, rs2509402115, rs2483708247, rs2509413024, rs2509402390, rs746837986, rs2509417609, rs2544252847, rs2509414042, rs2509389531, rs2044294792, rs2544247385, rs2509402279, rs2544252448, rs1056103847, rs2509414978, rs2544254066, rs1555577625, rs1555583659, rs730882193, rs367624903, rs1299440644, rs1598097196, rs1598118962, rs1598119841, rs1309148182, rs2043913790, rs2043961707, rs781384784	RCV003298628 RCV005520559 RCV005301042 RCV002423043 RCV002422934 RCV005764573 RCV002398010 RCV002258675 RCV002324780 RCV002326472 RCV002351207 RCV002337852 RCV002360270 RCV002401500 RCV002414809 RCV002399102 RCV002396822 RCV002398917 RCV002415151 RCV002380965 RCV002412756 RCV002410791 RCV002416940 RCV002425783 RCV002455819 RCV002415401 RCV003162213 RCV005752139 RCV003187336 RCV003187346 RCV003306379 RCV003293480 RCV003293482 RCV005515553 RCV004949072 RCV003384369 RCV004949074 RCV004334135 RCV005515554 RCV003368302 RCV005515567 RCV004519113 RCV004519130 RCV004519138 RCV004519094 RCV004519105 RCV002404442 RCV005762044 RCV004018706 RCV003352959 RCV001015156 RCV002422437 RCV002408989 RCV002390634 RCV001020611 RCV001012814 RCV002429597 RCV005512935 RCV004686642	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Medulloblastoma WNT activated	Pathogenic	rs267606674	RCV006254125	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs771001164	RCV006273984	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-syndromic oligodontia	Pathogenic	rs752881223	RCV000201305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Pathogenic	rs1567755946	RCV000735963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia-cancer predisposition syndrome	Pathogenic; Likely pathogenic	rs2144440026, rs2043915274, rs2144440630, rs2144443827, rs2144475422, rs2144419495, rs2144440894, rs2144582634, rs2144582778, rs2144589420, rs2144592396, rs2144499916, rs2144460694, rs2144432097, rs2144465819, rs1555577121, rs2144433886, rs781384784, rs2144441207, rs2144581824, rs2144468895, rs2144500829, rs2144462978, rs2144455707, rs2144457222, rs2144456730, rs2144438870, rs2144587960, rs2509417045, rs2509402624, rs2144589822, rs2544249780, rs2509403513, rs267606674, rs121908568, rs2509414713, rs759917468, rs752865337, rs1555578459, rs2509402190, rs2509389582, rs753803824, rs2509416268, rs2544196558, rs2544252708, rs1458077502, rs2509389560, rs2544250881, rs2509401757, rs2509402390, rs2544254960, rs746837986, rs770254456, rs2544256340, rs2544197107, rs761870581, rs1428503249, rs2544251507, rs2509410958, rs2509402361, rs2544249496, rs2544255457, rs771001164, rs2544254203, rs2544218536, rs2509417609, rs2509416773, rs2544249018, rs2544252847, rs2509414042, rs2144477057, rs2144540259, rs2509416620, rs2544247794, rs2509397598, rs2544247385, rs2043899828, rs2509397413, rs2544254746, rs2544253595, rs2544218285, rs2544254111, rs2144456484, rs2509414761, rs2509412566, rs1555577625, rs1555583659, rs730882193, rs1555577613, rs367624903, rs1299440644, rs1567769335, rs1567755946, rs1598093952, rs1598097196, rs1598104209, rs1598118962, rs1056103847, rs1598119889, rs1309148182, rs2043866331, rs2043913790, rs2043947540, rs552141978, rs2044303218, rs2044308192, rs2043981878, rs2043961707	RCV001647267 RCV001647266 RCV003336376 RCV001647263 RCV001378189 RCV001390878 RCV001384147 RCV001388918 RCV001388518 RCV001389089 RCV001919264 RCV001922101 RCV001918945 RCV001991107 RCV001941741 RCV001921080 RCV001875659 RCV002006089 RCV001891838 RCV001877307 RCV002024544 RCV001870762 RCV001908100 RCV002037954 RCV001951120 RCV001959073 RCV001983458 RCV003336525 RCV005097425 RCV003100988 RCV002838871 RCV002867531 RCV002886149 RCV000463233 RCV000006239 RCV002881834 RCV002952710 RCV003004999 RCV003007374 RCV003015871 RCV003010453 RCV003026369 RCV003034000 RCV003042893 RCV003049507 RCV003048895 RCV003057087 RCV003140329 RCV003336842 RCV003314063 RCV003337072 RCV003337073 RCV003337077 RCV003337091 RCV003337098 RCV003337101 RCV003337106 RCV003337111 RCV003337112 RCV003337114 RCV003337183 RCV003337184 RCV003337208 RCV003337216 RCV003337220 RCV003334489 RCV003334523 RCV003334551 RCV003334586 RCV003334596 RCV003334760 RCV005100250 RCV003615960 RCV003505779 RCV003505418 RCV003505447 RCV003505515 RCV003505936 RCV003504602 RCV003504898 RCV003504959 RCV003505003 RCV003616402 RCV003616685 RCV003616802 RCV003814140 RCV000557201 RCV000537282 RCV000033255 RCV000640201 RCV000640222 RCV000640202 RCV000806112 RCV000700824 RCV000686491 RCV001385045 RCV000824489 RCV000822291 RCV000814863 RCV000810715 RCV000807176 RCV000822696 RCV001860724 RCV001053002 RCV001043686 RCV001069085 RCV001057684 RCV001042771 RCV001070664 RCV001064432 RCV001043662 RCV001205158 RCV001221991	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aganglionic megacolon	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOOTH AGENESIS, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tooth agenesis, selective, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR REMODELING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adamantinous Craniopharyngioma	Adamantinous Craniopharyngioma	BEFREE	30074466		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	28714374		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16941501, 24964857		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	BEFREE	29496310		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10021369, 10549354, 11752446, 12530096, 14633602, 20696052, 23838596, 24501326, 24722208, 26910375, 27679509, 30671715, 31723073		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	21733995		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	23812285		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	29872083	Associate	★☆☆☆☆ Found in Text Mining only
ADRENOCORTICAL CARCINOMA, HEREDITARY	Adrenocortical carcinoma	BEFREE	30346805		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23812285		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	18284543		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	23838596		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	17072303		★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	30942098	Associate	★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	26572152		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	15042511, 18683894, 18790474, 23227268, 24160254, 24631698, 29893310, 31781599, 31914153, 32807118, 36017684, 36502525, 36860143, 38115305, 39183201	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	Pubtator	32807118	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	28069701		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	23812285		★☆☆☆☆ Found in Text Mining only
Attenuated familial adenomatous polyposis	Adenomatous polyposis	Pubtator	23838596, 31285513	Associate	★☆☆☆☆ Found in Text Mining only
AXIN2-related attenuated familial adenomatous polyposis	Adenomatous Polyposis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Barrett Esophagus	Barrett esophagus	Pubtator	26297437	Stimulate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	30841855		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of stomach	Benign Neoplasm Of Stomach	CGI_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30070321		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16501043, 17072303, 18708403, 25504512, 26514524, 27197202, 29444668, 30809286		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18708403, 21416598, 23516639, 26514524, 27188720, 30442712, 34452579, 34454393, 35996498	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24631698, 26514524, 27188720	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18755497, 20663899, 24964857		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	27825128	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23651211, 25119594, 26191213, 33811251	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of stomach	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30070321		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16820935, 18372914, 25091576, 25974148, 28378643, 30346805, 31038806		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34454393	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24078348		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	29394407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	29394407		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31650542		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37832404	Inhibit	★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	16815967	Stimulate	★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	18683894, 36860143	Associate	★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	22887353		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	18683894, 19119171, 28376813, 29211286, 36860143	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11752446, 15885887, 16815967, 19119171, 24631698, 25504512, 29307822		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	11752446, 16815967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	11752446	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	16815967, 22745173, 24299953, 24964857, 27245242, 28714374	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	19119171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	21188121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Polyps	Colonic polyps	Pubtator	36860143	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11474173, 15042511, 16247484, 16820935, 16941501, 18499550, 18790474, 20696052, 21541676, 22207181, 23624843, 26025668, 27090353, 27228364, 28534366, 29534875, 29893310, 30338942, 31273221, 31485167, 31723073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11752446, 15042511, 16815967, 18422752, 18683894, 18790474, 19119171, 20696052, 23624843, 23951239, 24299953, 24631698, 27245242, 27696107, 28534366, 29869456, 29893310, 30338942, 31127692, 31534175, 31723073, 31769227, 31893510, 33401247, 35484177, 35710032, 36267311, 36364474, 36502525, 36860143	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15042511, 16247484, 17143297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22745173	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32258125	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	23951239	Associate	★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	30260286		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	30760879		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23893409		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30760879		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	18540944	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	32575385	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28520221, 30088857		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	21876774		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21876774		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	21416598, 23838596, 30671715		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	21416598, 23838596, 32807118	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal Dysplasia 1 Anhidrotic	Ectodermal dysplasia	Pubtator	26759063	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12439748, 19787250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	38115305	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	26252180, 28800883		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	26252180, 28800883		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18084253	Associate	★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	27188753	Associate	★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	26715268		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26715268	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	32807118	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25764520, 26222502		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26222502	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25764520, 26222502		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26222502, 26452219, 27736002		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26222502	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	16820935		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33096676	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	12101426, 15538750, 15958610, 19200579		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	28376813	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	31563876	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27871853		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	15042511, 16432638, 16918677, 17552940, 18573979, 18771513, 18790474, 21416598, 21530942, 21626677, 23731659, 24581859, 25377791, 26025668, 26406231, 27090353, 30671715, 31781599		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25347326	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	38035113	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28694128		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33930428	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30678306	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	11809809, 23393221		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25734857, 35780585	Associate	★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	BEFREE	28939076		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	24166197		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12101426, 18592156, 26191213, 29445127, 30453289		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28783177		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11809809		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18372914		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25091576, 28378643, 35101137	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	24465439		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	24465439	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31723073	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	16820935		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	24041698		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16501043, 17072303, 18708403, 21416598, 23516639, 25504512, 26514524, 27197202, 29444668, 30809286		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19787250		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	26252180, 28800883		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	26715268		★☆☆☆☆ 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	25504512, 26956539, 31163223, 31814849		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16820935, 18372914, 25091576, 25974148, 28378643, 30346805, 31038806		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	24166197		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24078348		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21069480, 26771938, 31038806		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	18755497		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30070321		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14633328, 15042511, 16820935, 19119171, 23169889, 25974148, 26352987, 27009842, 28043155, 28376813, 29966337, 30671715, 31038806, 31534175		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11752446, 15885887, 19119171, 24631698, 25504512, 26031752, 29307822		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	21188121		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18708403		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	28069701		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17373666		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	17373666		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18384130		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18384130		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32933177	Associate	★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	17214850		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28560057		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	29394407		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10911903, 11719457, 11809809, 15802015, 15885887, 17072303, 17373666, 18708403, 18755497, 21416598, 21733995, 22207181, 22699938, 23812285, 24166495, 24925057, 25091576, 25915038, 26025668, 26031752, 26252180, 26771938, 27679509, 27825128, 28105693, 28378643, 28694128, 29383099, 29534875, 29716922, 29872083, 30238564, 31149039		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	27009842		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27009842	Associate	★☆☆☆☆ Found in Text Mining only
Nodular fasciitis	Nodular Fasciitis	BEFREE	16440290		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	15042511, 16432638, 16918677, 17552940, 18790474, 21416598, 21530942, 21626677, 23731659, 24581859, 25377791, 26025668, 26406231, 27090353, 30671715		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Oligodontia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Oligodontia	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia	Oligodontia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia-cancer predisposition syndrome	Oligodontia-Cancer Predisposition Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oligodontia-Colorectal Cancer Syndrome	Oligodontia-Colorectal Cancer Syndrome	CLINGEN_DG	15042511, 16247484, 16815967, 21416598, 22745173, 23702820, 27696107		★☆☆☆☆ Found in Text Mining only
Oligodontia-Colorectal Cancer Syndrome	Oligodontia-Colorectal Cancer Syndrome	CLINVAR_DG	15042511, 21416598, 22581971, 27090353		★☆☆☆☆ Found in Text Mining only
Oligodontia-Colorectal Cancer Syndrome	Oligodontia-Colorectal Cancer Syndrome	ORPHANET_DG	15042511, 21416598		★☆☆☆☆ Found in Text Mining only
Oligodontia-Colorectal Cancer Syndrome	Oligodontia-Colorectal Cancer Syndrome	BEFREE	16941501		★☆☆☆☆ Found in Text Mining only
Oligodontia-Colorectal Cancer Syndrome	Oligodontia-Colorectal Cancer Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	32710482	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26617789, 31536386		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26617789	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24078348		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20635389, 24078348	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21666490	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37488774, 38035113	Associate	★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	30074466		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	34454393	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30176346, 30500462		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39912710	Associate	★☆☆☆☆ Found in Text Mining only
Polyp of large intestine	Polyp Of Large Intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21069480, 26771938, 31038806		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18478098	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26771938	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	27188753	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28694128		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23893409		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	30088857		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	BEFREE	30088857		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36007290	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	18330950	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18330950, 18683894, 36551233, 36578802	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	28376813		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	26905812		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29409120		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34281460	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Agenesis, Familial	Tooth Agenesis	BEFREE	15042511, 17552940		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24188694, 30053090		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24188694	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	18499550, 18683894, 28692808		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30070321, 36331809	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	14633328		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34309414	Associate	★☆☆☆☆ Found in Text Mining only