SOX9 (SRY-box transcription factor 9)

Gene

• Entrez ID: 6662
• Gene name: SRY-box transcription factor 9
• Gene symbol: SOX9
• Synonyms (NCBI Gene): CMD1, CMPD1, ENH13, SRA1, SRXX2, SRXY10, TES, TESCO
• Chromosome: 17
• Chromosome location: 17q24.3
• Summary: The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muelleria

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2229989	C>G,T	Pathogenic, benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs80338688	C>A,G,T	Benign-likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs104894647	A>G	Pathogenic	Missense variant, coding sequence variant
rs144824678	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs370951695	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373719106	C>A,G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs587776541	->C	Pathogenic	Coding sequence variant, frameshift variant
rs866706988	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886039700	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043831	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1057517827	GCCCCTTCAACCTCCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518216	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1057518669	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793556	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796718	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691554	C>T	Pathogenic	Coding sequence variant, missense variant
rs1274036689	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1324081394	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1339655148	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1341243329	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1480235826	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1555629158	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555629169	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555629170	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555629195	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555629290	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555629370	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555629374	CC>G	Pathogenic	Frameshift variant, coding sequence variant
rs1555629443	C>T	Pathogenic	Stop gained, coding sequence variant
rs1598176416	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598176495	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598176531	->GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598176657	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598176785	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1598176852	C>T	Pathogenic	Coding sequence variant, stop gained
rs1598176962	TCACAGTACGACTACACCG>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005049	hsa-let-7b-5p	Microarray	17699775
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT006193	hsa-miR-199a-5p	qRT-PCR	22441842
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	23178713
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, qRT-PCR, Western blot	23178713
MIRT007222	hsa-miR-1-3p	Luciferase reporter assay	23352489
MIRT017858	hsa-miR-335-5p	Microarray	18185580
MIRT053113	hsa-miR-140-5p	Luciferase reporter assay, Western blot	23752191
MIRT053113	hsa-miR-140-5p	Luciferase reporter assay, Western blot	23752191
MIRT053231	hsa-miR-495-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot, safranin o staining/GAGs contents assay	24654627
MIRT053648	hsa-miR-145-5p	Microarray	22942087
MIRT053648	hsa-miR-145-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23814265
MIRT053648	hsa-miR-145-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23814265
MIRT053648	hsa-miR-145-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23814265
MIRT053648	hsa-miR-145-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	23814265
MIRT437486	hsa-miR-1247-5p	Luciferase reporter assay, qRT-PCR, Western blot	24014021
MIRT053648	hsa-miR-145-5p	Immunohistochemistry	23548270
MIRT724742	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT724741	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT724740	hsa-miR-6884-3p	HITS-CLIP	19536157
MIRT387257	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT724739	hsa-miR-3194-3p	HITS-CLIP	19536157
MIRT724738	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT724737	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT724736	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT724735	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT387267	hsa-miR-5691	HITS-CLIP	19536157
MIRT387270	hsa-miR-6805-3p	HITS-CLIP	19536157
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT612434	hsa-miR-3714	HITS-CLIP	23313552
MIRT612433	hsa-miR-3910	HITS-CLIP	23313552
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23313552
MIRT612431	hsa-miR-8485	HITS-CLIP	23313552
MIRT612430	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT612429	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT612426	hsa-miR-506-3p	HITS-CLIP	23313552
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23824327
MIRT612431	hsa-miR-8485	HITS-CLIP	23824327
MIRT612430	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612429	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23824327
MIRT612431	hsa-miR-8485	HITS-CLIP	23824327
MIRT612430	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612429	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT612434	hsa-miR-3714	HITS-CLIP	23824327
MIRT612433	hsa-miR-3910	HITS-CLIP	23824327
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23824327
MIRT612431	hsa-miR-8485	HITS-CLIP	23824327
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT612426	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT612434	hsa-miR-3714	HITS-CLIP	23824327
MIRT612433	hsa-miR-3910	HITS-CLIP	23824327
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23824327
MIRT612431	hsa-miR-8485	HITS-CLIP	23824327
MIRT612430	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612429	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612428	hsa-miR-1323	HITS-CLIP	23824327
MIRT612427	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT612426	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT053648	hsa-miR-145-5p	Luciferase reporter assay, Western blot, Immunofluorescence	25145279
MIRT007091	hsa-miR-101-3p	Microarray	28416776
MIRT007091	hsa-miR-101-3p	Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assay, Western blot	28147312
MIRT053648	hsa-miR-145-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33734580
MIRT053648	hsa-miR-145-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	33734580
MIRT733554	hsa-miR-30a-5p	Immunohistochemistry (IHC), RNA-seq, qRT-PCR	31506771
MIRT733735	hsa-miR-582-3p	Immunohistochemistry (IHC)	33510968
MIRT733951	hsa-miR-139-5p	Immunohistochemistry (IHC), Luciferase reporter assay, Western blotting	32343928
MIRT734586	hsa-miR-30d-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunofluorescence, qRT-PCR	32488851
MIRT735043	hsa-miR-9-3p	Western blotting, Immunohistochemistry (IHC), qRT-PCR	32979863
MIRT000360	hsa-miR-124-3p	Western blotting, Immunohistochemistry (IHC), qRT-PCR	32979863
MIRT735387	hsa-miR-583	Luciferase reporter assay, Western blotting, qRT-PCR, In situ hybridization	33437631
MIRT735388	hsa-miR-520f-3p	Western blotting, qRT-PCR	32277152
MIRT735761	hsa-miR-30a-3p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, Flow cytometry	31807153
MIRT736084	hsa-miR-145-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	31602220
MIRT736084	hsa-miR-145-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	31602220
MIRT053648	hsa-miR-145-5p	qRT-PCR	31534349
MIRT736281	hsa-miR-140-3p	qRT-PCR	32091634
MIRT736709	hsa-miR-215-5p	Luciferase reporter assay, Western blotting, qRT-PCR	31538724
MIRT736909	hsa-miR-431-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow cytometry	34132375
MIRT724742	hsa-miR-5196-3p	HITS-CLIP	19536157
MIRT724741	hsa-miR-4793-5p	HITS-CLIP	19536157
MIRT724740	hsa-miR-6884-3p	HITS-CLIP	19536157
MIRT387257	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT724739	hsa-miR-3194-3p	HITS-CLIP	19536157
MIRT724738	hsa-miR-4691-5p	HITS-CLIP	19536157
MIRT724737	hsa-miR-6792-3p	HITS-CLIP	19536157
MIRT724736	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT724735	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT387267	hsa-miR-5691	HITS-CLIP	19536157
MIRT387270	hsa-miR-6805-3p	HITS-CLIP	19536157
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT612434	hsa-miR-3714	HITS-CLIP	23313552
MIRT612433	hsa-miR-3910	HITS-CLIP	23313552
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23313552
MIRT612431	hsa-miR-8485	HITS-CLIP	23313552
MIRT612430	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT612429	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT612426	hsa-miR-506-3p	HITS-CLIP	23313552
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23824327
MIRT612431	hsa-miR-8485	HITS-CLIP	23824327
MIRT612430	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612429	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23824327
MIRT612431	hsa-miR-8485	HITS-CLIP	23824327
MIRT612430	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612429	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT612434	hsa-miR-3714	HITS-CLIP	23824327
MIRT612433	hsa-miR-3910	HITS-CLIP	23824327
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23824327
MIRT612431	hsa-miR-8485	HITS-CLIP	23824327
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT612426	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT612434	hsa-miR-3714	HITS-CLIP	23824327
MIRT612433	hsa-miR-3910	HITS-CLIP	23824327
MIRT612432	hsa-miR-338-5p	HITS-CLIP	23824327
MIRT612431	hsa-miR-8485	HITS-CLIP	23824327
MIRT612430	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612429	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612428	hsa-miR-1323	HITS-CLIP	23824327
MIRT612427	hsa-miR-548o-3p	HITS-CLIP	23824327
MIRT000360	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT612426	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT755824	hsa-miR-302a-5p	Luciferase reporter assay, RNA-seq, Immunofluorescence	36724256
MIRT755970	hsa-miR-432-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunofluorescence, Flow cytometry	37555796
MIRT756411	hsa-miR-134-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35779228
MIRT1380776	hsa-miR-1252	CLIP-seq
MIRT1380777	hsa-miR-185	CLIP-seq
MIRT1380778	hsa-miR-3153	CLIP-seq
MIRT1380779	hsa-miR-329	CLIP-seq
MIRT1380780	hsa-miR-3925-5p	CLIP-seq
MIRT1380781	hsa-miR-4260	CLIP-seq
MIRT1380782	hsa-miR-4306	CLIP-seq
MIRT1380783	hsa-miR-4459	CLIP-seq
MIRT1380784	hsa-miR-4464	CLIP-seq
MIRT1380785	hsa-miR-4644	CLIP-seq
MIRT1380786	hsa-miR-4722-5p	CLIP-seq
MIRT1380787	hsa-miR-4748	CLIP-seq
MIRT1380788	hsa-miR-4789-5p	CLIP-seq
MIRT1380789	hsa-miR-548ag	CLIP-seq
MIRT1380790	hsa-miR-548ai	CLIP-seq
MIRT1380791	hsa-miR-548an	CLIP-seq
MIRT1380792	hsa-miR-548m	CLIP-seq
MIRT1380793	hsa-miR-548o	CLIP-seq
MIRT1380794	hsa-miR-597	CLIP-seq
MIRT1380795	hsa-miR-599	CLIP-seq
MIRT1380796	hsa-miR-940	CLIP-seq
MIRT2114012	hsa-miR-124	CLIP-seq
MIRT2114013	hsa-miR-4690-3p	CLIP-seq
MIRT2114014	hsa-miR-506	CLIP-seq
MIRT2337002	hsa-miR-1225-5p	CLIP-seq
MIRT2337003	hsa-miR-34a	CLIP-seq
MIRT2337004	hsa-miR-34c-5p	CLIP-seq
MIRT2337005	hsa-miR-3675-5p	CLIP-seq
MIRT2337006	hsa-miR-3692	CLIP-seq
MIRT2337007	hsa-miR-4297	CLIP-seq
MIRT2337008	hsa-miR-4302	CLIP-seq
MIRT2337009	hsa-miR-449a	CLIP-seq
MIRT2337010	hsa-miR-449b	CLIP-seq
MIRT2337011	hsa-miR-4514	CLIP-seq
MIRT2337012	hsa-miR-4645-5p	CLIP-seq
MIRT2337013	hsa-miR-4655-5p	CLIP-seq
MIRT2337014	hsa-miR-4673	CLIP-seq
MIRT2337015	hsa-miR-4690-5p	CLIP-seq
MIRT2337016	hsa-miR-4692	CLIP-seq
MIRT2337017	hsa-miR-4717-3p	CLIP-seq
MIRT2337018	hsa-miR-4742-5p	CLIP-seq
MIRT2337019	hsa-miR-4755-3p	CLIP-seq
MIRT2337020	hsa-miR-486-3p	CLIP-seq
MIRT2337021	hsa-miR-639	CLIP-seq
MIRT2337022	hsa-miR-648	CLIP-seq
MIRT1380796	hsa-miR-940	CLIP-seq
MIRT2337011	hsa-miR-4514	CLIP-seq
MIRT2337016	hsa-miR-4692	CLIP-seq
MIRT2114012	hsa-miR-124	CLIP-seq
MIRT2630412	hsa-miR-1273e	CLIP-seq
MIRT2630413	hsa-miR-141	CLIP-seq
MIRT2630414	hsa-miR-200a	CLIP-seq
MIRT2630415	hsa-miR-2053	CLIP-seq
MIRT2630416	hsa-miR-208a	CLIP-seq
MIRT2630417	hsa-miR-208b	CLIP-seq
MIRT2630418	hsa-miR-2113	CLIP-seq
MIRT2630419	hsa-miR-216b	CLIP-seq
MIRT2630420	hsa-miR-300	CLIP-seq
MIRT2630421	hsa-miR-3121-5p	CLIP-seq
MIRT2630422	hsa-miR-3185	CLIP-seq
MIRT1380779	hsa-miR-329	CLIP-seq
MIRT2630423	hsa-miR-33a	CLIP-seq
MIRT2630424	hsa-miR-33b	CLIP-seq
MIRT2630425	hsa-miR-3613-3p	CLIP-seq
MIRT2630426	hsa-miR-3688-5p	CLIP-seq
MIRT2630427	hsa-miR-381	CLIP-seq
MIRT2630428	hsa-miR-4276	CLIP-seq
MIRT2630429	hsa-miR-4327	CLIP-seq
MIRT2630430	hsa-miR-4418	CLIP-seq
MIRT2630431	hsa-miR-4432	CLIP-seq
MIRT2630432	hsa-miR-4477b	CLIP-seq
MIRT2630433	hsa-miR-450b-5p	CLIP-seq
MIRT2630434	hsa-miR-4643	CLIP-seq
MIRT2630435	hsa-miR-4666-3p	CLIP-seq
MIRT2114013	hsa-miR-4690-3p	CLIP-seq
MIRT2630436	hsa-miR-4704-5p	CLIP-seq
MIRT2630437	hsa-miR-4729	CLIP-seq
MIRT2630438	hsa-miR-4773	CLIP-seq
MIRT2630439	hsa-miR-4777-3p	CLIP-seq
MIRT1380788	hsa-miR-4789-5p	CLIP-seq
MIRT2630440	hsa-miR-4799-5p	CLIP-seq
MIRT2630441	hsa-miR-494	CLIP-seq
MIRT2630442	hsa-miR-499-5p	CLIP-seq
MIRT2114014	hsa-miR-506	CLIP-seq
MIRT2630443	hsa-miR-509-3-5p	CLIP-seq
MIRT2630444	hsa-miR-509-5p	CLIP-seq
MIRT2630445	hsa-miR-543	CLIP-seq
MIRT2630446	hsa-miR-548a-3p	CLIP-seq
MIRT1380791	hsa-miR-548an	CLIP-seq
MIRT2630447	hsa-miR-548e	CLIP-seq
MIRT2630448	hsa-miR-548f	CLIP-seq
MIRT2630449	hsa-miR-548g	CLIP-seq
MIRT1380793	hsa-miR-548o	CLIP-seq
MIRT2630450	hsa-miR-569	CLIP-seq
MIRT2630451	hsa-miR-570	CLIP-seq
MIRT1380794	hsa-miR-597	CLIP-seq
MIRT1380795	hsa-miR-599	CLIP-seq
MIRT2630452	hsa-miR-617	CLIP-seq
MIRT2630453	hsa-miR-642b	CLIP-seq
MIRT2630454	hsa-miR-889	CLIP-seq
MIRT2114012	hsa-miR-124	CLIP-seq
MIRT2630412	hsa-miR-1273e	CLIP-seq
MIRT2630413	hsa-miR-141	CLIP-seq
MIRT2630414	hsa-miR-200a	CLIP-seq
MIRT2630416	hsa-miR-208a	CLIP-seq
MIRT2630417	hsa-miR-208b	CLIP-seq
MIRT2630418	hsa-miR-2113	CLIP-seq
MIRT2630419	hsa-miR-216b	CLIP-seq
MIRT2630421	hsa-miR-3121-5p	CLIP-seq
MIRT1380779	hsa-miR-329	CLIP-seq
MIRT2630423	hsa-miR-33a	CLIP-seq
MIRT2630424	hsa-miR-33b	CLIP-seq
MIRT2630426	hsa-miR-3688-5p	CLIP-seq
MIRT2630428	hsa-miR-4276	CLIP-seq
MIRT2630429	hsa-miR-4327	CLIP-seq
MIRT2630430	hsa-miR-4418	CLIP-seq
MIRT2630431	hsa-miR-4432	CLIP-seq
MIRT1380783	hsa-miR-4459	CLIP-seq
MIRT2630433	hsa-miR-450b-5p	CLIP-seq
MIRT2630434	hsa-miR-4643	CLIP-seq
MIRT2114013	hsa-miR-4690-3p	CLIP-seq
MIRT2630436	hsa-miR-4704-5p	CLIP-seq
MIRT1380786	hsa-miR-4722-5p	CLIP-seq
MIRT2630437	hsa-miR-4729	CLIP-seq
MIRT2630438	hsa-miR-4773	CLIP-seq
MIRT2630439	hsa-miR-4777-3p	CLIP-seq
MIRT2630441	hsa-miR-494	CLIP-seq
MIRT2630442	hsa-miR-499-5p	CLIP-seq
MIRT2114014	hsa-miR-506	CLIP-seq
MIRT2630443	hsa-miR-509-3-5p	CLIP-seq
MIRT2630444	hsa-miR-509-5p	CLIP-seq
MIRT2630445	hsa-miR-543	CLIP-seq
MIRT1380791	hsa-miR-548an	CLIP-seq
MIRT1380793	hsa-miR-548o	CLIP-seq
MIRT2630451	hsa-miR-570	CLIP-seq
MIRT1380794	hsa-miR-597	CLIP-seq
MIRT1380795	hsa-miR-599	CLIP-seq
MIRT2630453	hsa-miR-642b	CLIP-seq
MIRT1380796	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPZ	Unknown	15908194
CREB1	Unknown	17289023
GLI1	Unknown	17409199
SF1	Unknown	21412441
SP1	Activation	17289023
SRY	Activation	11980203;19513096;19753101;22215485;22613723
SRY	Unknown	21408189;21412441
ZBTB16	Activation	21547890

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	29503843
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	24014021
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	20530484, 22110751
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	20484372, 21412441
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	10805756
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	20484372, 20530484, 21367821, 22110751, 31194875
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001501	Process	Skeletal system development	IMP	8640233
GO:0001502	Process	Cartilage condensation	IEA
GO:0001502	Process	Cartilage condensation	ISS
GO:0001503	Process	Ossification	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001708	Process	Cell fate specification	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	ISS
GO:0001894	Process	Tissue homeostasis	IEA
GO:0001894	Process	Tissue homeostasis	ISS
GO:0001942	Process	Hair follicle development	IEA
GO:0001942	Process	Hair follicle development	ISS
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	ISS
GO:0002062	Process	Chondrocyte differentiation	IBA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0002063	Process	Chondrocyte development	IEA
GO:0002067	Process	Glandular epithelial cell differentiation	IEA
GO:0002683	Process	Negative regulation of immune system process	IEA
GO:0002683	Process	Negative regulation of immune system process	ISS
GO:0003170	Process	Heart valve development	IEA
GO:0003170	Process	Heart valve development	ISS
GO:0003179	Process	Heart valve morphogenesis	IEA
GO:0003179	Process	Heart valve morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	IDA	22110751
GO:0003188	Process	Heart valve formation	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003413	Process	Chondrocyte differentiation involved in endochondral bone morphogenesis	IMP	20676705
GO:0003415	Process	Chondrocyte hypertrophy	IEA
GO:0003415	Process	Chondrocyte hypertrophy	ISS
GO:0003430	Process	Growth plate cartilage chondrocyte growth	IEA
GO:0003430	Process	Growth plate cartilage chondrocyte growth	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	20484372
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10805756
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	8640233
GO:0005515	Function	Protein binding	IPI	12810722, 20530484, 21346191, 28263186
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	8640233, 10805756, 12420222, 18512230, 26634652
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006334	Process	Nucleosome assembly	IDA	20484372
GO:0006338	Process	Chromatin remodeling	IDA	20484372
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	ISS
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	ISS	21512138
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007417	Process	Central nervous system development	IEA
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IEA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	20651055
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0008584	Process	Male gonad development	IMP	8640233
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010564	Process	Regulation of cell cycle process	IMP	12420222
GO:0010628	Process	Positive regulation of gene expression	IDA	24681825
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IMP	21512138
GO:0014032	Process	Neural crest cell development	IEA
GO:0014036	Process	Neural crest cell fate specification	ISS
GO:0019100	Process	Male germ-line sex determination	IEA
GO:0019100	Process	Male germ-line sex determination	ISS
GO:0021780	Process	Glial cell fate specification	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030238	Process	Male sex determination	IEA
GO:0030279	Process	Negative regulation of ossification	IDA	29503843
GO:0030279	Process	Negative regulation of ossification	IEA
GO:0030279	Process	Negative regulation of ossification	ISS
GO:0030282	Process	Bone mineralization	IEA
GO:0030502	Process	Negative regulation of bone mineralization	IEA
GO:0030850	Process	Prostate gland development	IEA
GO:0030850	Process	Prostate gland development	IEP	20103652
GO:0030857	Process	Negative regulation of epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	IEA
GO:0030858	Process	Positive regulation of epithelial cell differentiation	ISS
GO:0030879	Process	Mammary gland development	IEA
GO:0030903	Process	Notochord development	IEA
GO:0030916	Process	Otic vesicle formation	IEA
GO:0030916	Process	Otic vesicle formation	ISS
GO:0031018	Process	Endocrine pancreas development	IEA
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IEA
GO:0032331	Process	Negative regulation of chondrocyte differentiation	ISS
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IBA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IDA	21401405
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IMP	20676705
GO:0032808	Process	Lacrimal gland development	IEA
GO:0032991	Component	Protein-containing complex	IDA	20530484
GO:0034236	Function	Protein kinase A catalytic subunit binding	IPI	10805756
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035019	Process	Somatic stem cell population maintenance	ISS
GO:0035622	Process	Intrahepatic bile duct development	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0042981	Process	Regulation of apoptotic process	ISS
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043425	Function	BHLH transcription factor binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	31194875
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	ISS
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	ISS
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	20651055
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10805756
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	20651055
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	8640233, 20530484, 22110751
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	21367821
GO:0046322	Process	Negative regulation of fatty acid oxidation	IEA
GO:0046322	Process	Negative regulation of fatty acid oxidation	ISS
GO:0046533	Process	Negative regulation of photoreceptor cell differentiation	IEA
GO:0046533	Process	Negative regulation of photoreceptor cell differentiation	ISS
GO:0048665	Process	Neuron fate specification	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IBA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEP	20103652
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	ISS
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	ISS
GO:0060008	Process	Sertoli cell differentiation	IEA
GO:0060008	Process	Sertoli cell differentiation	ISS
GO:0060009	Process	Sertoli cell development	IEA
GO:0060009	Process	Sertoli cell development	IEA
GO:0060018	Process	Astrocyte fate commitment	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060041	Process	Retina development in camera-type eye	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0060221	Process	Retinal rod cell differentiation	ISS
GO:0060350	Process	Endochondral bone morphogenesis	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060487	Process	Lung epithelial cell differentiation	IEA
GO:0060509	Process	Type I pneumocyte differentiation	IEA
GO:0060512	Process	Prostate gland morphogenesis	IEA
GO:0060517	Process	Epithelial cell proliferation involved in prostatic bud elongation	IEA
GO:0060517	Process	Epithelial cell proliferation involved in prostatic bud elongation	ISS
GO:0060532	Process	Bronchus cartilage development	IEA
GO:0060534	Process	Trachea cartilage development	IEA
GO:0060575	Process	Intestinal epithelial cell differentiation	IEA
GO:0060729	Process	Intestinal epithelial structure maintenance	IEA
GO:0060729	Process	Intestinal epithelial structure maintenance	ISS
GO:0060784	Process	Regulation of cell proliferation involved in tissue homeostasis	IEA
GO:0060784	Process	Regulation of cell proliferation involved in tissue homeostasis	ISS
GO:0061036	Process	Positive regulation of cartilage development	IDA	21401405, 29503843
GO:0061036	Process	Positive regulation of cartilage development	IEA
GO:0061046	Process	Regulation of branching involved in lung morphogenesis	IEA
GO:0061138	Process	Morphogenesis of a branching epithelium	IEA
GO:0061138	Process	Morphogenesis of a branching epithelium	ISS
GO:0061145	Process	Lung smooth muscle development	IEA
GO:0061323	Process	Cell proliferation involved in heart morphogenesis	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	20530484
GO:0070168	Process	Negative regulation of biomineral tissue development	IDA	22110751
GO:0070168	Process	Negative regulation of biomineral tissue development	IEA
GO:0070168	Process	Negative regulation of biomineral tissue development	ISS
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	ISS	21512138
GO:0070384	Process	Harderian gland development	IEA
GO:0070542	Process	Response to fatty acid	IEA
GO:0070542	Process	Response to fatty acid	ISS
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	ISS	21512138
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEP	12420222
GO:0071347	Process	Cellular response to interleukin-1	IEP	20079164
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IEA
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	ISS	21512138
GO:0071504	Process	Cellular response to heparin	IEA
GO:0071504	Process	Cellular response to heparin	ISS	21512138
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	21401405
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0071599	Process	Otic vesicle development	IEA
GO:0071773	Process	Cellular response to BMP stimulus	ISS
GO:0072034	Process	Renal vesicle induction	IEA
GO:0072034	Process	Renal vesicle induction	ISS
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072170	Process	Metanephric tubule development	IEA
GO:0072189	Process	Ureter development	IEA
GO:0072190	Process	Ureter urothelium development	IEA
GO:0072193	Process	Ureter smooth muscle cell differentiation	IEA
GO:0072197	Process	Ureter morphogenesis	IEA
GO:0072289	Process	Metanephric nephron tubule formation	IEA
GO:0072289	Process	Metanephric nephron tubule formation	ISS
GO:0085029	Process	Extracellular matrix assembly	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090103	Process	Cochlea morphogenesis	ISS
GO:0090184	Process	Positive regulation of kidney development	IEA
GO:0090184	Process	Positive regulation of kidney development	ISS
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0097065	Process	Anterior head development	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:0097157	Function	Pre-mRNA intronic binding	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:1901203	Process	Positive regulation of extracellular matrix assembly	IEA
GO:1902732	Process	Positive regulation of chondrocyte proliferation	IDA	29503843
GO:1902894	Process	Negative regulation of miRNA transcription	IDA	26687115
GO:1904864	Process	Negative regulation of beta-catenin-TCF complex assembly	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000020	Process	Positive regulation of male gonad development	IDA	21412441
GO:2000138	Process	Positive regulation of cell proliferation involved in heart morphogenesis	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2000741	Process	Positive regulation of mesenchymal stem cell differentiation	IDA	21401405
GO:2000794	Process	Regulation of epithelial cell proliferation involved in lung morphogenesis	IEA
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	IEA

Other IDs

• MIM: 608160
• HGNC: 11204
• e!Ensembl: ENSG00000125398

Protein

• UniProt ID: P48436
• Protein name: Transcription factor SOX-9
• Protein function: Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes import
• PDB: 4EUW
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12444	Sox_N	21 → 94	Sox developmental protein N terminal	Family
  PF00505	HMG_box	105 → 173	HMG (high mobility group) box	Domain

• Sequence:

  MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDL
  KKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAAR
  RKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRK
  SVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTT
  PKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPP
  NGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPP
  QPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAY
  SPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPI
  ADTSGVPSIPQTHSPQHWEQPVYTQLTRP

• Sequence length: 509

Pathways

KEGG:

cAMP signaling pathway

Reactome:

Deactivation of the beta-catenin transactivating complex
Transcriptional regulation by RUNX2

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
ACAMPOMELIC CAMPOMELIC DYSPLASIA	Pathogenic	rs104894647, rs28940282, rs137853128	RCV000002618 RCV000002620 RCV000002621	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bent bone dysplasia	Likely pathogenic	rs2143240377	RCV001842229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	Likely pathogenic; Pathogenic	rs1274036689, rs2143251627, rs587776541, rs80338688, rs1598175249, rs137853130, rs1598176785, rs866706988, rs759597531	RCV000002613 RCV000002614 RCV000002616 RCV000002617 RCV000002619 RCV000002624 RCV000002626 RCV000853284 RCV000853297	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Camptomelic dysplasia	Likely pathogenic; Pathogenic	rs2143241065, rs2143254357, rs2143246033, rs2143245422, rs2143240089, rs2143237315, rs2143240579, rs2143246628, rs2143239754, rs1555629170, rs2143239047, rs866706988, rs2143240113, rs2143250007, rs2143238589, rs104894647, rs2509625913, rs1480235826, rs1274036689, rs587776541, rs80338688, rs2509623048, rs137853129, rs137853130, rs1598176785, rs1908139210, rs2143245214, rs2509624417, rs2143247486, rs2509623396, rs1555629158, rs2143247529, rs2143251369, rs886041242, rs2509624644, rs2143239964, rs1296808008, rs2509627128, rs2143247518, rs2509624560, rs2509626302, rs2509627503, rs1131691554, rs1057518216, rs1057518669, rs1555629022, rs1555629037, rs1555629443, rs1339655148, rs1567910689, rs1324081394, rs1598176852, rs1341243329, rs1908142618, rs1908098789	RCV001378492 RCV001383642 RCV001788518 RCV003497923 RCV003497930 RCV001785009 RCV001808082 RCV001999779 RCV001926346 RCV001960726 RCV001949417 RCV002030505 RCV002029596 RCV002086750 RCV002272894 RCV002273153 RCV002290308 RCV000002612 RCV002512682 RCV000002615 RCV000020283 RCV003497831 RCV000002622 RCV000002623 RCV001851587 RCV000002625 RCV003064487 RCV003041323 RCV002814459 RCV002833543 RCV002908089 RCV002903248 RCV002918289 RCV003017271 RCV003131563 RCV005252848 RCV003326707 RCV003333600 RCV003498203 RCV003498290 RCV003497337 RCV003604670 RCV003604508 RCV003869817 RCV000020282 RCV005102005 RCV000559431 RCV000415154 RCV001378337 RCV000531068 RCV000543112 RCV000578438 RCV000578277 RCV002530370 RCV000677668 RCV000754788 RCV000853396 RCV000853398 RCV000853397 RCV001219584 RCV001249774 RCV001267683 RCV001329809	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colorectal cancer	Pathogenic	rs1567911132	RCV001293847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic; Pathogenic	rs2143254539, rs2143257416, rs2143236734, rs80338688	RCV002278807 RCV002278808 RCV002278811 RCV002276527	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Likely pathogenic	rs1555629169	RCV006273844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SOX9-related disorder	Likely pathogenic; Pathogenic	rs2143239847, rs2509622985, rs2509626553, rs2509626122, rs2143251066, rs2509626414, rs2509622714, rs1425166755	RCV004753359 RCV003391310 RCV003397417 RCV003391591 RCV003414391 RCV003902203 RCV003901928 RCV003424192	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY COMPLETE GONADAL DYSGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY PARTIAL GONADAL DYSGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANONYCHIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANONYCHIA CONGENITA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	—	CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet CTD, ClinGen, Disgenet, GWAS catalog, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HAND DEFORMITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COOKS SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWYER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XX Disorders of Sex Development	46, XX Disorders of Sex Development	BEFREE	25351776, 25604083, 25900885		★☆☆☆☆ Found in Text Mining only
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	BEFREE	10588843, 18391513, 20082466, 24149105, 25604083, 25900885, 26260363		★☆☆☆☆ Found in Text Mining only
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	ORPHANET_DG	24140641		★☆☆☆☆ Found in Text Mining only
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	21412441, 22051515, 24905461, 24934569, 25604083, 27798415, 27989796, 30067310, 30552336		★☆☆☆☆ Found in Text Mining only
46,XX ovotesticular disorder of sex development	46, XX ovotesticular disorder of sex development	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XX testicular disorder of sex development	46, XX Gonadal Sex Reversal	Orphanet			★☆☆☆☆ Found in Text Mining only
46,XY complete gonadal dysgenesis	46, XY complete gonadal dysgenesis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	22051515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acampomelic Campomelic Dysplasia	Acampomelic Campomelic Dysplasia	BEFREE	10951468, 15717285, 20453475, 21890680, 21962881, 23648064, 26663529, 28085555, 30146478		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acampomelic Campomelic Dysplasia	Acampomelic Campomelic Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acampomelic Campomelic Dysplasia	Acampomelic Campomelic Dysplasia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acne	Acne	BEFREE	27771230		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	27771230		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	29532564		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20301211, 21861142, 29955144		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	23536563		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20651055, 25004243, 26935152		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	30814526		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	21995959, 24127567		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	23769888		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	29158570		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	21193222		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18577562, 22624711, 27625374		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	31469182		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	21962881, 26663529, 30146478		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28336567, 28960306		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	17935617, 27061379, 27404036, 28815373, 29415896, 30861996		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	30787423		★☆☆☆☆ Found in Text Mining only
Ankylosis	Ankylosis	Pubtator	34826571	Associate	★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	CTD_human_DG	19639023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	25336113, 26578390, 29059173, 30357576		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	26578390	Associate	★☆☆☆☆ Found in Text Mining only
Anterior Cruciate Ligament Injuries	Anterior cruciate ligament injury	Pubtator	23686683	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27089918		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	24665126		★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	26634652		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	24098470		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	36809926	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29777903, 30241919		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18302252	Stimulate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	30036562		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	20868653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	21962881, 26663529, 30146478		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	40521686	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	20138038		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25412842, 30814526	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	28248814, 28572084, 30814526		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	18333897		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30675295		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	24658905		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	30358741	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	21931375		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18087279, 28118628		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	LHGDN	18087279		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	20863401	Associate	★☆☆☆☆ Found in Text Mining only
Bone Neoplasms	Bone neoplasm	Pubtator	22766796	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18577562		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	18577562	Associate	★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	16791471		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12420222, 21084857, 22385965, 22971267, 23306204, 26167915, 28507152, 29121666, 29970901, 30206184, 30272349, 30622340, 30658681, 31690584, 31690832		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18628953, 21321311, 26167915, 27991928, 28507152, 29970901, 30622340, 31690584, 31690832, 34922480, 35779228, 36696357, 38233470	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	32188274, 36809926, 38179698	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	10213041, 10364523, 10588843, 10951468, 11076045, 11223854, 11323423, 11371614, 11807034, 12128229, 12783851, 15717285, 15726498, 15806394, 17204049, 17352389, 17409199, 17551083, 19033726, 19449405, 19473998, 20513132, 20838034, 20977730, 21212101, 21237710, 21284335, 21309066, 22102413, 22529047, 23551858, 23564514, 24115316, 24254229, 24934569, 25604083, 25896205, 25940622, 26059046, 26631621, 26663529, 27128146, 28085555, 28166224, 28323209, 28546996, 28965976, 31389106, 7485151, 7704017, 8001137, 8566951, 8570691, 8640233, 8880588, 8894698, 8930416, 9002675, 9059565, 9121483, 9678706, 9724758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	UNIPROT_DG	10446171, 10951468, 11323423, 11754051, 12783851, 19033726, 19921652, 20513132, 24038782, 7485151, 9002675, 9452059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Campomelic Dysplasia	Campomelic dysplasia	Pubtator	12128229, 15726498, 17185244, 17551083, 20812307, 21218044, 21890680, 23648064, 26432670, 28040117, 28085555, 29695406, 29921221, 30012910, 31194875, 31389106, 36672963, 7485151, 8880588, 9002675, 9678706	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	LHGDN	12783851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	GENOMICS_ENGLAND_DG	12783851, 24704791, 30712880, 8894698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	ORPHANET_DG	22051515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Campomelic dysplasia	Campomelic Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	BEFREE	17185244		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	28118628		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23146920, 24188461, 24631504, 29364496, 29575536, 33941222	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	25228975, 26009899, 28664941, 29452147, 29703178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	38233470	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	21321311, 30814526	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22515642, 23178713, 28764740, 29121666, 32024555, 33112555, 35038357, 37328795	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31402556	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	30132562	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	23752191	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	34331569	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18087279, 28118628		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20651055, 22385677, 25004243, 27262401, 27906963, 29138807, 29212230, 30070325, 31221478, 31658996		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	23146920, 23201164, 34163029	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26097571, 34716619	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25593302	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	26095047		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24661907, 30537410		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	23618358		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	38200556	Stimulate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	17195218, 17935617, 18705695, 23225119, 26162802, 26973327, 29374435, 36799502	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	26123554, 27428952	Inhibit	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage Diseases	BEFREE	27128146		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	28664941		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	28664941	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29402816, 29425963		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23064448, 25310288, 26036262, 29099271, 31488892		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23064448, 25310288, 26036262, 29099271, 31298315		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	21193222		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18577562, 22624711, 27625374		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30420613, 34608257, 35550144	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	30501048		★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	BEFREE	21078438, 28557595		★☆☆☆☆ Found in Text Mining only
Chondroblastoma	Chondroblastoma	Pubtator	21078438	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	29044189	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12115562, 12681949, 25145279, 26317788, 27522523, 28485543, 29044189, 31406254		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	LHGDN	17935617		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	18820665, 20039424	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	29044189	Inhibit	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	18820665, 28606919, 36804377, 37024492	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	28606919		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29050313		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25186548		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	26709788, 29109128		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	21890680		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	32703248	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15781631, 21297661, 23583560, 25994220, 26009899, 31092563, 31111874		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	15781631, 29901772, 29955144, 33428592, 36181111	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	21995959, 26980019		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19019766, 22246670, 23583560, 24127567, 24240588, 24631504, 26040697, 27248473, 27429045, 27571710, 28007600, 28118628, 28452345, 28988015, 29162839, 30285605, 30672027, 31092563, 31671847		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	19019766		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22810696, 23583560, 23900217, 24240588, 24631504, 26040697, 27248473, 27463018, 27571710, 28675510, 29575536, 29843204, 31127692, 34959120, 36159794, 36369902, 36423688, 37189003	Associate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	35805171	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	26709788		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	21212101		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	21212101		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	24658905		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17204049, 20453475, 25940622, 7485151		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	23254326, 24704791, 28559980		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	25580681		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	30420613	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hand Deformities	Congenital anomaly of the hand	CTD_human_DG	19639023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	BEFREE	24115316		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	21212101		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28118628, 29344205		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	24115316		★☆☆☆☆ Found in Text Mining only
Cranioectodermal Dysplasia	Craniodiaphyseal dysplasia	Pubtator	29921221	Associate	★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	29921221, 32991838	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	8930416		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	29158570		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	29158570	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19637360	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Fibrous Histiocytoma	Fibrous Histiocytoma	BEFREE	31567275		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17195218, 17935617, 17968906, 18550917, 19103633, 19723327, 21506092, 21728837, 22484373, 23225119, 25525593, 26162802, 26969024, 27155399, 27428952, 27739057, 28805694, 29457374, 29559252, 29753378, 30057417, 30140415, 30813126, 30957437, 30968404, 31042308, 31486753, 31496660		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	17615267		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	31758376		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	25902485		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	23349860		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27622494	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24298056		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29415896	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29472102	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29415896, 30130742		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	30132562	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	21412441, 24003159, 24907458, 36631813, 9002675	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	21412441, 24351654, 25351776, 25900885, 29219112, 34112222	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	26097571	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	30357576		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	Pubtator	30465885	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	33736633	Associate	★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	BEFREE	21682576		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10951468, 12161603, 15754354, 17352389, 19921652, 25983619, 28965976, 7485151, 7666392, 9066880, 9452059		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	25902485		★☆☆☆☆ Found in Text Mining only
Enchondroma	Enchondroma	BEFREE	29044189		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	28507152	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22698986, 27262401		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	39888143	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29357938, 30496412		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29357938	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	18577562		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24906622, 31600529		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24906622, 31600529		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29936467, 30401982	Associate	★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	8001137		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	30102978		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30463916		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28285099, 29109128, 30559459, 31383909, 31469182		★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Frasier Syndrome	BEFREE	18271004		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	27079437, 27569216		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25770425, 26878385, 29149419, 29495977, 29749469, 31360068, 31433983		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29495977, 37551745	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25770425, 26878385, 29149419, 29495977, 29749469, 31360068, 31433983		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19543319, 25716338, 26617720, 26878385, 27736002, 27911279, 29416606, 29749469, 29765228, 30358223, 31713817		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19543319, 26617720, 27589569, 27736002, 34556140, 35562901	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24704791		★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	BEFREE	17551083		★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	20838034, 30893644, 9002675		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	ORPHANET_DG	22051515		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	22441105, 26663529, 9002675		★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	19513096, 21682576, 25860218		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	26325413	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30465885	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23548270		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	35218327	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	26709788	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	31959131	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	17409199		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	29345755		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	26432670		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24604230		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	33683746	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytoma, Angiomatoid Fibrous	Histiocytoma	BEFREE	31567275		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	29695406	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	20395670		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24914941, 30759730		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	36102151	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	BEFREE	23133399		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	32790806	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	34143208	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	35805171	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	26432670	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	30002128		★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	27989796, 30565690		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17537234, 17640365, 36810326, 37108698	Stimulate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	21653197	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	19637360, 26764183	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24704791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	26663529		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	12698117, 22152608, 24691466, 29651107, 31631036		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	25966142, 29651107, 30130742, 37555796	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36267810	Inhibit	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30130742		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	37890493	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	26527802, 27429045		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	30132562		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	29545603, 30420613, 31128214		★☆☆☆☆ Found in Text Mining only
Isolated Pierre Robin syndrome	Pierre-Robin Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Jarcho-Levin syndrome	Jarcho-Levin Syndrome	BEFREE	19129173		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28285099, 29050313, 29107072, 31813250		★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	30765281		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	BEFREE	29387248		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31492897	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31492897		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22515642, 23175466, 25580681, 27352352, 27545991, 29121666, 29545603, 30098428, 30262419, 30962696, 31402556, 31698267, 31701846		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	26709788, 29109128		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	39622395	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	29248458	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25387814	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	31651102	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22385677, 30070325	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	26387547, 27906963, 29660200, 31658996	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	26167915		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21321311, 29703178	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29936467	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	28965976		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	25880836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	25716338		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23548270		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12420222, 21084857, 22385965, 22971267, 23306204, 26167915, 28507152, 29121666, 29970901, 30206184, 30272349, 30622340, 30658681, 31690584, 31690832		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27262401		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24906622, 31600529		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20651055, 22385677, 25004243, 27262401, 27906963, 29138807, 29212230, 30070325, 31221478, 31658996		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24661907, 30537410		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24302456, 25336113, 25623042, 28984791, 29059173		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of penis	Penile cancer	BEFREE	28118628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15077158, 17234760, 18339840, 20103652, 22665440, 22703285, 22761195, 23426182, 23727861, 26030748, 27043282, 30675295, 31027362		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	22005013, 22331131, 27569216, 30154451, 30287498, 30572738, 31275454, 31289532, 31364116, 31796534		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28277188		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18087279, 28118628		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20651055, 21237710, 21512138, 21861142, 22331131, 22761195, 25004243, 25197350, 25632159, 25885555, 26095047, 26527802, 27569216, 27589569, 27625374, 28013293, 28118628, 28277188, 28606919, 28912540, 29099271, 29121666, 29138807, 29138830, 29348895, 29689273, 29885401, 29906246, 30132562, 30321514, 30420613, 30622340, 30833074, 31057614, 31658996, 31786684		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	20049725, 21193222, 21196210		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23064448, 25310288, 26036262, 29099271		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21297661, 23583560, 25994220, 26009899, 31092563, 31111874		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12420222, 18628953		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	30622340		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	21603610		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	18577562, 20062081, 22624711, 27625374		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	18577562	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18923447, 19273910, 20444197, 24086527, 25629959, 25885555, 30642390		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18923447, 19845757, 24086527, 26885752	Associate	★☆☆☆☆ Found in Text Mining only
Mesenchymal Chondrosarcoma	Mesenchymal Chondrosarcoma	LHGDN	12673561		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36267810	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	24418153	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28742067		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	31310588		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26482047		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35700516	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	31365937		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18087279, 18339840, 20049725, 20103652, 20301211, 20395670, 20651055, 21193222, 21682576, 21931375, 21999571, 22246670, 22331131, 22515642, 23426182, 23536563, 23583560, 23752191, 23769888, 24302456, 24451080, 24661907, 25632159, 25994220, 26009899, 26030748, 26036262, 26384302, 26501866, 26935152, 27043282, 27161333, 27248473, 27429045, 27543943, 27569216, 27571710, 27589569, 27680978, 28004116, 28118628, 28764740, 28912540, 28988015, 29158570, 29245941, 29348895, 29364496, 29587675, 29622466, 29896925, 30102978, 30272349, 30467425, 30542495, 31057614, 31092563, 31128214, 31360068, 31402556, 31567275, 31713817, 31758376		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	17525254, 30201496		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29533783		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	20049725, 21193222		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	20049725, 21193222		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	20049725, 21193222		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	32590748	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22385677, 25400731, 25550787, 28004116, 28147312, 29138830, 29245941, 29896925, 29928377, 31060551, 31079325, 31541993, 31658996		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	23752191		★☆☆☆☆ Found in Text Mining only
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	Ossification Of The Posterior Longitudinal Ligament Of Spine	BEFREE	21210088		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	16735197, 27155399, 28805694	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	17935617, 19723327, 23225119, 25073093, 26162802, 27072078, 29328479, 29929979, 30465885, 30813126, 36614257, 37935325, 39342381	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26123554, 26973327, 27428952, 31042308	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Osteoarthritis	Pubtator	23225119, 38200556	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	33610183	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	23225119		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	27118120, 30899364		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	12128229, 28263186		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26059046		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31732751		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	31732751		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24188461, 24989927, 25197350, 28123165, 29364496, 35929504	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25197350, 27138764, 28123165, 28552607, 29689273, 30257395, 30542495, 30984551, 31765229		★☆☆☆☆ Found in Text Mining only
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	17532558, 24661907, 30537410, 30904337		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31358529, 32076467, 37468993, 37628927	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24302456, 25336113, 25623042, 28984791, 29059173		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23201164, 25336113, 25632159, 28064441, 29059173		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	30357576		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12128229, 24418153, 28356064, 30814526, 34163029, 34675409, 35227293, 40141294	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29532564		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	28277188		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26097571	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	25632159		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	27989796, 30565690		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	29621359		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	BEFREE	17551083, 19234473, 19473998, 22529047, 23532965, 24115316, 24363063, 24704791, 24934569, 26059046, 26663529, 28068523, 28085555		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	ORPHANET_DG	19234473, 24934569		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	CTD_human_DG	19234473		★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	GENOMICS_ENGLAND_DG	30712880, 8894698		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	33736633	Associate	★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	21193222		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15077158, 17234760, 18339840, 20103652, 22665440, 22703285, 22761195, 23426182, 23727861, 26030748, 27043282, 30675295, 31027362		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	20103652		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15077158, 20103652		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17234760		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22665440, 26030748, 27798103	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	23349860, 28085489		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29915320	Associate	★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	21212101		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28118628, 29344205		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29158184		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	35867756	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	26501866	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	21193222		★☆☆☆☆ Found in Text Mining only
Sarcoma, Spindle Cell	Sarcoma	BEFREE	21193222		★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	37844870	Stimulate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	24023777	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	31549955		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sertoli Cell Tumor	Sertoli Cell Tumor	LHGDN	17197889		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	19449405, 21129722, 21412441, 22051515, 24115316, 24758178, 24934569, 25351776, 25604083, 25900885, 27089505, 27989796, 28094446, 29673731, 30067310, 30552336, 30999977, 31220175		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	12128229, 28263186		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	29771405	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29771405		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	LHGDN	18333897		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26387547	Associate	★☆☆☆☆ Found in Text Mining only
Small intestine carcinoma	Small Intestinal Carcinoma	BEFREE	28664941		★☆☆☆☆ Found in Text Mining only
SMALL PATELLA SYNDROME	SMALL PATELLA SYNDROME	BEFREE	24038782		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	31567275		★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	34826571	Associate	★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	28263186		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23064448, 23349860, 29936467, 30132562		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26384302, 27680978, 29237490, 29936467, 30401982, 31600529		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30132562, 33723940, 34285085	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20301211, 21861142, 22005013, 22331131, 27569216, 30154451, 30287498, 30572738, 31115004, 31275454, 31289532, 31364116, 31796534		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27880941, 29587675, 29703178, 30227327, 31275454, 31364116, 32277152, 33639844, 34455762, 35221802	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	30287498	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30760287	Associate	★☆☆☆☆ Found in Text Mining only
Swyer Syndrome	Swyer Syndrome	ORPHANET_DG	22051515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Swyer Syndrome	Swyer Syndrome	BEFREE	9002675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Diseases	Testicular Diseases	BEFREE	27089505, 28496037		★☆☆☆☆ Found in Text Mining only
Testicular dysgenesis	Testicular dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28277188	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28277188		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28277188		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	28277188, 30272326	Associate	★☆☆☆☆ Found in Text Mining only
Tracheobronchomalacia	Tracheobronchomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	BEFREE	28965976		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37179317	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38233470	Stimulate	★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	ORPHANET_DG	22051515		★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	28013293		★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	26980019		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	20838034, 30893644, 9002675		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	25880836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	11371614, 23532965		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18087279	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Anomalies	Uterine Anomalies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Carcinosarcoma	Endometrial Cancer	BEFREE	26841870		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	26036262		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29099271, 31488892	Associate	★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	30998689	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	26418500	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	23352489		★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	31044535		★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	30002128		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	11423552, 27193292	Associate	★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	10684944		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30671724	Associate	★☆☆☆☆ Found in Text Mining only
XX males	XX Males	BEFREE	17986281, 22678921		★☆☆☆☆ Found in Text Mining only
XX males	XX Males	ORPHANET_DG	24140641		★☆☆☆☆ Found in Text Mining only