Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6662
Gene name	SRY-box transcription factor 9
Gene symbol	SOX9
Synonyms (NCBI Gene)	CMD1CMPD1ENH13SRA1SRXX2SRXY10TESTESCO
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

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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

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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 assayqRT-PCRWestern blot	23178713
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayqRT-PCRWestern 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 assayWestern blot	23752191
MIRT053113	hsa-miR-140-5p	Luciferase reporter assayWestern blot	23752191
MIRT053231	hsa-miR-495-3p	Luciferase reporter assayMicroarrayqRT-PCRWestern blotsafranin o staining/GAGs contents assay	24654627
MIRT053648	hsa-miR-145-5p	Microarray	22942087
MIRT053648	hsa-miR-145-5p	FlowLuciferase reporter assayqRT-PCRWestern blot	23814265
MIRT053648	hsa-miR-145-5p	FlowLuciferase reporter assayqRT-PCRWestern blot	23814265
MIRT053648	hsa-miR-145-5p	FlowLuciferase reporter assayqRT-PCRWestern blot	23814265
MIRT053648	hsa-miR-145-5p	FlowLuciferase reporter assayqRT-PCRWestern blot	23814265
MIRT437486	hsa-miR-1247-5p	Luciferase reporter assayqRT-PCRWestern 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 assayWestern blotImmunofluorescence	25145279
MIRT007091	hsa-miR-101-3p	Microarray	28416776
MIRT007091	hsa-miR-101-3p	Western blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT007091	hsa-miR-101-3p	Luciferase reporter assayWestern blot	28147312
MIRT053648	hsa-miR-145-5p	Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	33734580
MIRT053648	hsa-miR-145-5p	Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	33734580
MIRT733554	hsa-miR-30a-5p	Immunohistochemistry (IHC)RNA-seqqRT-PCR	31506771
MIRT733735	hsa-miR-582-3p	Immunohistochemistry (IHC)	33510968
MIRT733951	hsa-miR-139-5p	Immunohistochemistry (IHC)Luciferase reporter assayWestern blotting	32343928
MIRT734586	hsa-miR-30d-3p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)ImmunofluorescenceqRT-PCR	32488851
MIRT735043	hsa-miR-9-3p	Western blottingImmunohistochemistry (IHC)qRT-PCR	32979863
MIRT000360	hsa-miR-124-3p	Western blottingImmunohistochemistry (IHC)qRT-PCR	32979863
MIRT735387	hsa-miR-583	Luciferase reporter assayWestern blottingqRT-PCRIn situ hybridization	33437631
MIRT735388	hsa-miR-520f-3p	Western blottingqRT-PCR	32277152
MIRT735761	hsa-miR-30a-3p	Luciferase reporter assayWestern blottingImmunofluorescenceqRT-PCRFlow cytometry	31807153
MIRT736084	hsa-miR-145-3p	Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry	31602220
MIRT736084	hsa-miR-145-3p	Luciferase reporter assayWestern blottingqRT-PCRFlow 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 assayWestern blottingqRT-PCR	31538724
MIRT736909	hsa-miR-431-5p	Luciferase reporter assayWestern blottingqRT-PCRFlow 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 assayRNA-seqImmunofluorescence	36724256
MIRT755970	hsa-miR-432-5p	Luciferase reporter assayWestern blottingqRT-PCRImmunofluorescenceFlow cytometry	37555796
MIRT756411	hsa-miR-134-3p	Luciferase reporter assayWestern blottingqRT-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

Show/Hide all (8)

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

266

Show/Hide all (266)

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

MIM	HGNC	e!Ensembl
608160	11204	ENSG00000125398

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

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway		Deactivation of the beta-catenin transactivating complex Transcriptional regulation by RUNX2

371

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ACAMPOMELIC CAMPOMELIC DYSPLASIA	Pathogenic	rs104894647, rs28940282, rs137853128	RCV000002618 RCV000002620 RCV000002621
Bent bone dysplasia	Likely pathogenic	rs2143240377	RCV001842229
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
Camptomelic dysplasia	Likely pathogenic; Pathogenic	rs2143241065, rs2143254357, rs2143246033, rs2143245422, rs2143240089, rs2143237315, rs2143240579, rs2143246628, rs2143239754, rs1555629170, rs2143239047, rs866706988, rs2143240113, rs2143250007, rs2143238589 View all (40 more)	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
Colorectal cancer	Pathogenic	rs1567911132	RCV001293847
Connective tissue disorder	Likely pathogenic; Pathogenic	rs2143254539, rs2143257416, rs2143236734, rs80338688	RCV002278807 RCV002278808 RCV002278811 RCV002276527
Neoplasm	Likely pathogenic	rs1555629169	RCV006273844
See cases	Likely pathogenic; Pathogenic	rs866706988	RCV004584402
SOX9-related disorder	Likely pathogenic; Pathogenic	rs2143239847, rs2509622985, rs2509626553, rs2509626122, rs2143251066, rs2509626414, rs2509622714, rs1425166755	RCV004753359 RCV003391310 RCV003397417 RCV003391591 RCV003414391 RCV003902203 RCV003901928 RCV003424192

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Intellectual disability	Benign	rs759320911	RCV005626775
Lung cancer	-	rs116826102	RCV006124978
Prostate cancer	Uncertain significance	rs193920972	RCV000148999

Show/Hide Text Mining Associations (220)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Disorders of Sex Development	Associate	25351776, 25900885, 31476840, 34050715
46 XX Testicular Disorders of Sex Development	Associate	17185244, 25900885, 28085555, 29371155, 34050715, 7485151, 8880588, 9002675
46 XY female	Associate	34112222
Achondrogenesis type 2	Stimulate	32790806
Acne Vulgaris	Associate	29771405
Adenocarcinoma	Associate	29522538, 35328735
Adenocarcinoma of Lung	Associate	37919693
Adenoma	Associate	26317775, 29575536
Ankylosis	Associate	34826571
Anophthalmia with pulmonary hypoplasia	Associate	26578390
Anterior Cruciate Ligament Injuries	Associate	23686683
Aortic Valve Stenosis	Associate	36809926
Arthritis Rheumatoid	Stimulate	18302252
Azoospermia	Associate	40521686
Barrett Esophagus	Associate	25412842, 30814526
Basaloid Follicular Hamartoma Syndrome Generalized Autosomal Dominant	Associate	35972041
Biliary Atresia	Associate	30358741
Bone Cysts	Associate	26241776
Bone Diseases	Associate	20863401
Bone Malalignment	Inhibit	33025801
Bone Neoplasms	Associate	22766796
Brain Neoplasms	Associate	18577562
Breast Neoplasms	Associate	18628953, 21321311, 26167915, 27991928, 28507152, 29970901, 30622340, 31690584, 31690832, 34922480, 35779228, 36696357, 38233470
Bursitis	Associate	36008780
Calcinosis	Associate	32188274, 36809926, 38179698
Calcinosis Cutis	Associate	28356064, 36920782
Campomelic Dysplasia	Associate	12128229, 15726498, 17185244, 17551083, 20812307, 21218044, 21890680, 23648064, 26432670, 28040117, 28085555, 29695406, 29921221, 30012910, 31194875 View all (6 more)
Cancer Familial with In Vitro Radioresistance	Associate	23433069
Carcinogenesis	Associate	23146920, 24188461, 24631504, 29364496, 29575536, 33941222
Carcinoma Basal Cell	Associate	38233470
Carcinoma Ductal	Associate	21321311, 30814526
Carcinoma Hepatocellular	Associate	22515642, 23178713, 28764740, 29121666, 32024555, 33112555, 35038357, 37328795
Carcinoma Hepatocellular	Stimulate	31402556
Carcinoma in Situ	Associate	30132562
Carcinoma Intraductal Noninfiltrating	Associate	23752191
Carcinoma Merkel Cell	Associate	34331569
Carcinoma Non Small Cell Lung	Stimulate	22385677
Carcinoma Non Small Cell Lung	Associate	29138830, 30845377, 31658996, 32197208, 35840806
Carcinoma Pancreatic Ductal	Associate	23146920, 23201164, 34163029
Carcinoma Renal Cell	Associate	26097571, 34716619
Carcinoma Squamous Cell	Associate	25593302
Cardiomyopathy Hypertrophic	Stimulate	38200556
Cartilage Diseases	Associate	17195218, 17935617, 18705695, 23225119, 26162802, 26973327, 29374435, 36799502
Cartilage Diseases	Inhibit	26123554, 27428952
Celiac Disease	Associate	28664941
Cholangiocarcinoma	Associate	30420613, 34608257, 35550144
Chondroblastoma	Stimulate	21078438
Chondroma	Associate	29044189
Chondrosarcoma	Associate	18820665, 20039424
Chondrosarcoma	Inhibit	29044189
Chordoma	Associate	18820665, 28606919, 36804377, 37024492
Clubfoot	Associate	32703248
Colonic Neoplasms	Associate	15781631, 29901772, 29955144, 33428592, 36181111
Colorectal Neoplasms	Associate	22810696, 23583560, 23900217, 24240588, 24631504, 26040697, 27248473, 27463018, 27571710, 28675510, 29575536, 29843204, 31127692, 34959120, 36159794, 36369902, 36423688, 37189003 View all (3 more)
Combined Pituitary Hormone Deficiency	Associate	35805171
Congenital contractural arachnodactyly	Associate	30420613
Coxa Magna	Associate	28090537
Coxa Magna	Inhibit	37076124
Cranioectodermal Dysplasia	Associate	29921221
Craniofacial Abnormalities	Associate	29921221, 32991838
Craniopharyngioma	Associate	29158570
Crohn Disease	Associate	19637360
Cysts	Associate	37494057
Death	Stimulate	23900217
Death	Associate	9002675
Developmental Disabilities	Associate	27622494
Diabetes Mellitus	Associate	36978091
Diabetes Mellitus Type 1	Associate	29415896
Diabetes Mellitus Type 2	Associate	29472102
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	30132562
Disorder of Sex Development 46 XY	Associate	21412441, 24003159, 24907458, 36631813, 9002675
Disorders of Sex Development	Associate	21412441, 24351654, 25351776, 25900885, 29219112, 34112222
Down Syndrome	Associate	26097571
Drug Related Side Effects and Adverse Reactions	Inhibit	28606919
Dwarfism	Associate	30465885
Dwarfism Pituitary	Associate	33736633
Endocrine System Diseases	Associate	28507152
Endodermal Sinus Tumor	Associate	26076062
Endometrial Neoplasms	Associate	39888143
Endometriosis	Associate	29357938
Ependymoma	Associate	18577562
Esophageal Squamous Cell Carcinoma	Associate	29936467, 30401982
Femur Head Necrosis	Inhibit	29208853
Fetal Diseases	Associate	31299979
Fibrocartilaginous embolism	Associate	11950957, 25749011, 28427186
Fibrocartilaginous embolism	Stimulate	27075568
Fibrosis	Associate	26317775, 26709788, 36725885, 37359552
Genital Diseases Female	Associate	31488892
Genital Diseases Male	Associate	28085555
Glioblastoma	Associate	29495977, 37551745
Glioma	Associate	19543319, 26617720, 27589569, 27736002, 34556140, 35562901
Gliosis	Associate	36336030
Glycosuria Renal	Associate	36978091
Gonadoblastoma	Associate	19513096, 24907458
Granulosa Cell Tumor	Associate	26076062
Graves Ophthalmopathy	Associate	26325413
Growth Disorders	Associate	30465885
Growth Hormone Secreting Pituitary Adenoma	Stimulate	33736633
Heart Block	Associate	22665440
Heart Defects Congenital	Associate	35218327
HELLP Syndrome	Associate	37878989
Hepatitis B Chronic	Associate	26709788
Hereditary Breast and Ovarian Cancer Syndrome	Associate	31959131
Heredodegenerative Disorders Nervous System	Associate	25154783, 39256463
Hidradenitis Suppurativa	Associate	37494057
Hip Fractures	Associate	28090537
Hirschsprung Disease	Associate	33683746
Hydrocephalus	Associate	29695406
Hyperparathyroidism Primary	Associate	36102151
Hypertrophy	Stimulate	32790806
Hypertrophy	Associate	34143208
Hypogonadism	Associate	35805171
Hypophosphatasia	Associate	26432670
Hypoxia	Stimulate	17537234, 17640365, 36810326, 37108698
Infections	Stimulate	29415896
Infertility	Associate	21653197
Inflammation	Associate	29095837, 29771405, 31286562, 36725885
Inflammatory Bowel Diseases	Associate	19637360, 26764183
Intervertebral Disc Degeneration	Associate	25966142, 29651107, 30130742, 37555796
Intervertebral Disc Degeneration	Inhibit	36267810
Intestinal Diseases	Associate	37890493
Klinefelter Syndrome	Associate	40521686
Leukemia Myeloid Acute	Inhibit	31492897
Limbal Stem Cell Deficiency	Associate	23732018
Liver Cirrhosis	Associate	39622395
Liver Cirrhosis Biliary	Stimulate	29248458
Liver Diseases	Associate	25387814
Liver Failure Acute	Associate	31651102
Lung Neoplasms	Stimulate	22385677, 30070325
Lung Neoplasms	Associate	26387547, 27906963, 29660200, 31658996
Lymphangioleiomyomatosis	Associate	26167915
Lymphatic Metastasis	Associate	21321311, 29703178
Lymphatic Metastasis	Stimulate	29936467
Lymphoma Large B Cell Diffuse	Associate	34624089
Lymphoma Mantle Cell	Associate	21603610
Mast Cell Activation Disorders	Associate	39622395
Medulloblastoma	Associate	18577562
Melanoma	Associate	18923447, 19845757, 24086527, 26885752
Microsatellite Instability	Associate	23583560
Mitochondrial Diseases	Associate	36267810
Mitral Valve Insufficiency	Associate	39273357
Mitral Valve Prolapse Myxomatous 1	Stimulate	16631011
Mouth Diseases	Associate	24418153
Musculoskeletal Abnormalities	Associate	23648064
Myopathies Structural Congenital	Associate	31194875
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	23648064
Nasopharyngeal Carcinoma	Associate	35700516
Neoplasm Invasiveness	Associate	31275454
Neoplasm Metastasis	Stimulate	24188461, 31402556
Neoplasm Metastasis	Associate	26387547, 26911281, 27571710, 27991928, 29364496, 29936467, 29970901, 34163029, 34556140, 37468993, 37919693
Neoplasms	Associate	18087279, 20049725, 21603610, 21999571, 22515642, 23146920, 23732018, 23752191, 24631504, 25197350, 26040697, 26387547, 26501866, 26578390, 26617720 View all (44 more)
Neoplasms	Stimulate	23900217
Neoplasms	Inhibit	25593302
Neoplasms Cystic Mucinous and Serous	Associate	33579221
Neoplastic Syndromes Hereditary	Associate	24003159
Neural crest tumor	Associate	29434243
Neurofibroma	Associate	20049725
Neurofibrosarcoma	Associate	32590748
Neuroma Acoustic	Associate	37026948
Norrie disease	Associate	25749011
Optic Nerve Hypoplasia	Associate	36608681
Ossification of Posterior Longitudinal Ligament	Associate	32350355
Osteitis Deformans	Associate	36372390
Osteoarthritis	Stimulate	16735197, 27155399, 28805694
Osteoarthritis	Associate	17935617, 19723327, 23225119, 25073093, 26162802, 27072078, 29328479, 29929979, 30465885, 30813126, 36614257, 37935325, 39342381
Osteoarthritis	Inhibit	26123554, 26973327, 27428952, 31042308
Osteoarthritis Hip	Associate	23225119, 38200556
Osteoarthritis Knee	Associate	33610183
Osteoblastoma	Associate	21078438
Osteochondritis	Associate	33729061
Osteosarcoma	Associate	24188461, 24989927, 25197350, 28123165, 29364496, 35929504
Ovarian Neoplasms	Associate	31358529, 32076467, 37468993, 37628927
Ovotesticular Disorders of Sex Development	Associate	29219112
Pallister Killian syndrome	Associate	25329894
Pancreatic Intraductal Neoplasms	Associate	23146920
Pancreatic Intraductal Neoplasms	Inhibit	24418153
Pancreatic Neoplasms	Associate	12128229, 24418153, 28356064, 30814526, 34163029, 34675409, 35227293, 40141294
Parkinson Disease	Associate	26097571
Peripheral Nervous System Neoplasms	Inhibit	20049725
Pierre Robin Syndrome	Associate	17551083, 28085555, 32991838, 37024583
Pierre Robin Syndrome	Stimulate	36417512
Pigmentation Disorders	Associate	17702866
Pituitary Neoplasms	Associate	33736633
Plasmacytoma	Associate	32197208
Polyendocrinopathies Autoimmune	Associate	11423552
Pre Eclampsia	Associate	37878989
Prieto X linked mental retardation syndrome	Associate	37024583
Prostatic Neoplasms	Associate	22665440, 26030748, 27798103
Prostatic Neoplasms Castration Resistant	Associate	27863438
Prostatitis	Associate	26030748
Pulmonary Disease Chronic Obstructive	Associate	29915320
Rectal Diseases	Associate	37387515
Rectal Neoplasms	Associate	29622466
Renal Insufficiency Chronic	Associate	26317775
Respiratory Distress Syndrome	Associate	35506305
Retinoblastoma	Associate	35867756
Salivary Gland Adenoma Pleomorphic	Associate	26501866
Sandhaus Ben Ami syndrome	Associate	28085555, 8880588
Sclerosis	Stimulate	37844870
Scoliosis	Associate	24023777
Sexual Dysfunction Physiological	Associate	23648064, 31194875
Skin Diseases	Associate	29771405
Skull Base Neoplasms	Associate	18820665
Small Cell Lung Carcinoma	Associate	26387547
Spondylitis Ankylosing	Associate	34826571
Squamous Cell Carcinoma of Head and Neck	Associate	30132562, 33723940, 34285085
Stomach Neoplasms	Associate	27880941, 29587675, 29703178, 30227327, 31275454, 31364116, 32277152, 33639844, 34455762, 35221802
Stomach Neoplasms	Inhibit	30287498
Stroke	Associate	30760287
Tachycardia Atrioventricular Nodal Reentry	Associate	29703178
Thyroid Cancer Papillary	Stimulate	28277188
Thyroid Neoplasms	Associate	28277188, 30272326
Triple Negative Breast Neoplasms	Associate	37179317
Triple Negative Breast Neoplasms	Stimulate	38233470
Urinary Bladder Neoplasms	Associate	18087279
Uterine Cervical Neoplasms	Associate	29099271, 31488892
Varicose Veins	Associate	30998689
Vascular Calcification	Associate	26418500
Vitiligo	Associate	11423552, 27193292
Wilms Tumor	Associate	30671724

SOX9 (SRY-box transcription factor 9)