SOX5 (SRY-box transcription factor 5)

Gene

• Entrez ID: 6660
• Gene name: SRY-box transcription factor 5
• Gene symbol: SOX5
• Synonyms (NCBI Gene): L-SOX5, L-SOX5B, L-SOX5F, LAMSHF
• Chromosome: 12
• Chromosome location: 12p12.1
• Summary: This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after for

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs767241917	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs773832380	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs869025321	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs869312867	G>C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs895607185	G>A	Pathogenic	Stop gained, downstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1057518928	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1135401816	G>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1555141265	A>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555301854	TT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555307370	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1565669269	C>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1565669640	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591833159	T>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591833497	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1591833522	T>C,G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591833842	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1591908568	T>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591908609	T>C	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs1591909421	G>C	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1592099396	->G	Pathogenic	Downstream transcript variant, frameshift variant, genic downstream transcript variant, intron variant, coding sequence variant
rs1592099852	G>A	Pathogenic	3 prime UTR variant, stop gained, intron variant, coding sequence variant
rs1593090725	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000960	hsa-miR-21-5p	Western blot, Northern blot	19013014
MIRT000960	hsa-miR-21-5p	qRT-PCR	19013014
MIRT000960	hsa-miR-21-5p	Luciferase reporter assay	19013014
MIRT006327	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	22396742
MIRT006327	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	22396742
MIRT006327	hsa-miR-194-5p	Luciferase reporter assay, qRT-PCR, Western blot	22396742
MIRT016813	hsa-miR-335-5p	Microarray	18185580
MIRT023491	hsa-miR-1-3p	Microarray	18668037
MIRT028774	hsa-miR-26b-5p	Microarray	19088304
MIRT000960	hsa-miR-21-5p	Microarray	18591254
MIRT053393	hsa-miR-96-5p	Microarray	23807165
MIRT053638	hsa-miR-130a-3p	Microarray	22942087
MIRT053681	hsa-miR-181a-5p	Microarray	22942087
MIRT054894	hsa-miR-132-3p	Luciferase reporter assay, Western blot	25305446
MIRT054894	hsa-miR-132-3p	Luciferase reporter assay, Western blot	25305446
MIRT054895	hsa-miR-15a-5p	Luciferase reporter assay, Western blot	25305446
MIRT054895	hsa-miR-15a-5p	Luciferase reporter assay, Western blot	25305446
MIRT054896	hsa-miR-16-5p	Luciferase reporter assay, Western blot	25305446
MIRT054896	hsa-miR-16-5p	Luciferase reporter assay, Western blot	25305446
MIRT720548	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT720547	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT720546	hsa-miR-933	HITS-CLIP	19536157
MIRT508327	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503328	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT520979	hsa-miR-555	HITS-CLIP	21572407
MIRT503327	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503324	hsa-miR-3924	HITS-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508326	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT520979	hsa-miR-555	PAR-CLIP	20371350
MIRT573464	hsa-miR-6748-5p	PAR-CLIP	20371350
MIRT573463	hsa-miR-6793-5p	PAR-CLIP	20371350
MIRT503327	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT573462	hsa-miR-6759-5p	PAR-CLIP	20371350
MIRT508326	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT572337	hsa-miR-3529-3p	PAR-CLIP	20371350
MIRT572336	hsa-miR-4704-5p	PAR-CLIP	20371350
MIRT534099	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT534098	hsa-miR-374a-3p	PAR-CLIP	20371350
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT503324	hsa-miR-3924	PAR-CLIP	20371350
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT534099	hsa-miR-136-3p	PAR-CLIP	22012620
MIRT534098	hsa-miR-374a-3p	PAR-CLIP	22012620
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT520979	hsa-miR-555	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508326	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508326	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441399	hsa-miR-4766-5p	PAR-CLIP	22100165
MIRT441398	hsa-miR-3926	PAR-CLIP	22100165
MIRT441397	hsa-miR-548s	PAR-CLIP	22100165
MIRT441396	hsa-miR-4288	PAR-CLIP	22100165
MIRT441395	hsa-miR-632	PAR-CLIP	22100165
MIRT441394	hsa-miR-1231	PAR-CLIP	22100165
MIRT720548	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT720547	hsa-miR-4783-5p	HITS-CLIP	19536157
MIRT720546	hsa-miR-933	HITS-CLIP	19536157
MIRT508327	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503328	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT520979	hsa-miR-555	HITS-CLIP	21572407
MIRT503327	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503324	hsa-miR-3924	HITS-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT508326	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT520979	hsa-miR-555	PAR-CLIP	20371350
MIRT573464	hsa-miR-6748-5p	PAR-CLIP	20371350
MIRT573463	hsa-miR-6793-5p	PAR-CLIP	20371350
MIRT503327	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT573462	hsa-miR-6759-5p	PAR-CLIP	20371350
MIRT508326	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT572337	hsa-miR-3529-3p	PAR-CLIP	20371350
MIRT572336	hsa-miR-4704-5p	PAR-CLIP	20371350
MIRT534099	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT534098	hsa-miR-374a-3p	PAR-CLIP	20371350
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT503324	hsa-miR-3924	PAR-CLIP	20371350
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503328	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT503327	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503324	hsa-miR-3924	PAR-CLIP	21572407
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT508326	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT534099	hsa-miR-136-3p	PAR-CLIP	22012620
MIRT534098	hsa-miR-374a-3p	PAR-CLIP	22012620
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT520979	hsa-miR-555	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508326	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT508327	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT508326	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT503329	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503328	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT503327	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT503326	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT503325	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503324	hsa-miR-3924	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT441400	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441399	hsa-miR-4766-5p	PAR-CLIP	22100165
MIRT441398	hsa-miR-3926	PAR-CLIP	22100165
MIRT441397	hsa-miR-548s	PAR-CLIP	22100165
MIRT441396	hsa-miR-4288	PAR-CLIP	22100165
MIRT441395	hsa-miR-632	PAR-CLIP	22100165
MIRT441394	hsa-miR-1231	PAR-CLIP	22100165
MIRT1380639	hsa-miR-4694-5p	CLIP-seq
MIRT1380640	hsa-miR-4787-5p	CLIP-seq
MIRT1922990	hsa-miR-4773	CLIP-seq
MIRT1922991	hsa-miR-513a-3p	CLIP-seq
MIRT1922992	hsa-miR-593	CLIP-seq
MIRT1922993	hsa-miR-654-3p	CLIP-seq
MIRT1922990	hsa-miR-4773	CLIP-seq
MIRT2336923	hsa-miR-569	CLIP-seq
MIRT2394984	hsa-miR-3187-3p	CLIP-seq
MIRT2394985	hsa-miR-4252	CLIP-seq
MIRT2394986	hsa-miR-4435	CLIP-seq
MIRT2394987	hsa-miR-4490	CLIP-seq
MIRT2394988	hsa-miR-4701-5p	CLIP-seq
MIRT2394989	hsa-miR-588	CLIP-seq
MIRT2630408	hsa-miR-218	CLIP-seq
MIRT2394984	hsa-miR-3187-3p	CLIP-seq
MIRT2394985	hsa-miR-4252	CLIP-seq
MIRT2394986	hsa-miR-4435	CLIP-seq
MIRT2394987	hsa-miR-4490	CLIP-seq
MIRT2394988	hsa-miR-4701-5p	CLIP-seq
MIRT2336923	hsa-miR-569	CLIP-seq
MIRT2394989	hsa-miR-588	CLIP-seq
MIRT2630409	hsa-miR-636	CLIP-seq
MIRT2630408	hsa-miR-218	CLIP-seq
MIRT2394984	hsa-miR-3187-3p	CLIP-seq
MIRT2394985	hsa-miR-4252	CLIP-seq
MIRT2394986	hsa-miR-4435	CLIP-seq
MIRT2394987	hsa-miR-4490	CLIP-seq
MIRT2394988	hsa-miR-4701-5p	CLIP-seq
MIRT2336923	hsa-miR-569	CLIP-seq
MIRT2394989	hsa-miR-588	CLIP-seq
MIRT2630409	hsa-miR-636	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	26525805
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001502	Process	Cartilage condensation	ISS
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8812465
GO:0005515	Function	Protein binding	IPI	21262861, 22458338, 25416956, 31515488, 32296183, 32814053, 35140242
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	8812465
GO:0030154	Process	Cell differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IBA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IDA	21401405
GO:0045165	Process	Cell fate commitment	IBA
GO:0051216	Process	Cartilage development	ISS
GO:0055059	Process	Asymmetric neuroblast division	IGI	23946438
GO:0061036	Process	Positive regulation of cartilage development	IDA	21401405
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	21401405
GO:2000741	Process	Positive regulation of mesenchymal stem cell differentiation	IDA	21401405

Other IDs

• MIM: 604975
• HGNC: 11201
• e!Ensembl: ENSG00000134532

Protein

• UniProt ID: P35711
• Protein name: Transcription factor SOX-5
• Protein function: Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, includin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	556 → 624	HMG (high mobility group) box	Domain

• Sequence:

  MLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPN
  KPHSEEFQPVSLLTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQS
  GESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEETPSIEKLLSKDWKDKLLAM
  GSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMEL
  AKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLL
  PPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGI
  PQGNLGAAVSPTSIHTDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPAL
  RINSGAGPLKASVPAALASPSARVSTIGYLNDHDAVTKAIQEARQMKEQLRREQQVLDGK
  VAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDFNLSGDSDGSAGVSES
  RIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNL
  EKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYF
  NVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEP
  HIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN

• Sequence length: 763

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
Aplasia/Hypoplasia of the nails	Likely pathogenic	rs1057518845	RCV000414904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central hypotonia	Likely pathogenic	rs1057518845	RCV000414904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral visual impairment and intellectual disability	Likely pathogenic	rs869312867	RCV000210408	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Likely pathogenic	rs1057518928	RCV000414883	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized hypotonia	Likely pathogenic	rs1057518928, rs1057518845	RCV000414883 RCV000414904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1135401816, rs1420871345	RCV000857307 RCV001260816	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lamb-Shaffer syndrome	Pathogenic; Likely pathogenic	rs2136047948, rs2140907114, rs2136046122, rs2135894892, rs2136075793, rs2505486063, rs2548455186, rs2548855120, rs869025321, rs2548854465, rs2547740910, rs2547813154, rs2498146325, rs2549119118, rs773832380, rs2503278063, rs2547741003, rs1057518845, rs1135401816, rs1555141265, rs767241917, rs1555301854, rs1555307370, rs1565669640, rs1591833159, rs1591833497, rs1591833522, rs1591833842, rs1591908568, rs1591909421, rs895607185, rs1592099396, rs1592099852, rs1593090725, rs1594078334, rs1591908680, rs1940534444, rs2547813307, rs2096571436, rs2079966010, rs1942462618	RCV001542679 RCV001526654 RCV001731235 RCV002071014 RCV002246737 RCV002280374 RCV002289247 RCV002290129 RCV000207472 RCV003140594 RCV003132610 RCV003149127 RCV003152855 RCV003159539 RCV003314168 RCV003494544 RCV003592387 RCV001198297 RCV000496163 RCV000857296 RCV000656421 RCV000857291 RCV000656552 RCV000760248 RCV000857304 RCV000857303 RCV000857302 RCV000857301 RCV000857299 RCV000857297 RCV000857295 RCV000857294 RCV000857293 RCV000857292 RCV000857290 RCV003230613 RCV000995882 RCV001095675 RCV001249845 RCV001250420 RCV001258342 RCV001262570	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe global developmental delay	Likely pathogenic	rs1057518928	RCV000414883	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Likely pathogenic	rs1057518845	RCV000414904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thoracolumbar scoliosis	Likely pathogenic	rs1057518845	RCV000414904	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
12P12.1 MICRODELETION SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar CTD, GWAS catalog CTD, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AZOOSPERMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL MUCINOUS ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOARDING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, SPINE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOX5-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tourette syndrome	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERTEBRAL COLUMN DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
12p12.1 microdeletion syndrome	12p12.1 microdeletion syndrome	ORPHANET_DG	22290657		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
12p12.1 microdeletion syndrome	12p12.1 microdeletion syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29541384, 30254466, 31147293		★☆☆☆☆ Found in Text Mining only
ALZHEIMER DISEASE 2	Alzheimer disease	BEFREE	28186563		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	28186563		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28186563		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	28585545		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29424904, 32678069	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24876173		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24876173	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	20062060, 22336519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	20062060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	20062060, 25015694, 33350184	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	34833481	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	20808228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	GWASCAT_DG	22197933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia	Azoospermia	Pubtator	24303009, 32815100	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	30863997	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	24648396, 30863997		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28628119		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	22688887	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28687615		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24607904, 30854049, 31713604		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35048790	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30983072		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29541384		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21330457, 24876173		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28632999		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24393480	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	22290657	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29895198		★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	21779181		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27550416		★☆☆☆☆ Found in Text Mining only
Developmental and speech delay due to SOX5 deficiency	Developmental And Speech Delay	ORPHANET_DG	22290657		★☆☆☆☆ Found in Text Mining only
Developmental and speech delay due to SOX5 deficiency	Developmental And Speech Delay	Orphanet			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22290657	Associate	★☆☆☆☆ 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	35534828	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28585545		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	22290657, 23498568, 25847113, 28186563		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30888986	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37531195	Associate	★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28628119		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28628119		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17230535		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22688887	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23498568, 25847113, 26111154, 28186563		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	36978091	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	17537234, 32216582	Stimulate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	32815100	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	30863997, 32815100	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	22290657	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	23220431, 25847113, 26111154, 28186563, 31578471		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iron deficiency anemia	Iron deficiency anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
LAMB-SHAFFER SYNDROME	LAMB-SHAFFER SYNDROME	CLINVAR_DG	26111154		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LAMB-SHAFFER SYNDROME	LAMB-SHAFFER SYNDROME	BEFREE	29477873, 31578471		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LAMB-SHAFFER SYNDROME	LAMB-SHAFFER SYNDROME	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Language Development Disorders	Language development disorders	Pubtator	22290657	Associate	★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	31147293		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31219565		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	LHGDN	17554380		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	26115875		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29700475, 29942085, 30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	24607904, 30854049, 31713604		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29541384		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29123266, 30551470		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31040690		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29123266, 29541384, 29888108		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26927636		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26927636	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	29477873		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21152067	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18085523		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18085523, 19173284, 26046131, 26501866, 28632999, 28687615, 29541384, 29888108		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28186563		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25847113, 31578471		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	22197933		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	GWASDB_DG	22197933		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29888108, 30816573		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	24303009		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	40180173	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	16735197	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondroma	Osteochondroma	Pubtator	26043835	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	29890823		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	28365963, 30819403		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28365963	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	20062060		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	26284813		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29123266, 30551470		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19173284		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30551470	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	27810495	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24876173	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29895198		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27550416, 29042950, 29424904, 29706965		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24287731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	24287731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	BEFREE	26111154		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	LHGDN	11912161		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	27550416		★☆☆☆☆ Found in Text Mining only
Speech Delay	Speech Delay	BEFREE	25847113		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31040690		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31322222, 32216582, 33124951, 35975639	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Strabismus	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Systemic Scleroderma	Scleroderma	BEFREE	21779181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	21779181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASDB_DG	21779181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracolumbar scoliosis	Thoracolumbar scoliosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29731835		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35880568, 37862152	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	21791083	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★☆☆☆☆ Found in Text Mining only