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
• Disease Acronyms (UniProt): 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 regulatory region sequence-specific DNA binding	IDA	26525805
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001502	Process	Cartilage condensation	ISS
GO:0002062	Process	Chondrocyte differentiation	ISS
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8812465
GO:0005515	Function	Protein binding	IPI	21262861, 22458338, 25416956, 31515488
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006366	Process	Transcription by RNA polymerase II	TAS	8812465
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IBA	21873635
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IDA	21401405
GO:0045165	Process	Cell fate commitment	IBA	21873635
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

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	20062060, 30061737
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	20808228
Azoospermia	Azoospermia	rs200969445, rs144567652, rs765353898	22197933
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epileptic encephalopathy	Epileptic encephalopathy	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Lamb-shaffer syndrome	LAMB-SHAFFER SYNDROME	rs869025321, rs1057518845, rs1135401816, rs1555141265, rs767241917, rs1555301854, rs1555307370, rs1565669640, rs1591833159, rs1591833497, rs1591833522, rs1591833842, rs1591908568, rs1591909421, rs895607185, rs1592099396, rs1592099852, rs1593090725, rs1594078334, rs1591908680, rs1940534444	26111154
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Non-obstructive azoospermia	Non-obstructive azoospermia	rs587777872, rs879253743, rs1600840291, rs1600877766, rs753462162, rs1588618614, rs1602684496, rs377712900	22197933
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	26198764, 24287731
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Major Depressive Disorder		29700475, 30718901, 29942085	ClinVar
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		20062060	ClinVar
Developmental And Speech Delay	developmental and speech delay due to SOX5 deficiency			GenCC
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Neuroticism	Neuroticism			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Diabetes	Diabetes			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS
Insomnia	Insomnia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arthritis Rheumatoid	Associate	29424904, 32678069
Asthma	Associate	24876173
Atrial Fibrillation	Associate	20062060, 25015694, 33350184
Atrial Fibrillation	Inhibit	34833481
Azoospermia	Associate	24303009, 32815100
Azoospermia Nonobstructive	Associate	30863997
Brain Neoplasms	Associate	22688887
Calcinosis Cutis	Stimulate	26927636
Carcinoma Hepatocellular	Associate	35048790
Carcinoma Non Small Cell Lung	Associate	31917898
Colorectal Neoplasms	Associate	24393480
Congenital Abnormalities	Associate	22290657
Cryoglobulinemia Familial Mixed	Associate	21421840
Developmental Disabilities	Associate	22290657
Diabetes Mellitus	Associate	36978091
Diabetes Mellitus Type 1	Associate	35534828
Endometrial Neoplasms	Associate	30888986
Esophageal Squamous Cell Carcinoma	Associate	37531195
Glioma	Associate	22688887
Glycosuria Renal	Associate	36978091
Hypoxia	Stimulate	17537234, 32216582
Ichthyosis X Linked	Associate	37679009
Infertility	Associate	32815100
Infertility Male	Associate	30863997, 32815100
Inflammation	Associate	32678069
Intellectual Disability	Associate	22290657
Isodicentric Chromosome 15 Syndrome	Associate	26043835
Language Development Disorders	Associate	22290657
Melanoma	Associate	26927636
Mental Disorders	Associate	22290657, 30545854
Multiple Sclerosis	Associate	21152067
Neoplasms	Associate	26501866, 35880568
Nevus Pigmented	Associate	30359577
Oligospermia	Associate	24303009
Optic Atrophy	Associate	40180173
Optic Nerve Hypoplasia	Associate	32040484
Osteoarthritis	Stimulate	16735197
Osteochondroma	Associate	26043835
Osteosarcoma	Associate	28365963
Pediatric acute onset neuropsychiatric syndrome	Associate	30545854
Prostatic Neoplasms	Associate	30551470
Psoriasis	Associate	27810495
Pulmonary Disease Chronic Obstructive	Associate	24876173
Rectal Neoplasms	Associate	33124951
Severe Acute Respiratory Syndrome	Associate	33784440
Stomach Neoplasms	Associate	31322222, 32216582, 33124951, 35975639
Syndrome	Associate	32040484
Urinary Bladder Neoplasms	Associate	35880568, 37862152
Ventricular Dysfunction Left	Associate	21791083
Vision Disorders	Associate	26350515