COL18A1 (collagen type XVIII alpha 1 chain)

Gene

• Entrez ID: 80781
• Gene name: Collagen type XVIII alpha 1 chain
• Gene symbol: COL18A1
• Synonyms (NCBI Gene): GLCC, KNO, KNO1, KS
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs749009747	C>-,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs775168204	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs778612831	A>G	Likely-pathogenic	Splice acceptor variant
rs778909108	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786205554	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs886043809	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167359	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555870809	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1602456821	->T	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049203	hsa-miR-92a-3p	CLASH	23622248
MIRT037044	hsa-miR-877-3p	CLASH	23622248
MIRT527343	hsa-miR-4453	PAR-CLIP	22012620
MIRT527342	hsa-miR-4538	PAR-CLIP	22012620
MIRT527341	hsa-miR-6852-5p	PAR-CLIP	22012620
MIRT527340	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT527339	hsa-miR-27b-5p	PAR-CLIP	22012620
MIRT527338	hsa-miR-661	PAR-CLIP	22012620
MIRT527337	hsa-miR-1292-5p	PAR-CLIP	22012620
MIRT527336	hsa-miR-4471	PAR-CLIP	22012620
MIRT527335	hsa-miR-8059	PAR-CLIP	22012620
MIRT527334	hsa-miR-3157-5p	PAR-CLIP	22012620
MIRT527333	hsa-miR-3977	PAR-CLIP	22012620
MIRT527332	hsa-miR-450a-1-3p	PAR-CLIP	22012620
MIRT527331	hsa-miR-6749-5p	PAR-CLIP	22012620
MIRT527343	hsa-miR-4453	PAR-CLIP	22012620
MIRT527342	hsa-miR-4538	PAR-CLIP	22012620
MIRT527341	hsa-miR-6852-5p	PAR-CLIP	22012620
MIRT527340	hsa-miR-7155-5p	PAR-CLIP	22012620
MIRT527339	hsa-miR-27b-5p	PAR-CLIP	22012620
MIRT527338	hsa-miR-661	PAR-CLIP	22012620
MIRT527337	hsa-miR-1292-5p	PAR-CLIP	22012620
MIRT527336	hsa-miR-4471	PAR-CLIP	22012620
MIRT527335	hsa-miR-8059	PAR-CLIP	22012620
MIRT527334	hsa-miR-3157-5p	PAR-CLIP	22012620
MIRT527333	hsa-miR-3977	PAR-CLIP	22012620
MIRT527332	hsa-miR-450a-1-3p	PAR-CLIP	22012620
MIRT527331	hsa-miR-6749-5p	PAR-CLIP	22012620
MIRT902534	hsa-miR-1181	CLIP-seq
MIRT902535	hsa-miR-1200	CLIP-seq
MIRT902536	hsa-miR-1204	CLIP-seq
MIRT902537	hsa-miR-1234	CLIP-seq
MIRT902538	hsa-miR-1280	CLIP-seq
MIRT902539	hsa-miR-134	CLIP-seq
MIRT902540	hsa-miR-1827	CLIP-seq
MIRT902541	hsa-miR-1910	CLIP-seq
MIRT902542	hsa-miR-219-2-3p	CLIP-seq
MIRT902543	hsa-miR-23a	CLIP-seq
MIRT902544	hsa-miR-23b	CLIP-seq
MIRT902545	hsa-miR-23c	CLIP-seq
MIRT902546	hsa-miR-2861	CLIP-seq
MIRT902547	hsa-miR-2964a-3p	CLIP-seq
MIRT902548	hsa-miR-302a	CLIP-seq
MIRT902549	hsa-miR-302b	CLIP-seq
MIRT902550	hsa-miR-302c	CLIP-seq
MIRT902551	hsa-miR-302d	CLIP-seq
MIRT902552	hsa-miR-302e	CLIP-seq
MIRT902553	hsa-miR-3064-5p	CLIP-seq
MIRT902554	hsa-miR-3118	CLIP-seq
MIRT902555	hsa-miR-3120-5p	CLIP-seq
MIRT902556	hsa-miR-3136-5p	CLIP-seq
MIRT902557	hsa-miR-3141	CLIP-seq
MIRT902558	hsa-miR-3152-5p	CLIP-seq
MIRT902559	hsa-miR-3164	CLIP-seq
MIRT902560	hsa-miR-346	CLIP-seq
MIRT902561	hsa-miR-3660	CLIP-seq
MIRT902562	hsa-miR-372	CLIP-seq
MIRT902563	hsa-miR-373	CLIP-seq
MIRT902564	hsa-miR-375	CLIP-seq
MIRT902565	hsa-miR-377	CLIP-seq
MIRT902566	hsa-miR-378g	CLIP-seq
MIRT902567	hsa-miR-4265	CLIP-seq
MIRT902568	hsa-miR-4275	CLIP-seq
MIRT902569	hsa-miR-4288	CLIP-seq
MIRT902570	hsa-miR-4296	CLIP-seq
MIRT902571	hsa-miR-4317	CLIP-seq
MIRT902572	hsa-miR-4322	CLIP-seq
MIRT902573	hsa-miR-4323	CLIP-seq
MIRT902574	hsa-miR-4324	CLIP-seq
MIRT902575	hsa-miR-4417	CLIP-seq
MIRT902576	hsa-miR-4421	CLIP-seq
MIRT902577	hsa-miR-4427	CLIP-seq
MIRT902578	hsa-miR-4437	CLIP-seq
MIRT902579	hsa-miR-4439	CLIP-seq
MIRT902580	hsa-miR-4447	CLIP-seq
MIRT902581	hsa-miR-4472	CLIP-seq
MIRT902582	hsa-miR-4488	CLIP-seq
MIRT902583	hsa-miR-4513	CLIP-seq
MIRT902584	hsa-miR-4526	CLIP-seq
MIRT902585	hsa-miR-4649-3p	CLIP-seq
MIRT902586	hsa-miR-4651	CLIP-seq
MIRT902587	hsa-miR-4663	CLIP-seq
MIRT902588	hsa-miR-4674	CLIP-seq
MIRT902589	hsa-miR-4680-3p	CLIP-seq
MIRT902590	hsa-miR-4684-3p	CLIP-seq
MIRT902591	hsa-miR-4687-3p	CLIP-seq
MIRT902592	hsa-miR-4697-5p	CLIP-seq
MIRT902593	hsa-miR-4751	CLIP-seq
MIRT902594	hsa-miR-4758-3p	CLIP-seq
MIRT902595	hsa-miR-4774-3p	CLIP-seq
MIRT902596	hsa-miR-499-3p	CLIP-seq
MIRT902597	hsa-miR-499a-3p	CLIP-seq
MIRT902598	hsa-miR-512-3p	CLIP-seq
MIRT902599	hsa-miR-516a-3p	CLIP-seq
MIRT902600	hsa-miR-520a-3p	CLIP-seq
MIRT902601	hsa-miR-520b	CLIP-seq
MIRT902602	hsa-miR-520c-3p	CLIP-seq
MIRT902603	hsa-miR-520d-3p	CLIP-seq
MIRT902604	hsa-miR-520e	CLIP-seq
MIRT902605	hsa-miR-544b	CLIP-seq
MIRT902606	hsa-miR-604	CLIP-seq
MIRT902607	hsa-miR-608	CLIP-seq
MIRT902608	hsa-miR-632	CLIP-seq
MIRT902609	hsa-miR-647	CLIP-seq
MIRT902610	hsa-miR-764	CLIP-seq
MIRT902611	hsa-miR-940	CLIP-seq
MIRT902535	hsa-miR-1200	CLIP-seq
MIRT902539	hsa-miR-134	CLIP-seq
MIRT902540	hsa-miR-1827	CLIP-seq
MIRT902548	hsa-miR-302a	CLIP-seq
MIRT902549	hsa-miR-302b	CLIP-seq
MIRT902550	hsa-miR-302c	CLIP-seq
MIRT902551	hsa-miR-302d	CLIP-seq
MIRT902552	hsa-miR-302e	CLIP-seq
MIRT902553	hsa-miR-3064-5p	CLIP-seq
MIRT902554	hsa-miR-3118	CLIP-seq
MIRT902556	hsa-miR-3136-5p	CLIP-seq
MIRT902559	hsa-miR-3164	CLIP-seq
MIRT902561	hsa-miR-3660	CLIP-seq
MIRT902562	hsa-miR-372	CLIP-seq
MIRT902563	hsa-miR-373	CLIP-seq
MIRT902574	hsa-miR-4324	CLIP-seq
MIRT902579	hsa-miR-4439	CLIP-seq
MIRT902583	hsa-miR-4513	CLIP-seq
MIRT902584	hsa-miR-4526	CLIP-seq
MIRT902585	hsa-miR-4649-3p	CLIP-seq
MIRT902586	hsa-miR-4651	CLIP-seq
MIRT902587	hsa-miR-4663	CLIP-seq
MIRT902591	hsa-miR-4687-3p	CLIP-seq
MIRT902598	hsa-miR-512-3p	CLIP-seq
MIRT902600	hsa-miR-520a-3p	CLIP-seq
MIRT902601	hsa-miR-520b	CLIP-seq
MIRT902602	hsa-miR-520c-3p	CLIP-seq
MIRT902603	hsa-miR-520d-3p	CLIP-seq
MIRT902604	hsa-miR-520e	CLIP-seq
MIRT902605	hsa-miR-544b	CLIP-seq
MIRT902607	hsa-miR-608	CLIP-seq
MIRT902609	hsa-miR-647	CLIP-seq
MIRT902610	hsa-miR-764	CLIP-seq
MIRT902611	hsa-miR-940	CLIP-seq
MIRT902539	hsa-miR-134	CLIP-seq
MIRT902554	hsa-miR-3118	CLIP-seq
MIRT902556	hsa-miR-3136-5p	CLIP-seq
MIRT902559	hsa-miR-3164	CLIP-seq
MIRT902561	hsa-miR-3660	CLIP-seq
MIRT902579	hsa-miR-4439	CLIP-seq
MIRT902583	hsa-miR-4513	CLIP-seq
MIRT902584	hsa-miR-4526	CLIP-seq
MIRT902586	hsa-miR-4651	CLIP-seq
MIRT902591	hsa-miR-4687-3p	CLIP-seq
MIRT902607	hsa-miR-608	CLIP-seq
MIRT1967702	hsa-miR-3127-3p	CLIP-seq
MIRT902558	hsa-miR-3152-5p	CLIP-seq
MIRT1967703	hsa-miR-3194-5p	CLIP-seq
MIRT902567	hsa-miR-4265	CLIP-seq
MIRT1967704	hsa-miR-4283	CLIP-seq
MIRT902570	hsa-miR-4296	CLIP-seq
MIRT902572	hsa-miR-4322	CLIP-seq
MIRT902573	hsa-miR-4323	CLIP-seq
MIRT902575	hsa-miR-4417	CLIP-seq
MIRT902580	hsa-miR-4447	CLIP-seq
MIRT902581	hsa-miR-4472	CLIP-seq
MIRT902582	hsa-miR-4488	CLIP-seq
MIRT1967705	hsa-miR-4532	CLIP-seq
MIRT902587	hsa-miR-4663	CLIP-seq
MIRT1967706	hsa-miR-4691-5p	CLIP-seq
MIRT902592	hsa-miR-4697-5p	CLIP-seq
MIRT902599	hsa-miR-516a-3p	CLIP-seq
MIRT1967707	hsa-miR-615-3p	CLIP-seq
MIRT902577	hsa-miR-4427	CLIP-seq
MIRT2203525	hsa-miR-4436b-5p	CLIP-seq
MIRT902589	hsa-miR-4680-3p	CLIP-seq
MIRT902542	hsa-miR-219-2-3p	CLIP-seq
MIRT902543	hsa-miR-23a	CLIP-seq
MIRT902544	hsa-miR-23b	CLIP-seq
MIRT902545	hsa-miR-23c	CLIP-seq
MIRT902547	hsa-miR-2964a-3p	CLIP-seq
MIRT2386332	hsa-miR-3155	CLIP-seq
MIRT2386333	hsa-miR-3182	CLIP-seq
MIRT902565	hsa-miR-377	CLIP-seq
MIRT902577	hsa-miR-4427	CLIP-seq
MIRT2386334	hsa-miR-4652-3p	CLIP-seq
MIRT902589	hsa-miR-4680-3p	CLIP-seq
MIRT902596	hsa-miR-499-3p	CLIP-seq
MIRT902597	hsa-miR-499a-3p	CLIP-seq
MIRT2447433	hsa-miR-3170	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXA2	Unknown	11093745
NFIC	Unknown	11093745
SP1	Unknown	11093745

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA
GO:0001525	Process	Angiogenesis	IBA
GO:0001886	Process	Endothelial cell morphogenesis	IBA
GO:0005515	Function	Protein binding	IPI	17615292, 19542224, 19877579, 24117177
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005581	Component	Collagen trimer	TAS	10942434
GO:0005604	Component	Basement membrane	IEA
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007601	Process	Visual perception	TAS	10942434
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9008168
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10942434
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 23979707, 25037231, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27559042, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042802	Function	Identical protein binding	IPI	16269408
GO:0046872	Function	Metal ion binding	IEA
GO:0051599	Process	Response to hydrostatic pressure	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145

Other IDs

• MIM: 120328
• HGNC: 2195
• e!Ensembl: ENSG00000182871

Protein

• UniProt ID: P39060
• Protein name: Collagen alpha-1(XVIII) chain [Cleaved into: Endostatin; Non-collagenous domain 1 (NC1)]
• Protein function: Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. ; [Non-collagenous domain 1]: May regulate extracellular matrix-dependent motility and morphog
• PDB: 1BNL, 3HON, 3HSH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06121	DUF959	13 → 194	Domain of Unknown Function (DUF959)	Domain
  PF01392	Fz	334 → 440	Fz domain	Domain
  PF01391	Collagen	791 → 857	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	927 → 990	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1038 → 1096	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1070 → 1128	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1186 → 1246	Collagen triple helix repeat (20 copies)	Repeat
  PF06482	Endostatin	1443 → 1750	Collagenase NC10 and Endostatin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta (at protein level) (PubMed:32337544). Present in multiple organs with highest levels in liver, lung and kidney. {ECO:0000269|PubMed:32337544}.
• Sequence:

  MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADT
  TTHVTPRNGSTEPATAPGSPEPPSELLEDGQDTPTSAESPDAPEENIAGVGAEILNVAKG
  IRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA
  HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSGRASLSSLLGGAPPWGSLQDPDSQG
  LSPAAAAPSQQLQRPDVRLRTPLLHPLVMGSLGKHAAPSAFSSGLPGALSQVAVTTLTRD
  SGAWVSHVANSVGPGLANNSALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHH
  ESGEQVRAGARAWGGLLQTHCHPFLAWFFCLLLVPPCGSVPPPAPPPCCQFCEALQDACW
  SRLGGGRLPVACASLPTQEDGYCVLIGPAAERISEEVGLLQLLGDPPPQQVTQTDDPDVG
  LAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKL
  SGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQR
  MPLARSSRGLELEPGAGLFVAQAGGADPDKFQGVIAELKVRRDPQVSPMHCLDEEGDDSD
  GASGDSGSGLGDARELLREETGAALKPRLPAPPPVTTPPLAGGSSTEDSRSEEVEEQTTV
  ASLGAQTLPGSDSVSTWDGSVRTPGGRVKEGGLKGQKGEPGVPGPPGRAGPPGSPCLPGP
  PGLPCPVSPLGPAGPALQTVPGPQGPPGPPGRDGTPGRDGEPGDPGEDGKPGDTGPQGFP
  GTPGDVGPKGDKGDPGVGERGPPGPQGPPGPPGPSFRHDKLTFIDMEGSGFGGDLEALRG
  PRGFPGPPGPPGVPGLPGEPGRFGVNSSDVPGPAGLPGVPGREGPPGFPGLPGPPGPPGR
  EGPPGRTGQKGSLGEAGAPGHKGSKGAPGPAGARGESGLAGAPGPAGPPGPPGPPGPPGP
  GLPAGFDDMEGSGGPFWSTARSADGPQGPPGLPGLKGDPGVPGLPGAKGEVGADGVPGFP
  GLPGREGIAGPQGPKGDRGSRGEKGDPGKDGVGQPGLPGPPGPPGPVVYVSEQDGSVLSV
  PGPEGRPGFAGFPGPAGPKGNLGSKGERGSPGPKGEKGEPGSIFSPDGGALGPAQKGAKG
  EPGFRGPPGPYGRPGYKGEIGFPGRPGRPGMNGLKGEKGEPGDASLGFGMRGMPGPPGPP
  GPPGPPGTPVYDSNVFAESSRPGPPGLPGNQGPPGPKGAKGEVGPPGPPGQFPFDFLQLE
  AEMKGEKGDRGDAGQKGERGEPGGGGFFGSSLPGPPGPPGPPGPRGYPGIPGPKGESIRG
  QPGPPGPQGPPGIGYEGRQGPPGPPGPPGPPSFPGPHRQTISVPGPPGPPGPPGPPGTMG
  ASSGVRLWATRQAMLGQVHEVPEGWLIFVAEQEELYVRVQNGFRKVQLEARTPLPRGTDN
  EVAALQPPVVQLHDSNPYPRREHPHPTARPWRADDILASPPRLPEPQPYPGAPHHSSYVH
  LRPARPTSPPAHSHRDFQPVLHLVALNSPLSGGMRGIRGADFQCFQQARAVGLAGTFRAF
  LSSRLQDLYSIVRRADRAAVPIVNLKDELLFPSWEALFSGSEGPLKPGARIFSFDGKDVL
  RHPTWPQKSVWHGSDPNGRRLTESYCETWRTEAPSATGQASSLLGGRLLGQSAASCHHAY
  IVLCIENSFMTASK

• Sequence length: 1754

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Collagen degradation
Activation of Matrix Metalloproteinases
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Laminin interactions
Collagen chain trimerization

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract	Pathogenic	rs765919785, rs1057518802	RCV000414765 RCV000415261
Clear cell carcinoma of kidney	Likely pathogenic	rs776147216	RCV005927020
COL18A1-related disorder	Pathogenic	rs749541171, rs775168204	RCV004548977 RCV003335083
Cowden syndrome 1	Pathogenic	rs2037488871	RCV005861222
early onset and severe retinal dystrophy	Pathogenic	rs2036430129, rs2035308819, rs2035717418, rs2036496173, rs2037119027	RCV001270474 RCV001270476 RCV001270475 RCV001270477 RCV001270473
Hereditary glaucoma, primary closed-angle	Likely pathogenic; Pathogenic	rs753984170, rs398122391, rs2035293928, rs2035305918, rs2035718735	RCV005392659 RCV001198207 RCV001093603 RCV001093605 RCV001198460
High myopia	Pathogenic	rs765919785, rs1057518802	RCV000414765 RCV000415261
Knobloch syndrome	Likely pathogenic; Pathogenic	rs757523045, rs2145934671, rs768663340, rs1568930288, rs1467976097, rs769882681, rs770631950, rs749009747, rs1114167359, rs1555870809, rs1555860555, rs1555877107, rs113847452, rs756797124, rs771752014, rs398122391, rs775168204, rs1602667345, rs1602456821, rs2035293928, rs2035305918, rs1438060081, rs753935209, rs2037488871	RCV001420592 RCV001449800 RCV002246563 RCV002249373 RCV000018652 RCV000018654 RCV000018656 RCV000476263 RCV000490890 RCV001805122 RCV000662296 RCV000662297 RCV000761287 RCV000761494 RCV000825517 RCV000055632 RCV000055633 RCV000985046 RCV001002984 RCV001093602 RCV001093604 RCV001170052 RCV001170051 RCV001253603
Knobloch syndrome 1	Pathogenic; Likely pathogenic	rs1365450066, rs768663340, rs776238441, rs768055690, rs753824908, rs541908170, rs2036311953, rs886041437, rs753984170, rs2517795259, rs770631950, rs749009747, rs398122391, rs756223600	RCV004526158 RCV003136227 RCV002290819 RCV005409066 RCV004796065 RCV003403873 RCV003142507 RCV005869201 RCV005392659 RCV003883229 RCV004782018 RCV002289584 RCV003235024 RCV004789398
Lung cancer	Likely pathogenic	rs151228115	RCV005925487
Macular dystrophy	Pathogenic	rs398122391	RCV000504900
Melanoma	Likely pathogenic	rs894151180	RCV005931291
Nonpapillary renal cell carcinoma	Likely pathogenic	rs894151180	RCV005931290
Nystagmus	Pathogenic	rs765919785, rs1057518802	RCV000414765 RCV000415261
Retinal dystrophy	Pathogenic; Likely pathogenic	rs765919785, rs1057518802, rs778612831, rs1555870809, rs749009747, rs1555874538, rs398122391, rs756223600, rs2035758739	RCV000414765 RCV000415261 RCV000504697 RCV000504887 RCV000505075 RCV000504712 RCV001074487 RCV001074486 RCV001074848
Retinitis pigmentosa	Pathogenic	rs398122391	RCV000505165
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1114167359	RCV005899745

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs9977637	RCV005923686
Cervical cancer	Uncertain significance	rs200779516	RCV005897503
Colon adenocarcinoma	Uncertain significance; Benign; Likely benign	rs375628545, rs200779516, rs78227997	RCV005897490 RCV005897502 RCV005870677
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs946925859	RCV004560199
Familial cancer of breast	Likely benign; Uncertain significance; Benign	rs368420980, rs751236712, rs755844755, rs1131101, rs1131100, rs370656151	RCV005912854 RCV005925530 RCV005923990 RCV005897493 RCV005897492 RCV005901120
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs751825604, rs370656151, rs2236453	RCV005897508 RCV005901121 RCV005913860
Hepatocellular carcinoma	Benign; Likely benign	rs9977637, rs751825604	RCV005923687 RCV005897505
Malignant tumor of esophagus	Uncertain significance; Likely benign	rs527870177, rs751825604, rs375628545	RCV005925588 RCV005897506 RCV005897491
Ocular motility disease	Uncertain significance	rs368194132	RCV005620358
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs9977637, rs13046486, rs1131102, rs751825604, rs543392161, rs370656151	RCV005923688 RCV005921213 RCV005928241 RCV005931347 RCV005897504 RCV005901122
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity; Benign; Likely benign	rs559725056, rs564134000	RCV005897501 RCV005901119
Progressive neurodegenerative disease	Conflicting classifications of pathogenicity	rs1057518766	RCV000415411
Sarcoma	Likely benign; Benign	rs368420980, rs762538491, rs112723616	RCV005912855 RCV005925430 RCV005897497
Uterine carcinosarcoma	Benign	rs80289899, rs112723616	RCV005915682 RCV005897498
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance; Benign	rs368420980, rs375708543, rs112723616, rs7277693	RCV005912857 RCV005925711 RCV005897500 RCV005901034
Uveal melanoma	Uncertain significance; Benign	rs752396390, rs112723616	RCV005925675 RCV005897496

Associations from Text Mining
Disease Name	Relationship Type	References
AA amyloidosis	Associate	12408231
Adenoma	Associate	21274745
Adrenal Insufficiency	Associate	32178553
Adrenocortical Carcinoma	Associate	22358232
Alzheimer Disease	Associate	12408231, 33633844
Anemia Sickle Cell	Associate	38353026
Aortic Aneurysm Abdominal	Associate	29656960
Arthritis Rheumatoid	Associate	22450926
Atrophy	Associate	32178553
Breast Neoplasms	Associate	16552441, 17587451
Breast Neoplasms	Inhibit	19133151
Calcinosis Cutis	Associate	16552441
Carcinogenesis	Associate	15605080, 33682749
Carcinoma Hepatocellular	Associate	12412173, 15605080, 22461898
Carcinoma Hepatocellular	Inhibit	15948234
Carcinoma Merkel Cell	Associate	17695418
Carcinoma Non Small Cell Lung	Associate	15073855, 21170350, 30485686
Carcinoma Non Small Cell Lung	Inhibit	18480415, 30762300, 37832095
Carcinoma Ovarian Epithelial	Associate	25092217
Carcinoma Renal Cell	Associate	30406146, 35529267
Carcinoma Renal Cell	Inhibit	35787628
Cerebral Amyloid Angiopathy	Associate	12408231
Cholangiocarcinoma	Associate	30452401, 31040073
Cholesteatoma	Associate	25093596
Chromosome 21 monosomy	Associate	35361402
Chromosome 21 ring	Associate	35361402
Colitis Ulcerative	Stimulate	30892485
Colorectal Neoplasms	Associate	11720442
Coronary Artery Disease	Associate	19074676
Death	Stimulate	30821848
Dermatitis Atopic	Associate	32035984
Diabetes Mellitus	Associate	19074676
Diabetes Mellitus	Stimulate	21549702
Diabetes Mellitus Type 2	Associate	18345385
Diastrophic dysplasia	Associate	22358232
Down Syndrome	Associate	19133151, 27487163, 33633844, 35361402, 38095646
Endometriosis	Associate	17482599
Epilepsy	Associate	12415512
Familial Primary Pulmonary Hypertension	Stimulate	25840998
Fever	Associate	17426445, 24662947
Gardner Syndrome	Stimulate	33682749
Genetic Diseases Inborn	Associate	32178553, 33494993
Giant Cell Arteritis	Stimulate	31573481
Glaucoma Open Angle	Associate	19145252, 29847670
Glioma	Associate	30795814
Glomerulonephritis IGA	Stimulate	33341801
Head and Neck Neoplasms	Associate	24662947
Head and Neck Neoplasms	Stimulate	26171937
Heart Failure	Associate	26771970
Heart Failure	Stimulate	29893146
Hemangioma	Associate	11254674, 16861344
Hemangioma capillary infantile	Associate	16861344
Hepatitis B	Stimulate	12412173
Hepatopulmonary Syndrome	Associate	20346360
Hip Dislocation Congenital	Associate	32178553
Hypertension	Associate	25424718
Ige Responsiveness Atopic	Associate	19961619
Kidney Diseases	Associate	35618095
Knobloch syndrome	Associate	12415512, 20799329, 25392994, 28924418, 29178892, 32178553, 34680907, 34751625, 37269665, 39457419
Leukemia	Associate	12693719
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12693719
Leukemia Myeloid Acute	Associate	12693719, 26125711, 33284559
Lung Diseases Interstitial	Stimulate	33341801
Lymphangioleiomyomatosis	Stimulate	30922357
Macular Degeneration	Associate	31731799
Mixed Tumor Malignant	Associate	22358232
Myocardial Ischemia	Associate	29893146
Myocardial Ischemia	Stimulate	30474426
Myopia	Associate	21527992, 35567543
Myotonic Dystrophy	Stimulate	19074676
Nasopharyngeal Carcinoma	Associate	24662947
Navajo neurohepatopathy	Associate	22358232
Neoplasm Metastasis	Associate	20212451, 20361288, 22009965, 26542764, 26678934, 33682749
Neoplasm Metastasis	Stimulate	25481287
Neoplasms	Associate	10669955, 12412173, 15040603, 15073855, 15605080, 15735323, 16552441, 17695418, 19412434, 19622587, 20212451, 20799329, 22358232, 25481287, 32364250
Neoplasms	Inhibit	12029087, 17587451, 29390436, 30485686, 35787628
Neoplasms	Stimulate	16996904
Obesity	Associate	18345385
Osteosarcoma	Associate	22009965, 25481287, 26542764, 26617886
Ovarian Neoplasms	Associate	11720442
Overweight	Associate	19431146
Pelvic Organ Prolapse	Associate	22105264, 26347886, 31663982
Plaque Amyloid	Associate	12408231
Pre Eclampsia	Associate	17616861
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	20799329
Prostatic Neoplasms	Associate	15662127, 19431146, 25605930
Prostatic Neoplasms	Inhibit	28069826
Prostatic Neoplasms Castration Resistant	Associate	25605930
Pulmonary Arterial Hypertension	Associate	25489667, 31922883, 33334933
Renal Insufficiency	Associate	35618095
Renal Insufficiency Chronic	Associate	25049013
Renal Insufficiency Chronic	Stimulate	29893146
Retinal Arterial Macroaneurysm	Stimulate	33341801
Retinal Detachment	Associate	37269665
Retinal Perforations	Associate	37203077
Sarcoma Ewing	Associate	33682749
Scleroderma Systemic	Associate	32085768, 33334933, 36707842
Squamous Cell Carcinoma of Head and Neck	Associate	23370231, 24662947
Stomach Neoplasms	Associate	19622587, 20361288, 30948703
Strabismus	Associate	30772522
Takayasu Arteritis	Stimulate	31573481
Tuberous Sclerosis	Associate	30922357
Tuberous Sclerosis 1	Stimulate	30922357
Uterine Cervical Dysplasia	Associate	37932662
Ventricular Dysfunction Left	Associate	29893146