COL4A3 (collagen type IV alpha 3 chain)

Gene

• Entrez ID: 1285
• Gene name: Collagen type IV alpha 3 chain
• Gene symbol: COL4A3
• Synonyms (NCBI Gene): ATS2, ATS3, ATS3A, ATS3B, BFH2
• Disease Acronyms (UniProt): ATS2, ATS3A, ATS3B, BFH2
• Chromosome: 2
• Chromosome location: 2q36.3
• Summary: Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047553	hsa-miR-10a-5p	CLASH	23622248
MIRT527454	hsa-miR-548ac	PAR-CLIP	22012620
MIRT527453	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT527452	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT527451	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT527450	hsa-miR-548z	PAR-CLIP	22012620
MIRT527449	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT527448	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT527447	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT527446	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT527445	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT527444	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT527443	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT527442	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT527441	hsa-miR-548aa	PAR-CLIP	22012620
MIRT527440	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT527439	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT527438	hsa-miR-302b-5p	PAR-CLIP	22012620
MIRT527437	hsa-miR-302d-5p	PAR-CLIP	22012620
MIRT527454	hsa-miR-548ac	PAR-CLIP	22012620
MIRT527453	hsa-miR-548bb-3p	PAR-CLIP	22012620
MIRT527452	hsa-miR-548d-3p	PAR-CLIP	22012620
MIRT527451	hsa-miR-548h-3p	PAR-CLIP	22012620
MIRT527450	hsa-miR-548z	PAR-CLIP	22012620
MIRT527449	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT527448	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT527447	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT527446	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT527445	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT527444	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT527443	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT527442	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT527441	hsa-miR-548aa	PAR-CLIP	22012620
MIRT527440	hsa-miR-548ap-3p	PAR-CLIP	22012620
MIRT527439	hsa-miR-548t-3p	PAR-CLIP	22012620
MIRT527438	hsa-miR-302b-5p	PAR-CLIP	22012620
MIRT527437	hsa-miR-302d-5p	PAR-CLIP	22012620
MIRT902814	hsa-miR-196a	CLIP-seq
MIRT902815	hsa-miR-196b	CLIP-seq
MIRT902816	hsa-miR-3613-3p	CLIP-seq
MIRT902817	hsa-miR-3614-5p	CLIP-seq
MIRT902818	hsa-miR-3927	CLIP-seq
MIRT902819	hsa-miR-511	CLIP-seq
MIRT1967738	hsa-miR-3545-3p	CLIP-seq
MIRT1967739	hsa-miR-3622a-5p	CLIP-seq
MIRT902819	hsa-miR-511	CLIP-seq
MIRT1967740	hsa-miR-564	CLIP-seq
MIRT1967741	hsa-miR-583	CLIP-seq
MIRT2203570	hsa-miR-200b	CLIP-seq
MIRT2203571	hsa-miR-200c	CLIP-seq
MIRT2203572	hsa-miR-429	CLIP-seq
MIRT2203573	hsa-miR-489	CLIP-seq
MIRT2203574	hsa-miR-494	CLIP-seq
MIRT2203575	hsa-miR-514	CLIP-seq
MIRT2203576	hsa-miR-514b-3p	CLIP-seq
MIRT2203577	hsa-miR-519a	CLIP-seq
MIRT2203578	hsa-miR-519b-3p	CLIP-seq
MIRT2203579	hsa-miR-519c-3p	CLIP-seq
MIRT2678408	hsa-miR-4501	CLIP-seq
MIRT2678409	hsa-miR-568	CLIP-seq
MIRT2678410	hsa-miR-643	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ZEB1	Unknown	22199242

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005178	Function	Integrin binding	IDA	12682293
GO:0005178	Function	Integrin binding	TAS	10766752
GO:0005198	Function	Structural molecule activity	NAS	3025878
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10212244, 12682293
GO:0005576	Component	Extracellular region	TAS
GO:0005587	Component	Collagen type IV trimer	IDA	10766752
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005604	Component	Basement membrane	IDA	10766752
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	10766752
GO:0007155	Process	Cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	NAS	10766752
GO:0007605	Process	Sensory perception of sound	TAS	7987396
GO:0008015	Process	Blood circulation	TAS	10766752
GO:0008191	Function	Metalloendopeptidase inhibitor activity	NAS	10766752
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	10837460
GO:0009749	Process	Response to glucose	IEA
GO:0010951	Process	Negative regulation of endopeptidase activity	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IDA	10766752, 12682293
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 28675934
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0032836	Process	Glomerular basement membrane development	ISS
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0072577	Process	Endothelial cell apoptotic process	IDA	10766752
GO:1905563	Process	Negative regulation of vascular endothelial cell proliferation	IDA	10766752

Other IDs

• MIM: 120070
• HGNC: 2204
• e!Ensembl: ENSG00000169031

Protein

• UniProt ID: Q01955
• Protein name: Collagen alpha-3(IV) chain (Goodpasture antigen) [Cleaved into: Tumstatin]
• Protein function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.; Tumstatin, a cleavage fragment corresponding to t
• PDB: 5NB0, 6WKU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	41 → 104	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	97 → 162	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	169 → 223	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	282 → 344	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	351 → 412	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	386 → 444	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	413 → 478	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	482 → 546	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	588 → 648	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	699 → 749	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	747 → 809	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	788 → 849	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	847 → 905	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	892 → 948	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	950 → 1009	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	997 → 1060	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1061 → 1122	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1119 → 1178	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1176 → 1235	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1292 → 1352	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1379 → 1441	Collagen triple helix repeat (20 copies)	Repeat
  PF01413	C4	1446 → 1553	C-terminal tandem repeated domain in type 4 procollagen	Domain
  PF01413	C4	1556 → 1667	C-terminal tandem repeated domain in type 4 procollagen	Domain

• Tissue specificity: TISSUE SPECIFICITY: Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung. PubMed:8083201 reports similar l
• Sequence:

  MSARTAPRPQVLLLPLLLVLLAAAPAASKGCVCKDKGQCFCDGAKGEKGEKGFPGPPGSP
  GQKGFTGPEGLPGPQGPKGFPGLPGLTGSKGVRGISGLPGFSGSPGLPGTPGNTGPYGLV
  GVPGCSGSKGEQGFPGLPGTLGYPGIPGAAGLKGQKGAPAKEEDIELDAKGDPGLPGAPG
  PQGLPGPPGFPGPVGPPGPPGFFGFPGAMGPRGPKGHMGERVIGHKGERGVKGLTGPPGP
  PGTVIVTLTGPDNRTDLKGEKGDKGAMGEPGPPGPSGLPGESYGSEKGAPGDPGLQGKPG
  KDGVPGFPGSEGVKGNRGFPGLMGEDGIKGQKGDIGPPGFRGPTEYYDTYQEKGDEGTPG
  PPGPRGARGPQGPSGPPGVPGSPGSSRPGLRGAPGWPGLKGSKGERGRPGKDAMGTPGSP
  GCAGSPGLPGSPGPPGPPGDIVFRKGPPGDHGLPGYLGSPGIPGVDGPKGEPGLLCTQCP
  YIPGPPGLPGLPGLHGVKGIPGRQGAAGLKGSPGSPGNTGLPGFPGFPGAQGDPGLKGEK
  GETLQPEGQVGVPGDPGLRGQPGRKGLDGIPGTPGVKGLPGPKGELALSGEKGDQGPPGD
  PGSPGSPGPAGPAGPPGYGPQGEPGLQGTQGVPGAPGPPGEAGPRGELSVSTPVPGPPGP
  PGPPGHPGPQGPPGIPGSLGKCGDPGLPGPDGEPGIPGIGFPGPPGPKGDQGFPGTKGSL
  GCPGKMGEPGLPGKPGLPGAKGEPAVAMPGGPGTPGFPGERGNSGEHGEIGLPGLPGLPG
  TPGNEGLDGPRGDPGQPGPPGEQGPPGRCIEGPRGAQGLPGLNGLKGQQGRRGKTGPKGD
  PGIPGLDRSGFPGETGSPGIPGHQGEMGPLGQRGYPGNPGILGPPGEDGVIGMMGFPGAI
  GPPGPPGNPGTPGQRGSPGIPGVKGQRGTPGAKGEQGDKGNPGPSEISHVIGDKGEPGLK
  GFAGNPGEKGNRGVPGMPGLKGLKGLPGPAGPPGPRGDLGSTGNPGEPGLRGIPGSMGNM
  GMPGSKGKRGTLGFPGRAGRPGLPGIHGLQGDKGEPGYSEGTRPGPPGPTGDPGLPGDMG
  KKGEMGQPGPPGHLGPAGPEGAPGSPGSPGLPGKPGPHGDLGFKGIKGLLGPPGIRGPPG
  LPGFPGSPGPMGIRGDQGRDGIPGPAGEKGETGLLRAPPGPRGNPGAQGAKGDRGAPGFP
  GLPGRKGAMGDAGPRGPTGIEGFPGPPGLPGAIIPGQTGNRGPPGSRGSPGAPGPPGPPG
  SHVIGIKGDKGSMGHPGPKGPPGTAGDMGPPGRLGAPGTPGLPGPRGDPGFQGFPGVKGE
  KGNPGFLGSIGPPGPIGPKGPPGVRGDPGTLKIISLPGSPGPPGTPGEPGMQGEPGPPGP
  PGNLGPCGPRGKPGKDGKPGTPGPAGEKGNKGSKGEPGPAGSDGLPGLKGKRGDSGSPAT
  WTTRGFVFTRHSQTTAIPSCPEGTVPLYSGFSFLFVQGNQRAHGQDLGTLGSCLQRFTTM
  PFLFCNVNDVCNFASRNDYSYWLSTPALMPMNMAPITGRALEPYISRCTVCEGPAIAIAV
  HSQTTDIPPCPHGWISLWKGFSFIMFTSAGSEGTGQALASPGSCLEEFRASPFLECHGRG
  TCNYYSNSYSFWLASLNPERMFRKPIPSTVKAGELEKIISRCQVCMKKRH

• Sequence length: 1670

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Protein digestion and absorption
Amoebiasis
Human papillomavirus infection
Pathways in cancer
Small cell lung cancer

Reactome:

Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Anchoring fibril formation
Crosslinking of collagen fibrils
Laminin interactions
Non-integrin membrane-ECM interactions
NCAM1 interactions
Collagen chain trimerization

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alport syndrome	Alport Syndrome, Alport Syndrome, Autosomal Dominant, Alport Syndrome, Autosomal Recessive, Alport syndrome, dominant type, Alport syndrome, recessive type, Hemorrhagic hereditary nephritis, ALPORT SYNDROME 3, AUTOSOMAL DOMINANT, ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE, Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome	rs104886303, rs121912858, rs121912859, rs121912860, rs121912861, rs121912862, rs121912824, rs121912825, rs1325453230, rs121912826, rs267606745, rs104886440, rs104886071, rs104886079, rs104886101, rs281874670, rs281874673, rs104886142, rs104886189, rs104886210, rs104886247, rs104886286, rs281874753, rs267599231, rs876657397, rs1553676221, rs1057519376, rs1057519377, rs201697532, rs374815903, rs200287952, rs1057516204, rs200672668, rs375040636, rs1060499654, rs1114167371, rs1131691738, rs1553627655, rs1363277825, rs1553690565, rs1175052474, rs748901402, rs1553641611, rs1189502123, rs534522842, rs1553683757, rs375450996, rs745672795, rs1553759430, rs868002181, rs756231749, rs35138315, rs1553764454, rs371334239, rs1553611876, rs1553612433, rs1553622675, rs1553625684, rs1553639043, rs773515249, rs1553760558, rs1556420349, rs1553612309, rs1206142672, rs369922627, rs1553624127, rs778043831, rs1553641728, rs768003309, rs1553643669, rs1553644402, rs1553658892, rs954701825, rs1553669704, rs779930511, rs926605269, rs1553612499, rs891854419, rs755927061, rs762518741, rs775373641, rs1553751122, rs1553611947, rs988439345, rs1274459294, rs1553755124, rs772958162, rs1553755767, rs993103826, rs1196996393, rs1553762113, rs749383170, rs1446915781, rs1553682895, rs1553683192, rs1489351299, rs1553688712, rs748473278, rs1553690604, rs1553696207, rs937550597, rs1553611909, rs1203564054, rs773081522, rs1491486533, rs1553688330, rs1553753119, rs1422638161, rs754669149, rs1553712110, rs1553757096, rs1396602090, rs1553758919, rs1553762314, rs202001097, rs749390823, rs1553750900, rs1346138010, rs1553765265, rs1369097739, rs1469479748, rs748026887, rs1553766404, rs1444785718, rs1553760257, rs766306957, rs371172166, rs766900945, rs1553762279, rs769783985, rs201648982, rs1553762936, rs781566652, rs769863513, rs867868993, rs760846085, rs1351781261, rs1553676230, rs1553681714, rs1553688696, rs1201925443, rs1553725815, rs1553750572, rs1553751120, rs1553752199, rs756133651, rs1158937060, rs1553758893, rs1553759476, rs1306992119, rs1553759665, rs1440033157, rs1553760802, rs1445615417, rs759873621, rs1553766735, rs1559617617, rs1026613471, rs1559882199, rs1559395617, rs772708743, rs1040287646, rs1241404192, rs1559873550, rs1569492951, rs1569494378, rs1559394354, rs1559455617, rs1559563141, rs1559563525, rs1559594442, rs1559606445, rs1559620132, rs1005389790, rs923865420, rs1559644463, rs1559646395, rs1559890352, rs983885088, rs1559909384, rs1559914770, rs1559628183, rs368434069, rs1559913871, rs1559878862, rs1575895541, rs1569492161, rs1574803132, rs1271416659, rs1575714693, rs1576207007, rs1576428862, rs1576457876, rs760795817, rs1574699806, rs779575469, rs1399954090, rs1574813382, rs1574823172, rs1574823188, rs1574813350, rs1574658390, rs1576129421, rs1574782406, rs1453590085, rs750308686, rs1574701767, rs1574728278, rs1574786225, rs1603290681, rs1574698507, rs750345987, rs1574767962, rs141127013, rs1575696646, rs1003748020, rs1576571835, rs1576812577, rs1207493576, rs1574681401, rs1363441287, rs1247804051, rs1574745989, rs1574782666, rs1402894646, rs746766677, rs1574803208, rs1305836268, rs2073752422, rs2071916145, rs1974295317, rs759043857, rs2073446714, rs1363058249	24052634, 12631109, 30828794, 9195222, 25381091, 11044206, 9269635, 11134255, 14582039, 7780062, 25307543, 24033287, 24633401, 12028435, 28542346, 28570636, 23297803, 7987301, 28117080, 7987396, 27627812, 22887978, 25525159, 24854265, 27281700, 18436078, 26346198, 23927549, 25514610, 25575550, 15954103
Alport syndrome, x-linked	Alport Syndrome, X-Linked	rs104886229, rs104886121, rs104886091, rs104886043, rs104886303, rs104886308, rs104886050, rs104886047, rs281874669, rs281874722, rs104886414, rs281874755, rs104886429, rs104886431, rs104886059, rs104886060, rs104886061, rs104886434, rs104886063, rs281874759, rs104886066, rs104886440, rs281874763, rs104886071, rs104886073, rs281874768, rs104886079, rs104886082, rs104886086, rs104886088, rs104886092, rs104886096, rs104886094, rs104886107, rs281874659, rs104886100, rs104886101, rs104886111, rs104886112, rs104886319, rs104886113, rs104886116, rs281874667, rs281874668, rs104886118, rs281874670, rs104886122, rs281874673, rs104886129, rs281874674, rs281874675, rs104886130, rs104886131, rs104886142, rs104886144, rs104886147, rs104886153, rs104886157, rs104886341, rs104886167, rs104886344, rs104886163, rs281874688, rs281874689, rs104886174, rs104886183, rs104886356, rs281874696, rs104886185, rs281874697, rs104886188, rs104886189, rs281874703, rs104886363, rs104886195, rs104886371, rs104886374, rs104886210, rs104886214, rs104886217, rs104886213, rs104886219, rs104886221, rs281874712, rs104886225, rs281874713, rs104886228, rs104886388, rs104886236, rs104886244, rs104886251, rs104886253, rs104886255, rs104886261, rs281874724, rs1556453243, rs104886269, rs587776402, rs587776403, rs104886276, rs104886279, rs104886413, rs104886293, rs281874743, rs104886287, rs104886288, rs281874747, rs104886298, rs104886302, rs281874753, rs104886306, rs281874738, rs281874761, rs281874671, rs397515496, rs797045035, rs869025333, rs869025334, rs104886338, rs869025331, rs869025332, rs878853089, rs878853114, rs886039890, rs886039886, rs1057516187, rs1057516203, rs1060499694, rs1060499710, rs1556451235, rs1131691795, rs1131692246, rs1556403112, rs1556404985, rs1556407064, rs281874702, rs104886282, rs1556411631, rs1556404027, rs1556407078, rs1556453276, rs1556419850, rs1556405010, rs1556405926, rs1556406001, rs1556406859, rs1556410516, rs1556419831, rs1556419869, rs1556419895, rs1556420349, rs1556420358, rs1556439394, rs1569509234, rs1569505374, rs1569505771, rs760109866, rs104886074, rs1569489353, rs1569490592, rs1569489328, rs1569505604, rs1569507535, rs1569469409, rs1569488426, rs1569488434, rs1569488437, rs767619131, rs104886054, rs104886443, rs1569491107, rs1569491399, rs1569491718, rs1210495852, rs1569493670, rs1569494267, rs867625069, rs886041509, rs1569497776, rs104886368, rs104886372, rs1569498896, rs1569505758, rs606231372, rs1569509257, rs1569490379, rs1569490932, rs1569492147, rs1569494061, rs1569494304, rs1569497690, rs1569498623, rs1569504056, rs1569505613, rs1569499015, rs1569493662, rs1569508360, rs1569497030, rs1569504068, rs1603290169, rs1603292422, rs1603297305, rs1603310370, rs104886235, rs1603310380, rs1603323174, rs104886424, rs1603279819, rs1603293624, rs1603278993, rs1603290131, rs1603279005, rs281874684, rs1603293639, rs1603328372, rs1556446493, rs1603323278, rs1603276159, rs1603276180, rs1603282474, rs1603287820, rs759179999, rs1603290148, rs1603290199, rs1603290681, rs281874683, rs1603291770, rs1603292021, rs1603293553, rs1603293570, rs1603293605, rs1291655627, rs1603297334, rs1603311030, rs1603323355, rs1603326397, rs104886078, rs1603326561, rs281874734, rs1603283567, rs1603286154, rs1603290763, rs1603290796, rs770451831, rs1603298378, rs1603298869, rs1603298993, rs1603306716, rs1603306718, rs1603318143, rs1603318154, rs1603328025, rs104886190, rs2068061224, rs750941179, rs2068718016, rs2067083148, rs2066231013, rs2066342176, rs1569494281, rs2068082287, rs2068126851, rs2068537554	24052634, 12631109
Benign hematuria	NON RARE IN EUROPE: Benign familial hematuria	rs121912860, rs121912861, rs121912826, rs1553676221, rs869025329, rs869025328, rs869025326, rs869025327, rs374815903, rs200287952, rs1553690565, rs35138315, rs773081522, rs1559438651, rs772708743, rs923865420, rs1559742015, rs1559643753, rs1574813350, rs760795817
Cataract	Cataract, CATARACT, ANTERIOR POLAR	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Glomerulonephritis	Glomerulonephritis	rs778043831
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hematuria	Hematuria, Benign Familial	rs104886308, rs1131692060, rs1306992119	11961012, 9195222, 24052634, 25381091
Hypertension	Hypertensive disease	rs13306026
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475	26691988
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
Alport Syndrome	Alport syndrome 3b, autosomal recessive, Alport syndrome			GenCC
Dementia	Dementia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Albuminuria	Associate	31537649
Alzheimer Disease	Associate	11044206
Androgen Insensitivity Syndrome	Associate	11044206
Anti Glomerular Basement Membrane Disease	Associate	31686460, 36130833, 7783419
Asthma	Inhibit	28608951
Breast Neoplasms	Associate	23981902
Carcinoma Non Small Cell Lung	Associate	22473740, 23108892
Carcinoma Renal Cell	Associate	24002681, 33761933
Chronic Kidney Disease Mineral and Bone Disorder	Associate	31085678
Collagen Diseases	Associate	25514610, 30881523, 33159707
Colorectal Neoplasms	Associate	32945508
Corneal Dystrophy Posterior Polymorphous 3	Associate	22199242, 27537263
Corneal endothelial dystrophy type 2	Associate	22199242
Deafness	Associate	30881523, 34997062
Diabetic Nephropathies	Associate	30012629, 31537649
Down Syndrome	Associate	27487163
Epilepsy Benign Neonatal	Associate	19129241
Eye Abnormalities	Associate	24052634, 29551517, 30881523
Eye Infections Fungal	Associate	30881523
Fabry Disease	Associate	31840555
Genetic Diseases Inborn	Associate	18160688, 30881523
Glomerulonephritis IGA	Associate	34717572, 36130833
Glomerulosclerosis Focal Segmental	Associate	25229338, 25381091, 25407002, 25514610, 27469977, 28704582, 33305316, 36292665
Hearing Loss	Associate	24052634, 30881523, 34753855
Hearing Loss Sensorineural	Associate	29551517
Hematuria	Associate	11318937, 11473630, 12028435, 12631110, 14871398, 15882279, 25229338, 25381091, 25514610, 29551517, 30476138, 30881523, 33369211, 34400539, 35474271, 37872228
Hematuria Benign Familial	Associate	11318937, 11473630, 12028435, 12631110, 14871398, 17396119, 19675380, 23516419, 24854265, 25355442, 25514610, 26833262, 28704582, 29138824, 29764427, 31288791, 34400539, 35880347, 36130833, 36292665, 8787673
Hereditary renal agenesis	Associate	10200983
IgA Deficiency	Associate	34930753
Inflammation	Inhibit	28608951
Keratoconus	Associate	20029656, 20664914, 26040312, 32867823
Kidney Diseases	Associate	25229338, 25381091, 28117080, 29551517, 30881523, 31537649, 33095447, 33305316, 33369211, 34632641, 38317457, 39907758
Kidney Failure Chronic	Associate	15086897, 25381091, 25514610, 28704582, 29551517, 31144478, 33854215
Lupus Erythematosus Systemic	Associate	37841281
Mason Type Diabetes	Associate	30012629
Membranous Obstruction of Inferior Vena Cava	Associate	35151252
Neoplasm Metastasis	Associate	36407358
Neoplasms	Inhibit	22473740, 24002681
Neoplasms	Associate	33761933, 35361846
Neoplasms Adipose Tissue	Associate	31551515
Neoplastic Syndromes Hereditary	Associate	30881523
Nephritis Hereditary	Associate	10200983, 11044206, 11318937, 11473630, 12028435, 12631110, 15086897, 16252232, 17396119, 19675380, 21897443, 23297803, 24052634, 24854265, 25229338, 25355442, 25514610, 27627812, 27904025, 28542346, 28570636, 28704582, 29089023, 29138824, 29246570, 30883042, 30968591, 31044288, 31477057, 31537649, 31754267, 31840555, 33369211, 33524082, 33601099, 33772369, 33838161, 33854215, 34238373, 34400539, 34508137, 34626894, 34717572, 34774011, 34930753, 35177655, 35369551, 35582193, 35880347, 36292665, 37143203, 37770589, 37986374, 38317457, 39202375, 39521677, 40004525, 7783412, 7783419, 9792860
Nephrotic Syndrome	Associate	25407002, 28117080, 34930753
Neuroma Acoustic	Associate	24030433
Noonan Syndrome	Associate	35151252
Osteogenesis Imperfecta Type IV	Associate	28704582
Ovarian Neoplasms	Associate	26260910
Proteinuria	Associate	14871398, 34930753, 37986374
Pulmonary Disease Chronic Obstructive	Associate	18385178, 22829758
Pulmonary edema of mountaineers	Associate	30053909
Renal Insufficiency	Associate	27627812, 28117080, 33305316, 33369211, 34930753
Renal Insufficiency Chronic	Associate	35325889, 38317457
Renal Nutcracker Syndrome	Associate	35151252
Respiratory Distress Syndrome	Associate	26507871
Respiratory Distress Syndrome Newborn	Associate	26507871
Scleroderma Diffuse	Associate	27111861
Status Asthmaticus	Inhibit	23483898
Status Asthmaticus	Associate	28608951
Thinness	Associate	25229338
Thyroid Cancer Papillary	Associate	28402931
Urofacial syndrome	Associate	35369551