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
• 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	IEA
GO:0005515	Function	Protein binding	IPI	10212244, 12682293
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005587	Component	Collagen type IV trimer	IBA
GO:0005587	Component	Collagen type IV trimer	IDA	10766752
GO:0005587	Component	Collagen type IV trimer	IEA
GO:0005604	Component	Basement membrane	IDA	10766752
GO:0005604	Component	Basement membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	NAS	10766752
GO:0007605	Process	Sensory perception of sound	TAS	7987396
GO:0008191	Function	Metalloendopeptidase inhibitor activity	NAS	10766752
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	10837460
GO:0016525	Process	Negative regulation of angiogenesis	IDA	10766752, 12682293
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 28675934
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0032836	Process	Glomerular basement membrane development	IEA
GO:0032836	Process	Glomerular basement membrane development	ISS
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Alport syndrome	Likely pathogenic; Pathogenic	rs1414411811, rs1559899827, rs2125936534, rs1385106410, rs761358728, rs2106164697, rs2125932297, rs755109848, rs2071832975, rs1246102682, rs2125961933, rs1185847791, rs2125972390, rs1346132592, rs2125906801, rs2125991456, rs876657397, rs1268304692, rs2469724141, rs1400784100, rs758046482, rs2469885478, rs761686437, rs2469908727, rs2469816514, rs2469545357, rs759739044, rs121912824, rs267606745, rs749383170, rs201088233, rs200287952, rs1060499654, rs1131691738, rs1175052474, rs868002181, rs1553764136, rs756231749, rs1553764454, rs371334239, rs773515249, rs775373641, rs1196996393, rs1396602090, rs749390823, rs1346138010, rs1469479748, rs748026887, rs920413118, rs766306957, rs781566652, rs769863513, rs760846085, rs759873621, rs920061910, rs772708743, rs1559873550, rs1559893935, rs779575469, rs1399954090, rs1574698507, rs1363441287, rs988439345, rs2073752422, rs2071916145, rs758444182, rs1055753755, rs1189607438, rs1256505387	RCV001826053 RCV004789553 RCV005614532 RCV001826180 RCV001831385 RCV005614536 RCV005635180 RCV001580286 RCV004785293 RCV004785421 RCV004785404 RCV005614735 RCV005614694 RCV005635445 RCV005614740 RCV004785415 RCV001272220 RCV004786750 RCV005616482 RCV005616526 RCV005616610 RCV005616611 RCV004786642 RCV005636903 RCV004786959 RCV004786962 RCV004786996 RCV004787085 RCV001273243 RCV001273241 RCV005618359 RCV006249914 RCV002225103 RCV001833572 RCV001328055 RCV001834631 RCV004787823 RCV005632439 RCV001834658 RCV005632451 RCV001272227 RCV004788040 RCV001272225 RCV003225951 RCV004788095 RCV001272223 RCV001830467 RCV004788088 RCV001829828 RCV006249667 RCV001273240 RCV001830450 RCV005250086 RCV001835073 RCV001328056 RCV004788108 RCV001272226 RCV004788113 RCV005614441 RCV006249688 RCV004789184 RCV004789307 RCV005633809 RCV001836094 RCV001273244 RCV004789375 RCV001833919 RCV005614502 RCV001830069 RCV001328060	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport syndrome 3b, autosomal recessive	Likely pathogenic; Pathogenic	rs202001097, rs2125914087, rs761358728, rs2069929443, rs1574842143, rs2125961933, rs375290088, rs2125972772, rs2073715263, rs1346132592, rs2125906801, rs1167411352, rs757341933, rs2106283830, rs1430568143, rs2469770966, rs2106175500, rs876657397, rs1408412826, rs2469937169, rs1344548642, rs1400784100, rs2469517638, rs869025328, rs869025325, rs1363680371, rs2469545357, rs771818723, rs761686437, rs1489682011, rs2469769276, rs2469904962, rs2469699523, rs2469930740, rs1185847791, rs1286895614, rs2469563027, rs1553753119, rs2469865804, rs2469754387, rs2469758704, rs2469865789, rs121912824, rs267606745, rs2469931435, rs2469563364, rs2469916768, rs2469651556, rs2469677416, rs200287952, rs200672668, rs1060499696, rs1131691738, rs1175052474, rs1553759430, rs868002181, rs1192750535, rs764046610, rs1553764454, rs371334239, rs773515249, rs1553760558, rs775373641, rs1553751122, rs988439345, rs1274459294, rs1553755124, rs772958162, rs1196996393, rs1553762113, rs749383170, rs1553757096, rs1553762314, rs749390823, rs1553750900, rs1346138010, rs1553760257, rs766306957, rs752452590, rs769863513, rs867868993, rs760846085, rs1553751120, rs1158937060, rs1553759476, rs1306992119, rs1440033157, rs1553760802, rs759873621, rs779855573, rs1559897288, rs1559872489, rs1559899600, rs772708743, rs1559890140, rs1315862965, rs368434069, rs1574699806, rs779575469, rs1574823172, rs1574813350, rs764376138, rs755849032, rs1453590085, rs1574745989, rs766025194, rs2071838155, rs2073446714, rs2070035662, rs749348004, rs2071566709, rs1189607438, rs1256505387, rs1350342816	RCV005023122 RCV005860226 RCV005014528 RCV005864615 RCV005023304 RCV005023499 RCV003992591 RCV004558737 RCV005025511 RCV005025671 RCV005016969 RCV005005329 RCV005005310 RCV005023435 RCV003333777 RCV005017190 RCV005025837 RCV005003524 RCV005028274 RCV005028327 RCV005028052 RCV005028115 RCV005019567 RCV005025339 RCV005868156 RCV005868119 RCV005029908 RCV005623107 RCV005025409 RCV005029975 RCV003389143 RCV003389230 RCV005021957 RCV003389935 RCV005030103 RCV005030149 RCV005030166 RCV005254857 RCV003989270 RCV005015112 RCV005030369 RCV003993514 RCV005867785 RCV005003388 RCV005023567 RCV004549019 RCV005023570 RCV004585212 RCV004585215 RCV005004140 RCV005252872 RCV005018741 RCV005004191 RCV005027584 RCV005018877 RCV005027598 RCV005027599 RCV005004208 RCV005027613 RCV005027693 RCV005019037 RCV005019036 RCV005019108 RCV005027774 RCV005027803 RCV005019145 RCV005004329 RCV005019110 RCV005019142 RCV004796271 RCV005027818 RCV005027782 RCV005004342 RCV005019148 RCV005019132 RCV005004335 RCV005019165 RCV005004330 RCV005027786 RCV005027778 RCV005004343 RCV005027829 RCV005027781 RCV005019119 RCV005019153 RCV005027810 RCV005004348 RCV005019120 RCV005019102 RCV005004331 RCV005860127 RCV005019172 RCV005004360 RCV005019174 RCV005027840 RCV005027881 RCV004547945 RCV005029409 RCV005029447 RCV005021176 RCV005029448 RCV005029452 RCV005029483 RCV005871055 RCV005021304 RCV005021338 RCV005004995 RCV005029623 RCV005029684 RCV005029741 RCV005029785 RCV005021522 RCV005005129 RCV005005131 RCV005866932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant Alport syndrome	Pathogenic; Likely pathogenic	rs2106226493, rs1559899827, rs202001097, rs1350835100, rs1385106410, rs761358728, rs2125956727, rs2125924714, rs2125932350, rs2072046668, rs1183958961, rs2106236091, rs2125932297, rs2125924619, rs2071832975, rs2125936494, rs1574782666, rs2106206598, rs1574842143, rs2125961933, rs1286895614, rs2106235905, rs375290088, rs2106151987, rs1240838887, rs2125981235, rs1559904445, rs2125972772, rs774583962, rs2073715263, rs1346132592, rs2125906801, rs1167411352, rs757341933, rs2106283830, rs1287109722, rs2469770966, rs2469502863, rs2469700028, rs1174417447, rs2106175500, rs759739044, rs876657397, rs1408412826, rs2469937169, rs1344548642, rs1400784100, rs2469950127, rs2469517638, rs869025328, rs1057519376, rs1057519377, rs1363680371, rs2469545357, rs761686437, rs2469685375, rs1489682011, rs1559875465, rs2469699523, rs2469606943, rs2469634847, rs1185847791, rs2469563027, rs1431769783, rs2469447838, rs2469754387, rs2469859573, rs1453982069, rs2469758704, rs2469779404, rs1574786225, rs2469594055, rs2469543418, rs2469684718, rs121912824, rs121912826, rs267606745, rs2469931435, rs1559909513, rs749383170, rs2469634805, rs2469880740, rs2469563364, rs2469850303, rs2469758753, rs373324875, rs2469779686, rs751021793, rs2125981183, rs2469916768, rs201088233, rs1043352257, rs754085928, rs200287952, rs1057516204, rs200672668, rs375040636, rs1060499654, rs1060499696, rs1064796094, rs1131691738, rs1175052474, rs748901402, rs1553759430, rs868002181, rs1192750535, rs1553764136, rs764046610, rs756231749, rs1553764454, rs371334239, rs773515249, rs1553760558, rs775373641, rs1553751122, rs988439345, rs1274459294, rs1553755124, rs772958162, rs993103826, rs1196996393, rs1553762113, rs1553757096, rs1553762314, rs749390823, rs1553750900, rs1346138010, rs1469479748, rs748026887, rs1553760257, rs766306957, rs766900945, rs752452590, rs769863513, rs867868993, rs760846085, rs1553751120, rs756133651, rs1158937060, rs1553759476, rs1306992119, rs1440033157, rs1553760802, rs759873621, rs1559897288, rs1425230568, rs1559872489, rs1559899600, rs772708743, rs1559873550, rs1559890140, rs1559890352, rs983885088, rs1559909384, rs1559914770, rs368434069, rs1559913871, rs1559878862, rs1574803132, rs1574699806, rs779575469, rs1399954090, rs1574813382, rs1574823172, rs1574823188, rs1574813350, rs764376138, rs1574658390, rs755849032, rs1453590085, rs1207493576, rs1574681401, rs1363441287, rs1247804051, rs1574745989, rs1402894646, rs746766677, rs1574803208, rs1305836268, rs766025194, rs2071838155, rs759043857, rs2073446714, rs2070035662, rs2073096212, rs2069361375, rs749348004, rs2071566709, rs2072649241, rs761780956, rs1283533086, rs2072585319, rs1189607438, rs1256505387	RCV001353239 RCV001726512 RCV005023122 RCV002499782 RCV002499809 RCV005014528 RCV005635139 RCV001391174 RCV001391173 RCV001533419 RCV001535999 RCV001544541 RCV002476872 RCV001578276 RCV001726707 RCV001801297 RCV001808156 RCV002507739 RCV005023304 RCV005023499 RCV002497998 RCV002479583 RCV005002721 RCV002507802 RCV002507775 RCV002492185 RCV002479561 RCV002479441 RCV002479685 RCV005025511 RCV005025671 RCV005016969 RCV005005329 RCV005005310 RCV005023435 RCV002466748 RCV002272123 RCV005017190 RCV002468830 RCV002468831 RCV002468833 RCV005025837 RCV002485088 RCV005003524 RCV005028274 RCV005028327 RCV005028052 RCV005028115 RCV005626725 RCV005019567 RCV005025339 RCV000416934 RCV000416827 RCV000490447 RCV005029908 RCV001029768 RCV003236639 RCV005029975 RCV003314523 RCV005021957 RCV004577585 RCV004577586 RCV005030103 RCV005030149 RCV005030166 RCV003984939 RCV003984949 RCV003991092 RCV003991169 RCV003991248 RCV003991283 RCV003991284 RCV003991303 RCV003991308 RCV003992012 RCV003992033 RCV003992050 RCV005003387 RCV001281227 RCV000019044 RCV004545912 RCV004545941 RCV004545952 RCV004545959 RCV004545967 RCV005023569 RCV004555230 RCV004555253 RCV004555292 RCV004555298 RCV004555332 RCV004555340 RCV004555342 RCV004555411 RCV004555745 RCV004556952 RCV004556956 RCV004578011 RCV000408794 RCV000408858 RCV004699171 RCV002502432 RCV000763472 RCV005018741 RCV002506176 RCV005004191 RCV000505632 RCV000505590 RCV001281222 RCV001849395 RCV005027599 RCV002496993 RCV005004208 RCV002468584 RCV005027613 RCV005027693 RCV000625624 RCV000625572 RCV000786994 RCV005027774 RCV005027803 RCV005019145 RCV001807646 RCV001198699 RCV002493101 RCV005019142 RCV004796271 RCV005027818 RCV005027782 RCV005004342 RCV005019148 RCV001281228 RCV005004335 RCV000763077 RCV001330982 RCV002485521 RCV005004330 RCV005027786 RCV000735743 RCV005027778 RCV005004343 RCV005027829 RCV000786975 RCV005019119 RCV002477495 RCV005019153 RCV005027810 RCV004788100 RCV005019120 RCV005019102 RCV005004331 RCV005019172 RCV002507181 RCV005004360 RCV005019174 RCV000786971 RCV002499210 RCV005027881 RCV000735710 RCV000735783 RCV000735738 RCV000735672 RCV005029409 RCV002500988 RCV002501014 RCV000786779 RCV000787009 RCV000786944 RCV000786901 RCV000786972 RCV000787016 RCV000786974 RCV005029452 RCV005029483 RCV000844888 RCV005029549 RCV005021304 RCV003483750 RCV001029783 RCV001029781 RCV001029865 RCV001029784 RCV001029977 RCV001029940 RCV001029938 RCV001029989 RCV001029886 RCV001029838 RCV005004995 RCV005029623 RCV001536013 RCV001089920 RCV001197525 RCV001198013 RCV002497681 RCV005029785 RCV005021522 RCV002497715 RCV001281221 RCV001281225 RCV001281226 RCV005005129 RCV005005131	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive Alport syndrome	Likely pathogenic; Pathogenic	rs1350835100, rs1385106410, rs2106250807, rs1183958961, rs2106154439, rs2125932297, rs2125924619, rs2106284079, rs2106206598, rs1286895614, rs2106235905, rs375290088, rs2106151987, rs1240838887, rs2125981235, rs1559904445, rs2125972772, rs774583962, rs751677704, rs2125934541, rs2106271012, rs2469931914, rs2469759634, rs772528863, rs2469748132, rs2469685114, rs2469865930, rs2469563154, rs2469770211, rs2469829894, rs2469904884, rs2469731988, rs752030126, rs2469684566, rs2469683983, rs2469910358, rs2469784298, rs2469607070, rs2469545432, rs2469779530, rs1335923152, rs2469784657, rs2469677840, rs2469937744, rs2469543375, rs2469699400, rs2469939276, rs2106164384, rs2469759449, rs2469850008, rs2469545819, rs2469594045, rs2469684210, rs2469908814, rs2469747787, rs2469937391, rs2469916694, rs2469930937, rs2469880076, rs2469568674, rs2469850410, rs2469937825, rs2469494821, rs2469930892, rs2071139043, rs2469563696, rs2469700927, rs2469816176, rs2469651883, rs2469909195, rs2469937855, rs2469769803, rs2106175500, rs759739044, rs876657397, rs2469950127, rs1363680371, rs2469545357, rs1064796314, rs765128550, rs761686437, rs2469759941, rs2469607690, rs2070534871, rs1405970656, rs121912824, rs121912825, rs1325453230, rs267606745, rs200287952, rs200672668, rs375040636, rs1060499654, rs1064796094, rs1114167371, rs868002181, rs1553764136, rs756231749, rs1553764454, rs371334239, rs773515249, rs762518741, rs775373641, rs1553751122, rs988439345, rs1274459294, rs1553755124, rs772958162, rs1553755767, rs993103826, rs1196996393, rs1553762113, rs749383170, rs1491486533, rs1553753119, rs1422638161, rs1553757096, rs1396602090, rs1553758919, rs1553762314, rs202001097, rs749390823, rs1553750900, rs1346138010, rs1553765265, rs1469479748, rs748026887, rs1553766404, rs745472969, rs1444785718, rs1553760257, rs920413118, rs766306957, rs766900945, rs752452590, rs1553762279, rs1553762936, rs781566652, rs769863513, rs867868993, rs760846085, rs1351781261, rs1553725815, rs1553750572, rs1553751120, rs1553752199, rs756133651, rs1553757060, rs1158937060, rs1553758893, rs1553759476, rs1306992119, rs1553759665, rs1440033157, rs1553760802, rs1445615417, rs759873621, rs1553766735, rs1425230568, rs1559882199, rs1559873550, rs1315862965, rs368434069, rs1559913871, rs1559878862, rs1574699806, rs779575469, rs1574823172, rs1574813350, rs1574782406, rs1453590085, rs750308686, rs1574701767, rs1574728278, rs1574786225, rs1574698507, rs1574767962, rs759043857, rs1363058249, rs2069361375, rs749348004, rs2070145822, rs2072649241, rs2069716520, rs2069242131, rs2071831565, rs2068937789, rs2069240492, rs768527987, rs1348174898, rs2070736908, rs2070901479, rs921768118, rs2071189852, rs920504687, rs2071839316, rs2072046147, rs2072047738, rs2072184526, rs2072530756, rs2072651666, rs2072936269, rs2072936529, rs2072936636, rs2072983130, rs2073363435, rs2073400756, rs2073401408, rs2073567181, rs2073628823, rs2073630720, rs2073446479	RCV002499782 RCV002499809 RCV001391122 RCV001535999 RCV001823234 RCV002476872 RCV005861245 RCV002051740 RCV002507739 RCV002497998 RCV002479583 RCV002271709 RCV002507802 RCV002507775 RCV002492185 RCV002479561 RCV002479441 RCV002479685 RCV002290813 RCV002222946 RCV002251096 RCV002306478 RCV002306520 RCV002306570 RCV002306766 RCV002306789 RCV002306794 RCV002309592 RCV002309616 RCV002309641 RCV002309762 RCV002309779 RCV002309788 RCV002309811 RCV002309839 RCV002309868 RCV002309917 RCV002309952 RCV002307875 RCV002307930 RCV002307934 RCV002307958 RCV002307984 RCV002308006 RCV002308061 RCV002308100 RCV002308110 RCV002308161 RCV002308226 RCV002308335 RCV002309030 RCV002309103 RCV002309206 RCV002309217 RCV002309225 RCV002309257 RCV002309486 RCV002306941 RCV002306951 RCV002306999 RCV002307079 RCV002307122 RCV002307159 RCV002307289 RCV002307310 RCV002307332 RCV002307339 RCV002307341 RCV002310246 RCV002310400 RCV002310438 RCV002310522 RCV002468832 RCV002468834 RCV002485088 RCV000172875 RCV005626725 RCV000490447 RCV003123358 RCV003153073 RCV003155601 RCV000256394 RCV003236658 RCV003236659 RCV003324185 RCV003486512 RCV000019036 RCV000019037 RCV000019040 RCV000673273 RCV003226288 RCV000410611 RCV000411680 RCV000449569 RCV002506176 RCV000490752 RCV000668107 RCV002496993 RCV000668781 RCV001089908 RCV000589718 RCV001391170 RCV000665178 RCV000666006 RCV000664871 RCV000669524 RCV000672167 RCV000666899 RCV000666502 RCV000674276 RCV000668688 RCV000671366 RCV000667045 RCV000672753 RCV000674708 RCV000671880 RCV000668638 RCV000664514 RCV000666005 RCV000670747 RCV000664680 RCV000670389 RCV000672721 RCV000669553 RCV000668609 RCV000674775 RCV000673097 RCV000668884 RCV000665013 RCV000668666 RCV000673812 RCV000672536 RCV000667128 RCV000674326 RCV000666969 RCV000669678 RCV000665574 RCV000667832 RCV000674071 RCV000670997 RCV000670558 RCV000674928 RCV000665833 RCV000671855 RCV000673067 RCV000674511 RCV000667412 RCV000673983 RCV000668719 RCV000674357 RCV000673180 RCV000671890 RCV000671100 RCV000672563 RCV000669916 RCV000667462 RCV000664847 RCV000671970 RCV000667489 RCV000673520 RCV002507181 RCV003236588 RCV001251195 RCV005897286 RCV001199941 RCV000761269 RCV002501014 RCV001281283 RCV000995727 RCV001391172 RCV000790472 RCV001089907 RCV000995722 RCV000995723 RCV000995724 RCV000995726 RCV000995513 RCV000995514 RCV001002784 RCV001004075 RCV001089909 RCV001089906 RCV001199933 RCV004699214 RCV002307701 RCV002497715 RCV001281282 RCV001251155 RCV001254145 RCV001264036 RCV001264037 RCV001264038 RCV001264039 RCV001264040 RCV001264366 RCV001264367 RCV001264368 RCV001264369 RCV001264370 RCV001264371 RCV001264372 RCV001264373 RCV001263591 RCV001263592 RCV001263593 RCV001263594 RCV001263595 RCV001263596 RCV001263597 RCV001263598 RCV001263882 RCV001263883 RCV001263884 RCV001263885 RCV001263886 RCV001281348	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign familial hematuria	Likely pathogenic; Pathogenic	rs1350835100, rs1385106410, rs1183958961, rs2125932297, rs2106206598, rs1286895614, rs2106235905, rs2106151987, rs1240838887, rs2125981235, rs1559904445, rs2125972772, rs774583962, rs759739044, rs869025328, rs869025326, rs869025327, rs1363680371, rs121912826, rs200287952, rs375040636, rs1060499654, rs1064796094, rs868002181, rs1553764136, rs756231749, rs773515249, rs993103826, rs1346138010, rs748026887, rs756133651, rs1425230568, rs772708743, rs1559873550, rs1559913871, rs1559878862, rs1574813350, rs759043857, rs2073446714, rs2069361375, rs2072649241, rs2069899081	RCV002499782 RCV002499809 RCV001535999 RCV002476872 RCV002507739 RCV002497998 RCV002479583 RCV002507802 RCV002507775 RCV002492185 RCV002479561 RCV002479441 RCV002479685 RCV002485088 RCV000207854 RCV000207993 RCV000207687 RCV000490447 RCV000019041 RCV002288979 RCV002502432 RCV000763472 RCV002506176 RCV005625656 RCV002496993 RCV002490880 RCV001089917 RCV002493101 RCV000763077 RCV002485521 RCV002477495 RCV002507181 RCV002289956 RCV002499210 RCV002500988 RCV002501014 RCV000853582 RCV001536013 RCV001089920 RCV002497681 RCV002497715 RCV001248776	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COL4A3-related disorder	Likely pathogenic; Pathogenic	rs761358728, rs2125961933, rs876657397, rs1301696262, rs2469658167, rs2469699523, rs2469607308, rs777841031, rs1288801444, rs2469950079, rs754085928, rs200287952, rs1175052474, rs868002181, rs764046610, rs371334239, rs1553760558, rs775373641, rs1440033157, rs772708743, rs1315862965, rs368434069, rs1559878862, rs755849032, rs1164505506, rs1256505387	RCV004743449 RCV003407985 RCV003407638 RCV003400329 RCV003419002 RCV003421151 RCV003397581 RCV003414215 RCV003404414 RCV003941850 RCV004723611 RCV003922661 RCV003915403 RCV003419893 RCV004742477 RCV004722959 RCV003935738 RCV003945699 RCV004742562 RCV003403579 RCV003396315 RCV004742628 RCV004527804 RCV003936250 RCV003399008 RCV003399042	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hematuria	Pathogenic; Likely pathogenic	rs375290088, rs868002181, rs1306992119, rs1425230568, rs2071566709, rs2071334080, rs1574767962	RCV006254316 RCV006275868 RCV001328058 RCV006254134 RCV006254236 RCV001328288 RCV001328057	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hematuria, benign familial, 2	Likely pathogenic; Pathogenic	rs202001097, rs761358728, rs1574842143, rs2125961933, rs375290088, rs2073715263, rs1346132592, rs2125906801, rs1167411352, rs757341933, rs2106283830, rs2106151987, rs2469770966, rs2106175500, rs876657397, rs1408412826, rs2469937169, rs1344548642, rs1400784100, rs2469517638, rs869025328, rs2469545357, rs761686437, rs1489682011, rs2469699523, rs1185847791, rs1286895614, rs2469563027, rs2469754387, rs2469758704, rs121912824, rs267606745, rs2469931435, rs2469563364, rs2469916768, rs200287952, rs200672668, rs1060499696, rs1131691738, rs1175052474, rs1553759430, rs868002181, rs1192750535, rs764046610, rs1553764454, rs371334239, rs773515249, rs1553760558, rs775373641, rs1553751122, rs988439345, rs1274459294, rs1553755124, rs772958162, rs1196996393, rs1553762113, rs749383170, rs1553757096, rs1553762314, rs749390823, rs1553750900, rs1346138010, rs1553760257, rs766306957, rs752452590, rs769863513, rs867868993, rs760846085, rs1553751120, rs1158937060, rs1553759476, rs1306992119, rs1440033157, rs1553760802, rs759873621, rs1559897288, rs1559872489, rs1559899600, rs772708743, rs1559890140, rs368434069, rs1574699806, rs779575469, rs1574823172, rs1574813350, rs764376138, rs755849032, rs1453590085, rs1574745989, rs766025194, rs2071838155, rs2073446714, rs2070035662, rs749348004, rs2071566709, rs1189607438, rs1256505387	RCV005023122 RCV005014528 RCV005023304 RCV005023499 RCV005002721 RCV005025511 RCV005025671 RCV005016969 RCV005005329 RCV005005310 RCV005023435 RCV005620441 RCV005017190 RCV005025837 RCV005003524 RCV005028274 RCV005028327 RCV005028052 RCV005028115 RCV005019567 RCV005025339 RCV005029908 RCV005025409 RCV005029975 RCV005021957 RCV005030103 RCV005030149 RCV005030166 RCV005015112 RCV005030369 RCV005003387 RCV005003388 RCV005023567 RCV005023569 RCV005023570 RCV005004140 RCV005018703 RCV005018741 RCV005004191 RCV005027584 RCV005018877 RCV005027598 RCV005027599 RCV005004208 RCV005027613 RCV005027693 RCV005019037 RCV005019036 RCV005019108 RCV005027774 RCV005027803 RCV005019145 RCV005004329 RCV005019110 RCV005019142 RCV004796271 RCV005027818 RCV005027782 RCV005004342 RCV005019148 RCV005019132 RCV005004335 RCV005019165 RCV005004330 RCV005027786 RCV005027778 RCV005004343 RCV005027829 RCV005027781 RCV005019119 RCV005019153 RCV005027810 RCV005004348 RCV005019120 RCV005019102 RCV005004331 RCV005019172 RCV005004360 RCV005019174 RCV005027840 RCV005027881 RCV005029409 RCV005029447 RCV005021176 RCV005029448 RCV005029452 RCV005029483 RCV005029549 RCV005021304 RCV005021338 RCV005004995 RCV005029623 RCV005029684 RCV005029741 RCV005029785 RCV005021522 RCV005005129 RCV005005131	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hearing loss and deafness	Pathogenic	rs1574674108	RCV001003416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney disorder	Likely pathogenic; Pathogenic	rs2469770966, rs200287952	RCV002294671 RCV002294326	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macroscopic hematuria	Likely pathogenic; Pathogenic	rs1175052474	RCV000626594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microscopic hematuria	Likely pathogenic; Pathogenic	rs200672668, rs1175052474	RCV001580284 RCV000626593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate albuminuria	Likely pathogenic; Pathogenic	rs1175052474	RCV000626593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic	rs759043857	RCV001328054	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pilarowski-Bjornsson syndrome	Likely pathogenic	rs1574823172	RCV004540099	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteinuria	Likely pathogenic; Pathogenic	rs1175052474	RCV000626593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Collagen IV-related nephropathies	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEARING DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGENIC ALPORT SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
focal and segmental glomerulosclerosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEMATURIA, BENIGN FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, benign familial, 1	Uncertain significance	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary disease	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY, AUTISM, SPEECH APRAXIA, CRANIOFACIAL DYSMORPHISM SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis imperfecta	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY MALIGNANT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steroid-resistant nephrotic syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Stickler syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	10200983, 10460935, 10499074, 10534397, 11044206, 11134255, 11572889, 11961012, 12203217, 14582039, 15954103, 16252232, 1686082, 17143627, 17726307, 1864003, 1882840, 19129241, 19675380, 19937058, 20197625, 20307660, 21455721, 23144074, 23297803, 23732293, 23927549, 24262798, 24398087, 25229338, 25307543, 25381091, 25427084, 2654472, 27374918, 28249676, 28263850, 28542346, 28570636, 28704582, 29089023, 29138824, 29465426, 30301568, 30883042, 30968591, 31364286, 31686460, 31754267, 3528615, 7780062, 7783412, 7783419, 7987301, 9848783		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport Syndrome	Alport Syndrome	CTD_human_DG	12631109		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport Syndrome	Alport Syndrome	GENOMICS_ENGLAND_DG	24052634		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport Syndrome	Alport Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	Alport Syndrome	CLINVAR_DG	11044206, 11134255, 12028435, 14582039, 15954103, 18436078, 22887978, 23297803, 23927549, 24033287, 24052634, 24633401, 24854265, 25307543, 25514610, 25525159, 25575550, 26346198, 27281700, 27627812, 28117080, 28542346, 28570636, 7780062, 7987301, 7987396, 9195222		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	Alport Syndrome	UNIPROT_DG	11044206, 11134255		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	Alport Syndrome	GENOMICS_ENGLAND_DG	24052634, 25381091, 9269635		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT	Alport Syndrome	UNIPROT_DG	11044206, 11134255		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT	Alport Syndrome	GENOMICS_ENGLAND_DG	24052634, 25381091, 9269635		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT	Alport Syndrome	CLINVAR_DG	30828794, 9195222		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Dominant	Alport Syndrome	CTD_human_DG	12631109		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Dominant	Alport Syndrome	GENOMICS_ENGLAND_DG	24052634		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Dominant	Alport Syndrome	BEFREE	25450602, 31477057, 9269635		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Recessive	Alport Syndrome	BEFREE	10074584, 10499074, 11318937, 17216251, 17726307, 18436078, 22887978, 23297803, 23927549, 24052634, 24633401, 29246570, 7633417, 7780062, 7987301, 9269635, 9792860		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Recessive	Alport Syndrome	CTD_human_DG	12631109		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Recessive	Alport Syndrome	GENOMICS_ENGLAND_DG	24052634		★☆☆☆☆ Found in Text Mining only
Alport syndrome, dominant type	Alport Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alport syndrome, recessive type	Alport Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	BEFREE	11318937, 11473630, 12028435, 12768082, 16338941, 17396119, 21897443, 24033287, 24046192, 26809805, 30883042, 7987301		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	CTD_human_DG	12631109		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, X-Linked	Alport Syndrome, X-Linked	GENOMICS_ENGLAND_DG	24052634		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	11044206	Associate	★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	12768082, 16338941, 17396119, 21897443, 24033287, 24383070, 26809805		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	11044206	Associate	★☆☆☆☆ Found in Text Mining only
Anterior lenticonus	Lenticonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	12768082, 16338941, 17396119, 21897443, 24033287, 26809805		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23483898, 28608951		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28608951	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12724345, 25965582, 28570922		★☆☆☆☆ Found in Text Mining only
Autosomal dominant Alport syndrome	Alport Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive Alport syndrome	Alport Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Azotemia	Azotemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23981902	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24002681, 33761933	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chandler syndrome	Chandler Syndrome	BEFREE	22199242		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	11839593, 20177710, 21688191, 25381091, 25514610, 30661074		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19357112, 21688191, 29309658, 29530752, 31668632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18385178, 30935391		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18385178		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16149906		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32945508	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18818312		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Posterior Polymorphous 3	Posterior polymorphous corneal dystrophy	Pubtator	22199242, 27537263	Associate	★☆☆☆☆ Found in Text Mining only
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	16252232		★☆☆☆☆ Found in Text Mining only
CORNEAL ENDOTHELIAL DYSTROPHY 2	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	22199242		★☆☆☆☆ Found in Text Mining only
Corneal endothelial dystrophy type 2	Corneal endothelial dystrophy	Pubtator	22199242	Associate	★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30881523, 34997062	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30012629, 31537649	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	27487163		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	27487163	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	19129241	Associate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	24052634, 29551517, 30881523	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	31840555	Associate	★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	16235097, 19357112, 22228437, 24398087, 29138824		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	18439107, 19357112, 25229338, 25427084, 25596306, 26138234, 26346198, 27374918, 31254113		★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12724345		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12724345		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17145879, 23652057		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	14633133		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	16049074, 7783419, 9792860		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	34717572, 36130833	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	25229338, 25381091, 25407002, 25514610, 27469977, 28704582, 33305316, 36292665	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	24052634, 30881523, 34753855	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29551517	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	11318937, 11473630, 12028435, 12631110, 14871398, 15882279, 25229338, 25381091, 25514610, 29551517, 30476138, 30881523, 33369211, 34400539, 35474271, 37872228	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hematuria Benign Familial	Hematuria	Pubtator	11318937, 11473630, 12028435, 12631110, 14871398, 17396119, 19675380, 23516419, 24854265, 25355442, 25514610, 26833262, 28704582, 29138824, 29764427, 31288791, 34400539, 35880347, 36130833, 36292665, 8787673	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria, Benign Familial	Hematuria	UNIPROT_DG	11961012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, Benign Familial	Hematuria	BEFREE	12028435, 12768082, 14582039, 16235097, 17396119, 19129241, 19937058, 24854265, 29742505, 31387071, 8787673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, Benign Familial	Hematuria	GENOMICS_ENGLAND_DG	24052634, 25381091		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, Benign Familial	Hematuria	CLINVAR_DG	9195222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, Benign Familial	Hematuria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhagic hereditary nephritis	Alport syndrome	CTD_human_DG	12631109		★☆☆☆☆ Found in Text Mining only
Hereditary nephritis	Hereditary Nephritis	LHGDN	12028435, 12768082, 15954103, 16895672, 17396119, 17726307, 18436078		★☆☆☆☆ Found in Text Mining only
Hereditary nephritis	Hereditary Nephritis	CTD_human_DG	12631109		★☆☆☆☆ Found in Text Mining only
Hereditary nephritis	Hereditary Nephritis	BEFREE	2654472, 28704582		★☆☆☆☆ Found in Text Mining only
High-frequency sensorineural hearing impairment	High-frequency sensorineural hearing impairment	BEFREE	31477057		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	34930753	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	20029656, 25083577, 28197741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Keratoconus	Pubtator	20029656, 20664914, 26040312, 32867823	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	14507670, 20951199, 20962742, 22553158, 23876007, 24398087, 25307543, 25381091, 28117080, 28249676, 28632965, 29759420, 31306228, 7780062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	25229338, 25381091, 28117080, 29551517, 30881523, 31537649, 33095447, 33305316, 33369211, 34632641, 38317457, 39907758	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	14582039, 20177710, 30301568		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	15086897, 25381091, 25514610, 28704582, 29551517, 31144478, 33854215	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	11839593, 20177710, 21688191, 25381091, 25514610, 30661074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	LHGDN	17942953, 18661361		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	29309658		★☆☆☆☆ Found in Text Mining only
Lenticonus	Lenticonus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	18485794		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18575748		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	37841281	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	18485794		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21622854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	18485794		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19799647		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	12203217		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28785775, 29199230		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12842087, 16149906, 17145879, 18485794, 18818312, 19080341, 22473740, 23108892, 23652057, 25969440		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	7780062		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	25407002, 28117080, 34930753	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	25407002		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29138824		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Benign familial hematuria	Benign Hematuria	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22473740, 23108892		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	35151252	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	28704582	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27109498		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26260910	Associate	★☆☆☆☆ Found in Text Mining only
Oxalosis	Hyperoxaluria	BEFREE	23876007		★☆☆☆☆ Found in Text Mining only
Pierson syndrome	Pierson Syndrome	BEFREE	22958488		★☆☆☆☆ Found in Text Mining only
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy	BEFREE	16252232		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19799647		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	14871398, 34930753, 37986374	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	18385178, 22829758	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	30053909	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	19688274		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18818312, 19688274		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	20424598, 24480069		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	17726307, 28916834		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	12768082		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	27111861	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18485794		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	25407002, 26346198, 30065916		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	12203217		★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	11473630, 12631110, 14871398, 15880323, 16235097, 17216251, 17726307, 18439107, 19675380, 20177710, 20951199, 23516419, 24046192, 24262798, 24398087, 25307543, 25381091, 25427084, 26138234, 26346198, 26809805, 26833262, 28704582, 29764427		★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	28402931	Associate	★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	BEFREE	12203217		★☆☆☆☆ Found in Text Mining only
Urofacial syndrome	Urofacial syndrome	Pubtator	35369551	Associate	★☆☆☆☆ Found in Text Mining only
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	30883042		★☆☆☆☆ Found in Text Mining only