COL4A4 (collagen type IV alpha 4 chain)

Gene

• Entrez ID: 1286
• Gene name: Collagen type IV alpha 4 chain
• Gene symbol: COL4A4
• Synonyms (NCBI Gene): ATS2, BFH, BFH1, CA44
• Chromosome: 2
• Chromosome location: 2q36.3
• Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV colla

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35138315	G>C	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs55978207	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs114969026	T>C	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121912858	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912859	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912860	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121912861	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912862	G>T	Pathogenic	Non coding transcript variant, 3 prime UTR variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs121912863	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant, genic downstream transcript variant
rs141127013	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs181528936	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, intron variant
rs188655353	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs190148408	G>A,C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs201278620	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs201403066	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201648982	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201859109	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs368404711	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, intron variant, downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs369922627	A>C,G	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, intron variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs370474706	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs374815903	C>A,T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs375450996	C>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs533297350	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs534522842	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant, genic upstream transcript variant
rs548019779	C>G	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs548799639	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs569681869	C>G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs745672795	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs747805491	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs748473278	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs749299357	C>T	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant
rs750345987	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs754669149	C>G,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs755649235	C>T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs755927061	A>G,T	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant, intron variant
rs755961411	C>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs757328549	C>G,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs757688183	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs760795817	C>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs762139460	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs766550724	G>A	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant
rs768003309	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs769783985	C>G,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs771943519	GAGTAT>-	Likely-pathogenic, uncertain-significance	Inframe deletion, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs772517977	G>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs772699709	C>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs773081522	CTCCAGGCAAGCCAGGTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs775926807	C>T	Likely-pathogenic	3 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant
rs778043831	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs779930511	C>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs786205548	T>A	Likely-pathogenic	Intron variant
rs786205640	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs869025329	T>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs886055729	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs891854419	G>C	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant
rs926605269	C>A,G,T	Likely-pathogenic	Missense variant, intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs937550597	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs954701825	C>A,T	Likely-pathogenic	Splice donor variant
rs971779449	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs990679247	TCGATTTCCAGGATCCCC>-	Likely-pathogenic	Genic upstream transcript variant, inframe deletion, intron variant, non coding transcript variant, coding sequence variant
rs1003748020	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1005389790	C>A,T	Likely-pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1026613471	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant, genic upstream transcript variant
rs1040287646	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1064796549	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant, non coding transcript variant
rs1158350974	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1162601696	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1189502123	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1201925443	C>A,T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, missense variant
rs1203564054	TGGTGCTCCAGGCAAGCC>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, inframe deletion, coding sequence variant, intron variant
rs1206142672	GGG>-,GG,GGGG	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs1241404192	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs1271416659	C>T	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, intron variant, coding sequence variant, missense variant, genic downstream transcript variant
rs1363277825	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1367906290	C>A,T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1369097739	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1371408968	C>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant
rs1379525680	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1446915781	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1489351299	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1553611876	A>G	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553611909	G>AA	Likely-pathogenic	3 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553611947	G>A	Likely-pathogenic	Stop gained, 3 prime UTR variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs1553612309	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, missense variant, intron variant, coding sequence variant
rs1553612433	CTCGCATACCGCACAGCGGC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553612499	GGCGG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1553622675	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553624029	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553624127	->TGGT	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553625684	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553627655	GTGCTTACCTGA>-	Likely-pathogenic	Splice donor variant, intron variant, non coding transcript variant, coding sequence variant
rs1553639043	C>G	Pathogenic	Splice acceptor variant
rs1553640846	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553641611	GC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553641728	C>G	Likely-pathogenic	Splice acceptor variant
rs1553643669	->C	Pathogenic, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553644383	CCA>ACAC	Likely-pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553644402	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1553646081	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553658892	GGAACTCCTGGGTGGCCT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs1553669674	C>A	Pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant
rs1553669704	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1553676221	ACCACTTGATCCTGGGAGGCCCTGCAGGCCTGGTGCTCCAGGCAAGCCAGGT>-	Pathogenic	Splice donor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553676230	C>T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553681700	C>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553681714	T>G	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1553682895	A>G	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553683192	C>G,T	Likely-pathogenic	Splice donor variant, intron variant, genic upstream transcript variant
rs1553683757	CTGATGTTAACAGCAAATGATGCTTACCCGAGGCCCTGGAAATCCA>-	Pathogenic	Splice donor variant, coding sequence variant, genic upstream transcript variant, intron variant, non coding transcript variant
rs1553688330	CGCCCTGG>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553688335	->T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553688696	C>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553688712	GCT>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, inframe indel
rs1553690565	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553690604	->CCCT	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, splice acceptor variant
rs1553696207	A>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553712110	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1559394354	G>-	Pathogenic	Coding sequence variant, intron variant, 3 prime UTR variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1559395617	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1559396675	->AGTA	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs1559402680	C>T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1559406956	->CGTCT	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs1559429663	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559438651	C>A	Pathogenic	Splice acceptor variant
rs1559450594	->GA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559455617	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559482299	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1559493506	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559500363	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1559503562	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559508134	->TG	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1559515075	A>C	Likely-pathogenic	Splice donor variant
rs1559515185	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559563141	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559563525	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1559569975	C>T	Likely-pathogenic	Splice acceptor variant
rs1559590037	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1559594442	C>A	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559606445	AAATCCTTGTGGCCCAG>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1559617617	C>T	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559620132	C>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant, intron variant
rs1559628183	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1559631986	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559643753	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559644463	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, genic upstream transcript variant
rs1559646395	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1559677146	TC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1559742015	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1575696646	CCAG>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575714693	->CAGA	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575895541	C>GAG	Pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1575895799	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1576129421	G>T	Likely-pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1576189036	C>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1576207007	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1576238292	T>A	Likely-pathogenic	Splice acceptor variant
rs1576428862	C>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576457876	A>-	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576486164	->A	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576571835	->GACGC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1576812577	AC>TACATCA	Pathogenic	Splice donor variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022562	hsa-miR-124-3p	Microarray	18668037
MIRT029341	hsa-miR-26b-5p	Microarray	19088304
MIRT437823	hsa-miR-150-5p	Luciferase reporter assay	23604143
MIRT659421	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659420	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT659419	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT659418	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT659417	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT659416	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT659415	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659414	hsa-miR-4302	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT659421	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659420	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT659419	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT659418	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT659417	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT659416	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT659415	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT659414	hsa-miR-4302	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618302	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT618301	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT618300	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT618299	hsa-miR-1257	HITS-CLIP	23824327
MIRT618298	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT618297	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT618296	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT902874	hsa-miR-1252	CLIP-seq
MIRT902875	hsa-miR-1258	CLIP-seq
MIRT902876	hsa-miR-1262	CLIP-seq
MIRT902877	hsa-miR-2054	CLIP-seq
MIRT902878	hsa-miR-219-2-3p	CLIP-seq
MIRT902879	hsa-miR-23a	CLIP-seq
MIRT902880	hsa-miR-23b	CLIP-seq
MIRT902881	hsa-miR-23c	CLIP-seq
MIRT902882	hsa-miR-29a	CLIP-seq
MIRT902883	hsa-miR-29b	CLIP-seq
MIRT902884	hsa-miR-29c	CLIP-seq
MIRT902885	hsa-miR-302a	CLIP-seq
MIRT902886	hsa-miR-302b	CLIP-seq
MIRT902887	hsa-miR-302c	CLIP-seq
MIRT902888	hsa-miR-302d	CLIP-seq
MIRT902889	hsa-miR-302e	CLIP-seq
MIRT902890	hsa-miR-3065-5p	CLIP-seq
MIRT902891	hsa-miR-3126-3p	CLIP-seq
MIRT902892	hsa-miR-3146	CLIP-seq
MIRT902893	hsa-miR-3163	CLIP-seq
MIRT902894	hsa-miR-3176	CLIP-seq
MIRT902895	hsa-miR-330-3p	CLIP-seq
MIRT902896	hsa-miR-340	CLIP-seq
MIRT902897	hsa-miR-3646	CLIP-seq
MIRT902898	hsa-miR-3659	CLIP-seq
MIRT902899	hsa-miR-3662	CLIP-seq
MIRT902900	hsa-miR-372	CLIP-seq
MIRT902901	hsa-miR-373	CLIP-seq
MIRT902902	hsa-miR-374c	CLIP-seq
MIRT902903	hsa-miR-380	CLIP-seq
MIRT902904	hsa-miR-3914	CLIP-seq
MIRT902905	hsa-miR-3922-3p	CLIP-seq
MIRT902906	hsa-miR-421	CLIP-seq
MIRT902907	hsa-miR-4261	CLIP-seq
MIRT902908	hsa-miR-4266	CLIP-seq
MIRT902909	hsa-miR-4272	CLIP-seq
MIRT902910	hsa-miR-4281	CLIP-seq
MIRT902911	hsa-miR-4282	CLIP-seq
MIRT902912	hsa-miR-4290	CLIP-seq
MIRT902913	hsa-miR-4329	CLIP-seq
MIRT902914	hsa-miR-4446-5p	CLIP-seq
MIRT902915	hsa-miR-4476	CLIP-seq
MIRT902916	hsa-miR-4503	CLIP-seq
MIRT902917	hsa-miR-4504	CLIP-seq
MIRT902918	hsa-miR-4528	CLIP-seq
MIRT902919	hsa-miR-4658	CLIP-seq
MIRT902920	hsa-miR-4662a-3p	CLIP-seq
MIRT902921	hsa-miR-4677-3p	CLIP-seq
MIRT902922	hsa-miR-4679	CLIP-seq
MIRT902923	hsa-miR-4701-3p	CLIP-seq
MIRT902924	hsa-miR-4717-3p	CLIP-seq
MIRT902925	hsa-miR-4764-5p	CLIP-seq
MIRT902926	hsa-miR-4766-3p	CLIP-seq
MIRT902927	hsa-miR-4802-3p	CLIP-seq
MIRT902928	hsa-miR-490-5p	CLIP-seq
MIRT902929	hsa-miR-491-3p	CLIP-seq
MIRT902930	hsa-miR-498	CLIP-seq
MIRT902931	hsa-miR-511	CLIP-seq
MIRT902932	hsa-miR-514	CLIP-seq
MIRT902933	hsa-miR-514b-3p	CLIP-seq
MIRT902934	hsa-miR-519a	CLIP-seq
MIRT902935	hsa-miR-519b-3p	CLIP-seq
MIRT902936	hsa-miR-519c-3p	CLIP-seq
MIRT902937	hsa-miR-520a-3p	CLIP-seq
MIRT902938	hsa-miR-520b	CLIP-seq
MIRT902939	hsa-miR-520c-3p	CLIP-seq
MIRT902940	hsa-miR-520d-3p	CLIP-seq
MIRT902941	hsa-miR-520e	CLIP-seq
MIRT902942	hsa-miR-548p	CLIP-seq
MIRT902943	hsa-miR-574-5p	CLIP-seq
MIRT902944	hsa-miR-616	CLIP-seq
MIRT902945	hsa-miR-642b	CLIP-seq
MIRT902946	hsa-miR-655	CLIP-seq
MIRT902947	hsa-miR-767-5p	CLIP-seq
MIRT1920360	hsa-miR-1206	CLIP-seq
MIRT1920361	hsa-miR-375	CLIP-seq
MIRT1920360	hsa-miR-1206	CLIP-seq
MIRT1920361	hsa-miR-375	CLIP-seq
MIRT1921200	hsa-miR-590-3p	CLIP-seq
MIRT1920360	hsa-miR-1206	CLIP-seq
MIRT1920361	hsa-miR-375	CLIP-seq
MIRT902879	hsa-miR-23a	CLIP-seq
MIRT902880	hsa-miR-23b	CLIP-seq
MIRT902881	hsa-miR-23c	CLIP-seq
MIRT1967753	hsa-miR-299-5p	CLIP-seq
MIRT1967754	hsa-miR-3194-5p	CLIP-seq
MIRT1967755	hsa-miR-3909	CLIP-seq
MIRT1967756	hsa-miR-3919	CLIP-seq
MIRT1967757	hsa-miR-4320	CLIP-seq
MIRT1967758	hsa-miR-4493	CLIP-seq
MIRT1967759	hsa-miR-520a-5p	CLIP-seq
MIRT1967760	hsa-miR-525-5p	CLIP-seq
MIRT1967761	hsa-miR-576-5p	CLIP-seq
MIRT902947	hsa-miR-767-5p	CLIP-seq
MIRT1967762	hsa-miR-885-3p	CLIP-seq
MIRT2203586	hsa-miR-1207-5p	CLIP-seq
MIRT2203587	hsa-miR-1827	CLIP-seq
MIRT2203588	hsa-miR-185	CLIP-seq
MIRT902879	hsa-miR-23a	CLIP-seq
MIRT902880	hsa-miR-23b	CLIP-seq
MIRT902881	hsa-miR-23c	CLIP-seq
MIRT902882	hsa-miR-29a	CLIP-seq
MIRT902883	hsa-miR-29b	CLIP-seq
MIRT902884	hsa-miR-29c	CLIP-seq
MIRT902893	hsa-miR-3163	CLIP-seq
MIRT2203589	hsa-miR-3180-5p	CLIP-seq
MIRT2203590	hsa-miR-338-3p	CLIP-seq
MIRT2203591	hsa-miR-3612	CLIP-seq
MIRT2203592	hsa-miR-3915	CLIP-seq
MIRT2203593	hsa-miR-3928	CLIP-seq
MIRT2203594	hsa-miR-4257	CLIP-seq
MIRT2203595	hsa-miR-4270	CLIP-seq
MIRT2203596	hsa-miR-4306	CLIP-seq
MIRT2203597	hsa-miR-4441	CLIP-seq
MIRT902915	hsa-miR-4476	CLIP-seq
MIRT2203598	hsa-miR-4530	CLIP-seq
MIRT2203599	hsa-miR-4644	CLIP-seq
MIRT2203600	hsa-miR-4760-5p	CLIP-seq
MIRT2203601	hsa-miR-4763-3p	CLIP-seq
MIRT2203602	hsa-miR-4773	CLIP-seq
MIRT902934	hsa-miR-519a	CLIP-seq
MIRT902935	hsa-miR-519b-3p	CLIP-seq
MIRT902936	hsa-miR-519c-3p	CLIP-seq
MIRT2203603	hsa-miR-532-3p	CLIP-seq
MIRT1921200	hsa-miR-590-3p	CLIP-seq
MIRT2203604	hsa-miR-650	CLIP-seq
MIRT2203605	hsa-miR-940	CLIP-seq
MIRT2447443	hsa-miR-1292	CLIP-seq
MIRT2447444	hsa-miR-186	CLIP-seq
MIRT2447445	hsa-miR-2110	CLIP-seq
MIRT2447446	hsa-miR-3133	CLIP-seq
MIRT2447447	hsa-miR-3908	CLIP-seq
MIRT2447448	hsa-miR-4271	CLIP-seq
MIRT2447449	hsa-miR-4725-3p	CLIP-seq
MIRT2447443	hsa-miR-1292	CLIP-seq
MIRT2447444	hsa-miR-186	CLIP-seq
MIRT2447445	hsa-miR-2110	CLIP-seq
MIRT2447446	hsa-miR-3133	CLIP-seq
MIRT2447447	hsa-miR-3908	CLIP-seq
MIRT2447448	hsa-miR-4271	CLIP-seq
MIRT2447449	hsa-miR-4725-3p	CLIP-seq
MIRT2447443	hsa-miR-1292	CLIP-seq
MIRT2447444	hsa-miR-186	CLIP-seq
MIRT2447445	hsa-miR-2110	CLIP-seq
MIRT2447446	hsa-miR-3133	CLIP-seq
MIRT2447447	hsa-miR-3908	CLIP-seq
MIRT2447448	hsa-miR-4271	CLIP-seq
MIRT2447449	hsa-miR-4725-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LMX1B	Activation	11175791

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IMP	17942953, 19675380
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	7523402
GO:0005587	Component	Collagen type IV trimer	IEA
GO:0005604	Component	Basement membrane	IDA	2211832
GO:0005604	Component	Basement membrane	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031012	Component	Extracellular matrix	IBA
GO:0032836	Process	Glomerular basement membrane development	IBA
GO:0032836	Process	Glomerular basement membrane development	IEA
GO:0032836	Process	Glomerular basement membrane development	IMP	17942953, 19675380
GO:0060090	Function	Molecular adaptor activity	EXP	30443360

Other IDs

• MIM: 120131
• HGNC: 2206
• e!Ensembl: ENSG00000081052

Protein

• UniProt ID: P53420
• Protein name: Collagen alpha-4(IV) chain
• 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.
• PDB: 5NB1, 6WKU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	62 → 121	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	118 → 176	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	181 → 238	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	296 → 360	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	365 → 428	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	400 → 457	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	494 → 559	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	906 → 967	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	969 → 1029	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1015 → 1080	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1082 → 1141	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1133 → 1195	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1196 → 1253	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1313 → 1372	Collagen triple helix repeat (20 copies)	Repeat
  PF01413	C4	1466 → 1571	C-terminal tandem repeated domain in type 4 procollagen	Domain
  PF01413	C4	1574 → 1688	C-terminal tandem repeated domain in type 4 procollagen	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in Bruch's membrane, outer plexiform layer, inner nuclear layer, inner plexiform layer, ganglion cell layer, inner limiting membrane and around the blood vessels of the retina (at protein level) (PubMed:29777959). Alpha 3 and
• Sequence:

  MWSLHIVLMRCSFRLTKSLATGPWSLILILFSVQYVYGSGKKYIGPCGGRDCSVCHCVPE
  KGSRGPPGPPGPQGPIGPLGAPGPIGLSGEKGMRGDRGPPGAAGDKGDKGPTGVPGFPGL
  DGIPGHPGPPGPRGKPGMSGHNGSRGDPGFPGGRGALGPGGPLGHPGEKGEKGNSVFILG
  AVKGIQGDRGDPGLPGLPGSWGAGGPAGPTGYPGEPGLVGPPGQPGRPGLKGNPGVGVKG
  QMGDPGEVGQQGSPGPTLLVEPPDFCLYKGEKGIKGIPGMVGLPGPPGRKGESGIGAKGE
  KGIPGFPGPRGDPGSYGSPGFPGLKGELGLVGDPGLFGLIGPKGDPGNRGHPGPPGVLVT
  PPLPLKGPPGDPGFPGRYGETGDVGPPGPPGLLGRPGEACAGMIGPPGPQGFPGLPGLPG
  EAGIPGRPDSAPGKPGKPGSPGLPGAPGLQGLPGSSVIYCSVGNPGPQGIKGKVGPPGGR
  GPKGEKGNEGLCACEPGPMGPPGPPGLPGRQGSKGDLGLPGWLGTKGDPGPPGAEGPPGL
  PGKHGASGPPGNKGAKGDMVVSRVKGHKGERGPDGPPGFPGQPGSHGRDGHAGEKGDPGP
  PGDHEDATPGGKGFPGPLGPPGKAGPVGPPGLGFPGPPGERGHPGVPGHPGVRGPDGLKG
  QKGDTISCNVTYPGRHGPPGFDGPPGPKGFPGPQGAPGLSGSDGHKGRPGTPGTAEIPGP
  PGFRGDMGDPGFGGEKGSSPVGPPGPPGSPGVNGQKGIPGDPAFGHLGPPGKRGLSGVPG
  IKGPRGDPGCPGAEGPAGIPGFLGLKGPKGREGHAGFPGVPGPPGHSCERGAPGIPGQPG
  LPGYPGSPGAPGGKGQPGDVGPPGPAGMKGLPGLPGRPGAHGPPGLPGIPGPFGDDGLPG
  PPGPKGPRGLPGFPGFPGERGKPGAEGCPGAKGEPGEKGMSGLPGDRGLRGAKGAIGPPG
  DEGEMAIISQKGTPGEPGPPGDDGFPGERGDKGTPGMQGRRGEPGRYGPPGFHRGEPGEK
  GQPGPPGPPGPPGSTGLRGFIGFPGLPGDQGEPGSPGPPGFSGIDGARGPKGNKGDPASH
  FGPPGPKGEPGSPGCPGHFGASGEQGLPGIQGPRGSPGRPGPPGSSGPPGCPGDHGMPGL
  RGQPGEMGDPGPRGLQGDPGIPGPPGIKGPSGSPGLNGLHGLKGQKGTKGASGLHDVGPP
  GPVGIPGLKGERGDPGSPGISPPGPRGKKGPPGPPGSSGPPGPAGATGRAPKDIPDPGPP
  GDQGPPGPDGPRGAPGPPGLPGSVDLLRGEPGDCGLPGPPGPPGPPGPPGYKGFPGCDGK
  DGQKGPVGFPGPQGPHGFPGPPGEKGLPGPPGRKGPTGLPGPRGEPGPPADVDDCPRIPG
  LPGAPGMRGPEGAMGLPGMRGPSGPGCKGEPGLDGRRGVDGVPGSPGPPGRKGDTGEDGY
  PGGPGPPGPIGDPGPKGFGPGYLGGFLLVLHSQTDQEPTCPLGMPRLWTGYSLLYLEGQE
  KAHNQDLGLAGSCLPVFSTLPFAYCNIHQVCHYAQRNDRSYWLASAAPLPMMPLSEEAIR
  PYVSRCAVCEAPAQAVAVHSQDQSIPPCPQTWRSLWIGYSFLMHTGAGDQGGGQALMSPG
  SCLEDFRAAPFLECQGRQGTCHFFANKYSFWLTTVKADLQFSSAPAPDTLKESQAQRQKI
  SRCQVCVKYS

• Sequence length: 1690

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	rs2149720724, rs766243664, rs1408907127, rs373150214, rs2149720690, rs1222429942, rs2150221409, rs781479400, rs772659513, rs1967312678, rs2476238585, rs2474163378, rs1553676221, rs2475417678, rs1973128133, rs121912861, rs374815903, rs1553683757, rs35138315, rs778043831, rs768003309, rs1553643669, rs1553644402, rs779930511, rs1553611947, rs1446915781, rs1553683192, rs1489351299, rs1203564054, rs773081522, rs1553695389, rs769783985, rs1553676230, rs1553681714, rs1559617617, rs1559395617, rs1040287646, rs1241404192, rs1559606445, rs141127013, rs2060674137, rs267599231, rs2059733367, rs1963392922, rs1433065763, rs929684384, rs781360383, rs1976320157, rs372606845, rs2059360185, rs2061393958, rs1962591629, rs2060994526	RCV004789563 RCV001831350 RCV004789567 RCV001795873 RCV004785332 RCV004785340 RCV005614752 RCV005636763 RCV004786737 RCV005616461 RCV005616476 RCV005616554 RCV004786634 RCV003223469 RCV004786961 RCV001328062 RCV001833487 RCV006257299 RCV001277168 RCV001829830 RCV006249666 RCV004788096 RCV004788105 RCV005632608 RCV005614433 RCV004788103 RCV001829860 RCV004788104 RCV004788097 RCV002221245 RCV005632619 RCV004788085 RCV001829854 RCV001829867 RCV004788110 RCV004788112 RCV001829889 RCV001277171 RCV005614445 RCV001827173 RCV005614487 RCV004787207 RCV001195696 RCV001328061 RCV001835097 RCV001829964 RCV005634001 RCV004789497 RCV001328134 RCV003994250 RCV001328064 RCV004789510 RCV006249736	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant Alport syndrome	Likely pathogenic; Pathogenic	rs2149745228, rs1364773011, rs1206142672, rs768245333, rs1553676221, rs1414596849, rs2473276557, rs2473714807, rs121912861, rs1553622675, rs1553625684, rs1553639043, rs369922627, rs1553658892, rs926605269, rs769783985, rs1553681714, rs1559394354, rs1559455617, rs1559563141, rs1559563525, rs1559594442, rs1559606445, rs1559620132, rs1005389790, rs923865420, rs1559644463, rs1559646395, rs1559628183, rs1271416659, rs1575714693, rs1576207007, rs1576428862, rs1576457876, rs760795817, rs1576129421, rs750345987, rs1575696646, rs1003748020, rs1576571835, rs1576812577, rs2059732983, rs2060340440, rs2060622881, rs2060993180, rs377058706, rs1976595425, rs2060994755	RCV001814715 RCV005638603 RCV002221395 RCV002243539 RCV000625569 RCV003324604 RCV003324651 RCV003494093 RCV000787008 RCV000625562 RCV000625680 RCV000625686 RCV000850092 RCV001029981 RCV001788315 RCV001029878 RCV003994075 RCV000735681 RCV000735722 RCV000735736 RCV000735781 RCV000735674 RCV000735751 RCV000735767 RCV000735782 RCV000735768 RCV000735750 RCV000735719 RCV000735812 RCV000786869 RCV000786976 RCV000787020 RCV000786955 RCV000786996 RCV000786980 RCV000853057 RCV001003412 RCV001029891 RCV001029868 RCV001029984 RCV001029797 RCV001089913 RCV001089912 RCV001089911 RCV001290438 RCV001280823 RCV001280829 RCV001280824	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive Alport syndrome	Likely pathogenic; Pathogenic	rs747167770, rs2149720724, rs766243664, rs2125038490, rs1408907127, rs2149722718, rs761200469, rs1971796422, rs2150221180, rs755478262, rs2149956832, rs1973128133, rs2150505385, rs2150750057, rs751952236, rs2150474860, rs2150595867, rs1387537859, rs1372782305, rs1402343399, rs2149745228, rs2149720690, rs2150787516, rs2150687684, rs1364773011, rs2150275391, rs764981982, rs1977400475, rs2150739953, rs374340855, rs2149721718, rs2150596830, rs2124925120, rs2150234491, rs2149854376, rs2124998835, rs1005389790, rs2150793962, rs2474006520, rs2060521689, rs774471575, rs1213277033, rs2474218124, rs2474010076, rs2473008834, rs2474078466, rs2473972925, rs2475458276, rs2473939660, rs2474222643, rs1244937877, rs2475082705, rs2473974445, rs1351388457, rs2473342112, rs2059734968, rs2474161328, rs2473939910, rs2473720581, rs2473692907, rs2474224740, rs1968590611, rs1045939403, rs2473355271, rs2473967532, rs2125291573, rs2473343738, rs2475419713, rs2474117368, rs2475254533, rs765866000, rs2473865757, rs2474224530, rs2474117528, rs2473691099, rs2473939208, rs2474721255, rs2473974398, rs2474719709, rs2475772649, rs2473003981, rs2474220383, rs2475811047, rs2476899667, rs2473972556, rs2476136983, rs2473863644, rs2477162674, rs2474225085, rs2474786672, rs2475085768, rs2472735627, rs2473349464, rs2474215752, rs2475788149, rs1967312678, rs2473718276, rs2476238585, rs2475529342, rs2474121090, rs2473010935, rs2475418667, rs1553676221, rs2474252483, rs753818949, rs1194269620, rs2476903185, rs2472617038, rs2474010597, rs2472603497, rs1976367934, rs778161679, rs2475551311, rs2473354582, rs760795817, rs2474160561, rs2473284144, rs2473007651, rs2474221510, rs2472680030, rs2473719440, rs2472679125, rs1968566020, rs1479278183, rs2150149041, rs2474118082, rs2475886228, rs2473357313, rs2472735253, rs1353512742, rs2476245865, rs2472679338, rs2476242345, rs121912858, rs121912859, rs121912860, rs121912861, rs121912862, rs2472612326, rs2476902451, rs764242946, rs2475022046, rs2475031974, rs1197476541, rs1968071233, rs1258499665, rs373150214, rs2150235414, rs2473864723, rs2474116574, rs2473690796, rs2473005339, rs2476235922, rs374815903, rs1553627655, rs1363277825, rs1553690565, rs1553641611, rs1189502123, rs534522842, rs1553683757, rs375450996, rs745672795, rs35138315, rs1553611876, rs1553612433, rs1553639043, rs1553612309, rs1206142672, rs369922627, rs1553614863, rs1553624127, rs778043831, rs1553641728, rs768003309, rs1553643669, rs1553644402, rs1553658892, rs954701825, rs1553669704, rs779930511, rs926605269, rs1553612499, rs891854419, rs755927061, rs1553611947, rs1553624173, rs1446915781, rs1553682895, rs1553683192, rs1489351299, rs1553688712, rs748473278, rs1553690604, rs1553696207, rs937550597, rs1553611909, rs1203564054, rs773081522, rs1553688330, rs1553695389, rs754669149, rs1553712110, rs1369097739, rs371172166, rs769783985, rs201648982, rs1553676230, rs1553681714, rs1553688696, rs1201925443, rs1559515075, rs1162601696, rs1559508134, rs757688183, rs1040287646, rs1241404192, rs1559569975, rs1559563525, rs923865420, rs1559646395, rs1559742015, rs1575895541, rs1271416659, rs1576207007, rs1576428862, rs141127013, rs1974295317, rs2059732983, rs1962628992, rs2059821994, rs1975778377, rs1963392922, rs754706338, rs1433065763, rs929684384, rs1963379793, rs1963402519, rs1963420059, rs781360383, rs1968585119, rs1968850188, rs1973758214, rs372413045, rs1976337637, rs2059121113, rs2060086619, rs2060993539, rs2061397001, rs776036994, rs2060993180, rs2061393783, rs1976320157, rs778345125, rs1963884904, rs1968848668, rs1971610561, rs1971792460, rs1973132502, rs1973140216, rs1973992894, rs746105339, rs1974009894, rs768902127, rs1976602205, rs2059119564, rs2059358378, rs2060519888, rs34509421, rs2061755379, rs372606845, rs2059360185, rs2061393958, rs377058706, rs1962591629, rs1559594442, rs2060994526	RCV001330984 RCV006256403 RCV005005231 RCV005005227 RCV005023126 RCV005408885 RCV006256406 RCV006256407 RCV005023148 RCV001391123 RCV006256897 RCV005014579 RCV005023186 RCV002307751 RCV001822948 RCV005005264 RCV005014635 RCV006256917 RCV001807901 RCV001808118 RCV005868373 RCV001814715 RCV001837596 RCV005017038 RCV002307780 RCV005023410 RCV005016900 RCV005054394 RCV005005303 RCV005016951 RCV005868425 RCV006257022 RCV006257023 RCV006257024 RCV005868550 RCV002225181 RCV002250836 RCV005252145 RCV006255386 RCV002273873 RCV002283912 RCV002294583 RCV005025772 RCV002306730 RCV002309538 RCV002309549 RCV002309668 RCV002309805 RCV002309871 RCV002309886 RCV002310036 RCV002307863 RCV002307924 RCV002308000 RCV002308274 RCV002308288 RCV002308307 RCV002309101 RCV002309104 RCV002309149 RCV002309224 RCV002309237 RCV002309238 RCV002309286 RCV002309331 RCV002309385 RCV002309404 RCV002309438 RCV002309459 RCV002309460 RCV002309528 RCV002306851 RCV002306929 RCV002306933 RCV002306954 RCV002306982 RCV002307044 RCV002307053 RCV002307084 RCV002307106 RCV002307117 RCV002307212 RCV002310113 RCV002310218 RCV002310279 RCV002310331 RCV002310457 RCV002310459 RCV002310489 RCV002310535 RCV002310547 RCV002308390 RCV002308405 RCV002308429 RCV002468836 RCV005019212 RCV005021595 RCV005019391 RCV005019415 RCV005027980 RCV005019505 RCV005019568 RCV005028130 RCV005028138 RCV000995515 RCV003148431 RCV003153023 RCV003230847 RCV003236332 RCV003333864 RCV003337938 RCV005021924 RCV003989840 RCV005030028 RCV006255898 RCV004577617 RCV003484553 RCV005022006 RCV005416138 RCV005014810 RCV005030143 RCV005030167 RCV005014866 RCV005014869 RCV005015100 RCV003984928 RCV003984952 RCV003984958 RCV003988429 RCV003990848 RCV003991164 RCV003991207 RCV003991367 RCV003991375 RCV003991382 RCV003991995 RCV000018947 RCV000018948 RCV000666567 RCV000018950 RCV000018951 RCV004546886 RCV004545948 RCV004566431 RCV004566449 RCV004555131 RCV004555303 RCV004555341 RCV004555394 RCV004555412 RCV004555462 RCV004555466 RCV004555504 RCV004555725 RCV004556893 RCV004587781 RCV000408863 RCV000505574 RCV000505643 RCV000505603 RCV000509590 RCV000984249 RCV001281284 RCV003989548 RCV000667558 RCV005018879 RCV000763076 RCV000625631 RCV000625630 RCV006255752 RCV000669861 RCV000667142 RCV000673399 RCV000671292 RCV000670267 RCV000665226 RCV000669870 RCV000672416 RCV000671532 RCV000673938 RCV000666239 RCV000671388 RCV000672440 RCV000670337 RCV000669401 RCV000672397 RCV000674209 RCV000672931 RCV000669796 RCV000664545 RCV000672904 RCV000673074 RCV000666026 RCV000669774 RCV000673590 RCV000669987 RCV000673233 RCV000673584 RCV000670731 RCV000665368 RCV000673823 RCV000671800 RCV000667405 RCV000669739 RCV000673705 RCV000670811 RCV000670500 RCV000669564 RCV000667417 RCV000665227 RCV000669439 RCV000671787 RCV000669220 RCV000670823 RCV000669811 RCV000670484 RCV006255778 RCV006255779 RCV006255780 RCV006255781 RCV002512124 RCV005021046 RCV006255808 RCV006255822 RCV005021144 RCV006255818 RCV005029423 RCV000859981 RCV003989602 RCV006255827 RCV005029446 RCV005004420 RCV006256221 RCV001089934 RCV005005034 RCV001089930 RCV001171499 RCV001264178 RCV005021536 RCV001809999 RCV005005109 RCV006256320 RCV005029832 RCV001281127 RCV001281126 RCV001281125 RCV001281123 RCV001281122 RCV001281121 RCV001281291 RCV001281290 RCV001281289 RCV001281288 RCV001281286 RCV001281131 RCV001281128 RCV005005126 RCV001281132 RCV001281130 RCV001281129 RCV006256332 RCV004796390 RCV001263887 RCV001263888 RCV001263889 RCV001264049 RCV001264050 RCV001264051 RCV001264052 RCV001264053 RCV001264054 RCV001264055 RCV001264056 RCV001264175 RCV001264176 RCV001264177 RCV001264179 RCV001264180 RCV001264181 RCV001264182 RCV001810012 RCV005005133 RCV005029853 RCV003336370 RCV001280875 RCV001280848 RCV006256341	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign familial hematuria	Likely pathogenic; Pathogenic	rs2149720724, rs2125038490, rs2149722718, rs761200469, rs755478262, rs2149956832, rs1973128133, rs2150505385, rs2150219160, rs2150474860, rs2150595867, rs2150877933, rs2125387640, rs1553640846, rs374340855, rs2149721718, rs2150596830, rs2150477599, rs1005389790, rs2149981074, rs2150506036, rs1553612309, rs2474215752, rs2477329625, rs1968845280, rs772659513, rs1553676221, rs869025329, rs2475774780, rs2474719777, rs2475551311, rs121912859, rs121912860, rs121912861, rs374815903, rs1553690565, rs375450996, rs35138315, rs1553639043, rs954701825, rs891854419, rs773081522, rs1559438651, rs1559515075, rs1162601696, rs1559508134, rs757688183, rs1559569975, rs1559563525, rs923865420, rs1559646395, rs1559742015, rs1559643753, rs1576207007, rs141127013, rs2059732983, rs2060340440, rs2060622881, rs760795817, rs1433065763, rs929684384, rs776036994, rs1976320157, rs755233004, rs112204566, rs778345125, rs1559594442, rs2060994526	RCV006256403 RCV002468634 RCV006256406 RCV006256407 RCV006256897 RCV006256898 RCV006256901 RCV006256902 RCV001726708 RCV001754542 RCV006256917 RCV001837597 RCV002468647 RCV002468648 RCV006257022 RCV006257023 RCV006257024 RCV002250870 RCV006255386 RCV002274277 RCV002274281 RCV002468835 RCV002468837 RCV002468839 RCV005239447 RCV006269699 RCV003313947 RCV000207864 RCV003152924 RCV003236649 RCV003335819 RCV006255898 RCV006255319 RCV000018949 RCV001251501 RCV001251466 RCV002289691 RCV006255700 RCV001542734 RCV006255752 RCV006255775 RCV006255777 RCV003236586 RCV003233810 RCV006255778 RCV006255779 RCV006255780 RCV006255781 RCV006255808 RCV006255822 RCV002249448 RCV006255818 RCV000770975 RCV000785885 RCV006255827 RCV006256221 RCV001089913 RCV001089912 RCV001089911 RCV002468621 RCV006256321 RCV001251470 RCV001281287 RCV006256332 RCV001251503 RCV001251515 RCV001254146 RCV006256340 RCV001280874	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chronic kidney disease	Pathogenic; Likely pathogenic	rs35138315, rs1962628992, rs1976595133	RCV001171331 RCV001171341 RCV001254909	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
COL4A4-related disorder	Likely pathogenic; Pathogenic	rs747167770, rs766243664, rs2150219679, rs2150805456, rs764981982, rs2150739953, rs1976367934, rs1364773011, rs2473864723, rs778161679, rs377511303, rs2476138261, rs2473400519, rs779584531, rs371915593, rs1968566020, rs121912861, rs375450996, rs35138315, rs778043831, rs371172166, rs954701825, rs1559677146, rs1040287646, rs141127013, rs754706338, rs776036994, rs372606845	RCV004727155 RCV004531188 RCV004531197 RCV004738280 RCV004538682 RCV004538579 RCV004531600 RCV004531701 RCV004529344 RCV004536727 RCV004529803 RCV004529265 RCV004527996 RCV004531615 RCV004532004 RCV004539402 RCV004528124 RCV004545780 RCV002279957 RCV004544926 RCV004527726 RCV004737943 RCV004723061 RCV004527737 RCV004536046 RCV004528431 RCV004538531 RCV004738225	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diffuse mesangial sclerosis	Likely pathogenic	rs1553695389	RCV002284205	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Disease of glomerular basement membrane	Pathogenic	rs2149743538, rs1559569975, rs754706338	RCV001849702 RCV001849703 RCV001849486	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis	Likely pathogenic; Pathogenic	rs2125000621, rs754706338	RCV001842228 RCV001849485	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glomerulonephritis	Pathogenic	rs778043831	RCV001580287	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hematuria	Likely pathogenic; Pathogenic	rs2473972556, rs35138315, rs1553669704, rs1367906290, rs1271416659, rs1968590611, rs1971618196	RCV006272100 RCV006254094 RCV006254133 RCV006254135 RCV006436899 RCV001328135 RCV001328136	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hematuria, benign familial, 1	Likely pathogenic; Pathogenic	rs747167770, rs766243664, rs2125038490, rs1408907127, rs1971796422, rs2149956832, rs1973128133, rs751952236, rs2150474860, rs1402343399, rs2150787516, rs1364773011, rs2150275391, rs764981982, rs1977400475, rs2150234491, rs2150250774, rs1005389790, rs774471575, rs1351388457, rs2059734968, rs2473939910, rs2474215752, rs2477329625, rs2475788149, rs1967312678, rs2473718276, rs1360606073, rs2476238585, rs2475529342, rs2474121090, rs2473010935, rs2475418667, rs1553676221, rs2472603497, rs778161679, rs2473354582, rs2474160561, rs2473007651, rs2474221510, rs2472680030, rs2473719440, rs2472679125, rs1968566020, rs121912860, rs121912861, rs1559493506, rs769783985, rs2475531254, rs2475031974, rs373150214, rs2476235922, rs374815903, rs1363277825, rs1553690565, rs1189502123, rs534522842, rs745672795, rs35138315, rs1206142672, rs369922627, rs778043831, rs1553641728, rs1553658892, rs1553669704, rs779930511, rs755927061, rs1553624173, rs1553682895, rs1553683192, rs1489351299, rs748473278, rs937550597, rs1203564054, rs1553688330, rs1553695389, rs754669149, rs371172166, rs954701825, rs1553681714, rs1553688696, rs1040287646, rs1241404192, rs923865420, rs1559742015, rs1575895541, rs1576428862, rs760795817, rs2059732983, rs1975778377, rs1963392922, rs754706338, rs929684384, rs372413045, rs776036994, rs2060993180, rs778345125, rs372606845, rs2059360185, rs2061393958, rs1962591629	RCV005014440 RCV005005231 RCV005005227 RCV005023126 RCV005005241 RCV005023148 RCV005014579 RCV005023186 RCV005005264 RCV005014635 RCV005023265 RCV005017038 RCV005023410 RCV005016900 RCV005054394 RCV005005303 RCV005016951 RCV005025730 RCV003994412 RCV005025754 RCV005025772 RCV005025790 RCV005019176 RCV005025791 RCV005019212 RCV005429082 RCV005021595 RCV005019391 RCV005019415 RCV004782964 RCV005027980 RCV005019505 RCV005019568 RCV005028130 RCV005028138 RCV005003588 RCV005021924 RCV005030028 RCV005030058 RCV005022006 RCV005014810 RCV005030143 RCV005030167 RCV005014866 RCV005014869 RCV005015100 RCV004576907 RCV005025069 RCV004576908 RCV004576909 RCV004549024 RCV005015181 RCV005015183 RCV005023586 RCV005018700 RCV005027587 RCV005027586 RCV005001071 RCV005004209 RCV005018879 RCV005027605 RCV005019116 RCV005004350 RCV004788084 RCV005027805 RCV005004327 RCV005019147 RCV005019137 RCV005019151 RCV005019100 RCV005027819 RCV005004338 RCV005019158 RCV005027820 RCV005004324 RCV005004346 RCV005019134 RCV005019160 RCV005027807 RCV005027789 RCV005004345 RCV005019141 RCV005019135 RCV005004362 RCV005021046 RCV005021144 RCV005029423 RCV005021174 RCV005029446 RCV005004420 RCV005005034 RCV005021437 RCV005021536 RCV005014281 RCV005005109 RCV005029832 RCV005029845 RCV005005126 RCV005029843 RCV004796390 RCV004796401 RCV005005133 RCV005029853 RCV005005138	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney damage	Likely pathogenic; Pathogenic	rs121912861	RCV001526639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney disorder	Likely pathogenic	rs774471575	RCV002294670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meniere disease	Likely pathogenic	rs1003748020	RCV004570083	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome	Likely pathogenic; Pathogenic	rs534522842, rs2059360185, rs2060521579, rs2063103741	RCV001328133 RCV001328132 RCV001328131 RCV001328185	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2060993180	RCV005909207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease	Pathogenic	rs779584531	RCV002250776	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2060993180, rs372606845	RCV005909208 RCV005909316	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE STAGE 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	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	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEMATURIA, BENIGN FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperkalemia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ 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	Conflicting classifications of pathogenicity	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	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microscopic hematuria	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porencephaly 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stage 5 chronic kidney disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steroid-resistant nephrotic syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thrombocytopenia	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine corpus endometrial carcinoma	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Alport syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alport Syndrome	Alport Syndrome	BEFREE	10200983, 10460935, 10499074, 10534397, 11134255, 11473630, 11572889, 12028435, 12203217, 12748344, 14582039, 19129241, 19937058, 21455721, 23144074, 23551117, 23732293, 24398087, 24854265, 25229338, 25307543, 25381091, 25427084, 28542346, 29138824, 30883042, 31576025, 31686460, 7783412, 7783419, 8661006, 9195222, 9848783		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alport Syndrome	Alport Syndrome	GENOMICS_ENGLAND_DG	24052634		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	Alport Syndrome	CLINVAR_DG	12325029, 12748344, 14582039, 15954103, 16338941, 17396119, 19129241, 24052634, 24633401, 24854265, 25307543, 25525159, 25596306, 25755845, 26809805, 26934356, 27281700, 28542346, 28632965, 9792860		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	Alport Syndrome	GENOMICS_ENGLAND_DG	24052634, 25381091		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE	Alport Syndrome	UNIPROT_DG	7987396, 9792860		★☆☆☆☆ Found in Text Mining only
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT	Alport Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Dominant	Alport Syndrome	ORPHANET_DG	11572889, 15086897, 19129241, 9269635		★☆☆☆☆ 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	27934798, 29742505, 9269635		★☆☆☆☆ Found in Text Mining only
Alport Syndrome, Autosomal Recessive	Alport Syndrome	BEFREE	10074584, 10499074, 11318937, 12325029, 12631110, 15954103, 17216251, 17726307, 22887978, 24052634, 24633401, 29742505, 29873249, 30745910, 31686460, 9269635, 9792860		★☆☆☆☆ 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	ORPHANET_DG	11572889, 15086897, 19129241, 9269635		★☆☆☆☆ 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, 16235097, 16338941, 17396119, 20177710, 21897443, 22350371, 23144074, 24033287, 26809805, 30883042		★☆☆☆☆ 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 + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Andersen Syndrome	Andersen Syndrome	BEFREE	12768082, 16338941, 17396119, 20177710, 21897443, 23144074, 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, 20177710, 21897443, 23144074, 24033287, 26809805		★☆☆☆☆ 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)
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31746384, 35529267	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17942953, 21688191, 30661074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Kidney Diseases	Kidney Disease	BEFREE	17942953, 19357112, 21688191		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36581816	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	19129241	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	19360286	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	24052634, 29551517	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	35842573	Associate	★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	12028435, 19357112, 20951199, 22228437, 24398087, 29138824		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	17942953, 18661361, 19357112, 25229338, 25427084, 25514610, 27469977, 29138824, 29669314, 31096240, 31254113		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	28726551	Associate	★☆☆☆☆ 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, 27469977, 29138824, 31096240, 33159707, 33854215, 36292665, 36646731	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	24052634, 35114279, 37895203	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	23349334, 29551517	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria	Hematuria	Pubtator	11318937, 11473630, 12028435, 12631110, 14871398, 15882279, 25514610, 29551517, 33159707, 34212557, 34964757, 35474271, 37872228, 37895203	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hematuria Benign Familial	Hematuria	Pubtator	11318937, 11473630, 12028435, 12631110, 14871398, 17396119, 19675380, 23516419, 24854265, 25355442, 26833262, 29138824, 29764427, 31288791, 34400539, 35369551, 36292665, 8787673	Associate	★☆☆☆☆ Found in Text Mining only
Hematuria, Benign Familial	Hematuria	BEFREE	10460935, 11685592, 12028435, 12748344, 12768082, 14582039, 16235097, 17396119, 19129241, 19937058, 24854265, 29742505, 7055992, 8787673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, Benign Familial	Hematuria	UNIPROT_DG	11961012, 12631110, 8787673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, Benign Familial	Hematuria	GENOMICS_ENGLAND_DG	24052634		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, Benign Familial	Hematuria	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematuria, Benign Familial	Hematuria	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary nephritis	Hereditary Nephritis	LHGDN	12028435, 12325029, 12768082, 15954103, 16895672, 17396119		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
hypertensive nephropathy	Hypertensive Nephropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	33854215	Associate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	20029656, 23289806, 25083577, 25651396, 31077021		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	20029656, 20664914	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20951199, 23349334, 24398087, 25307543, 25381091, 27469977, 29669314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	23349334, 25229338, 25381091, 29551517, 31096240, 36514391, 37248651, 38317457, 39907758, 40770708	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	14582039, 17942953, 27627812		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	15086897, 27934798, 29551517, 33854215, 37895203, 40770708	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17942953, 21688191, 30661074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	LHGDN	17942953, 18661361		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasms	Kidney neoplasm	Pubtator	34212557	Associate	★☆☆☆☆ Found in Text Mining only
Mesangial sclerosis diffuse	Diffuse mesangial sclerosis	Pubtator	25381091	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	39913008	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myopia	Myopia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephritis	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	23349334, 33854215	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuropathy	Neuropathy	BEFREE	29138824		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Benign familial hematuria	Benign Hematuria	Orphanet			★☆☆☆☆ Found in Text Mining only
Oguchi disease	Oguchi disease	Pubtator	39913008	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	8787673	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28814842		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	19129241	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	33159707, 34212557, 34964757, 37895203	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35513865	Associate	★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	21327778		★☆☆☆☆ 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
Retinal lattice degeneration	Retinal Lattice Degeneration	BEFREE	22723992		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	27111861	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23349334		★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	BEFREE	11473630, 12631110, 14871398, 15880327, 16235097, 17216251, 17942953, 18439107, 19675380, 20177710, 20951199, 21688191, 23516419, 24398087, 25229338, 25307543, 25381091, 25427084, 26809805, 26833262, 29669314, 29764427, 31288791		★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Thin basement membrane disease	Thin Basement Membrane Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ 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