NPHS1 (NPHS1 adhesion molecule, nephrin)

Gene

• Entrez ID: 4868
• Gene name: NPHS1 adhesion molecule, nephrin
• Gene symbol: NPHS1
• Synonyms (NCBI Gene): CNF, NPHN, nephrin
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939695	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign, pathogenic	Coding sequence variant, missense variant
rs34124941	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs35238405	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant
rs114203578	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs114849139	C>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs114896482	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs115333628	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs116700257	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137853042	G>A	Pathogenic	Coding sequence variant, stop gained
rs138656762	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs140018064	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs142008044	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs143092783	G>A,T	Likely-pathogenic, benign, likely-benign	Missense variant, coding sequence variant
rs150038620	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Splice acceptor variant
rs150855173	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs191807913	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs200253809	G>A,C,T	Benign, likely-pathogenic	Intron variant
rs200905486	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267606917	A>G	Pathogenic	Missense variant, coding sequence variant
rs267606919	G>A	Pathogenic	Coding sequence variant, stop gained
rs369410355	G>-,GG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833862	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833863	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833864	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833865	G>A	Pathogenic	Coding sequence variant, missense variant
rs386833866	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833867	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833868	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833869	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs386833870	GC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833871	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs386833872	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs386833874	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833875	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833876	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833877	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833878	->GT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833879	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833880	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs386833881	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833883	G>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs386833884	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833885	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833886	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833887	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs386833888	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833889	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs386833890	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833891	GGGGCGGCCACGCCCTCCAGCCTGTGGAACCGGGGT>-	Pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs386833892	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833893	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833894	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833895	C>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs386833896	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs386833898	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs386833899	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs386833900	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833901	A>G	Likely-pathogenic	Splice donor variant
rs386833902	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833903	AGTGCAGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833904	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833905	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833906	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833907	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833908	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833909	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833910	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833911	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs386833912	G>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs386833913	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs386833915	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833916	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833917	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833918	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs386833919	GCTGCAGCCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833920	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs386833921	->GG	Pathogenic	Coding sequence variant, frameshift variant
rs386833922	TGA>GG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833923	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs386833924	CGTGTACCTAG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs386833925	GCGTTGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833926	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs386833927	C>T	Likely-pathogenic	Intron variant
rs386833928	CGGCCTATGGG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs386833930	C>T	Likely-pathogenic	Splice donor variant
rs386833931	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833935	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs386833937	->CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833938	T>C	Likely-pathogenic	Splice acceptor variant
rs386833939	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs386833940	T>C	Likely-pathogenic	Splice acceptor variant
rs386833941	GGGCTCTTACACCAGA>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, terminator codon variant
rs386833957	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833958	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs386833959	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs386833960	G>A,C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs386833961	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs386833962	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs387906357	T>A	Pathogenic	Coding sequence variant, missense variant
rs730880174	T>C	Pathogenic	Coding sequence variant, missense variant
rs730880176	C>T	Likely-pathogenic	Splice acceptor variant
rs748819031	TGTAGAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs749341977	G>A	Pathogenic	Stop gained, coding sequence variant
rs750714387	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs751809997	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs755763002	CG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756436580	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs758432802	T>C,G	Likely-pathogenic	Splice acceptor variant
rs762184939	G>A,C	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs762392183	A>C,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Splice donor variant
rs763972372	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs767887213	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs771953692	CTCACCTGGG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs772979927	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs781584590	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs786204729	C>G,T	Likely-pathogenic	Splice acceptor variant
rs786205518	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886042517	TCACAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1009762900	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1057516637	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516776	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516918	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517021	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517022	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517413	C>G	Likely-pathogenic	Splice acceptor variant
rs1057524695	T>A	Likely-pathogenic	Intron variant
rs1131692245	C>T	Pathogenic	Coding sequence variant, missense variant
rs1244884053	TTAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1281962144	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1315968443	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1420307327	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1430464721	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555758163	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555758856	C>T	Likely-pathogenic	Splice donor variant
rs1555761997	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555762381	C>T	Likely-pathogenic	Splice acceptor variant
rs1555762591	C>T	Likely-pathogenic	Splice donor variant
rs1555763090	T>C	Likely-pathogenic	Splice acceptor variant
rs1555763372	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555763460	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555763503	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1599835856	C>T	Likely-pathogenic	Splice donor variant
rs1599845689	C>T	Pathogenic	Coding sequence variant, stop gained
rs1599845714	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT676783	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676782	hsa-miR-764	HITS-CLIP	23824327
MIRT676781	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676780	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676779	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676778	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676777	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676776	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676775	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676774	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676773	hsa-miR-640	HITS-CLIP	23824327
MIRT678311	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT678310	hsa-miR-520h	HITS-CLIP	23824327
MIRT676783	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676782	hsa-miR-764	HITS-CLIP	23824327
MIRT676781	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676780	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676779	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676778	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676777	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676776	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676775	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676774	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676773	hsa-miR-640	HITS-CLIP	23824327
MIRT676783	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676782	hsa-miR-764	HITS-CLIP	23824327
MIRT676781	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676780	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676779	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676778	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676777	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676776	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676775	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676774	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676773	hsa-miR-640	HITS-CLIP	23824327
MIRT676783	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676782	hsa-miR-764	HITS-CLIP	23824327
MIRT676781	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676780	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676779	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676778	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676777	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676776	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676775	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676774	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676773	hsa-miR-640	HITS-CLIP	23824327
MIRT678311	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT678310	hsa-miR-520h	HITS-CLIP	23824327
MIRT676783	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676782	hsa-miR-764	HITS-CLIP	23824327
MIRT676781	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676780	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676779	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676778	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676777	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676776	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676775	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676774	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676773	hsa-miR-640	HITS-CLIP	23824327
MIRT676783	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT676782	hsa-miR-764	HITS-CLIP	23824327
MIRT676781	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT676780	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT676779	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT676778	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676777	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT676776	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT676775	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT676774	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT676773	hsa-miR-640	HITS-CLIP	23824327
MIRT1190827	hsa-miR-101	CLIP-seq
MIRT1190828	hsa-miR-106a	CLIP-seq
MIRT1190829	hsa-miR-106b	CLIP-seq
MIRT1190830	hsa-miR-122	CLIP-seq
MIRT1190831	hsa-miR-1238	CLIP-seq
MIRT1190832	hsa-miR-1246	CLIP-seq
MIRT1190833	hsa-miR-1251	CLIP-seq
MIRT1190834	hsa-miR-1265	CLIP-seq
MIRT1190835	hsa-miR-146b-3p	CLIP-seq
MIRT1190836	hsa-miR-150	CLIP-seq
MIRT1190837	hsa-miR-17	CLIP-seq
MIRT1190838	hsa-miR-1913	CLIP-seq
MIRT1190839	hsa-miR-196a	CLIP-seq
MIRT1190840	hsa-miR-196b	CLIP-seq
MIRT1190841	hsa-miR-204	CLIP-seq
MIRT1190842	hsa-miR-20a	CLIP-seq
MIRT1190843	hsa-miR-20b	CLIP-seq
MIRT1190844	hsa-miR-211	CLIP-seq
MIRT1190845	hsa-miR-2114	CLIP-seq
MIRT1190846	hsa-miR-2392	CLIP-seq
MIRT1190847	hsa-miR-302a	CLIP-seq
MIRT1190848	hsa-miR-302b	CLIP-seq
MIRT1190849	hsa-miR-302c	CLIP-seq
MIRT1190850	hsa-miR-302d	CLIP-seq
MIRT1190851	hsa-miR-302e	CLIP-seq
MIRT1190852	hsa-miR-3135b	CLIP-seq
MIRT1190853	hsa-miR-3173-5p	CLIP-seq
MIRT1190854	hsa-miR-3187-3p	CLIP-seq
MIRT1190855	hsa-miR-324-3p	CLIP-seq
MIRT1190856	hsa-miR-339-5p	CLIP-seq
MIRT1190857	hsa-miR-34b	CLIP-seq
MIRT1190858	hsa-miR-3652	CLIP-seq
MIRT1190859	hsa-miR-3663-5p	CLIP-seq
MIRT1190860	hsa-miR-3691-3p	CLIP-seq
MIRT1190861	hsa-miR-372	CLIP-seq
MIRT1190862	hsa-miR-373	CLIP-seq
MIRT1190863	hsa-miR-3927	CLIP-seq
MIRT1190864	hsa-miR-3934	CLIP-seq
MIRT1190865	hsa-miR-3940-5p	CLIP-seq
MIRT1190866	hsa-miR-3943	CLIP-seq
MIRT1190867	hsa-miR-4313	CLIP-seq
MIRT1190868	hsa-miR-4320	CLIP-seq
MIRT1190869	hsa-miR-4430	CLIP-seq
MIRT1190870	hsa-miR-4435	CLIP-seq
MIRT1190871	hsa-miR-4461	CLIP-seq
MIRT1190872	hsa-miR-4507	CLIP-seq
MIRT1190873	hsa-miR-4653-3p	CLIP-seq
MIRT1190874	hsa-miR-4668-3p	CLIP-seq
MIRT1190875	hsa-miR-4690-3p	CLIP-seq
MIRT1190876	hsa-miR-4695-3p	CLIP-seq
MIRT1190877	hsa-miR-4701-5p	CLIP-seq
MIRT1190878	hsa-miR-4716-5p	CLIP-seq
MIRT1190879	hsa-miR-4729	CLIP-seq
MIRT1190880	hsa-miR-4731-5p	CLIP-seq
MIRT1190881	hsa-miR-4755-3p	CLIP-seq
MIRT1190882	hsa-miR-4781-3p	CLIP-seq
MIRT1190883	hsa-miR-4802-3p	CLIP-seq
MIRT1190884	hsa-miR-490-5p	CLIP-seq
MIRT1190885	hsa-miR-512-3p	CLIP-seq
MIRT1190886	hsa-miR-512-5p	CLIP-seq
MIRT1190887	hsa-miR-519d	CLIP-seq
MIRT1190888	hsa-miR-520a-3p	CLIP-seq
MIRT1190889	hsa-miR-520b	CLIP-seq
MIRT1190890	hsa-miR-520c-3p	CLIP-seq
MIRT1190891	hsa-miR-520d-3p	CLIP-seq
MIRT1190892	hsa-miR-520e	CLIP-seq
MIRT1190893	hsa-miR-520g	CLIP-seq
MIRT1190894	hsa-miR-548s	CLIP-seq
MIRT1190895	hsa-miR-588	CLIP-seq
MIRT1190896	hsa-miR-629	CLIP-seq
MIRT1190897	hsa-miR-668	CLIP-seq
MIRT1190898	hsa-miR-720	CLIP-seq
MIRT1190899	hsa-miR-874	CLIP-seq
MIRT1190900	hsa-miR-93	CLIP-seq
MIRT1190830	hsa-miR-122	CLIP-seq
MIRT1190852	hsa-miR-3135b	CLIP-seq
MIRT1190858	hsa-miR-3652	CLIP-seq
MIRT1190869	hsa-miR-4430	CLIP-seq
MIRT1190876	hsa-miR-4695-3p	CLIP-seq
MIRT1190828	hsa-miR-106a	CLIP-seq
MIRT1190829	hsa-miR-106b	CLIP-seq
MIRT1190830	hsa-miR-122	CLIP-seq
MIRT2055236	hsa-miR-1281	CLIP-seq
MIRT2055237	hsa-miR-1343	CLIP-seq
MIRT1190836	hsa-miR-150	CLIP-seq
MIRT1190837	hsa-miR-17	CLIP-seq
MIRT1190842	hsa-miR-20a	CLIP-seq
MIRT1190843	hsa-miR-20b	CLIP-seq
MIRT1190847	hsa-miR-302a	CLIP-seq
MIRT1190848	hsa-miR-302b	CLIP-seq
MIRT1190849	hsa-miR-302c	CLIP-seq
MIRT1190850	hsa-miR-302d	CLIP-seq
MIRT1190851	hsa-miR-302e	CLIP-seq
MIRT1190852	hsa-miR-3135b	CLIP-seq
MIRT2055238	hsa-miR-3183	CLIP-seq
MIRT1190858	hsa-miR-3652	CLIP-seq
MIRT1190861	hsa-miR-372	CLIP-seq
MIRT1190862	hsa-miR-373	CLIP-seq
MIRT1190864	hsa-miR-3934	CLIP-seq
MIRT1190869	hsa-miR-4430	CLIP-seq
MIRT1190875	hsa-miR-4690-3p	CLIP-seq
MIRT1190876	hsa-miR-4695-3p	CLIP-seq
MIRT1190878	hsa-miR-4716-5p	CLIP-seq
MIRT2055239	hsa-miR-4723-3p	CLIP-seq
MIRT2055240	hsa-miR-4772-3p	CLIP-seq
MIRT2055241	hsa-miR-498	CLIP-seq
MIRT1190885	hsa-miR-512-3p	CLIP-seq
MIRT1190887	hsa-miR-519d	CLIP-seq
MIRT1190888	hsa-miR-520a-3p	CLIP-seq
MIRT1190889	hsa-miR-520b	CLIP-seq
MIRT1190890	hsa-miR-520c-3p	CLIP-seq
MIRT1190891	hsa-miR-520d-3p	CLIP-seq
MIRT1190892	hsa-miR-520e	CLIP-seq
MIRT1190893	hsa-miR-520g	CLIP-seq
MIRT1190898	hsa-miR-720	CLIP-seq
MIRT1190900	hsa-miR-93	CLIP-seq
MIRT1190828	hsa-miR-106a	CLIP-seq
MIRT1190829	hsa-miR-106b	CLIP-seq
MIRT1190830	hsa-miR-122	CLIP-seq
MIRT2055236	hsa-miR-1281	CLIP-seq
MIRT2284185	hsa-miR-129-5p	CLIP-seq
MIRT2055237	hsa-miR-1343	CLIP-seq
MIRT1190836	hsa-miR-150	CLIP-seq
MIRT1190837	hsa-miR-17	CLIP-seq
MIRT1190842	hsa-miR-20a	CLIP-seq
MIRT1190843	hsa-miR-20b	CLIP-seq
MIRT1190847	hsa-miR-302a	CLIP-seq
MIRT1190848	hsa-miR-302b	CLIP-seq
MIRT1190849	hsa-miR-302c	CLIP-seq
MIRT1190850	hsa-miR-302d	CLIP-seq
MIRT1190851	hsa-miR-302e	CLIP-seq
MIRT1190852	hsa-miR-3135b	CLIP-seq
MIRT1190854	hsa-miR-3187-3p	CLIP-seq
MIRT1190858	hsa-miR-3652	CLIP-seq
MIRT1190859	hsa-miR-3663-5p	CLIP-seq
MIRT2284186	hsa-miR-3672	CLIP-seq
MIRT1190861	hsa-miR-372	CLIP-seq
MIRT1190862	hsa-miR-373	CLIP-seq
MIRT1190864	hsa-miR-3934	CLIP-seq
MIRT1190869	hsa-miR-4430	CLIP-seq
MIRT1190870	hsa-miR-4435	CLIP-seq
MIRT1190876	hsa-miR-4695-3p	CLIP-seq
MIRT1190877	hsa-miR-4701-5p	CLIP-seq
MIRT1190878	hsa-miR-4716-5p	CLIP-seq
MIRT1190881	hsa-miR-4755-3p	CLIP-seq
MIRT2055240	hsa-miR-4772-3p	CLIP-seq
MIRT1190882	hsa-miR-4781-3p	CLIP-seq
MIRT2055241	hsa-miR-498	CLIP-seq
MIRT1190887	hsa-miR-519d	CLIP-seq
MIRT1190888	hsa-miR-520a-3p	CLIP-seq
MIRT1190889	hsa-miR-520b	CLIP-seq
MIRT1190890	hsa-miR-520c-3p	CLIP-seq
MIRT1190891	hsa-miR-520d-3p	CLIP-seq
MIRT1190892	hsa-miR-520e	CLIP-seq
MIRT1190893	hsa-miR-520g	CLIP-seq
MIRT1190894	hsa-miR-548s	CLIP-seq
MIRT1190895	hsa-miR-588	CLIP-seq
MIRT1190898	hsa-miR-720	CLIP-seq
MIRT1190900	hsa-miR-93	CLIP-seq
MIRT1190830	hsa-miR-122	CLIP-seq
MIRT1190852	hsa-miR-3135b	CLIP-seq
MIRT1190858	hsa-miR-3652	CLIP-seq
MIRT1190869	hsa-miR-4430	CLIP-seq
MIRT1190898	hsa-miR-720	CLIP-seq
MIRT1190830	hsa-miR-122	CLIP-seq
MIRT2055236	hsa-miR-1281	CLIP-seq
MIRT2055237	hsa-miR-1343	CLIP-seq
MIRT1190836	hsa-miR-150	CLIP-seq
MIRT1190852	hsa-miR-3135b	CLIP-seq
MIRT1190858	hsa-miR-3652	CLIP-seq
MIRT1190864	hsa-miR-3934	CLIP-seq
MIRT1190869	hsa-miR-4430	CLIP-seq
MIRT1190876	hsa-miR-4695-3p	CLIP-seq
MIRT2582251	hsa-miR-4711-5p	CLIP-seq
MIRT2055240	hsa-miR-4772-3p	CLIP-seq
MIRT2055241	hsa-miR-498	CLIP-seq
MIRT1190898	hsa-miR-720	CLIP-seq
MIRT1190830	hsa-miR-122	CLIP-seq
MIRT2055236	hsa-miR-1281	CLIP-seq
MIRT2055237	hsa-miR-1343	CLIP-seq
MIRT1190836	hsa-miR-150	CLIP-seq
MIRT1190852	hsa-miR-3135b	CLIP-seq
MIRT1190858	hsa-miR-3652	CLIP-seq
MIRT1190864	hsa-miR-3934	CLIP-seq
MIRT1190869	hsa-miR-4430	CLIP-seq
MIRT1190876	hsa-miR-4695-3p	CLIP-seq
MIRT2582251	hsa-miR-4711-5p	CLIP-seq
MIRT2055240	hsa-miR-4772-3p	CLIP-seq
MIRT2055241	hsa-miR-498	CLIP-seq
MIRT2686464	hsa-miR-562	CLIP-seq
MIRT1190898	hsa-miR-720	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
WT1	Unknown	15504938;23768159

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16525419, 21858180, 22662192
GO:0005886	Component	Plasma membrane	IDA	17464107
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005911	Component	Cell-cell junction	IBA	21873635
GO:0005925	Component	Focal adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9660941
GO:0007254	Process	JNK cascade	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007520	Process	Myoblast fusion	IEA
GO:0007588	Process	Excretion	TAS	9660941
GO:0017022	Function	Myosin binding	IPI	21402783
GO:0030838	Process	Positive regulation of actin filament polymerization	IEA
GO:0032836	Process	Glomerular basement membrane development	IEP	17464107
GO:0035418	Process	Protein localization to synapse	IGI	21858180
GO:0036057	Component	Slit diaphragm	ISS
GO:0042995	Component	Cell projection	IEA
GO:0044062	Process	Regulation of excretion	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072015	Process	Glomerular visceral epithelial cell development	IEP	17464107
GO:0098609	Process	Cell-cell adhesion	IBA	21873635

Other IDs

• MIM: 602716
• HGNC: 7908
• e!Ensembl: ENSG00000161270

Protein

• UniProt ID: O60500
• Protein name: Nephrin (Renal glomerulus-specific cell adhesion receptor)
• Protein function: Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle format
• PDB: 4ZRT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	33 → 124	Immunoglobulin I-set domain	Domain
  PF08205	C2-set_2	138 → 228	CD80-like C2-set immunoglobulin domain	Domain
  PF08205	C2-set_2	242 → 328	CD80-like C2-set immunoglobulin domain	Domain
  PF08205	C2-set_2	344 → 428	CD80-like C2-set immunoglobulin domain	Domain
  PF08205	C2-set_2	444 → 538	CD80-like C2-set immunoglobulin domain	Domain
  PF08205	C2-set_2	548 → 634	CD80-like C2-set immunoglobulin domain	Domain
  PF13927	Ig_3	739 → 820		Domain
  PF13927	Ig_3	838 → 924		Domain
  PF00041	fn3	942 → 1025	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in podocytes of kidney glomeruli.
• Sequence:

  MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGS
  AVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGP
  ELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTI
  SDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPIKASFTVNVLFPP
  GPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLKNGQPVSTAWGTEHTQAVARS
  VLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITLQVTFPPSAIIILGSASQTENKNVTLS
  CVSKSSRPRVLLRWWLGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAF
  SEAFTKETFKKSLILNVKYPAQKLWIEGPPEGQKLRAGTRVRLVCLAIGGNPEPSLMWYK
  DSRTVTESRLPQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAKFTCKAGQLSASTQLA
  VQFPPTNVTILANASALRPGDALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFK
  GSAAARSVLLQVSSRDHGQRVTCRAHSAELRETVSSFYRLNVLYRPEFLGEQVLVVTAVE
  QGEALLPVSVSANPAPEAFNWTFRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLH
  CQNSEGTAEARLRLDVHYAPTIRALQDPTEVNVGGSVDIVCTVDANPILPGMFNWERLGE
  DEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDNGVAPPARRLLRLVVRFAPQV
  EHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVH
  SSLLTIANVSAAQDYALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLE
  WKPGFDGGLPQRFCIRYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALG
  DSGLADKGTQLPITTPGLHQPSGEPEDQLPTEPPSGPSGLPLLPVLFALGGLLLLSNASC
  VGGVLWQRRLRRLAEGISEKTEAGSEEDRVRNEYEESQWTGERDTQSSTVSTTEAEPYYR
  SLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGP
  WDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV

• Sequence length: 1241

Pathways

Reactome:

Nephrin family interactions

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Congenital nephrotic syndrome	Congenital nephrotic syndrome, Finnish type	rs386833898, rs762392183
Finnish congenital nephrotic syndrome	Finnish congenital nephrotic syndrome	rs28939378, rs137853042, rs267606919, rs267606917, rs140511594, rs386833863, rs386833864, rs386833865, rs386833866, rs386833867, rs386833869, rs386833871, rs386833870, rs386833872, rs386833874, rs386833873, rs386833875, rs386833876, rs386833877, rs386833878, rs386833880, rs386833881, rs386833882, rs386833883, rs386833884, rs386833885, rs386833886, rs386833887, rs386833888, rs386833889, rs386833890, rs386833891, rs386833892, rs386833893, rs386833894, rs386833895, rs386833897, rs386833898, rs386833899, rs191807913, rs386833900, rs386833901, rs386833902, rs386833903, rs386833904, rs386833905, rs386833906, rs386833907, rs386833908, rs386833909, rs386833910, rs386833911, rs114203578, rs386833912, rs386833913, rs386833914, rs386833915, rs386833916, rs386833917, rs386833918, rs386833919, rs386833920, rs386833921, rs386833922, rs386833923, rs386833924, rs386833925, rs386833926, rs386833927, rs386833928, rs386833929, rs386833930, rs386833931, rs386833932, rs386833935, rs386833937, rs386833938, rs386833939, rs386833940, rs386833941, rs386833942, rs386833943, rs386833944, rs386833945, rs386833946, rs386833947, rs386833948, rs386833949, rs386833950, rs386833951, rs386833952, rs386833953, rs386833954, rs386833955, rs1555763603, rs386833957, rs386833958, rs386833959, rs386833961, rs386833962, rs730880176, rs730880174, rs530318579, rs150855173, rs786204729, rs138656762, rs150038620, rs139598219, rs1057516637, rs748819031, rs369410355, rs751809997, rs755763002, rs1057517022, rs1057517021, rs1057516918, rs1057516776, rs1057517413, rs781584590, rs778217926, rs1057517275, rs1054950770, rs1057516942, rs1057524695, rs1131692245, rs1555761997, rs1555763372, rs749341977, rs762392183, rs1555758163, rs767887213, rs756436580, rs758432802, rs34124941, rs1555762381, rs1244884053, rs763972372, rs1555763503, rs1555764281, rs750714387, rs771953692, rs1555763974, rs1430464721, rs1555758856, rs1009762900, rs762184939, rs778951863, rs1555762591, rs1555763090, rs1555763460, rs772979927, rs767832658, rs140018064, rs1315968443, rs1579327590, rs1599835856, rs1599845714, rs1420307327, rs1599845689, rs1972879328, rs1161720919, rs1973176439	23595123, 28780565, 19812541, 22009864, 19423745, 10652016, 23949594, 25501161, 25407002, 9660941, 16518627, 24742477, 25804400, 9915943, 24902943, 25349199, 11726550, 10577936, 22732337, 18503012, 20172850, 28392951, 16316524, 22099579, 11317351, 15338398, 26560236, 19194555, 21672106, 10972661, 25720465, 19321760, 19406966, 15086927, 22584503, 29474669, 15780077, 24142548, 18614772, 25729976, 28117080, 17290294, 10792613, 26668027, 22565185, 28204945, 20507940, 15213260, 14570703, 24498843, 15906409, 20798252, 21415313, 11854170, 11562357, 17371932, 24303155, 27019444, 25525159, 18709391, 11012881
Glomerulonephritis	Glomerulonephritis, Glomerulonephritis, Minimal Change	rs778043831	20962747, 11337370, 18256598
Hyperhomocysteinemia	Hyperhomocysteinemia	rs121964962, rs121964963, rs121964964, rs5742905, rs121964966, rs121964967, rs121964968, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs398123151, rs786204466, rs786204679, rs763036586, rs771298943, rs758236584, rs775351239, rs764160782, rs770095972, rs760214620, rs786204757, rs794727083, rs781444670, rs149119723, rs769080151, rs372010465, rs777919630, rs863223432, rs863223430, rs773734233, rs762065361, rs775992753, rs778220779, rs863223435, rs199948079, rs148865119, rs779250698, rs886057100, rs1057516895, rs760417941, rs781567152, rs1057517373, rs766453711, rs763835246, rs755952006, rs1057517083, rs1057516256, rs751464024, rs748695461, rs757920190, rs1064794540, rs1064793703, rs377708532, rs528689432, rs757428597, rs1361324844, rs1347651454, rs1555871188, rs143124288, rs760609383, rs755625628, rs1555876784, rs1555869958, rs1555869979, rs1434118781, rs1555874121, rs763290176, rs1555874803, rs1555875292, rs865990681, rs1000697114, rs1568932835, rs1234354755, rs1170128038, rs1601339216, rs1981524462, rs376916741, rs373782713, rs1983442077	20116427
Hyperlipidemia	Hyperlipidemia	rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Kidney disease	Kidney Diseases, Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	12012391, 16382022, 29545352
Nephrotic syndrome	Nephrotic Syndrome, Nephrotic Syndrome, Minimal Change, Idiopathic Nephrotic Syndrome, NEPHROTIC SYNDROME, TYPE 3	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391	11854170, 18503012, 16518627, 18256598, 11012881, 10792613
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
Nephrotic Syndrome	familial idiopathic steroid-resistant nephrotic syndrome			GenCC
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	33597637
Acute Kidney Injury	Associate	12920248, 35891358
Albuminuria	Associate	24103534, 28334007, 35451598
Arthritis Infectious	Inhibit	18364044
Chromosome 22q11.2 Microduplication Syndrome	Associate	31443662
Cicatrix	Associate	20370455
Diabetes Mellitus	Inhibit	15149332, 32099032
Diabetes Mellitus Type 2	Associate	22615747
Diabetic Nephropathies	Associate	15149332, 18449463
Diabetic Nephropathies	Inhibit	17264876, 19906946, 22615747, 35637650
Diarrhea	Associate	36800604
Disease	Associate	12368218, 29637272, 32554042
Epilepsy Absence	Associate	33938658
Fibrosis	Associate	15954901, 16941028
Genetic Diseases Inborn	Associate	28780565
Glomerulonephritis IGA	Stimulate	39516745
Glomerulonephritis Membranoproliferative	Inhibit	11786094
Glomerulonephritis Membranous	Associate	11786094
Glomerulosclerosis Focal Segmental	Associate	19812541, 29138824, 30691124, 31188898, 31216994, 39914654
Glomerulosclerosis Focal Segmental	Stimulate	25245074
Hyperglycemia	Associate	35451598
Hypertension	Associate	12920248, 32099032
Hypertension	Inhibit	40262004
Inflammation	Associate	15954901
Kidney Diseases	Associate	12631336, 15149332, 16941028, 18449463, 18614772, 24196483, 24948143, 25245074, 30691124, 8178817
Kidney Failure Chronic	Associate	21415313, 24948143
Lupus Erythematosus Systemic	Inhibit	11786094
Lupus Nephritis	Associate	25245074
Meretoja syndrome	Associate	18503012
Nephritis	Associate	11786094
Nephrosis	Associate	25557780, 9660941
Nephrosis congenital	Associate	10393930, 10550324, 10652016, 10972661, 11097620, 11106563, 12368218, 12920248, 15338398, 15780077, 15954901, 16050398, 16941028, 17413422, 18503012, 18614772, 19194555, 19406966, 19812541, 20172850, 20507940, 22584503, 22653594, 24142548, 25557780, 25635037, 25729976, 26668027, 27594755, 30514835, 30594156, 31013750, 31443662, 32554042, 33597637, 33938658, 33980730, 34396835, 36800604, 37204080, 38146730, 8533767, 9660941, 9915943
Nephrosis congenital	Stimulate	8178817, 9067923
Nephrosis Lipoid	Associate	15086927, 31188898
Nephrotic Syndrome	Associate	10972661, 11337370, 16050398, 16531978, 16941028, 18614772, 19406966, 19812541, 20172850, 20798252, 21415313, 23349334, 24196483, 24413855, 24742477, 24856380, 25501161, 25635037, 26668027, 28117080, 28204945, 28921387, 29127259, 32554042, 33597637, 34031708, 35920919, 37204080, 39922375, 40543848
Nephrotic syndrome idiopathic steroid resistant	Associate	15780077
Obesity	Associate	26147062
Overweight	Associate	26147062
Pre Eclampsia	Associate	27052160, 27862669, 28621045
Proteinuria	Associate	10550324, 11337370, 11562357, 11786094, 12631336, 12920248, 15149332, 15954901, 16531978, 20840477, 25245074, 26274923, 28621045, 31937884
Pyruvate Carboxylase Deficiency Disease	Associate	23768159
Rare Diseases	Associate	32554042
Renal Insufficiency	Associate	30691124
Slit Ventricle Syndrome	Associate	33597637
Wounds and Injuries	Associate	26274923