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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:proteinuria
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Accession:DOID:576 term browser browse the term
Definition:A kidney disease that is characterized by the presence of excess proteins in the urine. (DO)
Synonyms:exact_synonym: Proteinurias
 primary_id: MESH:D011507;   RDO:0001959
 xref: ICD10CM:R80;   ICD10CM:R80.9;   ICD9CM:791.0;   NCI:C38012
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity
treatment		 ISO
IMP		 associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human)
associated with Acute Kidney Injury		 RGD PMID:10193250 PMID:10844603 RGD:11038828, RGD:12879396 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Add2 adducin 2 ISO RGD PMID:19838659 RGD:7174725 NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505 		JBrowse link
G Add3 adducin 3 IMP RGD PMID:32029431 RGD:150340736 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124 		JBrowse link
G Ager advanced glycosylation end product-specific receptor susceptibility ISO associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human) RGD PMID:12606536 RGD:1566451 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:464098 PMID:2046802 PMID:9259580 PMID:12937228 PMID:17890855 More... NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a IMP
ISO		 associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17021606 PMID:20042458 RGD:6903284 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Alb albumin ISO associated with hypertension
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:839733 PMID:1011057 PMID:7288527 PMID:7297036 PMID:10916085 More... RGD:1601158 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12649539 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP RGD PMID:7933831 RGD:1300446 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease IAGP RGD PMID:7933831 RGD:1300446
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842518 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Proteinuria ClinVar NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:urine
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:33857584 PMID:17634209 RGD:2311211 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G C6 complement C6 IDA associated with Glomerulonephritis RGD PMID:2672823 RGD:1600682 NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) IMP RGD PMID:12427125 RGD:2326179 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831 		JBrowse link
G Cd8a CD8a molecule ISO associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse) RGD PMID:9713350 RGD:124715441 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040 		JBrowse link
G Cfh complement factor H IEP protein:altered expression:kidney: RGD PMID:22815489 RGD:7364901 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15719255 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Clu clusterin treatment IEP RGD PMID:18274700 RGD:9068435 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Ctsb cathepsin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:3669494 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:3669494 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP RGD PMID:16382022 RGD:2311386 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr  X:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Dpp4 dipeptidylpeptidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2880436 NCBI chr 3:46,962,243...47,043,870
Ensembl chr 3:46,962,243...47,043,901 		JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus; protein:increased activity:plasma (human) RGD PMID:509177 RGD:2312414 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26590112 PMID:33632240 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Gusb glucuronidase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:2880436 NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP
ISO		 mRNA,protein:increased expression:kidney,urine
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19225054 PMID:16467126 RGD:7245980 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP associated with Hypertension;mRNA, protein:increased expression:kidney RGD PMID:22681549 RGD:8547734 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:3091246 PMID:8289579 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:9370186 PMID:12138282 RGD:6909118 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human) RGD PMID:19377212 RGD:2307194 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:23515051 PMID:25165188 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Lamb2 laminin subunit beta 2 IMP RGD PMID:21511833 RGD:7207433 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205467 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor sexual_dimorphism IAGP
IMP		 compared to BN
compared to SS/JrHsdMcwi		 RGD PMID:20159938 PMID:27465994 RGD:7365117, RGD:12911217 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP compared to SS/JrHsdMcwi RGD PMID:27465994 RGD:12911217
G Leprfa leptin receptor; fa mutant sexual_dimorphism IAGP compared to BN RGD PMID:20159938 RGD:7365117
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 PMID:20199424 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:38,675,776...38,959,697
Ensembl chr13:38,676,119...38,959,513 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:12169874 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Myh9 myosin, heavy chain 9 disease_progression ISO associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human)
associated with anemia, sickle cell:DNA:SNPs: :		 RGD PMID:20200500 PMID:21910715 RGD:6903242, RGD:6903258 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 IMP RGD PMID:22326221 RGD:9587793 NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277 		JBrowse link
G Ncf2em1Mcwi neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP RGD PMID:22326221 RGD:9587793
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300 		JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307 		JBrowse link
G Nckap5 NCK-associated protein 5 IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:37,369,948...38,283,257
Ensembl chr13:37,370,792...38,283,268 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO RGD PMID:12039968 RGD:737765 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin IDA
ISO		 ClinVar Annotator: match by term: Proteinuria ClinVar
RGD		 PMID:11805166 PMID:11854170 PMID:12464671 PMID:14675423 PMID:14871423 More... RGD:1598706 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Nppb natriuretic peptide B IMP RGD PMID:26063669 RGD:12910116 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722447 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Optn optineurin IEP associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat) RGD PMID:25096716 RGD:13434904 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071462 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071462 NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO DNA:mutation: :994G>T(human) RGD PMID:10430976 RGD:7248792 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4368615 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pon1 paraoxonase 1 ISO associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human) RGD PMID:9591753 RGD:8547663 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16054168 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Psme2-ps1 proteasome activator subunit 2, pseudogene 1 IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:38,189,375...38,190,347 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19643929 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:15758045 RGD:1357409 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:464098 PMID:2046802 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G RGD1560333 similar to Ferritin light chain (Ferritin L subunit) IAGP RGD PMID:21257920 RGD:12798539
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19955829 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:11436868 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11436868 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11752024 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Sdc1 syndecan 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:16622173 RGD:1643128 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264 		JBrowse link
G Serpina1 serpin family A member 1 IEP protein:increased expression:urine RGD PMID:11239198 RGD:1625796 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP RGD PMID:31250553 RGD:14985213 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide IDA associated with Lupus Erythematosus, Systemic in a mouse model RGD PMID:16418806 RGD:10755721 NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sorcs1 sortilin-related VPS10 domain containing receptor 1 IMP associated with hypertension RGD PMID:23780848 RGD:12910977 NCBI chr 1:249,080,662...249,594,520
Ensembl chr 1:249,081,355...249,594,507 		JBrowse link
G Sorcs1em1Mcwi sortilin-related VPS10 domain containing receptor 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP associated with hypertension RGD PMID:23780848 RGD:12910977
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11972865 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ameliorates ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12937228 PMID:23249995 RGD:13446413 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tlr9 toll-like receptor 9 ISO associated with Lupus Erythematosus, Systemic
associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human)		 RGD PMID:23467932 PMID:22787315 RGD:7245987, RGD:7245989 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tmem163 transmembrane protein 163 IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:38,967,913...39,141,664
Ensembl chr13:38,968,101...39,141,452 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP compared to RGD:14995941 RGD PMID:11095650 RGD:1300514 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP compared to RGD:14995941 RGD PMID:11095650 RGD:1300514
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO RGD PMID:23385000 RGD:7247440 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G tuba1c-ps1 tubulin, alpha 1C, pseudogene 1 IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:38,507,481...38,508,832
Ensembl chr13:38,507,401...38,508,943 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vtn vitronectin IMP associated with Mesangial Proliferative Glomerulonephritis RGD PMID:9621282 RGD:10003089 NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:28492532 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO
IMP		 associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
associated with Diabetic Nephropathies
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23733546 PMID:1336356 PMID:16902320 RGD:7829770, RGD:12879427 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adm adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654 		JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO
IDA		 associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetic Nephropathies		 RGD PMID:21607631 PMID:21796806 PMID:20627935 RGD:7243944, RGD:7244184, RGD:7244135 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515 PMID:18679781 PMID:21896938 PMID:15118671 RGD:1331525 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B1 ISO associated with Diabetes Mellitus, Experimental;human gene in a rat model RGD PMID:12166624 RGD:8548813 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157 		JBrowse link
G Alb albumin ISO
IEP		 associated with Diabetes Mellitus, Insulin-Dependent
associated with hypertension		 RGD PMID:19414946 PMID:15102963 RGD:2306884, RGD:1601157 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) RGD PMID:18640486 RGD:2313875 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542 		JBrowse link
G B2m beta-2 microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383 		JBrowse link
G Casr calcium-sensing receptor IDA associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:urine RGD PMID:21113841 RGD:5683918 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231 		JBrowse link
G Cd38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human) RGD PMID:17183695 RGD:5491201 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Crp C-reactive protein severity ISO associated with Anemia, Sickle Cell; protein:increased expression:serum
associated with hypertension		 RGD PMID:20710104 PMID:20016210 RGD:6907441, RGD:6909147 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Csf1 colony stimulating factor 1 treatment IDA associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Cst3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19596469 RGD:2314309 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Ctsb cathepsin B IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsl cathepsin L IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IMP RGD PMID:15939810 RGD:2307307 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G F7 coagulation factor VII no_association
severity		 ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)		 RGD PMID:8458188 PMID:8250495 PMID:9187410 RGD:2312410, RGD:2312407, RGD:2312406 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610 		JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO associated with Anemia, Sickle Cell;protein:increased expression:urine: RGD PMID:21630304 RGD:7245982 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226 PMID:29420703 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336 PMID:20175764 PMID:23159718 PMID:28130181 PMID:29988851 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:8666151 RGD:2308836 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lrp2 LDL receptor related protein 2 IDA RGD PMID:12121845 RGD:1641839 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Mir130a microRNA 130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629 		JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727 		JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr  X:132,806,594...132,806,688
Ensembl chr  X:132,806,594...132,806,688 		JBrowse link
G Mmp9 matrix metallopeptidase 9 onset ISO associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) RGD PMID:9774113 RGD:7207214 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:22554825 RGD:6893631 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300 		JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297 		JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103
G Pdpn podoplanin IEP RGD PMID:18199599 RGD:2292240 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656 		JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) RGD PMID:22684233 RGD:7242025 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi RGD PMID:15758045 PMID:23291471 RGD:1357409, RGD:13782139 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924 		JBrowse link
G Rab38em1Mcwi RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IAGP compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi RGD PMID:23291471 RGD:13782139
G Rag1 recombination activating 1 IMP RGD PMID:23364523 RGD:7207429 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291 		JBrowse link
G Rag1em1Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP as compare to o.4% NaCl diet RGD PMID:23364523 RGD:7207429
G Rag1em2Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:23364523 RGD:7207429
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515 PMID:18679781 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620 		JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) RGD PMID:9201602 RGD:8547710 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Diabetes Mellitus, Experimental; human gene in a rat model RGD PMID:16731830 RGD:8554875 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 IMP RGD PMID:25776069 RGD:13442483 NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616 		JBrowse link
G Sh2b3em1Mcwi SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP RGD PMID:25776069 RGD:13442483
G Shc1 SHC adaptor protein 1 ameliorates IMP RGD PMID:27270176 RGD:12792230 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536 		JBrowse link
G Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin ameliorates IMP RGD PMID:27270176 RGD:12792230
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spp1 secreted phosphoprotein 1 IEP RGD PMID:18443355 RGD:6903862 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Tmem63c transmembrane protein 63c IEP mRNA:increased expression:kidney,renal glomerulus (rat) RGD PMID:30900988 RGD:15023481 NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 IEP associated with Hypertension;mRNA, protein:increased expression:kidney cortex RGD PMID:19887786 RGD:7247603 NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855 		JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:107,946,163...108,230,978
Ensembl chr  X:107,939,131...108,230,991 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO
IEP		 associated with Hypertension;mRNA:decreased expression:kidney cortex RGD PMID:21839714 PMID:19887786 RGD:7247445, RGD:7247603 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18299691 RGD:2312766 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule ISO ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy OMIM
ClinVar		 PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
Chronic Benign Proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cubn cubilin ISO ClinVar Annotator: match by term: Proteinuria, chronic benign OMIM
ClinVar		 PMID:15024727 PMID:16199547 PMID:22929189 PMID:24033266 PMID:25741868 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE OMIM
ClinVar		 PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15367484 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis ClinVar PMID:23349334 PMID:25741868 PMID:28492532 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome OMIM
ClinVar		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
familial nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome ClinVar PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More... NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G Trp53rka transformation related protein 53 regulating kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:154,221,605...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar		 PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443 		JBrowse link
Galloway-Mowat Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1559909 RGD1559909 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 ClinVar PMID:31481669 NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929 		JBrowse link
G Yrdc yrdC N(6)-threonylcarbamoyltransferase domain containing ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 OMIM
ClinVar		 PMID:31481669 PMID:34545459 NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120 		JBrowse link
Galloway-Mowat syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked OMIM
ClinVar		 PMID:12693786 PMID:25741868 PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 OMIM
ClinVar		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53rka transformation related protein 53 regulating kinase A ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 OMIM
ClinVar		 PMID:25741868 PMID:28805828 PMID:32581362 NCBI chr 3:154,221,605...154,224,841
Ensembl chr 3:154,220,851...154,224,328 		JBrowse link
Galloway-Mowat syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More... NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More... NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 OMIM
ClinVar		 PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
Galloway-Mowat Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 OMIM
ClinVar		 PMID:31481669 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd7 acyl-CoA binding domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,903,936...74,909,977
Ensembl chr17:74,903,177...74,905,811 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Akr1e2 aldo-keto reductase family 1, member E2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,735,909...65,750,441
Ensembl chr17:65,735,943...65,750,441 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533 		JBrowse link
G Arl5b ADP-ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,955,749...77,983,745
Ensembl chr17:77,955,818...77,979,854 		JBrowse link
G Asb13 ankyrin repeat and SOCS box-containing 13 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,483,212...73,566,221
Ensembl chr17:73,485,282...73,567,559 		JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,121,832...76,128,327
Ensembl chr17:76,119,447...76,128,530 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175 		JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,394,433...66,395,390 JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,459,296...72,502,948
Ensembl chr17:72,459,282...72,503,316 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,714,564...74,728,639
Ensembl chr17:74,713,564...74,728,639 		JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Echdc3 enoyl CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,070,697...72,093,519
Ensembl chr17:72,070,668...72,093,516 		JBrowse link
G Fam107b family with sequence similarity 107, member B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,478,608...74,685,027
Ensembl chr17:74,478,608...74,684,989 		JBrowse link
G Fam171a1 family with sequence similarity 171, member A1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,024,582...75,148,348
Ensembl chr17:75,024,575...75,150,255 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687 		JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10935639 PMID:11389161 PMID:15705923 PMID:16912130 PMID:17210674 More... NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		JBrowse link
G Hspa14 heat shock protein family A (Hsp70) member 14 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,728,945...74,749,730
Ensembl chr17:74,728,899...74,749,727 		JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510 		JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,375,518...68,411,849
Ensembl chr17:68,375,567...68,411,841 		JBrowse link
G Itih5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,248,115...68,352,216
Ensembl chr17:68,252,128...68,352,207 		JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,413,483...68,431,392
Ensembl chr17:68,413,486...68,423,845 		JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080 		JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,877,651...74,902,517
Ensembl chr17:74,877,655...74,902,518 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,151,961...72,187,524
Ensembl chr17:72,151,872...72,185,825 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,354,435...73,382,803
Ensembl chr17:73,356,530...73,382,593 		JBrowse link
G Sfmbt2 Scm-like with four mbt domains 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:67,934,296...68,128,905
Ensembl chr17:67,935,904...68,128,781 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,740,755...76,883,766
Ensembl chr17:76,745,224...76,884,299 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332 		JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,455,389...68,608,367
Ensembl chr17:68,423,909...68,608,367 		JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439 		JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355 		JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,293,977...73,303,728
Ensembl chr17:73,293,978...73,303,611 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,309,952...66,315,571
Ensembl chr17:66,309,371...66,315,990 		JBrowse link
G Upf2 UPF2, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,224,575...72,335,896
Ensembl chr17:72,225,316...72,335,855 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,740,755...76,883,766
Ensembl chr17:76,745,224...76,884,299 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
Imerslund-Grasbeck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:		 RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344 		JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type		 ClinVar
OMIM
RGD		 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 More... RGD:61796 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
Imerslund-Grasbeck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO DNA:mutation:splice site:
ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type		 ClinVar
OMIM
RGD		 PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... RGD:11071839 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815 		JBrowse link
Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital OMIM
ClinVar		 PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 More... NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118 		JBrowse link
lipoid nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment IEP RGD PMID:24119646 RGD:10043363 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Il13 interleukin 13 IMP RGD PMID:17429054 RGD:2290347 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il17a interleukin 17A IEP Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Lgals1 galectin 1 IEP protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Minimal change glomerulonephritis ClinVar PMID:23687361 PMID:32581362 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 severity
no_association		 ISO DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:polymorphism:3' utr:2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)		 RGD PMID:12900808 PMID:15687724 PMID:19011907 RGD:7244138, RGD:7244146, RGD:7244144 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IEP
IMP		 protein:increased activity:multiple (rats)
Adriamycin Nephrosis		 RGD PMID:8303709 PMID:8665777 RGD:8157608, RGD:12879388 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3301049 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Angpt1 angiopoietin 1 IEP mRNA, protein:decreased expression:glomerulus RGD PMID:16626513 RGD:1626164 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067 		JBrowse link
G Angpt2 angiopoietin 2 IDA
IEP		 mRNA:increased expression:kidney (rat) RGD PMID:18929866 PMID:18929864 RGD:2314177, RGD:2314178 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Cat catalase ISO mRNA: decreased expression: glomerulus RGD PMID:20685819 RGD:7205671 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 IEP RGD PMID:10867541 RGD:4891422 NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 IEP RGD PMID:10867541 RGD:4891422 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Cd36 CD36 molecule IEP RGD PMID:19147991 RGD:2307223 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:19889873 RGD:7248422 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd59 CD59 molecule IMP RGD PMID:15843577 RGD:1600482 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847 		JBrowse link
G Cfh complement factor H IEP protein:altered expression:kidney: RGD PMID:22815489 RGD:7364901 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:19590241 RGD:4891946 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:19590241 RGD:4891946 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP mRNA:decreased expression RGD PMID:16574160 RGD:1599698 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:1328752 RGD:2307321 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr12:8,880,528...8,930,382
Ensembl chr12:8,880,528...8,930,381 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP
ISO		 Protein:increased expression:glomerulus, podocyte
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16400006 PMID:16400006 RGD:1599729 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16418842 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Edn1 endothelin 1 IEP
ISO		 mRNA:increased expression:glomerulus (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7756592 PMID:9175058 RGD:4144855 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7756592 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G F2 coagulation factor II IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18541230 PMID:18541230 RGD:6893577 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:22046528 RGD:7240570 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:17213874 RGD:7246891 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Hpse heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16899518 NCBI chr14:8,896,593...8,937,011
Ensembl chr14:8,896,593...8,937,010 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22582804 RGD:7175170 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Lamb2 laminin subunit beta 2 ISS MouseDO NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Lrp2 LDL receptor related protein 2 IEP mRNA:decreased expression:glomerulus RGD PMID:10919857 RGD:1641827 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Nes nestin IEP
ISO		 mRNA, protein:increased expression:glomerulus
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16418842 PMID:17637254 RGD:1642072 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Nppa natriuretic peptide A IEP protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nppb natriuretic peptide B IEP protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pdpn podoplanin IEP mRNA, protein:decreased expression:glomerulus RGD PMID:9327748 RGD:632934 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656 		JBrowse link
G Ptpru protein tyrosine phosphatase, receptor type, U IEP mRNA, protein:decreased expression:glomerulus RGD PMID:17457373 RGD:1642654 NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 PMID:6358456 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP protein:altered localization:nucleus RGD PMID:19147991 RGD:2307223 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848 		JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:decreased expression:ovary RGD PMID:16574160 RGD:1599698 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Vim vimentin IEP
ISO		 mRNA,protein:increased expression:podocyte
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16418842 PMID:16418842 RGD:6480447 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		JBrowse link
nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP
ISO		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11304663 PMID:9453001 RGD:10046046 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786 		JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 IEP protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855 		JBrowse link
G Ace angiotensin I converting enzyme treatment IDA
IMP		 protein:increased activity:multiple RGD PMID:2175683 PMID:15942045 RGD:11038913, RGD:1598707 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847 		JBrowse link
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10453743 PMID:15327387 PMID:15464418 PMID:17495019 PMID:19479957 More... NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:1556257 PMID:17178036 PMID:22203175 RGD:11036090 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19194550 RGD:2317535 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743 		JBrowse link
G Anln anillin, actin binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538 		JBrowse link
G Apoa1 apolipoprotein A1 IEP RGD PMID:18614621 RGD:2313652 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apob apolipoprotein B IEP protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497 		JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr14:6,800,631...7,184,001
Ensembl chr14:6,800,631...7,183,823 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023 		JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 More... NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Cd2 Cd2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026 		JBrowse link
G Cdk20 cyclin-dependent kinase 20 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826 		JBrowse link
G Cfi complement factor I disease_progression ISO RGD PMID:9745775 RGD:108019049 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Cfl1 cofilin 1 treatment IEP RGD PMID:24737737 RGD:11570418 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Cog1 component of oligomeric golgi complex 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:19008299 PMID:29127259 NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11961012 PMID:14582039 PMID:19129241 PMID:21196518 PMID:24052634 More... NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:7695699 PMID:8218237 PMID:9848783 PMID:15044104 PMID:19344236 More... NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Coq2 coenzyme Q2, polyprenyltransferase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:17855635 PMID:20689595 PMID:23349334 PMID:25741868 PMID:28492532 More... NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556 		JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10556299 PMID:19580442 PMID:24464559 PMID:29127259 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Ctsl cathepsin L IEP mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Ddc dopa decarboxylase IEP protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23274426 PMID:25349199 PMID:29127259 NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 PMID:29127259 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		JBrowse link
G Ece1 endothelin converting enzyme 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371 		JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISS
ISO		 ClinVar Annotator: match by term: Nephrotic syndrome MouseDO
ClinVar		 PMID:25741868 PMID:26905694 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial IEP RGD PMID:18614621 RGD:2313652 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282 		JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma RGD PMID:12824952 RGD:1625122 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Il1b interleukin 1 beta severity IEP
ISO		 protein:increased expression:serum (human)
associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)		 RGD PMID:21359962 PMID:21103916 PMID:14760799 RGD:7175324, RGD:7175339, RGD:7175337 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) RGD PMID:14758530 RGD:6907374 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24812565 RGD:10402803 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213 		JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 PMID:29127259 NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:22512483 PMID:29127259 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118 		JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Itsn1 intersectin 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645 		JBrowse link
G Itsn2 intersectin 2 ISS MouseDO NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kank4 KN motif and ankyrin repeat domains 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25961457 PMID:28492532 PMID:29127259 NCBI chr 5:113,401,491...113,465,526
Ensembl chr 5:113,402,468...113,465,555 		JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IEP RGD PMID:21606114 RGD:7244390 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11317351 PMID:11854170 PMID:12039988 PMID:18503012 PMID:20507940 More... NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23999528 PMID:25741868 PMID:26553438 PMID:28492532 PMID:29534211 More... NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:2206901 PMID:15367484 PMID:25741868 PMID:28492532 PMID:29127259 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Lipc lipase C, hepatic type IDA protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899 		JBrowse link
G LOC100910714 60S ribosomal protein L36a-like ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr13:4,300,010...4,300,535
Ensembl chr13:4,300,026...4,300,388 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29127259 NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169 		JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300 		JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307 		JBrowse link
G Nfkbia NFKB inhibitor alpha exacerbates ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:17441336 RGD:127285019 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment IEP
ISO
ISS		 mRNA,protein:decreased expression:podocyte (mouse)
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861		 MouseDO
RGD		 PMID:15942045 PMID:22493483 RGD:1598707, RGD:38599005 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin treatment IEP
ISO		 ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... RGD:1598707 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 More... NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 More... NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Pdss2 decaprenyl diphosphate synthase subunit 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:17186472 PMID:17374725 PMID:29127259 NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO
IEP		 protein:increased activity:plasma RGD PMID:15292677 PMID:8692015 RGD:7248795, RGD:7257517 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Plce1 phospholipase C, epsilon 1 onset ISO DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome		 ClinVar
RGD		 PMID:29127259 PMID:17086182 RGD:7257519 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:19194550 RGD:2317535 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11095018 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		JBrowse link
G Serpinc1 serpin family C member 1 disease_progression IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11304663 PMID:7532794 PMID:8979144 RGD:11035294, RGD:11038563 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293 		JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23232022 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28492532 More... NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611 		JBrowse link
G Smad1 SMAD family member 1 IEP RGD PMID:17803470 RGD:1643224 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651 		JBrowse link
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
G Soat2 sterol O-acyltransferase 2 IEP mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:9152291 PMID:9152291 RGD:11035285 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Synpo synaptopodin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:33615071 NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126 		JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:31732614 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tprkb Tp53rk binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28805828 PMID:29127259 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15924139 PMID:25741868 PMID:26467025 PMID:28204945 PMID:28492532 More... NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Vldlr very low density lipoprotein receptor IEP protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920 		JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:29127259 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
nephrotic syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:12384774 PMID:25741868 PMID:28492532 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More... NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:25741868 NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:11805166 PMID:12464671 PMID:14978175 PMID:15253708 PMID:15769810 More... NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 PMID:12039988 More... NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 PMID:12464671 More... NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:10691414 PMID:10835640 PMID:12011155 PMID:12187509 PMID:12483248 More... NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
nephrotic syndrome type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 10 OMIM
ClinVar		 PMID:24814193 PMID:25741868 PMID:28492532 NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733 		JBrowse link
nephrotic syndrome type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 11 OMIM
ClinVar		 PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222 NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
nephrotic syndrome type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 12 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
nephrotic syndrome type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 13 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844 		JBrowse link
nephrotic syndrome type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome 14 OMIM
ClinVar		 PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More... NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084 		JBrowse link
nephrotic syndrome type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome 15 OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 NCBI chr 4:14,388,322...15,870,036
Ensembl chr 4:14,386,399...15,870,240 		JBrowse link
nephrotic syndrome type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome 16 ClinVar
OMIM		 PMID:25961457 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
nephrotic syndrome type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 17 ClinVar PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr10:100,825,426...100,844,462
Ensembl chr10:100,825,426...100,844,462 		JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 17 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr10:100,806,482...100,825,029
Ensembl chr10:100,806,437...100,825,043 		JBrowse link
nephrotic syndrome type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239 		JBrowse link
nephrotic syndrome type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 19 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30179222 NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565 		JBrowse link
nephrotic syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:27004616 PMID:28492532 PMID:32581362 NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844 		JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171 		JBrowse link
nephrotic syndrome type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 20 OMIM
ClinVar		 PMID:25741868 PMID:30661770 PMID:31732614 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133 		JBrowse link
nephrotic syndrome type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 21 OMIM
ClinVar		 PMID:25741868 PMID:29058690 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 21 ClinVar PMID:29058690 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
nephrotic syndrome type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 22 OMIM
ClinVar		 PMID:25741868 PMID:33523862 NCBI chr13:82,549,786...82,820,949
Ensembl chr13:82,530,577...82,820,949 		JBrowse link
nephrotic syndrome type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel1 kirre like nephrin family adhesion molecule 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 23 OMIM
ClinVar		 PMID:31472902 NCBI chr 2:172,521,644...172,615,057
Ensembl chr 2:172,525,245...172,615,299 		JBrowse link
Nephrotic Syndrome Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 24 OMIM
ClinVar		 PMID:33232676 NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497 		JBrowse link
nephrotic syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 PMID:24247120 More... NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 OMIM
ClinVar		 PMID:17086182 PMID:18975016 PMID:20507940 PMID:20591883 PMID:22865593 More... NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
nephrotic syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4 OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities OMIM
ClinVar		 PMID:2206901 PMID:7885444 PMID:14136829 PMID:15367484 PMID:16097004 More... NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544 		JBrowse link
nephrotic syndrome type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 6 OMIM
ClinVar		 PMID:21722858 PMID:25741868 NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771 		JBrowse link
nephrotic syndrome type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis OMIM
ClinVar		 PMID:23274426 PMID:23542698 PMID:24747643 PMID:25349199 PMID:25741868 More... NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100 		JBrowse link
nephrotic syndrome type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 8 OMIM
ClinVar		 PMID:23867502 PMID:25741868 PMID:25741905 NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023 		JBrowse link
nephrotic syndrome type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 9 OMIM
ClinVar		 PMID:24270420 PMID:25741868 PMID:28492532 PMID:33084234 PMID:33532864 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180 		JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar		 PMID:24521109 PMID:28492532 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria | ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD Direct Evidence: marker/mechanism
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)		 OMIM
ClinVar
CTD
RGD		 PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... RGD:11087560 NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1		 CTD
ClinVar		 PMID:25417052 PMID:25741868 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 OMIM
ClinVar		 PMID:23733340 PMID:25741868 PMID:28492532 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887 		JBrowse link
Pierson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... RGD:7207425, RGD:7207425 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895 		JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564 		JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427 		JBrowse link
Puromycin Aminonucleoside Nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:3392211 RGD:12879820 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Acmsd aminocarboxymuconate semialdehyde decarboxylase IDA RGD PMID:16711654 RGD:13831123 NCBI chr13:39,200,486...39,244,337
Ensembl chr13:39,200,314...39,245,209 		JBrowse link
G Actr2 actin related protein 2 IEP mRNA, protein:increased expression:cortex of kidney (rat) RGD PMID:19617259 RGD:11530057 NCBI chr14:94,296,443...94,333,735
Ensembl chr14:94,296,443...94,340,524 		JBrowse link
G Agt angiotensinogen IEP RGD PMID:8446257 RGD:11039400 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Apoe apolipoprotein E IEP RGD PMID:8413767 RGD:11040583 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Baiap2 BAR/IMD domain containing adaptor protein 2 IEP protein:increased expression:glomerular visceral epithelial cell RGD PMID:17569780 RGD:9684990 NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134 		JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:renal glomerulus, renal interstitium, renal tubule RGD PMID:16152783 RGD:1600352 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA:increased expression:renal glomerulus (rat) RGD PMID:9175058 RGD:4144855 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin IEP mRNA, protein:altered expression:glomerulus (rat) RGD PMID:21876538 RGD:38599163 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 IEP RGD PMID:20071462 RGD:9835041 NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Ren renin IEP RGD PMID:8446257 RGD:11039400 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Xdh xanthine dehydrogenase treatment IEP RGD PMID:26121320 RGD:13208956 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:11799392 PMID:15523612 PMID:15880370 PMID:15884045 More... RGD:1599053 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Pathological Conditions, Signs and Symptoms 11297
      Signs and Symptoms 7291
        Urological Manifestations 605
          proteinuria 568
            Albuminuria 166
            Chronic Benign Proteinuria 1
            Donnai-Barrow syndrome 2
            Imerslund-Grasbeck Syndrome + 11
            hemoglobinuria + 8
            nephrosis + 284
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Urogenital Diseases 4694
        urinary system disease 2384