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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:The presence of proteins in the urine, an indicator of KIDNEY DISEASES.
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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Add2 adducin 2 ISO RGD PMID:19838659 RGD:7174725 NCBI chr 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464 		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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:464098 PMID:2046802 PMID:9259580 PMID:12937228 PMID:17890855 PMID:25398788 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a IMP
ISO		 associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 CTD PMID:17021606, PMID:20042458 RGD:6903284 NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077 		JBrowse link
G Alb albumin ISO associated with hypertension
CTD Direct Evidence: marker/mechanism		 CTD PMID:839733 PMID:1011057 PMID:7288527 PMID:7297036 PMID:10916085 PMID:12217854 PMID:14514721 PMID:16326737 PMID:18176075, PMID:8677191 RGD:1601158 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12649539 NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842518 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Proteinuria ClinVar NCBI chr13:73,950,422...74,025,237 JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:urine RGD PMID:17634209 RGD:2311211 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:7894492 PMID:8531967 PMID:8644703 PMID:8833256 PMID:8841191 PMID:9042909 PMID:9150153 PMID:10053113 PMID:10090881 PMID:10447273 PMID:10788334 PMID:11466700 PMID:12142080 PMID:15024741 PMID:15133502 PMID:15353005 PMID:15951956 PMID:15994883 PMID:16541315 PMID:17307836 PMID:18694767 PMID:18762988 PMID:18940477 PMID:19208665 PMID:20301425 PMID:20345474 PMID:20507347 PMID:20569256 PMID:21119707 PMID:21324516 PMID:21503673 PMID:22006311 PMID:22032251 PMID:22185575 PMID:22430266 PMID:23199084 PMID:23232912 PMID:23469205 PMID:23867111 PMID:24033266 PMID:24884479 PMID:25741868 PMID:26295337 PMID:26467025 PMID:26681312 PMID:26718727 PMID:27433846 PMID:28492532 PMID:29335925 PMID:29478780 PMID:29492181 PMID:30606148 PMID:31065452 PMID:32295079 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681 		JBrowse link
G C6 complement C6 IDA associated with Glomerulonephritis RGD PMID:2672823 RGD:1600682 NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) IMP RGD PMID:12427125 RGD:2326179 NCBI chr13:47,125,156...47,153,557
Ensembl chr13:47,126,741...47,154,292 		JBrowse link
G Cfh complement factor H IEP protein:altered expression:kidney: RGD PMID:22815489 RGD:7364901 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15719255 NCBI chr  X:16,170,585...16,196,691
Ensembl chr  X:16,050,780...16,196,789 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676 		JBrowse link
G Clu clusterin treatment IEP RGD PMID:18274700 RGD:9068435 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:9848783 PMID:11223851 PMID:17396119 PMID:19728970 PMID:19965530 PMID:20378821 PMID:21332469 PMID:24470729 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:28492532 PMID:28844315 PMID:29854973 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685 		JBrowse link
G Ctsb cathepsin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:3669494 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612 		JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:3669494 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP RGD PMID:16382022 RGD:2311386 NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620 		JBrowse link
G Dpp4 dipeptidylpeptidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2880436 NCBI chr 3:48,291,055...48,372,672
Ensembl chr 3:48,291,055...48,372,672 		JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus; protein:increased activity:plasma (human) RGD PMID:509177 RGD:2312414 NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945 		JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26590112 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Gusb glucuronidase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:2880436 NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP
ISO		 mRNA,protein:increased expression:kidney,urine
CTD Direct Evidence: marker/mechanism		 CTD PMID:19225054, PMID:16467126 RGD:7245980 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP associated with Hypertension;mRNA, protein:increased expression:kidney RGD PMID:22681549 RGD:8547734 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:3091246 PMID:8289579 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419 		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 PMID:9370186, PMID:12138282 RGD:6909118 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		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 PMID:25407002 PMID:25741868 PMID:26467025 PMID:27350175 NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622 		JBrowse link
G Lamb2 laminin subunit beta 2 IMP RGD PMID:21511833 RGD:7207433 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517 		JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205467 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818 		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 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221 		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 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869 		JBrowse link
G LOC304754 similar to Proteasome activator complex subunit 2 (Proteasome activator 28-beta subunit) (PA28beta) (PA28b) (Activator of multicatalytic protease subunit 2) (11S regulator complex beta subunit) (REG-beta) IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:43,079,512...43,080,402 JBrowse link
G Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:43,850,744...44,157,860
Ensembl chr13:43,850,751...44,157,924 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511 		JBrowse link
G Muc16 mucin 16, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:12169874 NCBI chr 8:18,438,838...18,639,777 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 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625 		JBrowse link
G Ncf2 neutrophil cytosolic factor 2 IMP RGD PMID:22326221 RGD:9587793 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576 		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 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779 		JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284 		JBrowse link
G Nckap5 NCK-associated protein 5 IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:42,265,875...43,049,232
Ensembl chr13:42,265,806...42,885,440 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO RGD PMID:12039968 RGD:737765 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin IDA
ISO		 ClinVar Annotator: match by term: Proteinuria ClinVar PMID:11805166 PMID:11854170 PMID:12464671 PMID:14675423 PMID:14871423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:15338398 PMID:15504144 PMID:15627790 PMID:15954915 PMID:15968559 PMID:16481888 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17216259 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18392643 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18726620 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19520069 PMID:19812541 PMID:20025681 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23645318 PMID:23800802 PMID:24227627 PMID:24509478 PMID:24519673 PMID:24715228 PMID:24856380 PMID:24969201 PMID:25599733 PMID:25741868 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:27766458 PMID:28529802 PMID:30241959 PMID:30260545 PMID:31027891 PMID:31738409 PMID:32129207, PMID:15882266 RGD:1598706 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522 		JBrowse link
G Nppb natriuretic peptide B IMP RGD PMID:26063669 RGD:12910116 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722447 NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216 		JBrowse link
G Optn optineurin IEP associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat) RGD PMID:25096716 RGD:13434904 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071462 NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071462 NCBI chr11:72,829,407...72,865,815
Ensembl chr11:72,829,238...72,865,902 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008 		JBrowse link
G Pla2g7 phospholipase A2 group VII ISO DNA:mutation: :994G>T(human) RGD PMID:10430976 RGD:7248792 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4368615 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967 		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 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16054168 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19643929 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:15758045 RGD:1357409 NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:464098 PMID:2046802 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151 		JBrowse link
G RGD1560333 similar to Ferritin light chain (Ferritin L subunit) IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:43,384,999...43,385,544 JBrowse link
G RGD1563709 similar to K-ALPHA-1 protein IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:43,401,273...43,402,677 JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19955829 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:11436868 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11436868 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11752024 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049 		JBrowse link
G Sdc1 syndecan 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:16622173 RGD:1643128 NCBI chr 6:33,885,576...33,908,038
Ensembl chr 6:33,885,495...33,908,016 		JBrowse link
G Serpina1 serpin family A member 1 IEP protein:increased expression:urine RGD PMID:11239198 RGD:1625796 NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265 		JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP RGD PMID:31250553 RGD:14985213 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316 		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 chr18:1,866,066...1,876,613
Ensembl chr18:1,866,080...1,876,613 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
G Sorcs1 sortilin-related VPS10 domain containing receptor 1 IMP associated with hypertension RGD PMID:23780848 RGD:12910977 NCBI chr 1:269,965,824...270,473,097
Ensembl chr 1:269,973,351...270,472,866 		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 chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO
IMP		 CTD Direct Evidence: marker/mechanism CTD PMID:12937228, PMID:23249995 RGD:13446413 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Tgfb1em3Mcwi transforming growth factor, beta 1; zinc finger nuclease induced mutant 3, Medical College of Wisconsin IMP RGD PMID:23249995 RGD:13446413
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 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171 		JBrowse link
G Tmem163 transmembrane protein 163 IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:44,166,306...44,345,735
Ensembl chr13:44,166,306...44,345,735 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP compared to RGD:14995941 RGD PMID:11095650 RGD:1300514 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072 		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 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681 		JBrowse link
G Vtn vitronectin IMP associated with Mesangial Proliferative Glomerulonephritis RGD PMID:9621282 RGD:10003089 NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:28492532 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564 		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 PMID:23733546, PMID:1336356, PMID:16902320 RGD:7829770, RGD:12879427 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Adm adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259 		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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515 PMID:18679781 PMID:21896938, PMID:15118671 RGD:1331525 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO associated with Diabetes Mellitus, Experimental;human gene in a rat model RGD PMID:12166624 RGD:8548813 NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956 		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 chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863 		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 chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005 		JBrowse link
G B2m beta-2 microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309 		JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631 		JBrowse link
G Casr calcium-sensing receptor IDA associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771 		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 chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355 		JBrowse link
G Cd38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr14:71,714,768...71,754,990
Ensembl chr14:71,715,269...71,754,672 		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 chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853 		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 chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713 		JBrowse link
G Csf1 colony stimulating factor 1 treatment IDA associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560 		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 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615 		JBrowse link
G Ctsb cathepsin B IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612 		JBrowse link
G Ctsl cathepsin L IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IMP RGD PMID:15939810 RGD:2307307 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167 		JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541 		JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266 		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 chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945 		JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068 		JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786 		JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:100,283,131...101,776,838 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 chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379 		JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226 PMID:29420703 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034 		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 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221 		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 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248 		JBrowse link
G Lrp2 LDL receptor related protein 2 IDA RGD PMID:12121845 RGD:1641839 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551 		JBrowse link
G Mir130a microRNA 130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124 		JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994 		JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667 		JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr  X:158,148,161...158,148,255
Ensembl chr  X:158,148,161...158,148,255 		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 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520 		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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625 		JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779 		JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522 		JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216 		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 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441 		JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372 		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 chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761 		JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210 		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 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449 		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 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491 		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 chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151 		JBrowse link
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249 		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 chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		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 chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287 		JBrowse link
G Sh2b3 SH2B adaptor protein 3 IMP RGD PMID:25776069 RGD:13442483 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757 		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 Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Spp1 secreted phosphoprotein 1 IEP RGD PMID:18443355 RGD:6903862 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		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 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496 		JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:115,624,670...115,908,248
Ensembl chr  X:115,627,653...115,908,693 		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 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535 		JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361 		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 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619 		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 deficiency
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612300		 OMIM
ClinVar		 PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621 		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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		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 Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar Annotator: match by OMIM:219900		 OMIM
ClinVar		 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12825071 PMID:15128704 PMID:15365816 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:21546516 PMID:21786142 PMID:22450360 PMID:22664570 PMID:23640116 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26565940 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28276207 PMID:28405942 PMID:28492532 PMID:28649545 PMID:28893421 PMID:29467429 PMID:30949462 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868 		JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678 		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:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679 		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 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064 		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 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar Annotator: match by OMIM:222448		 OMIM
ClinVar		 PMID:8266995 PMID:9475100 PMID:12923867 PMID:17632512 PMID:18414213 PMID:20359920 PMID:23033978 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25741868 PMID:26118977 PMID:26529358 PMID:28492532 PMID:32238909 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551 		JBrowse link
familial nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Nephrosis, congenital ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138 		JBrowse link
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 PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:11805166 PMID:14978175 PMID:16721582 PMID:24033266 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Hereditary nephrotic syndrome ClinVar PMID:1302008 PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:10762296 PMID:12050205 PMID:19484379 PMID:20442690 PMID:23295293 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:27719739 PMID:28204945 PMID:28492532 PMID:29668062 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564 		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:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799 		JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974 		JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596 		JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044 		JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257 		JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995 		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 PMID:25637381 PMID:25741868 PMID:28492532 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485 		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 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:30315938 NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257 		JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5		 ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995 		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 ClinVar
OMIM		 PMID:12693786 PMID:28805828 NCBI chr  X:156,355,376...156,356,799
Ensembl chr  X:156,355,376...156,356,799 		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 ClinVar
OMIM		 PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28805828 NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974 		JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4 ClinVar
OMIM		 PMID:28805828 NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596 		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 ClinVar
OMIM		 PMID:28805828 NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941
Ensembl chr 4:117,780,533...117,785,941 		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:28617965 PMID:29597095 PMID:30079490 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044 		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:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242 		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:30427554 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372 		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: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,904,549...78,913,372
Ensembl chr17:78,904,873...78,910,671 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021 		JBrowse link
G Akr1e2 aldo-keto reductase family 1, member E2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,365,437...69,379,944
Ensembl chr17:69,365,453...69,379,947 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,384,883...70,398,089
Ensembl chr17:70,386,707...70,398,769 		JBrowse link
G Arl5b ADP-ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:82,065,893...82,092,693
Ensembl chr17:82,065,937...82,091,362 		JBrowse link
G Asb13 ankyrin repeat and SOCS box-containing 13 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,215,401...70,234,103
Ensembl chr17:70,215,401...70,234,103 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,209,321...72,231,562
Ensembl chr17:72,209,373...72,394,271 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,448,430...77,527,888
Ensembl chr17:77,448,430...77,527,894 		JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,314,186...80,320,681
Ensembl chr17:80,314,186...80,320,681 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682 		JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,070,458...70,073,697
Ensembl chr17:70,072,156...70,073,530 		JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,044,956...70,045,886 JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,532,611...76,938,956
Ensembl chr17:76,532,611...76,938,956 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,410,629...76,454,275
Ensembl chr17:76,410,585...76,454,282 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,721,230...78,735,324
Ensembl chr17:78,719,111...78,735,324 		JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,259,269...75,660,154
Ensembl chr17:75,352,389...75,654,951 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058 		JBrowse link
G Echdc3 enoyl CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,002,304...76,022,813
Ensembl chr17:76,002,275...76,022,813 		JBrowse link
G Fam107b family with sequence similarity 107, member B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,489,667...78,689,933
Ensembl chr17:78,489,668...78,561,613 		JBrowse link
G Fam171a1 family with sequence similarity 171, member A1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,030,150...79,149,480
Ensembl chr17:79,031,423...79,085,076 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,399,093...70,437,151
Ensembl chr17:70,399,049...70,437,144 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,642,302...77,918,210 JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome
ClinVar Annotator: match by term: Barakat syndrome
ClinVar Annotator: match by OMIM:146255
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null		 OMIM
ClinVar
CTD		 PMID:10935639 PMID:11389161 PMID:15705923 PMID:16912130 PMID:17309062 PMID:18621058 PMID:19248180 PMID:19253381 PMID:20006695 PMID:21834031 PMID:23142663 PMID:23435732 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30143558 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,173,238...81,196,012
Ensembl chr17:81,173,713...81,187,739 		JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499 		JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,160,734...72,197,248
Ensembl chr17:72,160,735...72,195,509 		JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,198,882...72,216,780
Ensembl chr17:72,198,866...72,209,279 		JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,224,218...77,245,486
Ensembl chr17:77,224,112...77,246,478 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,813,656...78,829,411
Ensembl chr17:78,817,529...78,829,411 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:79,720,534...79,798,470
Ensembl chr17:79,720,535...79,798,435 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,991,786...70,020,977
Ensembl chr17:70,010,794...70,020,982 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,919,235...78,966,013
Ensembl chr17:78,921,793...78,962,476 		JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,878,673...78,903,919
Ensembl chr17:78,879,058...78,903,967 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,632,778...70,713,736
Ensembl chr17:70,684,134...70,713,726 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,079,641...76,140,428
Ensembl chr17:76,079,720...76,137,697 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,601,914...77,632,507
Ensembl chr17:77,601,877...77,663,980 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,250,444...80,311,987
Ensembl chr17:80,250,521...80,311,981 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,586,345...70,603,289
Ensembl chr17:70,586,394...70,603,267 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,915,450...78,919,144
Ensembl chr17:78,915,604...78,919,143 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,358,947...76,385,860
Ensembl chr17:76,358,944...76,385,103 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,312,562...77,340,934
Ensembl chr17:77,312,562...77,340,934 		JBrowse link
G Sfmbt2 Scm-like with four mbt domains 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:71,719,012...71,904,303
Ensembl chr17:71,723,620...71,897,972 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,455,731...81,541,742
Ensembl chr17:81,455,955...81,541,759 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,960,785...81,002,830
Ensembl chr17:80,960,785...81,002,838 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:81,209,795...81,256,111
Ensembl chr17:81,209,867...81,255,808 		JBrowse link
G Suv39h2 suppressor of variegation 3-9 homolog 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:78,762,897...78,782,016
Ensembl chr17:78,762,991...78,782,016 		JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,240,785...72,393,448
Ensembl chr17:72,209,373...72,394,271 		JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,245,672...70,299,056
Ensembl chr17:70,262,363...70,297,751 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,824,652...80,859,585
Ensembl chr17:80,826,846...80,860,195 		JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,974,272...69,982,957
Ensembl chr17:69,974,272...69,982,957 		JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,252,099...77,262,301
Ensembl chr17:77,252,100...77,261,731 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:69,959,879...69,966,532
Ensembl chr17:69,960,160...69,966,099 		JBrowse link
G Upf2 UPF2, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,176,379...76,287,246
Ensembl chr17:76,175,643...76,287,186 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,759,428...75,887,108
Ensembl chr17:75,761,469...75,886,523 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212 		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:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:28492532 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564 		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 PMID:17285242 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:28492532 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896 		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 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404 		JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
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		 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795, PMID:10080186 RGD:61796 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar PMID:28492532 NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564 		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: IMERSLUND-GRASBECK SYNDROME 2		 ClinVar
OMIM		 PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:22078000 PMID:24156255 PMID:26040326, PMID:17114957 RGD:11071839 NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896 		JBrowse link
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 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
ClinVar Annotator: match by OMIM:614748		 OMIM
ClinVar		 PMID:22512483 PMID:24088041 PMID:25810266 PMID:26633545 NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497 		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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864 		JBrowse link
G Il13 interleukin 13 IMP RGD PMID:17429054 RGD:2290347 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466 		JBrowse link
G Il17a interleukin 17A IEP Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786 		JBrowse link
G Lgals1 galectin 1 IEP protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289 		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 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647 		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 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484 		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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3301049 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863 		JBrowse link
G Angpt1 angiopoietin 1 IEP mRNA, protein:decreased expression:glomerulus RGD PMID:16626513 RGD:1626164 NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206 		JBrowse link
G Angpt2 angiopoietin 2 IDA
IEP		 mRNA:increased expression:kidney (rat) RGD PMID:18929866, PMID:18929864 RGD:2314177, RGD:2314178 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195 		JBrowse link
G Cat catalase ISO mRNA: decreased expression: glomerulus RGD PMID:20685819 RGD:7205671 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058 		JBrowse link
G Ccl1 C-C motif chemokine ligand 1 IEP RGD PMID:10867541 RGD:4891422 NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 IEP RGD PMID:10867541 RGD:4891422 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979 		JBrowse link
G Cd36 CD36 molecule IEP RGD PMID:19147991 RGD:2307223 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749 		JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:19889873 RGD:7248422 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562 		JBrowse link
G Cd59 CD59 molecule IMP RGD PMID:15843577 RGD:1600482 NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621 		JBrowse link
G Cfh complement factor H IEP protein:altered expression:kidney: RGD PMID:22815489 RGD:7364901 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:19590241 RGD:4891946 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:19590241 RGD:4891946 NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP mRNA:decreased expression RGD PMID:16574160 RGD:1599698 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:1328752 RGD:2307321 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005 		JBrowse link
G Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr12:10,636,294...10,684,273
Ensembl chr12:10,636,275...10,684,278 		JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP
ISO		 Protein:increased expression:glomerulus, podocyte
CTD Direct Evidence: marker/mechanism		 CTD PMID:16400006, PMID:16400006 RGD:1599729 NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084 		JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16418842 NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294 		JBrowse link
G Edn1 endothelin 1 IEP
ISO		 mRNA:increased expression:glomerulus (rat)
CTD Direct Evidence: marker/mechanism		 CTD PMID:7756592, PMID:9175058 RGD:4144855 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324 		JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7756592 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354 		JBrowse link
G F2 coagulation factor II IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:18541230, PMID:18541230 RGD:6893577 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031 		JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:22046528 RGD:7240570 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:17213874 RGD:7246891 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379 		JBrowse link
G Hpse heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16899518 NCBI chr14:10,534,358...10,576,686
Ensembl chr14:10,534,423...10,575,224 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059 		JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22582804 RGD:7175170 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647 		JBrowse link
G Lamb2 laminin subunit beta 2 ISS MouseDO NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517 		JBrowse link
G Lrp2 LDL receptor related protein 2 IEP mRNA:decreased expression:glomerulus RGD PMID:10919857 RGD:1641827 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551 		JBrowse link
G Nes nestin IEP
ISO		 mRNA, protein:increased expression:glomerulus
CTD Direct Evidence: marker/mechanism		 CTD PMID:16418842, PMID:17637254 RGD:1642072 NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522 		JBrowse link
G Nppa natriuretic peptide A IEP protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705 		JBrowse link
G Nppb natriuretic peptide B IEP protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531 		JBrowse link
G Pdpn podoplanin IEP mRNA, protein:decreased expression:glomerulus RGD PMID:9327748 RGD:632934 NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441 		JBrowse link
G Ptpru protein tyrosine phosphatase, receptor type, U IEP mRNA, protein:decreased expression:glomerulus RGD PMID:17457373 RGD:1642654 NCBI chr 5:149,922,374...149,996,352
Ensembl chr 5:149,922,352...149,996,334 		JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 PMID:6358456 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862 		JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP protein:altered localization:nucleus RGD PMID:19147991 RGD:2307223 NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603 		JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:decreased expression:ovary RGD PMID:16574160 RGD:1599698 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847 		JBrowse link
G Vim vimentin IEP
ISO		 mRNA,protein:increased expression:podocyte
CTD Direct Evidence: marker/mechanism		 CTD PMID:16418842, PMID:16418842 RGD:6480447 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212 		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 PMID:11304663, PMID:9453001 RGD:10046046 NCBI chr 4:154,309,426...154,359,138 JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 IEP protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884 		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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1556257 PMID:17178036, PMID:22203175 RGD:11036090 NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863 		JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19194550 RGD:2317535 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303 		JBrowse link
G Apoa1 apolipoprotein A1 IEP RGD PMID:18614621 RGD:2313652 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875 		JBrowse link
G Apob apolipoprotein B IEP protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997 		JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136 		JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498 		JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		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 chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747 		JBrowse link
G Cd2 Cd2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chr 2:203,666,706...203,680,073
Ensembl chr 2:203,666,637...203,680,083 		JBrowse link
G Cfl1 cofilin 1 treatment IEP RGD PMID:24737737 RGD:11570418 NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561 		JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760 		JBrowse link
G Ctsl cathepsin L IEP mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279 		JBrowse link
G Ddc dopa decarboxylase IEP protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737 		JBrowse link
G Ece1 endothelin converting enzyme 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671 		JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703 		JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266 		JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISS
ISO		 ClinVar Annotator: match by term: Nephrotic syndrome MouseDO
ClinVar		 PMID:25741868 PMID:26905694 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681 		JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial IEP RGD PMID:18614621 RGD:2313652 NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686 		JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:100,283,131...101,776,838 JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma RGD PMID:12824952 RGD:1625122 NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422 		JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641 		JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597 		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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854 		JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24812565 RGD:10402803 NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531 		JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587 		JBrowse link
G Itsn2 intersectin 2 ISS MouseDO NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337 		JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509 		JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IEP RGD PMID:21606114 RGD:7244390 NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29534211 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517 		JBrowse link
G Lipc lipase C, hepatic type IDA protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591 		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 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625 		JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr 8:76,644,715...76,840,240
Ensembl chr 8:76,754,492...76,839,593 		JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779 		JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341 		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 PMID:15942045, PMID:22493483 RGD:1598707, RGD:38599005 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin treatment IEP
ISO		 ClinVar Annotator: match by term: Nephrotic range proteinuria
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 PMID:12649741 PMID:14570703 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:16898497 PMID:17371932 PMID:18216321 PMID:18443213 PMID:18823551 PMID:19371226 PMID:19406966 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:23242530 PMID:24089165 PMID:24227627 PMID:24500309 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25741868 PMID:25852895 PMID:26467025 PMID:28492532 PMID:29049388 PMID:29382718 PMID:32581362, PMID:15942045 RGD:1598707 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647 		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 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013 		JBrowse link
G Plce1 phospholipase C, epsilon 1 onset ISO DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome		 ClinVar PMID:17086182 RGD:7257519 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:19194550 RGD:2317535 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11095018 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298 		JBrowse link
G Serpinc1 serpin family C member 1 disease_progression IEP
ISO		 CTD Direct Evidence: marker/mechanism CTD PMID:11304663, PMID:7532794, PMID:8979144 RGD:11035294, RGD:11038563 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192 		JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482 		JBrowse link
G Smad1 SMAD family member 1 IEP RGD PMID:17803470 RGD:1643224 NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684 		JBrowse link
G Soat2 sterol O-acyltransferase 2 IEP mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9152291, PMID:9152291 RGD:11035285 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		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:110,894,831...110,983,269
Ensembl chr  X:110,894,845...110,983,309 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665 		JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:26467025 PMID:28204945 NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535 		JBrowse link
G Vldlr very low density lipoprotein receptor IEP protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:12050205 PMID:19484379 PMID:20442690 PMID:23515051 PMID:24161391 PMID:28492532 PMID:29668062 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564 		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 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243 		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 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332 NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138 		JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar PMID:25741868 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 PMID:14675423 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18823551 PMID:19145239 PMID:19406966 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26594346 PMID:26668027 PMID:28492532 PMID:28658201 PMID:29660491 PMID:29982877 PMID:30260545 PMID:30450462 PMID:32581362 NCBI chr13:73,950,422...74,025,237 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921 		JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome		 ClinVar PMID:15338398 PMID:19406966 PMID:20172850 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28492532 NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome		 ClinVar PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14871423 PMID:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15338398 PMID:15496146 PMID:15504144 PMID:15627790 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18392643 PMID:18443213 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18596732 PMID:18683072 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20001346 PMID:20025681 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24511133 PMID:24519673 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID:27766458 PMID:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:29049388 PMID:29382718 PMID:29660491 PMID:29982877 PMID:30241959 PMID:30260545 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32581362 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522 		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 PMID:25637381 PMID:25741868 PMID:28492532 PMID:31064749 NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134 		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 PMID:12629264 PMID:12743777 PMID:12853682 PMID:16885867 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:25010710 PMID:25206283 PMID:25741868 PMID:27535533 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28984793 NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome		 ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060 		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 NCBI chr10:5,433,248...5,467,840
Ensembl chr10:5,433,248...5,467,839 		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
ClinVar Annotator: match by term: Nephrotic syndrome, type 11		 ClinVar
OMIM		 PMID:25741868 PMID:26411495 PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242 		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
ClinVar Annotator: match by term: Nephrotic syndrome, type 12		 ClinVar
OMIM		 PMID:25741868 PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980 		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
ClinVar Annotator: match by term: Nephrotic syndrome, type 13		 ClinVar
OMIM		 PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923 		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
ClinVar Annotator: match by term: Nephrotic syndrome type 14		 ClinVar
OMIM		 PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28181337 PMID:32860008 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940 		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
ClinVar Annotator: match by term: Nephrotic syndrome type 15		 ClinVar
OMIM		 PMID:25741868 PMID:27932480 NCBI chr 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518 		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 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397 		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:30179222 NCBI chr10:104,137,655...104,156,576
Ensembl chr10:104,137,655...104,156,576 		JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17 ClinVar
OMIM		 PMID:25741868 PMID:30179222 NCBI chr10:104,118,999...104,137,258
Ensembl chr10:104,118,945...104,137,319 		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:30179222 NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372 		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:30179222 NCBI chr 3:79,496,239...79,562,163
Ensembl chr 3:79,498,179...79,551,128 		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 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130 		JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588 		JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to		 ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:17899208 PMID:18216321 PMID:18823551 PMID:19406966 PMID:20507940 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25741868 PMID:26420286 PMID:26467025 PMID:26594346 PMID:28492532 PMID:28658201 PMID:30450462 PMID:32581362 NCBI chr13:73,950,422...74,025,237 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 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830 		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 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182 		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:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:32581362 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871 		JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600995		 OMIM
ClinVar
CTD		 PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14871423 PMID:14978175 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15338398 PMID:15496146 PMID:15627790 PMID:15769810 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18392643 PMID:18443213 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18683072 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:20001346 PMID:20025681 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24519673 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:27766458 PMID:27885584 PMID:28204945 PMID:28385484 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:29049388 PMID:29382718 PMID:30241959 PMID:30260545 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32581362 NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522 		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 chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647 		JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923 		JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980 		JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064 		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 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9529364 PMID:9607189 PMID:10470095 PMID:10505700 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:23497137 PMID:23715653 PMID:23935527 PMID:25501161 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27899157 PMID:28204945 PMID:28492532 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564 		JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170 		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 NCBI chr  X:110,894,831...110,983,269
Ensembl chr  X:110,894,845...110,983,309 		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 ClinVar
OMIM		 PMID:29058690 NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21 ClinVar PMID:29058690 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346 		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 PMID:25741868 PMID:26668027 NCBI chr 1:257,469,538...257,498,844
Ensembl chr 1:257,469,538...257,498,844 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar Annotator: match by OMIM:610725		 OMIM
ClinVar		 PMID:17086182 PMID:18975016 PMID:20507940 PMID:20591883 PMID:22865593 PMID:23595123 PMID:24130771 PMID:24247120 PMID:24500309 PMID:24902943 PMID:25060053 PMID:25741868 PMID:26467025 PMID:26668027 PMID:27766458 PMID:28492532 PMID:31319225 NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064 		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 OMIM
ClinVar		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:29668062 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564 		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
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614199		 OMIM
ClinVar		 PMID:7885444 PMID:14136829 PMID:16097004 PMID:16912710 PMID:18594871 PMID:19251977 PMID:20556798 PMID:21236492 PMID:21763483 PMID:23349334 PMID:23595123 PMID:25741868 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517 		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 6:127,500,014...127,508,470
Ensembl chr 6:127,500,016...127,508,452 		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 This custom term has been created by RGD curators. OMIM
ClinVar		 PMID:21722858 NCBI chr 4:171,250,766...171,461,571
Ensembl chr 4:171,250,818...171,461,677 		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: Nephrotic syndrome, type 7
ClinVar Annotator: match by OMIM:615008		 OMIM
ClinVar		 PMID:23274426 PMID:23542698 PMID:24747643 PMID:25741868 PMID:29590070 NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989 		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 OMIM:615244 OMIM
ClinVar		 PMID:23867502 NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550 		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
ClinVar Annotator: match by OMIM:615573		 OMIM
ClinVar		 PMID:24270420 NCBI chr 1:84,043,487...84,067,066
Ensembl chr 1:84,044,551...84,067,066 		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 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar		 PMID:24521109 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD Direct Evidence: marker/mechanism
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by OMIM:300818		 OMIM
ClinVar
CTD		 PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 PMID:9233558 PMID:9787183 PMID:10220445 PMID:15720958 PMID:16767100 PMID:25741868 PMID:28492532, PMID:12424196 RGD:11087560 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560 		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 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		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
ClinVar Annotator: match by OMIM:615399		 OMIM
ClinVar		 PMID:23733340 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739 		JBrowse link
Pierson syndrome 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: Pierson syndrome
ClinVar Annotator: match by OMIM:609049
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2206901 PMID:14136829 PMID:15367484 PMID:15372515 PMID:16097004 PMID:16912710 PMID:17256789 PMID:18594871 PMID:20507940 PMID:20556798 PMID:21763483 PMID:23349334 PMID:23595123 PMID:24033266 PMID:25741868 PMID:26108971 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532 PMID:28780565 PMID:29127259 PMID:32860008, PMID:15367484, PMID:15367484 RGD:7207425, RGD:7207425 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517 		JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:143,702,623...143,720,995
Ensembl chr 7:143,707,237...143,720,595 		JBrowse link
PROTEINURIA, CHRONIC BENIGN 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 ClinVar
OMIM		 PMID:31613795 NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243 		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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822 		JBrowse link
G Acmsd aminocarboxymuconate semialdehyde decarboxylase IDA RGD PMID:16711654 RGD:13831123 NCBI chr13:44,424,689...44,468,734
Ensembl chr13:44,424,689...44,468,734 		JBrowse link
G Actr2 actin related protein 2 IEP mRNA, protein:increased expression:cortex of kidney (rat) RGD PMID:19617259 RGD:11530057 NCBI chr14:104,338,486...104,375,840
Ensembl chr14:104,340,434...104,375,649 		JBrowse link
G Agt angiotensinogen IEP RGD PMID:8446257 RGD:11039400 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433 		JBrowse link
G Apoe apolipoprotein E IEP RGD PMID:8413767 RGD:11040583 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057 		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 chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115 		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 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA:increased expression:renal glomerulus (rat) RGD PMID:9175058 RGD:4144855 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611 		JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin IEP mRNA, protein:altered expression:glomerulus (rat) RGD PMID:21876538 RGD:38599163 NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 IEP RGD PMID:20071462 RGD:9835041 NCBI chr11:72,829,407...72,865,815
Ensembl chr11:72,829,238...72,865,902 		JBrowse link
G Ren renin IEP RGD PMID:8446257 RGD:11039400 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151 		JBrowse link
G Xdh xanthine dehydrogenase treatment IEP RGD PMID:26121320 RGD:13208956 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494 		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
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
ClinVar Annotator: match by OMIM:242900
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11799392 PMID:15523612 PMID:15880370 PMID:16237566 PMID:16840568 PMID:17089404 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23671665 PMID:24589093 PMID:25741868 PMID:25748404 PMID:26089390 PMID:26195148 PMID:26499378 PMID:28492532 PMID:28780565 PMID:28796785 PMID:29802247 PMID:30026777 PMID:30784191, PMID:11799392 RGD:1599053 NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Pathological Conditions, Signs and Symptoms 8761
      Signs and Symptoms 5205
        Urological Manifestations 545
          proteinuria 508
            Albuminuria 156
            Donnai-Barrow syndrome 2
            Imerslund-Grasbeck Syndrome + 4
            PROTEINURIA, CHRONIC BENIGN 1
            hemoglobinuria + 8
            nephrosis + 239
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        urinary system disease 2074
          kidney disease 1860
            proteinuria 508
              Albuminuria 156
              Donnai-Barrow syndrome 2
              Imerslund-Grasbeck Syndrome + 4
              PROTEINURIA, CHRONIC BENIGN 1
              hemoglobinuria + 8
              nephrosis + 239
paths to the root