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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.



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proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme severity
treatment
ISO
IMP
associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human)
associated with Acute Kidney Injury
RGD PMID:10193250 PMID:10844603 RGD:11038828, RGD:12879396 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Add2 adducin 2 ISO RGD PMID:19838659 RGD:7174725 NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505
JBrowse link
G Add3 adducin 3 IMP RGD PMID:32029431 RGD:150340736 NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
JBrowse link
G Ager advanced glycosylation end product-specific receptor susceptibility ISO associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human) RGD PMID:12606536 RGD:1566451 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:464098 PMID:2046802 PMID:9259580 PMID:12937228 PMID:17890855 More... NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Agtr1a angiotensin II receptor, type 1a IMP
ISO
associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17021606 PMID:20042458 RGD:6903284 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Alb albumin ISO associated with hypertension
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:839733 PMID:1011057 PMID:7288527 PMID:7297036 PMID:10916085 More... RGD:1601158 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12649539 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP RGD PMID:7933831 RGD:1300446 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
JBrowse link
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease IAGP RGD PMID:7933831 RGD:1300446
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:20842518 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Proteinuria ClinVar NCBI chr13:68,471,957...68,544,788 JBrowse link
G B2m beta-2 microglobulin ISO protein:increased expression:urine RGD PMID:17634209 RGD:2311211 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G C6 complement C6 IDA associated with Glomerulonephritis RGD PMID:2672823 RGD:1600682 NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
JBrowse link
G Cd55 CD55 molecule (Cromer blood group) IMP RGD PMID:12427125 RGD:2326179 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
JBrowse link
G Cd8a CD8a molecule ISO associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse) RGD PMID:9713350 RGD:124715441 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
JBrowse link
G Cfh complement factor H IEP protein:altered expression:kidney: RGD PMID:22815489 RGD:7364901 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15719255 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
JBrowse link
G Clu clusterin treatment IEP RGD PMID:18274700 RGD:9068435 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Ctsb cathepsin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:3669494 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:3669494 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 IMP RGD PMID:16382022 RGD:2311386 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cybb cytochrome b-245 beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:20116427 NCBI chr  X:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Dnase1 deoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22479529 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
JBrowse link
G Dpp4 dipeptidylpeptidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2880436 NCBI chr 3:46,962,243...47,043,870
Ensembl chr 3:46,962,243...47,043,901
JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus; protein:increased activity:plasma (human) RGD PMID:509177 RGD:2312414 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Fas Fas cell surface death receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26590112 PMID:33632240 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Gusb glucuronidase, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:2880436 NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP
ISO
mRNA,protein:increased expression:kidney,urine
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19225054 PMID:16467126 RGD:7245980 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor IMP RGD PMID:21325752 RGD:150520024 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
G Icam1 intercellular adhesion molecule 1 IEP associated with Hypertension;mRNA, protein:increased expression:kidney RGD PMID:22681549 RGD:8547734 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:3091246 PMID:8289579 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:9370186 PMID:12138282 RGD:6909118 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human) RGD PMID:19377212 RGD:2307194 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:23515051 PMID:25165188 More... NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
JBrowse link
G Lamb2 laminin subunit beta 2 IMP RGD PMID:21511833 RGD:7207433 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G Lep leptin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205467 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lepr leptin receptor sexual_dimorphism IAGP
IMP
compared to BN
compared to SS/JrHsdMcwi
RGD PMID:20159938 PMID:27465994 RGD:7365117, RGD:12911217 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Leprem2Mcwi leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP compared to SS/JrHsdMcwi RGD PMID:27465994 RGD:12911217
G Leprfa leptin receptor; fa mutant sexual_dimorphism IAGP compared to BN RGD PMID:20159938 RGD:7365117
G Lmx1b LIM homeobox transcription factor 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19147669 PMID:20199424 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
G 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 chr13:38,189,375...38,190,347 JBrowse link
G Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:38,675,776...38,959,697
Ensembl chr13:38,676,119...38,959,513
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
JBrowse link
G Muc16 mucin 16, cell surface associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:12169874 NCBI chr 8:16,164,531...16,323,126 JBrowse link
G Myh9 myosin, heavy chain 9 disease_progression ISO associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human)
associated with anemia, sickle cell:DNA:SNPs: :
RGD PMID:20200500 PMID:21910715 RGD:6903242, RGD:6903258 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 IMP RGD PMID:22326221 RGD:9587793 NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277
JBrowse link
G Ncf2em1Mcwi neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP RGD PMID:22326221 RGD:9587793
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
JBrowse link
G Nckap5 NCK-associated protein 5 IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:37,369,948...38,283,257
Ensembl chr13:37,370,792...38,283,268
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO RGD PMID:12039968 RGD:737765 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin IDA
ISO
ClinVar Annotator: match by term: Proteinuria ClinVar
RGD
PMID:11805166 PMID:11854170 PMID:12464671 PMID:14675423 PMID:14871423 More... RGD:1598706 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
JBrowse link
G Nppb natriuretic peptide B IMP RGD PMID:26063669 RGD:12910116 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24722447 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
JBrowse link
G Optn optineurin IEP associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat) RGD PMID:25096716 RGD:13434904 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pak1 p21 (RAC1) activated kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071462 NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20071462 NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO DNA:mutation: :994G>T(human) RGD PMID:10430976 RGD:7248792 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4368615 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Pon1 paraoxonase 1 ISO associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human) RGD PMID:9591753 RGD:8547663 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:16054168 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19643929 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP RGD PMID:15758045 RGD:1357409 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:464098 PMID:2046802 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G RGD1560333 similar to Ferritin light chain (Ferritin L subunit) IAGP RGD PMID:21257920 RGD:12798539
G RGD1563709 similar to K-ALPHA-1 protein IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:38,507,481...38,508,832 JBrowse link
G Rhoa ras homolog family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19955829 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO CTD Direct Evidence: marker/mechanism CTD PMID:11436868 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11436868 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11752024 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Sdc1 syndecan 1 IEP mRNA, protein:increased expression:glomerulus RGD PMID:16622173 RGD:1643128 NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
JBrowse link
G Serpina1 serpin family A member 1 IEP protein:increased expression:urine RGD PMID:11239198 RGD:1625796 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Slc9a1 solute carrier family 9 member A1 IMP RGD PMID:31250553 RGD:14985213 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624
JBrowse link
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide IDA associated with Lupus Erythematosus, Systemic in a mouse model RGD PMID:16418806 RGD:10755721 NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sorcs1 sortilin-related VPS10 domain containing receptor 1 IMP associated with hypertension RGD PMID:23780848 RGD:12910977 NCBI chr 1:249,080,662...249,594,520
Ensembl chr 1:249,081,355...249,594,507
JBrowse link
G Sorcs1em1Mcwi sortilin-related VPS10 domain containing receptor 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP associated with hypertension RGD PMID:23780848 RGD:12910977
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11972865 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ameliorates ISO
IMP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12937228 PMID:23249995 RGD:13446413 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr9 toll-like receptor 9 ISO associated with Lupus Erythematosus, Systemic
associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human)
RGD PMID:23467932 PMID:22787315 RGD:7245987, RGD:7245989 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tmem163 transmembrane protein 163 IAGP RGD PMID:21257920 RGD:12798539 NCBI chr13:38,967,913...39,141,664
Ensembl chr13:38,968,101...39,141,452
JBrowse link
G Tmem67 transmembrane protein 67 IAGP compared to RGD:14995941 RGD PMID:11095650 RGD:1300514 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP compared to RGD:14995941 RGD PMID:11095650 RGD:1300514
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO RGD PMID:23385000 RGD:7247440 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808199 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vtn vitronectin IMP associated with Mesangial Proliferative Glomerulonephritis RGD PMID:9621282 RGD:10003089 NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Proteinuria ClinVar PMID:28492532 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO
IMP
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
associated with Diabetic Nephropathies
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23733546 PMID:1336356 PMID:16902320 RGD:7829770, RGD:12879427 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Adm adrenomedullin ISO associated with Hypertension RGD PMID:19424162 RGD:2313311 NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO
IDA
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetic Nephropathies
RGD PMID:21607631 PMID:21796806 PMID:20627935 RGD:7243944, RGD:7244184, RGD:7244135 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515 PMID:18679781 PMID:21896938 PMID:15118671 RGD:1331525 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO associated with Diabetes Mellitus, Experimental;human gene in a rat model RGD PMID:12166624 RGD:8548813 NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
JBrowse link
G Alb albumin ISO
IEP
associated with Diabetes Mellitus, Insulin-Dependent
associated with hypertension
RGD PMID:19414946 PMID:15102963 RGD:2306884, RGD:1601157 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alox12 arachidonate 12-lipoxygenase, 12S type ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) RGD PMID:18640486 RGD:2313875 NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
JBrowse link
G B2m beta-2 microglobulin ISO associated with HIV infections;protein:increased expression:urine RGD PMID:18469311 RGD:6482713 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Casp1 caspase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
JBrowse link
G Casr calcium-sensing receptor IDA associated with Uremia RGD PMID:19188910 RGD:7205661 NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:urine RGD PMID:21113841 RGD:5683918 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Cd38 CD38 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21992601 NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human) RGD PMID:17183695 RGD:5491201 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:21752484 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
JBrowse link
G Crp C-reactive protein severity ISO associated with Anemia, Sickle Cell; protein:increased expression:serum
associated with hypertension
RGD PMID:20710104 PMID:20016210 RGD:6907441, RGD:6909147 NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
JBrowse link
G Csf1 colony stimulating factor 1 treatment IDA associated with Hypercholesterolemia and Diabetes Mellitus, Experimental RGD PMID:8573750 RGD:7257591 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
JBrowse link
G Cst3 cystatin C ISO associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) RGD PMID:19596469 RGD:2314309 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Ctsb cathepsin B IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Ctsl cathepsin L IDA associated with Hypertension RGD PMID:19023196 RGD:2315726 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IMP RGD PMID:15939810 RGD:2307307 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Drd1 dopamine receptor D1 ISO DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
JBrowse link
G Edn1 endothelin 1 IEP protein:increased expression:renal papilla (rat) RGD PMID:20666571 RGD:4144838 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Epo erythropoietin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum RGD PMID:16921186 RGD:2313841 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G F7 coagulation factor VII no_association
severity
ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD PMID:8458188 PMID:8250495 PMID:9187410 RGD:2312410, RGD:2312407, RGD:2312406 NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
JBrowse link
G Fbn1 fibrillin 1 ISO associated with Hypertension RGD PMID:16380460 RGD:7365080 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus; protein:increased activity:serum RGD PMID:15890893 RGD:2315606 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism CTD PMID:16267159 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO associated with Anemia, Sickle Cell;protein:increased expression:urine: RGD PMID:21630304 RGD:7245982 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO RGD PMID:16645019 RGD:1598420 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:23103566 RGD:7175089 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9861226 PMID:29420703 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17065336 PMID:20175764 PMID:23159718 PMID:28130181 PMID:29988851 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
JBrowse link
G Lipc lipase C, hepatic type ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) RGD PMID:8666151 RGD:2308836 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lrp2 LDL receptor related protein 2 IDA RGD PMID:12121845 RGD:1641839 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Mir130a microRNA 130a ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
JBrowse link
G Mir145 microRNA 145 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir322 microRNA 322 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24223694 NCBI chr  X:132,806,594...132,806,688 JBrowse link
G Mmp9 matrix metallopeptidase 9 onset ISO associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) RGD PMID:9774113 RGD:7207214 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) RGD PMID:22554825 RGD:6893631 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Myh9 myosin, heavy chain 9 ISO associated with hypertension;DNA:SNPs: : RGD PMID:19153477 RGD:6903241 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
JBrowse link
G Nr4a1 nuclear receptor subfamily 4, group A, member 1 IMP compared to FHH RGD PMID:24722447 RGD:12910103 NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
JBrowse link
G Nr4a1m1Mcwi nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin IMP compared to FHH RGD PMID:24722447 RGD:12910103
G Pdpn podoplanin IEP RGD PMID:18199599 RGD:2292240 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
JBrowse link
G Pon1 paraoxonase 1 ISO DNA:polymorphisms:promoter, cds (human) RGD PMID:16949520 RGD:2313272 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) RGD PMID:22684233 RGD:7242025 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17890881 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Pth parathyroid hormone ISO associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) RGD PMID:23066118 RGD:7242730 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Pycard PYD and CARD domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22647887 NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
JBrowse link
G Rab38 RAB38, member RAS oncogene family IAGP compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi RGD PMID:15758045 PMID:23291471 RGD:1357409, RGD:13782139 NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
JBrowse link
G Rab38em1Mcwi RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IAGP compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi RGD PMID:23291471 RGD:13782139
G Rag1 recombination activating 1 IMP RGD PMID:23364523 RGD:7207429 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag1em1Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP as compare to o.4% NaCl diet RGD PMID:23364523 RGD:7207429
G Rag1em2Mcwi recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin IMP RGD PMID:23364523 RGD:7207429
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12414515 PMID:18679781 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Retn resistin ISO associated with Hypertension;protein:increased expression:blood RGD PMID:20203628 RGD:7207150 NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
JBrowse link
G Serpine1 serpin family E member 1 ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) RGD PMID:9201602 RGD:8547710 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO associated with Diabetes Mellitus, Experimental; human gene in a rat model RGD PMID:16731830 RGD:8554875 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Sh2b3 SH2B adaptor protein 3 IMP RGD PMID:25776069 RGD:13442483 NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Sh2b3em1Mcwi SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin IMP RGD PMID:25776069 RGD:13442483
G Shc1 SHC adaptor protein 1 ameliorates IMP RGD PMID:27270176 RGD:12792230 NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
JBrowse link
G Shc1em4Mcwi SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin ameliorates IMP RGD PMID:27270176 RGD:12792230
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17942768 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spp1 secreted phosphoprotein 1 IEP RGD PMID:18443355 RGD:6903862 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
JBrowse link
G Tmem63c transmembrane protein 63c IEP mRNA:increased expression:kidney,renal glomerulus (rat) RGD PMID:30900988 RGD:15023481 NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17167242 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 IEP associated with Hypertension;mRNA, protein:increased expression:kidney cortex RGD PMID:19887786 RGD:7247603 NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
JBrowse link
G Trpc5 transient receptor potential cation channel, subfamily C, member 5 ISO RGD PMID:24231357 RGD:10043830 NCBI chr  X:107,946,163...108,230,978
Ensembl chr  X:107,939,131...108,230,991
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO
IEP
associated with Hypertension;mRNA:decreased expression:kidney cortex RGD PMID:21839714 PMID:19887786 RGD:7247445, RGD:7247603 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Tslp thymic stromal lymphopoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17686814 NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18299691 RGD:2312766 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
CD59 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd59 CD59 molecule ISO ClinVar Annotator: match by term: Cd59 deficiency
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612300
OMIM
ClinVar
PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar Annotator: match by OMIM:219900
OMIM
ClinVar
PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More... NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More... NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15367484 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: 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 More... NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
familial nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Nephrosis, congenital ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More... NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: Congenital nephrotic syndrome ClinVar PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More... NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
JBrowse link
Galloway-Mowat syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lage3 L antigen family, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
G Osgep O-sialoglycoprotein endopeptidase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
JBrowse link
G Tp53rk TP53 regulating kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 3:155,529,298...155,532,662
Ensembl chr 3:155,529,298...155,532,728
JBrowse link
G Tprkb Tp53rk binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28805828 NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome ClinVar PMID:25741868 PMID:30079490 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
G Wdr73 WD repeat domain 73 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25466283 NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
JBrowse link
G Zfp592 zinc finger protein 592 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20531441 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
JBrowse link
Galloway-Mowat syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eng endoglin ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More... NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Wdr73 WD repeat domain 73 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 OMIM
ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More... NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
JBrowse link
G Zfp592 zinc finger protein 592 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
JBrowse link
Galloway-Mowat syndrome 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:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632
JBrowse link
Galloway-Mowat syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osgep O-sialoglycoprotein endopeptidase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
ClinVar
OMIM
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More... NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
JBrowse link
Galloway-Mowat syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53rk TP53 regulating kinase ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4
ClinVar
OMIM
PMID:25741868 PMID:28805828 NCBI chr 3:155,529,298...155,532,662
Ensembl chr 3:155,529,298...155,532,728
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 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
JBrowse link
Galloway-Mowat Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 6
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6
OMIM
ClinVar
PMID:25741868 PMID:26416026 PMID:28617965 PMID:29597095 PMID:30079490 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
Galloway-Mowat Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7 OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222 NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
JBrowse link
Galloway-Mowat Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Galloway-Mowat syndrome 8
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8
OMIM
ClinVar
PMID:11793129 PMID:30427554 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
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 chr17:74,903,936...74,909,977
Ensembl chr17:74,903,177...74,905,811
JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Barakat syndrome
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
ClinVar PMID:25741868 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
JBrowse link
G AKR1C3l1 aldo-keto reductase family 1 member C3-like 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,847,580...65,881,488
Ensembl chr17:65,835,634...65,881,488
JBrowse link
G Akr1e2 aldo-keto reductase family 1, member E2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:65,735,909...65,750,441
Ensembl chr17:65,735,943...65,750,441
JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533
JBrowse link
G Arl5b ADP-ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,955,749...77,983,745
Ensembl chr17:77,955,818...77,979,854
JBrowse link
G Asb13 ankyrin repeat and SOCS box-containing 13 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337
JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,423,927...68,446,169 JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,483,212...73,566,221
Ensembl chr17:73,485,282...73,567,559
JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,121,832...76,128,327
Ensembl chr17:76,119,447...76,128,530
JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175
JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,394,433...66,395,390 JBrowse link
G Camk1d calcium/calmodulin-dependent protein kinase ID ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556
JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337
JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,459,296...72,502,948
Ensembl chr17:72,459,282...72,503,316
JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,714,564...74,728,639
Ensembl chr17:74,713,564...74,728,639
JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
JBrowse link
G Echdc3 enoyl CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,070,697...72,093,519
Ensembl chr17:72,070,668...72,093,516
JBrowse link
G Fam107b family with sequence similarity 107, member B ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,478,608...74,685,027
Ensembl chr17:74,478,608...74,684,989
JBrowse link
G Fam171a1 family with sequence similarity 171, member A1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,024,582...75,148,348
Ensembl chr17:75,024,575...75,150,255
JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590
JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,667,787...74,258,487 JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
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 More... NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073
JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278
JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510
JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:68,375,518...68,411,849
Ensembl chr17:68,375,567...68,411,841
JBrowse link
G Itih5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,248,115...68,352,216 JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:68,413,483...68,431,392
Ensembl chr17:68,413,486...68,423,845
JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364
JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433
JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854
JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441
JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080
JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,877,651...74,902,517
Ensembl chr17:74,877,655...74,902,518
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,151,961...72,187,524
Ensembl chr17:72,151,872...72,185,825
JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979
JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627
JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014
JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431
JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454
JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494
JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,354,435...73,382,803
Ensembl chr17:73,356,530...73,382,593
JBrowse link
G Sfmbt2 Scm-like with four mbt domains 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:67,934,296...68,128,905
Ensembl chr17:67,935,904...68,128,781
JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353
JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,740,755...76,883,766
Ensembl chr17:76,745,224...76,884,299
JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467
JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:68,455,389...68,608,367 JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135
JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439
JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355
JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:73,293,977...73,303,728
Ensembl chr17:73,293,978...73,303,611
JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:66,309,952...66,315,571
Ensembl chr17:66,309,371...66,315,990
JBrowse link
G Upf2 UPF2, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:72,224,575...72,335,896
Ensembl chr17:72,225,316...72,335,855
JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027
JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Barakat syndrome ClinVar PMID:25741868 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amn amnion associated transmembrane protein ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome ClinVar PMID:28492532 NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
JBrowse link
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: Imerslund-Gräsbeck syndrome 1
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
G Cblif cobalamin binding intrinsic factor ISO DNA:polymorphisms, missense mutations, splice sites:exon,intron:
protein:increased excretion:urine:
RGD PMID:15738392 PMID:10435666 RGD:11049583, RGD:11049586 NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
JBrowse link
G Cubn cubilin ISO DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1
ClinVar
OMIM
RGD
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More... RGD:61796 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
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
RGD
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 More... RGD:11071839 NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
JBrowse link
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:25741868 PMID:25810266 PMID:26633545 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
JBrowse link
lipoid nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A treatment IEP RGD PMID:24119646 RGD:10043363 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Il13 interleukin 13 IMP RGD PMID:17429054 RGD:2290347 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A IEP Protein:increased expression:plasma (rat) RGD PMID:22772331 RGD:9068937 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Lgals1 galectin 1 IEP protein:decreased expression:glomerulus, podocytes (rat) RGD PMID:19079321 RGD:2316526 NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Minimal change glomerulonephritis ClinVar PMID:23687361 PMID:32581362 NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 disease_progression ISO RGD PMID:17890747 RGD:7174718 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Stat6 signal transducer and activator of transcription 6 severity
no_association
ISO DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:polymorphism:3' utr:2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
RGD PMID:12900808 PMID:15687724 PMID:19011907 RGD:7244138, RGD:7244146, RGD:7244144 NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
JBrowse link
nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IEP
IMP
protein:increased activity:multiple (rats)
Adriamycin Nephrosis
RGD PMID:8303709 PMID:8665777 RGD:8157608, RGD:12879388 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD PMID:3301049 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Angpt1 angiopoietin 1 IEP mRNA, protein:decreased expression:glomerulus RGD PMID:16626513 RGD:1626164 NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
JBrowse link
G Angpt2 angiopoietin 2 IDA
IEP
mRNA:increased expression:kidney (rat) RGD PMID:18929866 PMID:18929864 RGD:2314177, RGD:2314178 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
JBrowse link
G Cat catalase ISO mRNA: decreased expression: glomerulus RGD PMID:20685819 RGD:7205671 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccl1 C-C motif chemokine ligand 1 IEP RGD PMID:10867541 RGD:4891422 NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 IEP RGD PMID:10867541 RGD:4891422 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
JBrowse link
G Cd36 CD36 molecule IEP RGD PMID:19147991 RGD:2307223 NCBI chr 4:17,317,343...17,410,084 JBrowse link
G Cd40lg CD40 ligand ISO RGD PMID:19889873 RGD:7248422 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd59 CD59 molecule IMP RGD PMID:15843577 RGD:1600482 NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
JBrowse link
G Cfh complement factor H IEP protein:altered expression:kidney: RGD PMID:22815489 RGD:7364901 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:19590241 RGD:4891946 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP RGD PMID:19590241 RGD:4891946 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 IEP mRNA:decreased expression RGD PMID:16574160 RGD:1599698 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 IDA RGD PMID:1328752 RGD:2307321 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Cyp3a18 cytochrome P450, family 3, subfamily a, polypeptide 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr12:8,880,528...8,930,382
Ensembl chr12:8,880,528...8,930,381
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18725544 NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 IEP
ISO
Protein:increased expression:glomerulus, podocyte
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16400006 PMID:16400006 RGD:1599729 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Des desmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16418842 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
JBrowse link
G Edn1 endothelin 1 IEP
ISO
mRNA:increased expression:glomerulus (rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7756592 PMID:9175058 RGD:4144855 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Ednrb endothelin receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:7756592 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G F2 coagulation factor II IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18541230 PMID:18541230 RGD:6893577 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:22046528 RGD:7240570 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:17213874 RGD:7246891 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hpse heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16899518 NCBI chr14:8,896,593...8,937,011
Ensembl chr14:8,896,593...8,937,010
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
JBrowse link
G Il1b interleukin 1 beta IDA RGD PMID:22582804 RGD:7175170 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Itgb2 integrin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12845231 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Lamb2 laminin subunit beta 2 ISS MouseDO NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G Lrp2 LDL receptor related protein 2 IEP mRNA:decreased expression:glomerulus RGD PMID:10919857 RGD:1641827 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Nes nestin IEP
ISO
mRNA, protein:increased expression:glomerulus
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16418842 PMID:17637254 RGD:1642072 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15684566 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
JBrowse link
G Nppa natriuretic peptide A IEP protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nppb natriuretic peptide B IEP protein:increased expression:plasma RGD PMID:8289999 RGD:7247315 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
JBrowse link
G Pdpn podoplanin IEP mRNA, protein:decreased expression:glomerulus RGD PMID:9327748 RGD:632934 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
JBrowse link
G Ptpru protein tyrosine phosphatase, receptor type, U IEP mRNA, protein:decreased expression:glomerulus RGD PMID:17457373 RGD:1642654 NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768
JBrowse link
G Ren renin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2046802 PMID:6358456 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:2273594 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Srebf2 sterol regulatory element binding transcription factor 2 IEP protein:altered localization:nucleus RGD PMID:19147991 RGD:2307223 NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:decreased expression:ovary RGD PMID:16574160 RGD:1599698 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Vim vimentin IEP
ISO
mRNA,protein:increased expression:podocyte
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16418842 PMID:16418842 RGD:6480447 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
JBrowse link
nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin IEP
ISO
protein:increased expression:serum
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11304663 PMID:9453001 RGD:10046046 NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 IEP protein:increased expression:kidney (rat) RGD PMID:19147991 RGD:2307223 NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
JBrowse link
G Ace angiotensin I converting enzyme treatment IDA
IMP
protein:increased activity:multiple RGD PMID:2175683 PMID:15942045 RGD:11038913, RGD:1598707 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
JBrowse link
G Alb albumin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:1556257 PMID:17178036 PMID:22203175 RGD:11036090 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Alox5 arachidonate 5-lipoxygenase IMP RGD PMID:19194550 RGD:2317535 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Anln anillin, actin binding protein ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28166811 PMID:28492532 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
JBrowse link
G Apoa1 apolipoprotein A1 IEP RGD PMID:18614621 RGD:2313652 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apob apolipoprotein B IEP protein:increased expression:serum (rat) RGD PMID:11135070 RGD:11353965 NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
JBrowse link
G Apoc2 apolipoprotein C2 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
JBrowse link
G Apoc3 apolipoprotein C3 ISO protein:increased expression:serum RGD PMID:8366982 RGD:2313970 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Apoe apolipoprotein E ISO protein:increased expression:serum (human) RGD PMID:2381443 RGD:12904707 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr14:6,800,631...7,184,001
Ensembl chr14:6,800,631...7,183,823
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic range proteinuria
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 More... NCBI chr13:68,471,957...68,544,788 JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G Cd2 Cd2 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:2465858 NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026
JBrowse link
G Cfi complement factor I disease_progression ISO RGD PMID:9745775 RGD:108019049 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
JBrowse link
G Cfl1 cofilin 1 treatment IEP RGD PMID:24737737 RGD:11570418 NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28844315 PMID:30828794 PMID:34113375 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33532864 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500
JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
JBrowse link
G Cpb2 carboxypeptidase B2 ISO protein:increased activity,increased expression:plasma RGD PMID:12439147 RGD:7243124 NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
JBrowse link
G Ctsl cathepsin L IEP mRNA, protein:increased expression:glomerulus (rat) RGD PMID:15197181 RGD:1304337 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Ddc dopa decarboxylase IEP protein:decreased activity:renal cortex (rat) RGD PMID:16204272 RGD:5129145 NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 IEP mRNA,protein:increased expression:liver: RGD PMID:15200432 RGD:10400845 NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
JBrowse link
G Ece1 endothelin converting enzyme 1 IEP mRNA,protein:increased expression:kidney: RGD PMID:12972712 RGD:7244242 NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
JBrowse link
G Ednra endothelin receptor type A IEP mRNA:increased expression:Glomerulus RGD PMID:12972712 RGD:7244242 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:23128049 RGD:11041725 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G F3 coagulation factor III, tissue factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
JBrowse link
G Fat1 FAT atypical cadherin 1 ISS
ISO
ClinVar Annotator: match by term: Nephrotic syndrome MouseDO
ClinVar
PMID:25741868 PMID:26905694 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21441931 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO protein: reduced expression: : RGD PMID:12185480 RGD:7242688 NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial IEP RGD PMID:18614621 RGD:2313652 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
JBrowse link
G Gpc5 glypican 5 ISO CTD Direct Evidence: therapeutic CTD PMID:21441931 NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
JBrowse link
G Gpx3 glutathione peroxidase 3 ISO protein:decreased expression:plasma RGD PMID:12824952 RGD:1625122 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Guca2b guanylate cyclase activator 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966
JBrowse link
G Hsd11b2 hydroxysteroid 11-beta dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15199296 NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:11248742 RGD:12910863 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
JBrowse link
G Il1b interleukin 1 beta severity IEP
ISO
protein:increased expression:serum (human)
associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)
RGD PMID:21359962 PMID:21103916 PMID:14760799 RGD:7175324, RGD:7175339, RGD:7175337 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) RGD PMID:14758530 RGD:6907374 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19242727 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il4 interleukin 4 treatment IEP RGD PMID:24812565 RGD:10402803 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il5 interleukin 5 ISO RGD PMID:22665336 RGD:7240715 NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
JBrowse link
G Inf2 inverted formin 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Itsn2 intersectin 2 ISS MouseDO NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:17823504 RGD:6483037 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kcnj1 potassium inwardly-rectifying channel, subfamily J, member 1 IEP RGD PMID:21606114 RGD:7244390 NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29534211 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G Lipc lipase C, hepatic type IDA protein, mRNA:reduced expression:liver (rat) RGD PMID:9186885 RGD:2308789 NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 MouseDO NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Myo1e myosin IE ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
JBrowse link
G Nck1 NCK adaptor protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
JBrowse link
G Nck2 NCK adaptor protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19443634 NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
JBrowse link
G Nfkbia NFKB inhibitor alpha exacerbates ISO protein:decreased expression:peripheral blood mononuclear cell (human) RGD PMID:17441336 RGD:127285019 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
JBrowse link
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:decreased expression:kidney RGD PMID:12853118 RGD:1642133 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin treatment IEP
ISO
ISS
mRNA,protein:decreased expression:podocyte (mouse)
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
MouseDO
RGD
PMID:15942045 PMID:22493483 RGD:1598707, RGD:38599005 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin treatment IEP
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar Annotator: match by term: Nephrotic range proteinuria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... RGD:1598707 NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 treatment ISO RGD PMID:15833166 RGD:7174719 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26878725 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
JBrowse link
G Pla2g7 phospholipase A2 group VII ISO
IEP
protein:increased activity:plasma RGD PMID:15292677 PMID:8692015 RGD:7248795, RGD:7257517 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plce1 phospholipase C, epsilon 1 onset ISO DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
RGD
PMID:17086182 RGD:7257519 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha IEP protein:decreased expression:kidney cortex (rat) RGD PMID:22874759 RGD:7242024 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:19194550 RGD:2317535 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:6420562 PMID:11095018 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta IAGP RGD PMID:15075188 RGD:1624161 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
G Serpinc1 serpin family C member 1 disease_progression IEP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:11304663 PMID:7532794 PMID:8979144 RGD:11035294, RGD:11038563 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Serpine1 serpin family E member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17513194 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Smad1 SMAD family member 1 IEP RGD PMID:17803470 RGD:1643224 NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
JBrowse link
G Soat2 sterol O-acyltransferase 2 IEP mRNA, protein:increased expression:liver RGD PMID:11967026 RGD:730139 NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9152291 PMID:9152291 RGD:11035285 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:31732614 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133
JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17178036 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:increased expression:plasma RGD PMID:22319062 RGD:11341665 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1281619 PMID:8023968 PMID:10515446 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B ISO protein:decreased expression:serum RGD PMID:22989431 RGD:7205481 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15924139 PMID:19129465 PMID:21734084 PMID:23645677 PMID:25741868 More... NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:18414213 PMID:20301500 PMID:21258341 PMID:24876116 PMID:25741868 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Vldlr very low density lipoprotein receptor IEP protein:decreased expression:heart, skeletal muscle (rat) RGD PMID:9186864 RGD:2324668 NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic range proteinuria
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
nephrotic syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:12384774 PMID:25741868 PMID:28492532 NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
JBrowse link
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More... NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar PMID:25741868 NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More... NCBI chr13:68,471,957...68,544,788 JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO RGD PMID:9892814 RGD:7248412 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Kirrel2 kirre like nephrin family adhesion molecule 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:15338398 PMID:18436095 PMID:19406966 PMID:20172850 PMID:25741868 More... NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin ISO DNA:mutations:multiple (human) RGD PMID:11317351 RGD:737766 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More... NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
JBrowse link
G Spink1 serine peptidase inhibitor, Kazal type 1 ISO ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar PMID:10691414 PMID:10835640 PMID:12011155 PMID:12187509 PMID:12483248 More... NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar PMID:18414213 PMID:20301500 PMID:21258341 PMID:24876116 PMID:25741868 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
nephrotic syndrome type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emp2 epithelial membrane protein 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 10 OMIM
ClinVar
PMID:24814193 PMID:25741868 NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733
JBrowse link
nephrotic syndrome type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 11
ClinVar Annotator: match by term: Nephrotic syndrome, type 11
ClinVar
OMIM
PMID:25741868 PMID:26411495 PMID:30179222 NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
JBrowse link
nephrotic syndrome type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 12
ClinVar Annotator: match by term: Nephrotic syndrome, type 12
ClinVar
OMIM
PMID:25741868 PMID:26878725 PMID:33532864 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
JBrowse link
nephrotic syndrome type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup205 nucleoporin 205 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 13
ClinVar Annotator: match by term: Nephrotic syndrome, type 13
ClinVar
OMIM
PMID:26878725 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
JBrowse link
nephrotic syndrome type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME 14
ClinVar Annotator: match by term: Nephrotic syndrome type 14
ClinVar
OMIM
PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More... NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
JBrowse link
nephrotic syndrome type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Magi2 membrane associated guanylate kinase, WW and PDZ domain containing 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME 15
ClinVar Annotator: match by term: Nephrotic syndrome type 15
ClinVar
OMIM
PMID:25741868 PMID:27932480 NCBI chr 4:14,388,322...15,870,036
Ensembl chr 4:14,386,399...15,870,240
JBrowse link
nephrotic syndrome type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME 16 ClinVar
OMIM
PMID:25961457 NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
JBrowse link
nephrotic syndrome type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17
ClinVar Annotator: match by term: Nephrotic syndrome, type 17
ClinVar PMID:25741868 PMID:30179222 NCBI chr10:100,825,426...100,844,462
Ensembl chr10:100,825,426...100,844,462
JBrowse link
G Nup85 nucleoporin 85 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17
ClinVar Annotator: match by term: Nephrotic syndrome, type 17
ClinVar
OMIM
PMID:25741868 PMID:30179222 NCBI chr10:100,806,482...100,825,029
Ensembl chr10:100,806,437...100,825,043
JBrowse link
nephrotic syndrome type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup133 nucleoporin 133 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 18
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 18
OMIM
ClinVar
PMID:25741868 PMID:30179222 NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
JBrowse link
nephrotic syndrome type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup160 nucleoporin 160 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 19
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 19
OMIM
ClinVar
PMID:25741868 PMID:30179222 NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565
JBrowse link
nephrotic syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO protein:increased expression:urine RGD PMID:17999093 RGD:7242031 NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
JBrowse link
G Avil advillin ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
JBrowse link
G Axdnd1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, 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 More... NCBI chr13:68,471,957...68,544,788 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:105,118,762...105,322,699
Ensembl chr  X:105,118,820...105,322,692
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25557779 PMID:27004616 PMID:28492532 PMID:32581362 NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
JBrowse link
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 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:1523708 PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 More... NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 ISO mRNA:alternative form:blood, mononuclear cell RGD PMID:20419394 RGD:7174729 NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
JBrowse link
G Nup205 nucleoporin 205 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
JBrowse link
G Nup93 nucleoporin 93 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
JBrowse link
G Pla2g7 phospholipase A2 group VII disease_progression ISO RGD PMID:9853251 RGD:7248793 NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:20591883 RGD:7257521 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
JBrowse link
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO DNA:missense mutations, SNPs:exon, intron:multiple RGD PMID:21511817 RGD:7247446 NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:29058690 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
G Xpo5 exportin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26878725 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
JBrowse link
nephrotic syndrome type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d8b TBC1 domain family member 8B ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 20
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 20
OMIM
ClinVar
PMID:25741868 PMID:30661770 PMID:31732614 NCBI chr  X:103,319,181...103,407,137
Ensembl chr  X:103,319,340...103,407,133
JBrowse link
nephrotic syndrome type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21
ClinVar Annotator: match by term: Nephrotic syndrome, type 21
ClinVar
OMIM
PMID:25741868 PMID:29058690 NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21 ClinVar PMID:29058690 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
JBrowse link
nephrotic syndrome type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos1ap nitric oxide synthase 1 adaptor protein ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 22 OMIM
ClinVar
PMID:33523862 NCBI chr13:82,549,786...82,820,949 JBrowse link
nephrotic syndrome type 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kirrel1 kirre like nephrin family adhesion molecule 1 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 23 OMIM
ClinVar
PMID:31472902 NCBI chr 2:172,521,644...172,615,057
Ensembl chr 2:172,525,245...172,615,299
JBrowse link
Nephrotic Syndrome Type 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daam2 dishevelled associated activator of morphogenesis 2 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 24 OMIM
ClinVar
PMID:33232676 NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497
JBrowse link
nephrotic syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Noc3l NOC3-like DNA replication regulator ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 PMID:24247120 More... NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar Annotator: match by OMIM:610725
OMIM
ClinVar
PMID:17086182 PMID:18975016 PMID:20507940 PMID:20591883 PMID:22865593 More... NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
JBrowse link
nephrotic syndrome type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 4 OMIM
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
nephrotic syndrome type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614199
OMIM
ClinVar
PMID:2206901 PMID:7885444 PMID:14136829 PMID:15367484 PMID:16097004 More... NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
JBrowse link
nephrotic syndrome type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpro protein tyrosine phosphatase, receptor type, O ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 6
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21722858 PMID:25741868 NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771
JBrowse link
nephrotic syndrome type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 7
ClinVar Annotator: match by OMIM:615008
OMIM
ClinVar
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25349199 PMID:25741868 More... NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
JBrowse link
nephrotic syndrome type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgdia Rho GDP dissociation inhibitor alpha ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 8
ClinVar Annotator: match by OMIM:615244
OMIM
ClinVar
PMID:23867502 PMID:25741868 PMID:25741905 NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
JBrowse link
nephrotic syndrome type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 9
ClinVar Annotator: match by OMIM:615573
OMIM
ClinVar
PMID:24270420 PMID:25741868 PMID:33532864 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar
PMID:24521109 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 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
RGD
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... RGD:11087560 NCBI chr  X:30,043,033...30,055,861
Ensembl chr  X:30,042,343...30,055,804
JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD
ClinVar
PMID:25417052 PMID:25741868 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2
ClinVar Annotator: match by OMIM:615399
OMIM
ClinVar
PMID:23733340 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
JBrowse link
Pierson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Pierson syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:609049
ClinVar
CTD
OMIM
RGD
PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More... RGD:7207425, RGD:7207425 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
JBrowse link
G Tns2 tensin 2 ISS OMIM:609049 MouseDO NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Pierson syndrome ClinVar PMID:15367484 PMID:20234391 PMID:28492532 NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
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 Annotator: match by term: Proteinuria, chronic benign
ClinVar
OMIM
PMID:15024727 PMID:16199547 PMID:22929189 PMID:24033266 PMID:25627829 More... NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
JBrowse link
Puromycin Aminonucleoside Nephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:3392211 RGD:12879820 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Acmsd aminocarboxymuconate semialdehyde decarboxylase IDA RGD PMID:16711654 RGD:13831123 NCBI chr13:39,200,486...39,244,337
Ensembl chr13:39,200,314...39,245,209
JBrowse link
G Actr2 actin related protein 2 IEP mRNA, protein:increased expression:cortex of kidney (rat) RGD PMID:19617259 RGD:11530057 NCBI chr14:94,296,443...94,333,735
Ensembl chr14:94,296,443...94,340,524
JBrowse link
G Agt angiotensinogen IEP RGD PMID:8446257 RGD:11039400 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Apoe apolipoprotein E IEP RGD PMID:8413767 RGD:11040583 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Baiap2 BAR/IMD domain containing adaptor protein 2 IEP protein:increased expression:glomerular visceral epithelial cell RGD PMID:17569780 RGD:9684990 NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134
JBrowse link
G Fas Fas cell surface death receptor IEP protein:increased expression:renal glomerulus, renal interstitium, renal tubule RGD PMID:16152783 RGD:1600352 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP mRNA:increased expression:renal glomerulus (rat) RGD PMID:9175058 RGD:4144855 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Nphs1 NPHS1 adhesion molecule, nephrin IEP mRNA, protein:altered expression:glomerulus (rat) RGD PMID:21876538 RGD:38599163 NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 IEP RGD PMID:20071462 RGD:9835041 NCBI chr11:68,708,070...68,766,622
Ensembl chr11:68,707,969...68,768,816
JBrowse link
G Ren renin IEP RGD PMID:8446257 RGD:11039400 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Xdh xanthine dehydrogenase treatment IEP RGD PMID:26121320 RGD:13208956 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
ClinVar Annotator: match by term: Schimke immunoosseous dysplasia
ClinVar Annotator: match by OMIM:242900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:9536098 PMID:11799392 PMID:15523612 PMID:15880370 PMID:16199547 More... RGD:1599053 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Signs and Symptoms 6531
        Urological Manifestations 589
          proteinuria 553
            Albuminuria 166
            Donnai-Barrow syndrome 2
            Imerslund-Grasbeck Syndrome + 4
            PROTEINURIA, CHRONIC BENIGN 1
            hemoglobinuria + 8
            nephrosis + 269
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        urinary system disease 2155
          kidney disease 1936
            proteinuria 553
              Albuminuria 166
              Donnai-Barrow syndrome 2
              Imerslund-Grasbeck Syndrome + 4
              PROTEINURIA, CHRONIC BENIGN 1
              hemoglobinuria + 8
              nephrosis + 269
paths to the root