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.
G
Ace
angiotensin I converting enzyme
severity treatment
ISO IMP
associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human) associated with Acute Kidney Injury
RGD
PMID:10193250 , PMID:10844603
RGD:11038828 , RGD:12879396
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Add2
adducin 2
ISO
RGD
PMID:19838659
RGD:7174725
NCBI chr 4:117,691,294...117,887,556
Ensembl chr 4:117,743,710...117,882,464
G
Ager
advanced glycosylation end product-specific receptor
susceptibility
ISO
associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human)
RGD
PMID:12606536
RGD:1566451
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:464098 PMID:2046802 PMID:9259580 PMID:12937228 PMID:17890855 PMID:25398788
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Agtr1a
angiotensin II receptor, type 1a
IMP ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
CTD
PMID:17021606 , PMID:20042458
RGD:6903284
NCBI chr17:35,907,102...35,958,136
Ensembl chr17:35,907,108...35,958,077
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Alb
albumin
ISO
associated with hypertension CTD Direct Evidence: marker/mechanism
CTD
PMID:839733 PMID:1011057 PMID:7288527 PMID:7297036 PMID:10916085 PMID:12217854 PMID:14514721 PMID:16326737 PMID:18176075 , PMID:8677191
RGD:1601158
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
G
Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12649539
NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
G
Apoe
apolipoprotein E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20842518
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
NCBI chr13:73,950,422...74,025,237
G
B2m
beta-2 microglobulin
ISO
protein:increased expression:urine
RGD
PMID:17634209
RGD:2311211
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
G
Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
PMID:7894492 PMID:8531967 PMID:8644703 PMID:8833256 PMID:8841191 PMID:9042909 PMID:9150153 PMID:10053113 PMID:10090881 PMID:10447273 PMID:10788334 PMID:11466700 PMID:12142080 PMID:15024741 PMID:15133502 PMID:15353005 PMID:15951956 PMID:15994883 PMID:16541315 PMID:17307836 PMID:18694767 PMID:18762988 PMID:18940477 PMID:19208665 PMID:20301425 PMID:20345474 PMID:20507347 PMID:20569256 PMID:21119707 PMID:21324516 PMID:21503673 PMID:22006311 PMID:22032251 PMID:22185575 PMID:22430266 PMID:23199084 PMID:23232912 PMID:23469205 PMID:23867111 PMID:24033266 PMID:24884479 PMID:25741868 PMID:26295337 PMID:26467025 PMID:26681312 PMID:26718727 PMID:27433846 PMID:28492532 PMID:29335925 PMID:29478780 PMID:29492181 PMID:30606148 PMID:31065452 PMID:32295079
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
G
C6
complement C6
IDA
associated with Glomerulonephritis
RGD
PMID:2672823
RGD:1600682
NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
G
Cd55
CD55 molecule (Cromer blood group)
IMP
RGD
PMID:12427125
RGD:2326179
NCBI chr13:47,125,156...47,153,557
Ensembl chr13:47,126,741...47,154,292
G
Cfh
complement factor H
IEP
protein:altered expression:kidney:
RGD
PMID:22815489
RGD:7364901
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
G
Clcn5
chloride voltage-gated channel 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15719255
NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
G
Clcnkb
chloride voltage-gated channel Kb
ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
PMID:25741868
NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
G
Clu
clusterin
treatment
IEP
RGD
PMID:18274700
RGD:9068435
NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
G
Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
PMID:25741868
NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
G
Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
PMID:9848783 PMID:11223851 PMID:17396119 PMID:19728970 PMID:19965530 PMID:20378821 PMID:21332469 PMID:24470729 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:28492532 PMID:28844315 PMID:29854973
NCBI chr X:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
G
Ctsb
cathepsin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3669494
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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Ctsl
cathepsin L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3669494
NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
G
Cxcl10
C-X-C motif chemokine ligand 10
IMP
RGD
PMID:16382022
RGD:2311386
NCBI chr14:17,210,733...17,212,930
Ensembl chr14:17,210,733...17,212,930
G
Cybb
cytochrome b-245 beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20116427
NCBI chr X:14,578,330...14,610,049
Ensembl chr X:14,578,264...14,612,547
G
Dnase1
deoxyribonuclease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22479529
NCBI chr10:11,757,681...11,760,672
Ensembl chr10:11,757,682...11,760,620
G
Dpp4
dipeptidylpeptidase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2880436
NCBI chr 3:48,291,055...48,372,672
Ensembl chr 3:48,291,055...48,372,672
G
F7
coagulation factor VII
ISO
associated with Diabetes Mellitus; protein:increased activity:plasma (human)
RGD
PMID:509177
RGD:2312414
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
G
Fas
Fas cell surface death receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26590112
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
G
Gusb
glucuronidase, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2880436
NCBI chr12:30,202,066...30,215,583
Ensembl chr12:30,198,822...30,227,771
G
Havcr1
hepatitis A virus cellular receptor 1
IEP ISO
mRNA,protein:increased expression:kidney,urine CTD Direct Evidence: marker/mechanism
CTD
PMID:19225054 , PMID:16467126
RGD:7245980
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
G
Icam1
intercellular adhesion molecule 1
IEP
associated with Hypertension;mRNA, protein:increased expression:kidney
RGD
PMID:22681549
RGD:8547734
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3091246 PMID:8289579
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
G
Il1rn
interleukin 1 receptor antagonist
ISO
associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) CTD Direct Evidence: therapeutic
CTD
PMID:9370186 , PMID:12138282
RGD:6909118
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
G
Il6
interleukin 6
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human)
RGD
PMID:19377212
RGD:2307194
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Inf2
inverted formin 2
ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
PMID:20023659 PMID:20803156 PMID:21258034 PMID:23515051 PMID:25165188 PMID:25407002 PMID:25741868 PMID:26467025 PMID:27350175
NCBI chr 6:137,162,593...137,180,198
Ensembl chr 6:137,164,535...137,177,622
G
Lamb2
laminin subunit beta 2
IMP
RGD
PMID:21511833
RGD:7207433
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
G
Lep
leptin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25205467
NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
G
Lepr
leptin receptor
sexual_dimorphism
IAGP IMP
compared to BN compared to SS/JrHsdMcwi
RGD
PMID:20159938 , PMID:27465994
RGD:7365117 , RGD:12911217
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
G
Leprem2Mcwi
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
compared to SS/JrHsdMcwi
RGD
PMID:27465994
RGD:12911217
G
Leprfa
leptin receptor; fa mutant
sexual_dimorphism
IAGP
compared to BN
RGD
PMID:20159938
RGD:7365117
G
Lmx1b
LIM homeobox transcription factor 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19147669 PMID:20199424
NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
G
LOC304754
similar to Proteasome activator complex subunit 2 (Proteasome activator 28-beta subunit) (PA28beta) (PA28b) (Activator of multicatalytic protease subunit 2) (11S regulator complex beta subunit) (REG-beta)
IAGP
RGD
PMID:21257920
RGD:12798539
NCBI chr13:43,079,512...43,080,402
G
Mgat5
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase
IAGP
RGD
PMID:21257920
RGD:12798539
NCBI chr13:43,850,744...44,157,860
Ensembl chr13:43,850,751...44,157,924
G
Mpv17
mitochondrial inner membrane protein MPV17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18818194
NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
G
Muc16
mucin 16, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12169874
NCBI chr 8:18,438,838...18,639,777
G
Myh9
myosin, heavy chain 9
disease_progression
ISO
associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human) associated with anemia, sickle cell:DNA:SNPs: :
RGD
PMID:20200500 , PMID:21910715
RGD:6903242 , RGD:6903258
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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Ncf2
neutrophil cytosolic factor 2
IMP
RGD
PMID:22326221
RGD:9587793
NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
G
Ncf2em1Mcwi
neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:22326221
RGD:9587793
G
Nck1
NCK adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779
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Nck2
NCK adaptor protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284
G
Nckap5
NCK-associated protein 5
IAGP
RGD
PMID:21257920
RGD:12798539
NCBI chr13:42,265,875...43,049,232
Ensembl chr13:42,265,806...42,885,440
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Nphs1
NPHS1 adhesion molecule, nephrin
ISO
RGD
PMID:12039968
RGD:737765
NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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Nphs2
NPHS2 stomatin family member, podocin
IDA ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
PMID:11805166 PMID:11854170 PMID:12464671 PMID:14675423 PMID:14871423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:15338398 PMID:15504144 PMID:15627790 PMID:15954915 PMID:15968559 PMID:16481888 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17216259 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18392643 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18726620 PMID:18823551 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19520069 PMID:19812541 PMID:20025681 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23645318 PMID:23800802 PMID:24227627 PMID:24509478 PMID:24519673 PMID:24715228 PMID:24856380 PMID:24969201 PMID:25599733 PMID:25741868 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:27766458 PMID:28529802 PMID:30241959 PMID:30260545 PMID:31027891 PMID:31738409 PMID:32129207 , PMID:15882266
RGD:1598706
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
G
Nppb
natriuretic peptide B
IMP
RGD
PMID:26063669
RGD:12910116
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Nr4a1
nuclear receptor subfamily 4, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24722447
NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
G
Optn
optineurin
IEP
associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat)
RGD
PMID:25096716
RGD:13434904
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
G
Pak1
p21 (RAC1) activated kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20071462
NCBI chr 1:162,768,156...162,883,356
Ensembl chr 1:162,768,156...162,883,355
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Pak2
p21 (RAC1) activated kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20071462
NCBI chr11:72,829,407...72,865,815
Ensembl chr11:72,829,238...72,865,902
G
Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
PMID:25741868
NCBI chr10:13,914,057...13,962,008
Ensembl chr10:13,915,214...13,962,008
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Pla2g7
phospholipase A2 group VII
ISO
DNA:mutation: :994G>T(human)
RGD
PMID:10430976
RGD:7248792
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4368615
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Pon1
paraoxonase 1
ISO
associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human)
RGD
PMID:9591753
RGD:8547663
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Ppara
peroxisome proliferator activated receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16054168
NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19643929
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Rab38
RAB38, member RAS oncogene family
IAGP
RGD
PMID:15758045
RGD:1357409
NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:464098 PMID:2046802
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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RGD1560333
similar to Ferritin light chain (Ferritin L subunit)
IAGP
RGD
PMID:21257920
RGD:12798539
NCBI chr13:43,384,999...43,385,544
G
RGD1563709
similar to K-ALPHA-1 protein
IAGP
RGD
PMID:21257920
RGD:12798539
NCBI chr13:43,401,273...43,402,677
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Rhoa
ras homolog family member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19955829
NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
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RT1-Ba
RT1 class II, locus Ba
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11436868
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6420562 PMID:11436868
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11752024
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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Sdc1
syndecan 1
IEP
mRNA, protein:increased expression:glomerulus
RGD
PMID:16622173
RGD:1643128
NCBI chr 6:33,885,576...33,908,038
Ensembl chr 6:33,885,495...33,908,016
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Serpina1
serpin family A member 1
IEP
protein:increased expression:urine
RGD
PMID:11239198
RGD:1625796
NCBI chr 6:127,610,241...127,632,265
Ensembl chr 6:127,610,243...127,632,265
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Slc9a1
solute carrier family 9 member A1
IMP
RGD
PMID:31250553
RGD:14985213
NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
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Snrpd1
small nuclear ribonucleoprotein D1 polypeptide
IDA
associated with Lupus Erythematosus, Systemic in a mouse model
RGD
PMID:16418806
RGD:10755721
NCBI chr18:1,866,066...1,876,613
Ensembl chr18:1,866,080...1,876,613
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2273594
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sorcs1
sortilin-related VPS10 domain containing receptor 1
IMP
associated with hypertension
RGD
PMID:23780848
RGD:12910977
NCBI chr 1:269,965,824...270,473,097
Ensembl chr 1:269,973,351...270,472,866
G
Sorcs1em1Mcwi
sortilin-related VPS10 domain containing receptor 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
associated with hypertension
RGD
PMID:23780848
RGD:12910977
G
Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11972865
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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Tgfb1
transforming growth factor, beta 1
ISO IMP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12937228 , PMID:23249995
RGD:13446413
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Tgfb1em3Mcwi
transforming growth factor, beta 1; zinc finger nuclease induced mutant 3, Medical College of Wisconsin
IMP
RGD
PMID:23249995
RGD:13446413
G
Tlr9
toll-like receptor 9
ISO
associated with Lupus Erythematosus, Systemic associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human)
RGD
PMID:23467932 , PMID:22787315
RGD:7245987 , RGD:7245989
NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
G
Tmem163
transmembrane protein 163
IAGP
RGD
PMID:21257920
RGD:12798539
NCBI chr13:44,166,306...44,345,735
Ensembl chr13:44,166,306...44,345,735
G
Tmem67
transmembrane protein 67
IAGP
compared to RGD:14995941
RGD
PMID:11095650
RGD:1300514
NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
G
Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
compared to RGD:14995941
RGD
PMID:11095650
RGD:1300514
G
Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
RGD
PMID:23385000
RGD:7247440
NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22808199
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Vtn
vitronectin
IMP
associated with Mesangial Proliferative Glomerulonephritis
RGD
PMID:9621282
RGD:10003089
NCBI chr10:65,767,960...65,771,040
Ensembl chr10:65,767,053...65,771,038
G
Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Proteinuria
ClinVar
PMID:28492532
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
G
Ace
angiotensin I converting enzyme
treatment
ISO IMP
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human) associated with Diabetic Nephropathies CTD Direct Evidence: marker/mechanism
CTD
PMID:23733546 , PMID:1336356 , PMID:16902320
RGD:7829770 , RGD:12879427
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Adm
adrenomedullin
ISO
associated with Hypertension
RGD
PMID:19424162
RGD:2313311
NCBI chr 1:175,443,189...175,447,260
Ensembl chr 1:175,445,088...175,447,259
G
Ager
advanced glycosylation end product-specific receptor
treatment
ISO IDA
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) associated with Diabetes Mellitus, Experimental associated with Diabetic Nephropathies
RGD
PMID:21607631 , PMID:21796806 , PMID:20627935
RGD:7243944 , RGD:7244184 , RGD:7244135
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
G
Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12414515 PMID:18679781 PMID:21896938 , PMID:15118671
RGD:1331525
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Akr1b1
aldo-keto reductase family 1 member B
ISO
associated with Diabetes Mellitus, Experimental;human gene in a rat model
RGD
PMID:12166624
RGD:8548813
NCBI chr 4:61,706,866...61,720,959
Ensembl chr 4:61,706,864...61,720,956
G
Alb
albumin
ISO IEP
associated with Diabetes Mellitus, Insulin-Dependent associated with hypertension
RGD
PMID:19414946 , PMID:15102963
RGD:2306884 , RGD:1601157
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
G
Alox12
arachidonate 12-lipoxygenase, 12S type
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human)
RGD
PMID:18640486
RGD:2313875
NCBI chr10:56,851,734...56,864,049
Ensembl chr10:56,851,734...56,864,005
G
B2m
beta-2 microglobulin
ISO
associated with HIV infections;protein:increased expression:urine
RGD
PMID:18469311
RGD:6482713
NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
G
Casp1
caspase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22647887
NCBI chr 8:2,605,743...2,614,637
Ensembl chr 8:2,604,962...2,614,631
G
Casr
calcium-sensing receptor
IDA
associated with Uremia
RGD
PMID:19188910
RGD:7205661
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
G
Ccl4
C-C motif chemokine ligand 4
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine
RGD
PMID:21113841
RGD:5683918
NCBI chr10:70,870,926...70,886,357
Ensembl chr10:70,884,531...70,886,355
G
Cd38
CD38 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21992601
NCBI chr14:71,714,768...71,754,990
Ensembl chr14:71,715,269...71,754,672
G
Ciita
class II, major histocompatibility complex, transactivator
ISO
DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human)
RGD
PMID:17183695
RGD:5491201
NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
G
Cp
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21752484
NCBI chr 2:104,744,249...104,803,034
Ensembl chr 2:104,744,461...104,799,853
G
Crp
C-reactive protein
severity
ISO
associated with Anemia, Sickle Cell; protein:increased expression:serum associated with hypertension
RGD
PMID:20710104 , PMID:20016210
RGD:6907441 , RGD:6909147
NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
G
Csf1
colony stimulating factor 1
treatment
IDA
associated with Hypercholesterolemia and Diabetes Mellitus, Experimental
RGD
PMID:8573750
RGD:7257591
NCBI chr 2:210,522,370...210,550,546
Ensembl chr 2:210,522,375...210,550,560
G
Cst3
cystatin C
ISO
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)
RGD
PMID:19596469
RGD:2314309
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
G
Ctsb
cathepsin B
IDA
associated with Hypertension
RGD
PMID:19023196
RGD:2315726
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
G
Ctsl
cathepsin L
IDA
associated with Hypertension
RGD
PMID:19023196
RGD:2315726
NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
G
Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IMP
RGD
PMID:15939810
RGD:2307307
NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
G
Drd1
dopamine receptor D1
ISO
DNA:polymorphism:5' utr:g.-94G>A rs5326 (human)
RGD
PMID:17353515
RGD:7248452
NCBI chr17:11,099,736...11,104,352
Ensembl chr17:11,101,306...11,103,541
G
Edn1
endothelin 1
IEP
protein:increased expression:renal papilla (rat)
RGD
PMID:20666571
RGD:4144838
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Epo
erythropoietin
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum
RGD
PMID:16921186
RGD:2313841
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
G
F7
coagulation factor VII
no_association severity
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)
RGD
PMID:8458188 , PMID:8250495 , PMID:9187410
RGD:2312410 , RGD:2312407 , RGD:2312406
NCBI chr16:81,824,610...81,834,923
Ensembl chr16:81,824,111...81,834,945
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Fbn1
fibrillin 1
ISO
associated with Hypertension
RGD
PMID:16380460
RGD:7365080
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
G
Ggt1
gamma-glutamyltransferase 1
ISO
associated with Diabetes Mellitus; protein:increased activity:serum
RGD
PMID:15890893
RGD:2315606
NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
G
Gnaq
G protein subunit alpha q
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16267159
NCBI chr 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
G
Gpc5
glypican 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21441931
NCBI chr15:100,283,131...101,776,838
G
Havcr1
hepatitis A virus cellular receptor 1
ISO
associated with Anemia, Sickle Cell;protein:increased expression:urine:
RGD
PMID:21630304
RGD:7245982
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
G
Igf1
insulin-like growth factor 1
susceptibility
ISO
RGD
PMID:16645019
RGD:1598420
NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
G
Il1b
interleukin 1 beta
ISO
RGD
PMID:23103566
RGD:7175089
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17167242
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
G
Ins2
insulin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9861226 PMID:29420703
NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
G
Lepr
leptin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17065336 PMID:20175764 PMID:23159718 PMID:28130181 PMID:29988851
NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
G
Lipc
lipase C, hepatic type
ISO
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)
RGD
PMID:8666151
RGD:2308836
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
G
Lrp2
LDL receptor related protein 2
IDA
RGD
PMID:12121845
RGD:1641839
NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
G
Mir130a
microRNA 130a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr 3:72,141,037...72,141,124
Ensembl chr 3:72,141,037...72,141,124
G
Mir145
microRNA 145
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr18:56,969,907...56,969,994
Ensembl chr18:56,969,907...56,969,994
G
Mir155
microRNA 155
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
G
Mir322
microRNA 322
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24223694
NCBI chr X:158,148,161...158,148,255
Ensembl chr X:158,148,161...158,148,255
G
Mmp9
matrix metallopeptidase 9
onset
ISO
associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human)
RGD
PMID:9774113
RGD:7207214
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
RGD
PMID:22554825
RGD:6893631
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
G
Myh9
myosin, heavy chain 9
ISO
associated with hypertension;DNA:SNPs: :
RGD
PMID:19153477
RGD:6903241
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
G
Nck1
NCK adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779
G
Nck2
NCK adaptor protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284
G
Nphs2
NPHS2 stomatin family member, podocin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15684566
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
G
Nr4a1
nuclear receptor subfamily 4, group A, member 1
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
NCBI chr 7:142,899,358...142,920,216
Ensembl chr 7:142,905,758...142,920,216
G
Nr4a1m1Mcwi
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin
IMP
compared to FHH
RGD
PMID:24722447
RGD:12910103
G
Pdpn
podoplanin
IEP
RGD
PMID:18199599
RGD:2292240
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
G
Pon1
paraoxonase 1
ISO
DNA:polymorphisms:promoter, cds (human)
RGD
PMID:16949520
RGD:2313272
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
G
Ppargc1a
PPARG coactivator 1 alpha
ISO
associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human)
RGD
PMID:22684233
RGD:7242025
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17890881
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Pth
parathyroid hormone
ISO
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
RGD
PMID:23066118
RGD:7242730
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
G
Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22647887
NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
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Rab38
RAB38, member RAS oncogene family
IAGP
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi
RGD
PMID:15758045 , PMID:23291471
RGD:1357409 , RGD:13782139
NCBI chr 1:152,072,716...152,153,449
Ensembl chr 1:152,072,665...152,153,449
G
Rab38em1Mcwi
RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IAGP
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi
RGD
PMID:23291471
RGD:13782139
G
Rag1
recombination activating 1
IMP
RGD
PMID:23364523
RGD:7207429
NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
G
Rag1em1Mcwi
recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
as compare to o.4% NaCl diet
RGD
PMID:23364523
RGD:7207429
G
Rag1em2Mcwi
recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin
IMP
RGD
PMID:23364523
RGD:7207429
G
Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12414515 PMID:18679781
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
G
Retn
resistin
ISO
associated with Hypertension;protein:increased expression:blood
RGD
PMID:20203628
RGD:7207150
NCBI chr12:2,201,909...2,203,649
Ensembl chr12:2,201,891...2,204,249
G
Serpine1
serpin family E member 1
ISO
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
RGD
PMID:9201602
RGD:8547710
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
G
Serpinf1
serpin family F member 1
treatment
ISO
associated with Diabetes Mellitus, Experimental; human gene in a rat model
RGD
PMID:16731830
RGD:8554875
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
G
Sh2b3
SH2B adaptor protein 3
IMP
RGD
PMID:25776069
RGD:13442483
NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
G
Sh2b3em1Mcwi
SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin
IMP
RGD
PMID:25776069
RGD:13442483
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17942768
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
G
Spp1
secreted phosphoprotein 1
IEP
RGD
PMID:18443355
RGD:6903862
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
G
Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17167242
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
G
Trpc3
transient receptor potential cation channel, subfamily C, member 3
IEP
associated with Hypertension;mRNA, protein:increased expression:kidney cortex
RGD
PMID:19887786
RGD:7247603
NCBI chr 2:123,329,954...123,467,574
Ensembl chr 2:123,329,875...123,407,496
G
Trpc5
transient receptor potential cation channel, subfamily C, member 5
ISO
RGD
PMID:24231357
RGD:10043830
NCBI chr X:115,624,670...115,908,248
Ensembl chr X:115,627,653...115,908,693
G
Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO IEP
associated with Hypertension;mRNA:decreased expression:kidney cortex
RGD
PMID:21839714 , PMID:19887786
RGD:7247445 , RGD:7247603
NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
G
Tslp
thymic stromal lymphopoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17686814
NCBI chr18:25,613,601...25,618,066
Ensembl chr18:25,613,831...25,617,361
G
Vcam1
vascular cell adhesion molecule 1
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma
RGD
PMID:18299691
RGD:2312766
NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
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Cd59
CD59 molecule
ISO
ClinVar Annotator: match by term: Cd59 deficiency ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:612300
OMIM ClinVar
PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868
NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
G
Mmp1
matrix metallopeptidase 1
ISO
protein:decreased activity:kidney (mouse)
RGD
PMID:11014984
RGD:7207147
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
G
Ctns
cystinosin, lysosomal cystine transporter
ISO
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE ClinVar Annotator: match by OMIM:219900
OMIM ClinVar
PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12825071 PMID:15128704 PMID:15365816 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:21546516 PMID:21786142 PMID:22450360 PMID:22664570 PMID:23640116 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26565940 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28276207 PMID:28405942 PMID:28492532 PMID:28649545 PMID:28893421 PMID:29467429 PMID:30949462
NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
G
Shpk
sedoheptulokinase
ISO
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar
PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949
NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
G
Trpv1
transient receptor potential cation channel, subfamily V, member 1
ISO
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
ClinVar
PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:27734949
NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
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Lamb2
laminin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15367484
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:18065803
RGD:7257520
NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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Lmbrd1
LMBR1 domain containing 1
ISO
ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar
PMID:19136951 PMID:25741868 PMID:28492532
NCBI chr 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
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Lrp2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar Annotator: match by OMIM:222448
OMIM ClinVar
PMID:8266995 PMID:9475100 PMID:12923867 PMID:17632512 PMID:18414213 PMID:20359920 PMID:23033978 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25741868 PMID:26118977 PMID:26529358 PMID:28492532 PMID:32238909
NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
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Alg1
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ISO
ClinVar Annotator: match by term: Nephrosis, congenital
ClinVar
PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332
NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: Congenital nephrotic syndrome
ClinVar
PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28492532
NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Hereditary nephrotic syndrome
ClinVar
PMID:11805166 PMID:14978175 PMID:16721582 PMID:24033266
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Hereditary nephrotic syndrome
ClinVar
PMID:1302008 PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:10762296 PMID:12050205 PMID:19484379 PMID:20442690 PMID:23295293 PMID:23515051 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25741868 PMID:25818337 PMID:27719739 PMID:28204945 PMID:28492532 PMID:29668062 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Lage3
L antigen family, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr X:156,355,376...156,356,799
Ensembl chr X:156,355,376...156,356,799
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Osgep
O-sialoglycoprotein endopeptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
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Tp53rk
TP53 regulating kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
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Tprkb
Tp53rk binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941 Ensembl chr 4:117,780,533...117,785,941
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Wdr4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:30079490
NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
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Wdr73
WD repeat domain 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25466283
NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
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Zfp592
zinc finger protein 592
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20531441
NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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Wdr73
WD repeat domain 73
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
OMIM ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:30315938
NCBI chr 1:142,711,955...142,720,292
Ensembl chr 1:142,711,789...142,720,257
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Zfp592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 5
ClinVar
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727
NCBI chr 1:142,833,999...142,870,997
Ensembl chr 1:142,834,157...142,870,995
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Lage3
L antigen family, member 3
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
ClinVar OMIM
PMID:12693786 PMID:28805828
NCBI chr X:156,355,376...156,356,799
Ensembl chr X:156,355,376...156,356,799
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Osgep
O-sialoglycoprotein endopeptidase
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3
ClinVar OMIM
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28805828
NCBI chr15:27,842,447...27,849,866
Ensembl chr15:27,842,422...27,849,974
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Tp53rk
TP53 regulating kinase
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 4
ClinVar OMIM
PMID:28805828
NCBI chr 3:163,552,166...163,555,925
Ensembl chr 3:163,552,166...163,555,596
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Tprkb
Tp53rk binding protein
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 5
ClinVar OMIM
PMID:28805828
NCBI chr 4:117,589,527...117,604,481
Ensembl chr 4:117,780,533...117,785,941 Ensembl chr 4:117,780,533...117,785,941
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Wdr4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 6
OMIM ClinVar
PMID:25741868 PMID:26416026 PMID:28617965 PMID:29597095 PMID:30079490
NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 7
OMIM ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:30179222
NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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Nup133
nucleoporin 133
ISO
ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 8
OMIM ClinVar
PMID:11793129 PMID:30427554
NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
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Acbd7
acyl-CoA binding domain containing 7
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,904,549...78,913,372
Ensembl chr17:78,904,873...78,910,671
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Akr1c1
aldo-keto reductase family 1, member C1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
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Akr1c2
aldo-keto reductase family 1, member C2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
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Akr1c3
aldo-keto reductase family 1, member C3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,761,126...69,778,021
Ensembl chr17:69,761,118...69,778,021
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Akr1e2
aldo-keto reductase family 1, member E2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,365,437...69,379,944
Ensembl chr17:69,365,453...69,379,947
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Ankrd16
ankyrin repeat domain 16
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,384,883...70,398,089
Ensembl chr17:70,386,707...70,398,769
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Arl5b
ADP-ribosylation factor like GTPase 5B
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:82,065,893...82,092,693
Ensembl chr17:82,065,937...82,091,362
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Asb13
ankyrin repeat and SOCS box-containing 13
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,215,401...70,234,103
Ensembl chr17:70,215,401...70,234,103
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Atp5f1c
ATP synthase F1 subunit gamma
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:72,209,321...72,231,562
Ensembl chr17:72,209,373...72,394,271
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Bend7
BEN domain containing 7
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,448,430...77,527,888
Ensembl chr17:77,448,430...77,527,894
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C1ql3
complement C1q like 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,314,186...80,320,681
Ensembl chr17:80,314,186...80,320,681
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Cacnb2
calcium voltage-gated channel auxiliary subunit beta 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:81,673,862...82,019,219
Ensembl chr17:81,798,756...82,017,682
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Calml3
calmodulin-like 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,070,458...70,073,697
Ensembl chr17:70,072,156...70,073,530
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Calml5
calmodulin-like 5
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,044,956...70,045,886
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Camk1d
calcium/calmodulin-dependent protein kinase ID
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,532,611...76,938,956
Ensembl chr17:76,532,611...76,938,956
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Ccdc3
coiled-coil domain containing 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,991,722...77,093,515
Ensembl chr17:76,995,043...77,093,308
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Cdc123
cell division cycle 123
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,410,629...76,454,275
Ensembl chr17:76,410,585...76,454,282
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Cdnf
cerebral dopamine neurotrophic factor
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,721,230...78,735,324
Ensembl chr17:78,719,111...78,735,324
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Celf2
CUGBP, Elav-like family member 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:75,259,269...75,660,154
Ensembl chr17:75,352,389...75,654,951
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
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Dclre1c
DNA cross-link repair 1C
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,782,512...78,812,140
Ensembl chr17:78,783,437...78,812,111
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Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,306,585...76,358,058
Ensembl chr17:76,306,585...76,358,058
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Echdc3
enoyl CoA hydratase domain containing 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,002,304...76,022,813
Ensembl chr17:76,002,275...76,022,813
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Fam107b
family with sequence similarity 107, member B
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,489,667...78,689,933
Ensembl chr17:78,489,668...78,561,613
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Fam171a1
family with sequence similarity 171, member A1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:79,030,150...79,149,480
Ensembl chr17:79,031,423...79,085,076
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Fbh1
F-box DNA helicase 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,399,093...70,437,151
Ensembl chr17:70,399,049...70,437,144
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Frmd4a
FERM domain containing 4A
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,642,302...77,918,210
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Gata3
GATA binding protein 3
ISO
ClinVar Annotator: match by term: Hypoparathyroidism-deafness-renal disease syndrome ClinVar Annotator: match by term: Barakat syndrome ClinVar Annotator: match by OMIM:146255 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null
OMIM ClinVar CTD
PMID:10935639 PMID:11389161 PMID:15705923 PMID:16912130 PMID:17309062 PMID:18621058 PMID:19248180 PMID:19253381 PMID:20006695 PMID:21834031 PMID:23142663 PMID:23435732 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30143558
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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Gdi2
GDP dissociation inhibitor 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,299,177...70,325,864
Ensembl chr17:70,299,183...70,325,855
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Hacd1
3-hydroxyacyl-CoA dehydratase 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:81,173,238...81,196,012
Ensembl chr17:81,173,713...81,187,739
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Il15ra
interleukin 15 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,451,861...70,481,838
Ensembl chr17:70,451,411...70,481,750
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Il2ra
interleukin 2 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,500,672...70,547,929
Ensembl chr17:70,499,083...70,548,071
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Itga8
integrin subunit alpha 8
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:79,321,893...79,676,927
Ensembl chr17:79,321,900...79,676,499
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Itih2
inter-alpha-trypsin inhibitor heavy chain 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:72,160,734...72,197,248
Ensembl chr17:72,160,735...72,195,509
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Kin
Kin17 DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:72,198,882...72,216,780
Ensembl chr17:72,198,866...72,209,279
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Mcm10
minichromosome maintenance 10 replication initiation factor
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,224,218...77,245,486
Ensembl chr17:77,224,112...77,246,478
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Meig1
meiosis/spermiogenesis associated 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,813,656...78,829,411
Ensembl chr17:78,817,529...78,829,411
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Mindy3
MINDY lysine 48 deubiquitinase 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:79,720,534...79,798,470
Ensembl chr17:79,720,535...79,798,435
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Net1
neuroepithelial cell transforming 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,991,786...70,020,977
Ensembl chr17:70,010,794...70,020,982
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Nmt2
N-myristoyltransferase 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,919,235...78,966,013
Ensembl chr17:78,921,793...78,962,476
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Nsun6
NOP2/Sun RNA methyltransferase 6
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:82,020,316...82,060,533
Ensembl chr17:82,022,490...82,060,123
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Nudt5
nudix hydrolase 5
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,387,027...76,410,309
Ensembl chr17:76,387,031...76,410,294
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Olah
oleoyl-ACP hydrolase
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,878,673...78,903,919
Ensembl chr17:78,879,058...78,903,967
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Optn
optineurin
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
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Pfkfb3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,632,778...70,713,736
Ensembl chr17:70,684,134...70,713,726
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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Prkcq
protein kinase C, theta
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,971,915...71,105,286
Ensembl chr17:70,971,915...71,105,286
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Proser2
proline and serine rich 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,079,641...76,140,428
Ensembl chr17:76,079,720...76,137,697
G
Prpf18
pre-mRNA processing factor 18
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,601,914...77,632,507
Ensembl chr17:77,601,877...77,663,980
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Pter
phosphotriesterase related
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,250,444...80,311,987
Ensembl chr17:80,250,521...80,311,981
G
Rbm17
RNA binding motif protein 17
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,586,345...70,603,289
Ensembl chr17:70,586,394...70,603,267
G
Rpp38
ribonuclease P/MRP subunit p38
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,915,450...78,919,144
Ensembl chr17:78,915,604...78,919,143
G
Rsu1
Ras suppressor protein 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,388,477...80,577,338
Ensembl chr17:80,389,157...80,577,027
G
Sec61a2
SEC61 translocon subunit alpha 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,358,947...76,385,860
Ensembl chr17:76,358,944...76,385,103
G
Sephs1
selenophosphate synthetase 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,312,562...77,340,934
Ensembl chr17:77,312,562...77,340,934
G
Sfmbt2
Scm-like with four mbt domains 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:71,719,012...71,904,303
Ensembl chr17:71,723,620...71,897,972
G
Slc39a12
solute carrier family 39 member 12
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:81,455,731...81,541,742
Ensembl chr17:81,455,955...81,541,759
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St8sia6
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,960,785...81,002,830
Ensembl chr17:80,960,785...81,002,838
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Stam
signal transducing adaptor molecule
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:81,209,795...81,256,111
Ensembl chr17:81,209,867...81,255,808
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Suv39h2
suppressor of variegation 3-9 homolog 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:78,762,897...78,782,016
Ensembl chr17:78,762,991...78,782,016
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Taf3
TATA-box binding protein associated factor 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:72,240,785...72,393,448
Ensembl chr17:72,209,373...72,394,271
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Tasor2
transcription activation suppressor family member 2
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:70,245,672...70,299,056
Ensembl chr17:70,262,363...70,297,751
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Trdmt1
tRNA aspartic acid methyltransferase 1
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,824,652...80,859,585
Ensembl chr17:80,826,846...80,860,195
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Tubal3
tubulin, alpha-like 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,974,272...69,982,957
Ensembl chr17:69,974,272...69,982,957
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Ucma
upper zone of growth plate and cartilage matrix associated
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:77,252,099...77,262,301
Ensembl chr17:77,252,100...77,261,731
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Ucn3
urocortin 3
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:69,959,879...69,966,532
Ensembl chr17:69,960,160...69,966,099
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Upf2
UPF2, regulator of nonsense mediated mRNA decay
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:76,176,379...76,287,246
Ensembl chr17:76,175,643...76,287,186
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Usp6nl
USP6 N-terminal like
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:75,759,428...75,887,108
Ensembl chr17:75,761,469...75,886,523
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Vim
vimentin
ISO
ClinVar Annotator: match by term: Barakat syndrome
ClinVar
PMID:25741868
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:28492532
NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795
NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
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Traf3
Tnf receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome
ClinVar
PMID:28492532
NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
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Amn
amnion associated transmembrane protein
ISO
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:28492532
NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
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Cblif
cobalamin binding intrinsic factor
ISO
DNA:polymorphisms, missense mutations, splice sites:exon,intron: protein:increased excretion:urine:
RGD
PMID:15738392 , PMID:10435666
RGD:11049583 , RGD:11049586
NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
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Cubn
cubilin
ISO
DNA:missense mutation:cds:p.P1297L (human) ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
ClinVar OMIM
PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25349199 PMID:25525159 PMID:25741868 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795 , PMID:10080186
RGD:61796
NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
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Traf3
Tnf receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of
ClinVar
PMID:28492532
NCBI chr 6:135,610,698...135,720,247
Ensembl chr 6:135,610,743...135,718,564
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Amn
amnion associated transmembrane protein
ISO
DNA:mutation:splice site: ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 2
ClinVar OMIM
PMID:6741523 PMID:12590260 PMID:13852753 PMID:15024727 PMID:17114957 PMID:17285242 PMID:22078000 PMID:24156255 PMID:26040326 , PMID:17114957
RGD:11071839
NCBI chr 6:135,724,455...135,731,896
Ensembl chr 6:135,724,455...135,731,896
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Itga3
integrin subunit alpha 3
ISO
ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital ClinVar Annotator: match by OMIM:614748
OMIM ClinVar
PMID:22512483 PMID:24088041 PMID:25810266 PMID:26633545
NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
treatment
IEP
RGD
PMID:24119646
RGD:10043363
NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
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Il13
interleukin 13
IMP
RGD
PMID:17429054
RGD:2290347
NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
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Il17a
interleukin 17A
IEP
Protein:increased expression:plasma (rat)
RGD
PMID:22772331
RGD:9068937
NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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Lgals1
galectin 1
IEP
protein:decreased expression:glomerulus, podocytes (rat)
RGD
PMID:19079321
RGD:2316526
NCBI chr 7:120,153,184...120,156,290
Ensembl chr 7:120,153,184...120,156,289
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Lmx1b
LIM homeobox transcription factor 1 beta
ISO
ClinVar Annotator: match by term: Minimal change glomerulonephritis
ClinVar
PMID:23687361 PMID:32581362
NCBI chr 3:12,608,748...12,686,937
Ensembl chr 3:12,609,574...12,686,869
G
Nr3c1
nuclear receptor subfamily 3, group C, member 1
disease_progression
ISO
RGD
PMID:17890747
RGD:7174718
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Stat6
signal transducer and activator of transcription 6
severity no_association
ISO
DNA:polymorphism:3' utr:g.2964G>A (human) DNA:polymorphism:3' utr:2964G>A (human) DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)
RGD
PMID:12900808 , PMID:15687724 , PMID:19011907
RGD:7244138 , RGD:7244146 , RGD:7244144
NCBI chr 7:70,946,228...70,963,542
Ensembl chr 7:70,946,228...70,964,484
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Ace
angiotensin I converting enzyme
treatment
IEP IMP
protein:increased activity:multiple (rats) Adriamycin Nephrosis
RGD
PMID:8303709 , PMID:8665777
RGD:8157608 , RGD:12879388
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Agt
angiotensinogen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2046802
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3301049
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
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Angpt1
angiopoietin 1
IEP
mRNA, protein:decreased expression:glomerulus
RGD
PMID:16626513
RGD:1626164
NCBI chr 7:81,338,327...81,592,459
Ensembl chr 7:81,342,280...81,592,206
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Angpt2
angiopoietin 2
IDA IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:18929866 , PMID:18929864
RGD:2314177 , RGD:2314178
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
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Cat
catalase
ISO
mRNA: decreased expression: glomerulus
RGD
PMID:20685819
RGD:7205671
NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
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Ccl1
C-C motif chemokine ligand 1
IEP
RGD
PMID:10867541
RGD:4891422
NCBI chr10:69,534,976...69,537,836
Ensembl chr10:69,534,933...69,537,882
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Ccl7
C-C motif chemokine ligand 7
IEP
RGD
PMID:10867541
RGD:4891422
NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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Cd36
CD36 molecule
IEP
RGD
PMID:19147991
RGD:2307223
NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
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Cd40lg
CD40 ligand
ISO
RGD
PMID:19889873
RGD:7248422
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Cd59
CD59 molecule
IMP
RGD
PMID:15843577
RGD:1600482
NCBI chr 3:94,010,481...94,028,660
Ensembl chr 3:94,010,475...94,028,621
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Cfh
complement factor H
IEP
protein:altered expression:kidney:
RGD
PMID:22815489
RGD:7364901
NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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Cx3cl1
C-X3-C motif chemokine ligand 1
IEP
RGD
PMID:19590241
RGD:4891946
NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
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Cx3cr1
C-X3-C motif chemokine receptor 1
IEP
RGD
PMID:19590241
RGD:4891946
NCBI chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
IEP
mRNA:decreased expression
RGD
PMID:16574160
RGD:1599698
NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
IDA
RGD
PMID:1328752
RGD:2307321
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Cyp3a18
cytochrome P450, family 3, subfamily a, polypeptide 18
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18725544
NCBI chr12:10,636,294...10,684,273
Ensembl chr12:10,636,275...10,684,278
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18725544
NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
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Ddit3
DNA-damage inducible transcript 3
IEP ISO
Protein:increased expression:glomerulus, podocyte CTD Direct Evidence: marker/mechanism
CTD
PMID:16400006 , PMID:16400006
RGD:1599729
NCBI chr 7:70,578,564...70,585,074
Ensembl chr 7:70,580,198...70,585,084
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Des
desmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16418842
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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Edn1
endothelin 1
IEP ISO
mRNA:increased expression:glomerulus (rat) CTD Direct Evidence: marker/mechanism
CTD
PMID:7756592 , PMID:9175058
RGD:4144855
NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
G
Ednrb
endothelin receptor type B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7756592
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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F2
coagulation factor II
IMP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18541230 , PMID:18541230
RGD:6893577
NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
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Gata3
GATA binding protein 3
ISO
HDR Syndrome/Barakat Syndrome, OMIM:146255
RGD
PMID:10935639
RGD:1358706
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:22046528
RGD:7240570
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
G
Havcr1
hepatitis A virus cellular receptor 1
IEP
mRNA,protein:increased expression:kidney:
RGD
PMID:17213874
RGD:7246891
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
G
Hpse
heparanase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16899518
NCBI chr14:10,534,358...10,576,686
Ensembl chr14:10,534,423...10,575,224
G
Icam1
intercellular adhesion molecule 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12845231
NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
G
Il1b
interleukin 1 beta
IDA
RGD
PMID:22582804
RGD:7175170
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12845231
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
G
Lamb2
laminin subunit beta 2
ISS
MouseDO
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
G
Lrp2
LDL receptor related protein 2
IEP
mRNA:decreased expression:glomerulus
RGD
PMID:10919857
RGD:1641827
NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
G
Nes
nestin
IEP ISO
mRNA, protein:increased expression:glomerulus CTD Direct Evidence: marker/mechanism
CTD
PMID:16418842 , PMID:17637254
RGD:1642072
NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969
G
Nphs2
NPHS2 stomatin family member, podocin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15684566
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
G
Nppa
natriuretic peptide A
IEP
protein:increased expression:plasma
RGD
PMID:8289999
RGD:7247315
NCBI chr 5:164,808,407...164,809,716
Ensembl chr 5:164,808,323...164,809,705
G
Nppb
natriuretic peptide B
IEP
protein:increased expression:plasma
RGD
PMID:8289999
RGD:7247315
NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Pdpn
podoplanin
IEP
mRNA, protein:decreased expression:glomerulus
RGD
PMID:9327748
RGD:632934
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
G
Ptpru
protein tyrosine phosphatase, receptor type, U
IEP
mRNA, protein:decreased expression:glomerulus
RGD
PMID:17457373
RGD:1642654
NCBI chr 5:149,922,374...149,996,352
Ensembl chr 5:149,922,352...149,996,334
G
Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2046802 PMID:6358456
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
G
Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2273594
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
G
Srebf2
sterol regulatory element binding transcription factor 2
IEP
protein:altered localization:nucleus
RGD
PMID:19147991
RGD:2307223
NCBI chr 7:123,381,082...123,438,605
Ensembl chr 7:123,381,077...123,438,603
G
Star
steroidogenic acute regulatory protein
IEP
mRNA:decreased expression:ovary
RGD
PMID:16574160
RGD:1599698
NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
G
Vim
vimentin
IEP ISO
mRNA,protein:increased expression:podocyte CTD Direct Evidence: marker/mechanism
CTD
PMID:16418842 , PMID:16418842
RGD:6480447
NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
G
A2m
alpha-2-macroglobulin
IEP ISO
protein:increased expression:serum CTD Direct Evidence: marker/mechanism
CTD
PMID:11304663 , PMID:9453001
RGD:10046046
NCBI chr 4:154,309,426...154,359,138
G
Acat1
acetyl-CoA acetyltransferase 1
IEP
protein:increased expression:kidney (rat)
RGD
PMID:19147991
RGD:2307223
NCBI chr 8:58,166,990...58,195,884
Ensembl chr 8:58,166,990...58,195,884
G
Ace
angiotensin I converting enzyme
treatment
IDA IMP
protein:increased activity:multiple
RGD
PMID:2175683 , PMID:15942045
RGD:11038913 , RGD:1598707
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
G
Alb
albumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1556257 PMID:17178036 , PMID:22203175
RGD:11036090
NCBI chr14:19,176,275...19,191,793
Ensembl chr14:19,176,277...19,191,863
G
Alox5
arachidonate 5-lipoxygenase
IMP
RGD
PMID:19194550
RGD:2317535
NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
G
Apoa1
apolipoprotein A1
IEP
RGD
PMID:18614621
RGD:2313652
NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
G
Apob
apolipoprotein B
IEP
protein:increased expression:serum (rat)
RGD
PMID:11135070
RGD:11353965
NCBI chr 6:33,176,826...33,216,381
Ensembl chr 6:33,176,778...33,224,997
G
Apoc2
apolipoprotein C2
ISO
protein:increased expression:serum
RGD
PMID:8366982
RGD:2313970
NCBI chr 1:80,589,023...80,593,991
Ensembl chr 1:80,589,023...80,594,136
G
Apoc3
apolipoprotein C3
ISO
protein:increased expression:serum
RGD
PMID:8366982
RGD:2313970
NCBI chr 8:50,529,318...50,531,498
Ensembl chr 8:50,529,318...50,531,498
G
Apoe
apolipoprotein E
ISO
protein:increased expression:serum (human)
RGD
PMID:2381443
RGD:12904707
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
G
Arhgdia
Rho GDP dissociation inhibitor alpha
ISS
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
MouseDO
NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
G
Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Nephrotic range proteinuria
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19406966 PMID:20947785 PMID:21355056 PMID:24509478 PMID:24742477 PMID:25741868 PMID:28492532 PMID:32581362
NCBI chr13:73,950,422...74,025,237
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Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:serum
RGD
PMID:22989431
RGD:7205481
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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Cd2
Cd2 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2465858
NCBI chr 2:203,666,706...203,680,073
Ensembl chr 2:203,666,637...203,680,083
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Cfl1
cofilin 1
treatment
IEP
RGD
PMID:24737737
RGD:11570418
NCBI chr 1:220,869,805...220,873,337
Ensembl chr 1:220,869,805...220,873,337
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col4a1
collagen type IV alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Col4a2
collagen type IV alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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Cpb2
carboxypeptidase B2
ISO
protein:increased activity,increased expression:plasma
RGD
PMID:12439147
RGD:7243124
NCBI chr15:57,290,849...57,339,762
Ensembl chr15:57,290,849...57,339,760
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Ctsl
cathepsin L
IEP
mRNA, protein:increased expression:glomerulus (rat)
RGD
PMID:15197181
RGD:1304337
NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
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Ddc
dopa decarboxylase
IEP
protein:decreased activity:renal cortex (rat)
RGD
PMID:16204272
RGD:5129145
NCBI chr14:91,905,919...91,996,816
Ensembl chr14:91,905,919...91,996,774
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Dgat1
diacylglycerol O-acyltransferase 1
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:15200432
RGD:10400845
NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
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Ece1
endothelin converting enzyme 1
IEP
mRNA,protein:increased expression:kidney:
RGD
PMID:12972712
RGD:7244242
NCBI chr 5:156,215,469...156,318,652
Ensembl chr 5:156,215,417...156,318,671
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Ednra
endothelin receptor type A
IEP
mRNA:increased expression:Glomerulus
RGD
PMID:12972712
RGD:7244242
NCBI chr19:33,928,356...33,991,703
Ensembl chr19:33,928,356...33,991,703
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Epo
erythropoietin
treatment
ISO
RGD
PMID:23128049
RGD:11041725
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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F3
coagulation factor III, tissue factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17513194
NCBI chr 2:225,310,686...225,322,281
Ensembl chr 2:225,310,624...225,322,272
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Fat1
FAT atypical cadherin 1
ISS ISO
ClinVar Annotator: match by term: Nephrotic syndrome
MouseDO ClinVar
PMID:25741868 PMID:26905694
NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21441931
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Gp1ba
glycoprotein Ib platelet subunit alpha
ISO
protein: reduced expression: :
RGD
PMID:12185480
RGD:7242688
NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
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Gpam
glycerol-3-phosphate acyltransferase, mitochondrial
IEP
RGD
PMID:18614621
RGD:2313652
NCBI chr 1:275,843,823...275,906,880
Ensembl chr 1:275,846,819...275,906,686
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Gpc5
glypican 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21441931
NCBI chr15:100,283,131...101,776,838
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Gpx3
glutathione peroxidase 3
ISO
protein:decreased expression:plasma
RGD
PMID:12824952
RGD:1625122
NCBI chr10:40,247,436...40,255,423
Ensembl chr10:40,247,436...40,255,422
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Guca2b
guanylate cyclase activator 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15780094
NCBI chr 5:138,695,591...138,697,641
Ensembl chr 5:138,695,591...138,697,641
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15199296
NCBI chr19:37,476,083...37,481,326
Ensembl chr19:37,476,095...37,481,307
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Igfals
insulin-like growth factor binding protein, acid labile subunit
ISO
RGD
PMID:11248742
RGD:12910863
NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
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Il1b
interleukin 1 beta
severity
IEP ISO
protein:increased expression:serum (human) associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)
RGD
PMID:21359962 , PMID:21103916 , PMID:14760799
RGD:7175324 , RGD:7175339 , RGD:7175337
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il1rn
interleukin 1 receptor antagonist
ISO
DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human)
RGD
PMID:14758530
RGD:6907374
NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19242727
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Il4
interleukin 4
treatment
IEP
RGD
PMID:24812565
RGD:10402803
NCBI chr10:38,963,979...38,969,531
Ensembl chr10:38,963,979...38,969,531
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Il5
interleukin 5
ISO
RGD
PMID:22665336
RGD:7240715
NCBI chr10:39,066,716...39,069,587
Ensembl chr10:39,066,716...39,069,587
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Itsn2
intersectin 2
ISS
MouseDO
NCBI chr 6:30,098,378...30,208,694
Ensembl chr 6:30,098,380...30,187,337
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Jak2
Janus kinase 2
ISO
RGD
PMID:17823504
RGD:6483037
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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Kcnj1
potassium inwardly-rectifying channel, subfamily J, member 1
IEP
RGD
PMID:21606114
RGD:7244390
NCBI chr 8:33,490,280...33,519,127
Ensembl chr 8:33,514,042...33,518,165
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Lama5
laminin subunit alpha 5
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:29534211
NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:28492532
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Lipc
lipase C, hepatic type
IDA
protein, mRNA:reduced expression:liver (rat)
RGD
PMID:9186885
RGD:2308789
NCBI chr 8:77,272,582...77,398,485
Ensembl chr 8:77,272,570...77,398,248
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Mmp1
matrix metallopeptidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mpv17
mitochondrial inner membrane protein MPV17
ISS
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
MouseDO
NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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Myo1e
myosin IE
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 8:76,644,715...76,840,240
Ensembl chr 8:76,754,492...76,839,593
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Nck1
NCK adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 8:108,787,797...108,847,779
Ensembl chr 8:108,787,798...108,847,779
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Nck2
NCK adaptor protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19443634
NCBI chr 9:50,246,767...50,373,307
Ensembl chr 9:50,247,692...50,373,284
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Nos1
nitric oxide synthase 1
IEP
protein:decreased expression:kidney
RGD
PMID:12853118
RGD:1642133
NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341
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Nphs1
NPHS1 adhesion molecule, nephrin
treatment
IEP ISO ISS
mRNA,protein:decreased expression:podocyte (mouse) OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
MouseDO
PMID:15942045 , PMID:22493483
RGD:1598707 , RGD:38599005
NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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Nphs2
NPHS2 stomatin family member, podocin
treatment
IEP ISO
ClinVar Annotator: match by term: Nephrotic range proteinuria CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 PMID:12649741 PMID:14570703 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:16898497 PMID:17371932 PMID:18216321 PMID:18443213 PMID:18823551 PMID:19371226 PMID:19406966 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:23242530 PMID:24089165 PMID:24227627 PMID:24500309 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25741868 PMID:25852895 PMID:26467025 PMID:28492532 PMID:29049388 PMID:29382718 PMID:32581362 , PMID:15942045
RGD:1598707
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
treatment
ISO
RGD
PMID:15833166
RGD:7174719
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Pla2g7
phospholipase A2 group VII
ISO IEP
protein:increased activity:plasma
RGD
PMID:15292677 , PMID:8692015
RGD:7248795 , RGD:7257517
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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Plce1
phospholipase C, epsilon 1
onset
ISO
DNA:mutations: : ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:17086182
RGD:7257519
NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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Ppargc1a
PPARG coactivator 1 alpha
IEP
protein:decreased expression:kidney cortex (rat)
RGD
PMID:22874759
RGD:7242024
NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
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Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:19194550
RGD:2317535
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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RT1-Db1
RT1 class II, locus Db1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6420562 PMID:11095018
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Scnn1a
sodium channel epithelial 1 subunit alpha
IAGP
RGD
PMID:15075188
RGD:1624161
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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Scnn1b
sodium channel epithelial 1 subunit beta
IAGP
RGD
PMID:15075188
RGD:1624161
NCBI chr 1:191,829,547...191,883,991
Ensembl chr 1:191,829,555...191,884,298
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Serpinc1
serpin family C member 1
disease_progression
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11304663 , PMID:7532794 , PMID:8979144
RGD:11035294 , RGD:11038563
NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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Serpine1
serpin family E member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17513194
NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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Smad1
SMAD family member 1
IEP
RGD
PMID:17803470
RGD:1643224
NCBI chr19:32,182,942...32,248,694
Ensembl chr19:32,188,267...32,248,684
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Soat2
sterol O-acyltransferase 2
IEP
mRNA, protein:increased expression:liver
RGD
PMID:11967026
RGD:730139
NCBI chr 7:143,754,892...143,767,989
Ensembl chr 7:143,754,892...143,767,989
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9152291 , PMID:9152291
RGD:11035285
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Tbc1d8b
TBC1 domain family member 8B
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:25741868 PMID:31732614
NCBI chr X:110,894,831...110,983,269
Ensembl chr X:110,894,845...110,983,309
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Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17178036
NCBI chr 8:111,694,570...111,721,275
Ensembl chr 8:111,673,547...111,721,333
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Tfpi
tissue factor pathway inhibitor
ISO
protein:increased expression:plasma
RGD
PMID:22319062
RGD:11341665
NCBI chr 3:71,852,738...71,902,127
Ensembl chr 3:71,852,744...71,893,618
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1281619 PMID:8023968 PMID:10515446
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
protein:decreased expression:serum
RGD
PMID:22989431
RGD:7205481
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
ClinVar Annotator: match by term: Nephrotic syndrome
ClinVar
PMID:26467025 PMID:28204945
NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
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Vldlr
very low density lipoprotein receptor
IEP
protein:decreased expression:heart, skeletal muscle (rat)
RGD
PMID:9186864
RGD:2324668
NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Nephrotic range proteinuria
ClinVar
PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:10094551 PMID:12050205 PMID:19484379 PMID:20442690 PMID:23515051 PMID:24161391 PMID:28492532 PMID:29668062 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Abcc6
ATP binding cassette subfamily C member 6
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:12384774 PMID:25741868
NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
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Alg1
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 PMID:24033266 PMID:25741868 PMID:25956699 PMID:26931382 PMID:27172925 PMID:27325525 PMID:28492532 PMID:28554332
NCBI chr10:10,539,930...10,550,178
Ensembl chr10:10,539,930...10,550,138
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar
PMID:25741868
NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic nephrotic syndrome
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 PMID:14675423 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18823551 PMID:19145239 PMID:19406966 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26594346 PMID:26668027 PMID:28492532 PMID:28658201 PMID:29660491 PMID:29982877 PMID:30260545 PMID:30450462 PMID:32581362
NCBI chr13:73,950,422...74,025,237
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Ccl11
C-C motif chemokine ligand 11
ISO
RGD
PMID:9892814
RGD:7248412
NCBI chr10:69,434,965...69,439,566
Ensembl chr10:69,434,941...69,439,575
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
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Kirrel2
kirre like nephrin family adhesion molecule 2
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:15338398 PMID:19406966 PMID:20172850 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28492532
NCBI chr 1:88,909,829...88,921,154
Ensembl chr 1:88,910,415...88,920,291
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Nphs1
NPHS1 adhesion molecule, nephrin
ISO
DNA:mutations:multiple (human)
RGD
PMID:11317351
RGD:737766
NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 PMID:11733557 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14871423 PMID:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15338398 PMID:15496146 PMID:15504144 PMID:15627790 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18392643 PMID:18443213 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18596732 PMID:18683072 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20001346 PMID:20025681 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24511133 PMID:24519673 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID:27766458 PMID:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:29049388 PMID:29382718 PMID:29660491 PMID:29982877 PMID:30241959 PMID:30260545 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32581362
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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Pros1
protein S
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 PMID:31064749
NCBI chr 7:1,206,648...1,288,140
Ensembl chr 7:1,206,648...1,288,134
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Spink1
serine peptidase inhibitor, Kazal type 1
ISO
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:10691414 PMID:10835640 PMID:12011155 PMID:12187509 PMID:12483248 PMID:12629264 PMID:12743777 PMID:12853682 PMID:16885867 PMID:17204147 PMID:17466744 PMID:17525091 PMID:17568390 PMID:18286680 PMID:18414673 PMID:18617776 PMID:19299380 PMID:19453252 PMID:19565042 PMID:19888199 PMID:21303407 PMID:21375584 PMID:22427236 PMID:22749696 PMID:22995991 PMID:23741238 PMID:23951356 PMID:24033266 PMID:24522117 PMID:24844923 PMID:25010710 PMID:25206283 PMID:25741868 PMID:27535533 PMID:28492532 PMID:28546062 PMID:28556356 PMID:28609377 PMID:28984793
NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
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Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome
ClinVar
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532
NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
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Emp2
epithelial membrane protein 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 10
OMIM ClinVar
PMID:24814193
NCBI chr10:5,433,248...5,467,840
Ensembl chr10:5,433,248...5,467,839
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 11 ClinVar Annotator: match by term: Nephrotic syndrome, type 11
ClinVar OMIM
PMID:25741868 PMID:26411495 PMID:30179222
NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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Nup93
nucleoporin 93
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 12 ClinVar Annotator: match by term: Nephrotic syndrome, type 12
ClinVar OMIM
PMID:25741868 PMID:26878725
NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
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Nup205
nucleoporin 205
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 13 ClinVar Annotator: match by term: Nephrotic syndrome, type 13
ClinVar OMIM
PMID:26878725
NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
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Sgpl1
sphingosine-1-phosphate lyase 1
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME 14 ClinVar Annotator: match by term: Nephrotic syndrome type 14
ClinVar OMIM
PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28181337 PMID:32860008
NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME 15 ClinVar Annotator: match by term: Nephrotic syndrome type 15
ClinVar OMIM
PMID:25741868 PMID:27932480
NCBI chr 4:10,995,241...12,472,423
Ensembl chr 4:10,995,234...11,610,518
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Kank2
KN motif and ankyrin repeat domains 2
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME 16
ClinVar OMIM
PMID:25961457
NCBI chr 8:22,792,000...22,821,459
Ensembl chr 8:22,791,995...22,821,397
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Gga3
golgi associated, gamma adaptin ear containing, ARF binding protein 3
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17
ClinVar
PMID:25741868 PMID:30179222
NCBI chr10:104,137,655...104,156,576
Ensembl chr10:104,137,655...104,156,576
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Nup85
nucleoporin 85
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 17
ClinVar OMIM
PMID:25741868 PMID:30179222
NCBI chr10:104,118,999...104,137,258
Ensembl chr10:104,118,945...104,137,319
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Nup133
nucleoporin 133
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 18
OMIM ClinVar
PMID:25741868 PMID:30179222
NCBI chr19:56,681,965...56,731,404
Ensembl chr19:56,681,979...56,731,372
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Nup160
nucleoporin 160
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 19
OMIM ClinVar
PMID:25741868 PMID:30179222
NCBI chr 3:79,496,239...79,562,163
Ensembl chr 3:79,498,179...79,551,128
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Anxa5
annexin A5
ISO
protein:increased expression:urine
RGD
PMID:17999093
RGD:7242031
NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
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Avil
advillin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:29058690
NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
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Axdnd1
axonemal dynein light chain domain containing 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to
ClinVar
PMID:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 PMID:15253708 PMID:15327385 PMID:17899208 PMID:18216321 PMID:18823551 PMID:19406966 PMID:20507940 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:22565185 PMID:22578956 PMID:23242530 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24413855 PMID:24509478 PMID:24742477 PMID:24856380 PMID:25349199 PMID:25741868 PMID:26420286 PMID:26467025 PMID:26594346 PMID:28492532 PMID:28658201 PMID:30450462 PMID:32581362
NCBI chr13:73,950,422...74,025,237
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
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Col4a4
collagen type IV alpha 4 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25741868
NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
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Col4a5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:32581362
NCBI chr X:112,769,595...112,983,720
Ensembl chr X:112,769,645...112,983,685
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Crb2
crumbs cell polarity complex component 2
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:25557779 PMID:32581362
NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
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Nphs2
NPHS2 stomatin family member, podocin
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to ClinVar Annotator: match by term: Nephrotic syndrome, idiopathic, steroid-resistant CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:600995
OMIM ClinVar CTD
PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 PMID:11854170 PMID:12464671 PMID:12608558 PMID:12644922 PMID:12649741 PMID:12707396 PMID:12776285 PMID:14570703 PMID:14675423 PMID:14871423 PMID:14978175 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15338398 PMID:15496146 PMID:15627790 PMID:15769810 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16286890 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:16968734 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17635752 PMID:17699384 PMID:17899208 PMID:17942774 PMID:17942957 PMID:18216321 PMID:18392643 PMID:18443213 PMID:18481113 PMID:18499321 PMID:18543005 PMID:18683072 PMID:18726620 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:19812541 PMID:20001346 PMID:20025681 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21125408 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21636722 PMID:21722858 PMID:22228437 PMID:22565185 PMID:22578956 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24033266 PMID:24072147 PMID:24089165 PMID:24227627 PMID:24413855 PMID:24500309 PMID:24509478 PMID:24519673 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26248470 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:27766458 PMID:27885584 PMID:28204945 PMID:28385484 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:29049388 PMID:29382718 PMID:30241959 PMID:30260545 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32581362
NCBI chr13:73,929,136...73,941,522
Ensembl chr13:73,929,136...73,941,522
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
mRNA:alternative form:blood, mononuclear cell
RGD
PMID:20419394
RGD:7174729
NCBI chr18:31,728,373...32,704,022
Ensembl chr18:31,728,373...31,749,647
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Nup205
nucleoporin 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 4:62,703,779...62,773,931
Ensembl chr 4:62,703,779...62,773,923
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Nup93
nucleoporin 93
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr19:11,159,769...11,263,980
Ensembl chr19:11,159,774...11,263,980
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Pla2g7
phospholipase A2 group VII
disease_progression
ISO
RGD
PMID:9853251
RGD:7248793
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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Plce1
phospholipase C, epsilon 1
ISO
DNA:mutations: :
RGD
PMID:20591883
RGD:7257521
NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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Trpc6
transient receptor potential cation channel, subfamily C, member 6
ISO
DNA:missense mutations, SNPs:exon, intron:multiple
RGD
PMID:21511817
RGD:7247446
NCBI chr 8:6,811,543...6,917,534
Ensembl chr 8:6,811,543...6,917,535
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:29058690
NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9529364 PMID:9607189 PMID:10470095 PMID:10505700 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:23497137 PMID:23715653 PMID:23935527 PMID:25501161 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27899157 PMID:28204945 PMID:28492532 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Xpo5
exportin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26878725
NCBI chr 9:17,125,201...17,163,170
Ensembl chr 9:17,125,201...17,163,170
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Tbc1d8b
TBC1 domain family member 8B
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 20
OMIM ClinVar
PMID:25741868 PMID:30661770
NCBI chr X:110,894,831...110,983,269
Ensembl chr X:110,894,845...110,983,309
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Avil
advillin
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21
ClinVar OMIM
PMID:29058690
NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
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Tsfm
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 21
ClinVar
PMID:29058690
NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
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Noc3l
NOC3-like DNA replication regulator
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 3
ClinVar
PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 PMID:24247120 PMID:25741868 PMID:26668027
NCBI chr 1:257,469,538...257,498,844
Ensembl chr 1:257,469,538...257,498,844
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Plce1
phospholipase C, epsilon 1
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar Annotator: match by OMIM:610725
OMIM ClinVar
PMID:17086182 PMID:18975016 PMID:20507940 PMID:20591883 PMID:22865593 PMID:23595123 PMID:24130771 PMID:24247120 PMID:24500309 PMID:24902943 PMID:25060053 PMID:25741868 PMID:26467025 PMID:26668027 PMID:27766458 PMID:28492532 PMID:31319225
NCBI chr 1:257,156,023...257,465,440
Ensembl chr 1:257,157,264...257,466,064
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Wt1
WT1 transcription factor
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 4
OMIM ClinVar
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24728327 PMID:24856380 PMID:25110071 PMID:25145932 PMID:25349199 PMID:25383892 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:29668062 PMID:32581362
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar Annotator: match by This custom term has been created by RGD curators. ClinVar Annotator: match by OMIM:614199
OMIM ClinVar
PMID:7885444 PMID:14136829 PMID:16097004 PMID:16912710 PMID:18594871 PMID:19251977 PMID:20556798 PMID:21236492 PMID:21763483 PMID:23349334 PMID:23595123 PMID:25741868 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Serpina10
serpin family A member 10
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
ClinVar
PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868
NCBI chr 6:127,500,014...127,508,470
Ensembl chr 6:127,500,016...127,508,452
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Ptpro
protein tyrosine phosphatase, receptor type, O
ISO
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:21722858
NCBI chr 4:171,250,766...171,461,571
Ensembl chr 4:171,250,818...171,461,677
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Dgke
diacylglycerol kinase epsilon
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 7 ClinVar Annotator: match by OMIM:615008
OMIM ClinVar
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25741868 PMID:29590070
NCBI chr10:76,375,981...76,408,224
Ensembl chr10:76,386,471...76,407,989
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Arhgdia
Rho GDP dissociation inhibitor alpha
ISO
ClinVar Annotator: match by OMIM:615244
OMIM ClinVar
PMID:23867502
NCBI chr10:109,754,012...109,757,506
Ensembl chr10:109,754,004...109,757,550
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Coq8b
coenzyme Q8B
ISO
ClinVar Annotator: match by term: Nephrotic syndrome, type 9 ClinVar Annotator: match by OMIM:615573
OMIM ClinVar
PMID:24270420
NCBI chr 1:84,043,487...84,067,066
Ensembl chr 1:84,044,551...84,067,066
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C3
complement C3
ISO
protein:increased processing:erythrocyte
RGD
PMID:6915939
RGD:11040769
NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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C5
complement C5
ISO
ClinVar Annotator: match by term: Eculizumab, poor response to
OMIM ClinVar
PMID:24521109
NCBI chr 3:14,049,993...14,113,931 NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:22206707
RGD:11352266
NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
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Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 CTD Direct Evidence: marker/mechanism associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human) ClinVar Annotator: match by OMIM:300818
OMIM ClinVar CTD
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 PMID:9233558 PMID:9787183 PMID:10220445 PMID:15720958 PMID:16767100 PMID:25741868 PMID:28492532 , PMID:12424196
RGD:11087560
NCBI chr X:31,786,823...31,799,751
Ensembl chr X:31,786,194...31,799,560
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD ClinVar
PMID:25417052 PMID:25741868
NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphism, haplotype
RGD
PMID:12070003
RGD:11041765
NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism, haplotype
RGD
PMID:12070003
RGD:11041765
NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 ClinVar Annotator: match by OMIM:615399
OMIM ClinVar
PMID:23733340
NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
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Lamb2
laminin subunit beta 2
ISO
ClinVar Annotator: match by term: Pierson syndrome ClinVar Annotator: match by OMIM:609049 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:2206901 PMID:14136829 PMID:15367484 PMID:15372515 PMID:16097004 PMID:16912710 PMID:17256789 PMID:18594871 PMID:20507940 PMID:20556798 PMID:21763483 PMID:23349334 PMID:23595123 PMID:24033266 PMID:25741868 PMID:26108971 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28492532 PMID:28780565 PMID:29127259 PMID:32860008 , PMID:15367484 , PMID:15367484
RGD:7207425 , RGD:7207425
NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
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Tns2
tensin 2
ISS
OMIM:609049
MouseDO
NCBI chr 7:143,702,623...143,720,995
Ensembl chr 7:143,707,237...143,720,595
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Cubn
cubilin
ISO
ClinVar Annotator: match by term: PROTEINURIA, CHRONIC BENIGN
ClinVar OMIM
PMID:31613795
NCBI chr17:80,584,921...80,807,181
Ensembl chr17:80,584,878...80,807,243
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Ace
angiotensin I converting enzyme
treatment
IMP
RGD
PMID:3392211
RGD:12879820
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Acmsd
aminocarboxymuconate semialdehyde decarboxylase
IDA
RGD
PMID:16711654
RGD:13831123
NCBI chr13:44,424,689...44,468,734
Ensembl chr13:44,424,689...44,468,734
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Actr2
actin related protein 2
IEP
mRNA, protein:increased expression:cortex of kidney (rat)
RGD
PMID:19617259
RGD:11530057
NCBI chr14:104,338,486...104,375,840
Ensembl chr14:104,340,434...104,375,649
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Agt
angiotensinogen
IEP
RGD
PMID:8446257
RGD:11039400
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Apoe
apolipoprotein E
IEP
RGD
PMID:8413767
RGD:11040583
NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
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Baiap2
BAR/IMD domain containing adaptor protein 2
IEP
protein:increased expression:glomerular visceral epithelial cell
RGD
PMID:17569780
RGD:9684990
NCBI chr10:109,107,326...109,187,458
Ensembl chr10:109,107,389...109,187,115
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Fas
Fas cell surface death receptor
IEP
protein:increased expression:renal glomerulus, renal interstitium, renal tubule
RGD
PMID:16152783
RGD:1600352
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Mmp2
matrix metallopeptidase 2
IEP
mRNA:increased expression:renal glomerulus (rat)
RGD
PMID:9175058
RGD:4144855
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Nphs1
NPHS1 adhesion molecule, nephrin
IEP
mRNA, protein:altered expression:glomerulus (rat)
RGD
PMID:21876538
RGD:38599163
NCBI chr 1:88,922,346...88,950,560
Ensembl chr 1:88,922,433...88,950,559
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Pak2
p21 (RAC1) activated kinase 2
IEP
RGD
PMID:20071462
RGD:9835041
NCBI chr11:72,829,407...72,865,815
Ensembl chr11:72,829,238...72,865,902
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Ren
renin
IEP
RGD
PMID:8446257
RGD:11039400
NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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Xdh
xanthine dehydrogenase
treatment
IEP
RGD
PMID:26121320
RGD:13208956
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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Smarcal1
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia ClinVar Annotator: match by term: Schimke immunoosseous dysplasia ClinVar Annotator: match by OMIM:242900 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:11799392 PMID:15523612 PMID:15880370 PMID:16237566 PMID:16840568 PMID:17089404 PMID:18805831 PMID:18974355 PMID:19127206 PMID:19793864 PMID:20301550 PMID:21914180 PMID:22998683 PMID:23671665 PMID:24589093 PMID:25741868 PMID:25748404 PMID:26089390 PMID:26195148 PMID:26499378 PMID:28492532 PMID:28780565 PMID:28796785 PMID:29802247 PMID:30026777 PMID:30784191 , PMID:11799392
RGD:1599053
NCBI chr 9:79,943,775...79,990,230
Ensembl chr 9:79,944,132...79,990,229
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