RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | Urination Disorders |
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Accession: | DOID:9003919
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browse the term
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Definition: | Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE. |
Synonyms: | exact_synonym: | Urination Disorder |
| primary_id: | MESH:D014555 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Esr1 |
estrogen receptor 1 |
treatment |
IDA |
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RGD |
PMID:24259512 |
RGD:10045674 |
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2 |
estrogen receptor 2 |
treatment |
IDA |
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RGD |
PMID:24259512 |
RGD:10045674 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Gfap |
glial fibrillary acidic protein |
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IMP |
associated with spinal cord injuries |
RGD |
PMID:21250919 |
RGD:6480511 |
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Nos1 |
nitric oxide synthase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9142130 |
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NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nppa |
natriuretic peptide A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8318687 |
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NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20956320 |
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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Ttpa |
alpha tocopherol transfer protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10896705 |
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NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
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Vim |
vimentin |
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IMP |
associated with spinal cord injuries |
RGD |
PMID:21250919 |
RGD:6480511 |
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Ace |
angiotensin I converting enzyme |
treatment |
ISO IMP |
associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human) associated with Diabetic Nephropathies CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23733546 PMID:1336356 PMID:16902320 |
RGD:7829770, RGD:12879427 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Adm |
adrenomedullin |
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ISO |
associated with Hypertension |
RGD |
PMID:19424162 |
RGD:2313311 |
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
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Ager |
advanced glycosylation end product-specific receptor |
treatment |
ISO IDA |
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human) associated with Diabetes Mellitus, Experimental associated with Diabetic Nephropathies |
RGD |
PMID:21607631 PMID:21796806 PMID:20627935 |
RGD:7243944, RGD:7244184, RGD:7244135 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12414515 PMID:18679781 PMID:21896938 PMID:15118671 |
RGD:1331525 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Akr1b1 |
aldo-keto reductase family 1 member B1 |
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ISO |
associated with Diabetes Mellitus, Experimental;human gene in a rat model |
RGD |
PMID:12166624 |
RGD:8548813 |
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Alb |
albumin |
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ISO IEP |
associated with Diabetes Mellitus, Insulin-Dependent associated with hypertension |
RGD |
PMID:19414946 PMID:15102963 |
RGD:2306884, RGD:1601157 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alox12 |
arachidonate 12-lipoxygenase, 12S type |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human) |
RGD |
PMID:18640486 |
RGD:2313875 |
NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542
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B2m |
beta-2 microglobulin |
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ISO |
associated with HIV infections;protein:increased expression:urine |
RGD |
PMID:18469311 |
RGD:6482713 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Casp1 |
caspase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
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NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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Casr |
calcium-sensing receptor |
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IDA |
associated with Uremia |
RGD |
PMID:19188910 |
RGD:7205661 |
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
associated with Diabetes Mellitus, Type 2;protein:increased expression:urine |
RGD |
PMID:21113841 |
RGD:5683918 |
NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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Cd38 |
CD38 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21992601 |
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NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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Ciita |
class II, major histocompatibility complex, transactivator |
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ISO |
DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects (human) |
RGD |
PMID:17183695 |
RGD:5491201 |
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Cp |
ceruloplasmin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21752484 |
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NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075
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Crp |
C-reactive protein |
severity |
ISO |
associated with Anemia, Sickle Cell; protein:increased expression:serum associated with hypertension |
RGD |
PMID:20710104 PMID:20016210 |
RGD:6907441, RGD:6909147 |
NCBI chr13:85,131,635...85,175,179
Ensembl chr13:85,124,977...85,175,178
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Csf1 |
colony stimulating factor 1 |
treatment |
IDA |
associated with Hypercholesterolemia and Diabetes Mellitus, Experimental |
RGD |
PMID:8573750 |
RGD:7257591 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Cst3 |
cystatin C |
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ISO |
associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human) |
RGD |
PMID:19596469 |
RGD:2314309 |
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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Ctsb |
cathepsin B |
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IDA |
associated with Hypertension |
RGD |
PMID:19023196 |
RGD:2315726 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Ctsl |
cathepsin L |
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IDA |
associated with Hypertension |
RGD |
PMID:19023196 |
RGD:2315726 |
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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Cyp11b2 |
cytochrome P450, family 11, subfamily b, polypeptide 2 |
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IMP |
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RGD |
PMID:15939810 |
RGD:2307307 |
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Drd1 |
dopamine receptor D1 |
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ISO |
DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) |
RGD |
PMID:17353515 |
RGD:7248452 |
NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
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Edn1 |
endothelin 1 |
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IEP |
protein:increased expression:renal papilla (rat) |
RGD |
PMID:20666571 |
RGD:4144838 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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Epo |
erythropoietin |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum |
RGD |
PMID:16921186 |
RGD:2313841 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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F7 |
coagulation factor VII |
no_association severity |
ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human) |
RGD |
PMID:8458188 PMID:8250495 PMID:9187410 |
RGD:2312410, RGD:2312407, RGD:2312406 |
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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Fbn1 |
fibrillin 1 |
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ISO |
associated with Hypertension |
RGD |
PMID:16380460 |
RGD:7365080 |
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Ggt1 |
gamma-glutamyltransferase 1 |
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ISO |
associated with Diabetes Mellitus; protein:increased activity:serum |
RGD |
PMID:15890893 |
RGD:2315606 |
NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442
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Gnaq |
G protein subunit alpha q |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16267159 |
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NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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Gpc5 |
glypican 5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21441931 |
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NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
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Havcr1 |
hepatitis A virus cellular receptor 1 |
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ISO |
associated with Anemia, Sickle Cell;protein:increased expression:urine: |
RGD |
PMID:21630304 |
RGD:7245982 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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Igf1 |
insulin-like growth factor 1 |
susceptibility |
ISO |
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RGD |
PMID:16645019 |
RGD:1598420 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il1b |
interleukin 1 beta |
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ISO |
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RGD |
PMID:23103566 |
RGD:7175089 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17167242 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ins2 |
insulin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9861226 PMID:29420703 |
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NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
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Lepr |
leptin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17065336 PMID:20175764 PMID:23159718 PMID:28130181 PMID:29988851 |
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NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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Lipc |
lipase C, hepatic type |
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ISO |
associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human) |
RGD |
PMID:8666151 |
RGD:2308836 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Lrp2 |
LDL receptor related protein 2 |
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IDA |
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RGD |
PMID:12121845 |
RGD:1641839 |
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Mir130a |
microRNA 130a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24223694 |
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NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629
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Mir145 |
microRNA 145 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24223694 |
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NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727
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Mir155 |
microRNA 155 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24223694 |
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NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir322 |
microRNA 322 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24223694 |
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NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688
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Mmp9 |
matrix metallopeptidase 9 |
onset |
ISO |
associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human) |
RGD |
PMID:9774113 |
RGD:7207214 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human) |
RGD |
PMID:22554825 |
RGD:6893631 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Myh9 |
myosin, heavy chain 9 |
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ISO |
associated with hypertension;DNA:SNPs: : |
RGD |
PMID:19153477 |
RGD:6903241 |
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Nck1 |
NCK adaptor protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19443634 |
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NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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Nck2 |
NCK adaptor protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19443634 |
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NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
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Nphs2 |
NPHS2 stomatin family member, podocin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15684566 |
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NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Nr4a1 |
nuclear receptor subfamily 4, group A, member 1 |
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IMP |
compared to FHH |
RGD |
PMID:24722447 |
RGD:12910103 |
NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297
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Nr4a1m1Mcwi |
nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin |
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IMP |
compared to FHH |
RGD |
PMID:24722447 |
RGD:12910103 |
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Pdpn |
podoplanin |
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IEP |
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RGD |
PMID:18199599 |
RGD:2292240 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Pon1 |
paraoxonase 1 |
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ISO |
DNA:polymorphisms:promoter, cds (human) |
RGD |
PMID:16949520 |
RGD:2313272 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ppargc1a |
PPARG coactivator 1 alpha |
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ISO |
associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human) |
RGD |
PMID:22684233 |
RGD:7242025 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17890881 |
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NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Pth |
parathyroid hormone |
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ISO |
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human) |
RGD |
PMID:23066118 |
RGD:7242730 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pycard |
PYD and CARD domain containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22647887 |
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NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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Rab38 |
RAB38, member RAS oncogene family |
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IAGP |
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi |
RGD |
PMID:15758045 PMID:23291471 |
RGD:1357409, RGD:13782139 |
NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924
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G |
Rab38em1Mcwi |
RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
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IAGP |
compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi |
RGD |
PMID:23291471 |
RGD:13782139 |
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Rag1 |
recombination activating 1 |
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IMP |
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RGD |
PMID:23364523 |
RGD:7207429 |
NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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Rag1em1Mcwi |
recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
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IMP |
as compare to o.4% NaCl diet |
RGD |
PMID:23364523 |
RGD:7207429 |
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Rag1em2Mcwi |
recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin |
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IMP |
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RGD |
PMID:23364523 |
RGD:7207429 |
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Ren |
renin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12414515 PMID:18679781 |
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NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Retn |
resistin |
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ISO |
associated with Hypertension;protein:increased expression:blood |
RGD |
PMID:20203628 |
RGD:7207150 |
NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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Serpine1 |
serpin family E member 1 |
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ISO |
associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human) |
RGD |
PMID:9201602 |
RGD:8547710 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1 |
serpin family F member 1 |
treatment |
ISO |
associated with Diabetes Mellitus, Experimental; human gene in a rat model |
RGD |
PMID:16731830 |
RGD:8554875 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sh2b3 |
SH2B adaptor protein 3 |
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IMP |
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RGD |
PMID:25776069 |
RGD:13442483 |
NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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G |
Sh2b3em1Mcwi |
SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin |
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IMP |
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RGD |
PMID:25776069 |
RGD:13442483 |
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Shc1 |
SHC adaptor protein 1 |
ameliorates |
IMP |
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RGD |
PMID:27270176 |
RGD:12792230 |
NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536
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G |
Shc1em4Mcwi |
SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin |
ameliorates |
IMP |
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RGD |
PMID:27270176 |
RGD:12792230 |
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17942768 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Spp1 |
secreted phosphoprotein 1 |
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IEP |
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RGD |
PMID:18443355 |
RGD:6903862 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tmem63c |
transmembrane protein 63c |
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IEP |
mRNA:increased expression:kidney,renal glomerulus (rat) |
RGD |
PMID:30900988 |
RGD:15023481 |
NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17167242 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Trpc3 |
transient receptor potential cation channel, subfamily C, member 3 |
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IEP |
associated with Hypertension;mRNA, protein:increased expression:kidney cortex |
RGD |
PMID:19887786 |
RGD:7247603 |
NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855
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G |
Trpc5 |
transient receptor potential cation channel, subfamily C, member 5 |
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ISO |
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RGD |
PMID:24231357 |
RGD:10043830 |
NCBI chr X:107,946,163...108,230,978
Ensembl chr X:107,939,131...108,230,991
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO IEP |
associated with Hypertension;mRNA:decreased expression:kidney cortex |
RGD |
PMID:21839714 PMID:19887786 |
RGD:7247445, RGD:7247603 |
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Tslp |
thymic stromal lymphopoietin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17686814 |
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NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma |
RGD |
PMID:18299691 |
RGD:2312766 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:8527259 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Alb |
albumin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6734075 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8225663 |
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NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Prkab1 |
protein kinase AMP-activated non-catalytic subunit beta 1 |
treatment |
ISO |
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RGD |
PMID:27782167 |
RGD:39128183 |
NCBI chr12:40,588,140...40,598,673
Ensembl chr12:40,588,211...40,598,661
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G |
Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy |
ClinVar OMIM RGD |
PMID:11134255 PMID:11961012 PMID:23325022 PMID:24052634 PMID:25229338 PMID:25307543 PMID:25741868 PMID:28492532 PMID:29098738 PMID:29854973 PMID:30476138 PMID:33532864 PMID:19357112 More...
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RGD:7242047 |
NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria | ClinVar Annotator: match by term: Thin basement membrane nephropathy |
ClinVar OMIM RGD |
PMID:8787673 PMID:9536098 PMID:9792860 PMID:11961012 PMID:12325029 PMID:14582039 PMID:16199547 PMID:16338941 PMID:17216251 PMID:17396119 PMID:17576681 PMID:21196518 PMID:24033287 PMID:24052634 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 PMID:26809805 PMID:26934356 PMID:28492532 PMID:28632965 PMID:28844315 PMID:29496980 PMID:29801666 PMID:31934206 PMID:32939031 PMID:33048202 PMID:33369211 PMID:33532864 PMID:33772369 PMID:33838161 PMID:19357112 More...
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RGD:7242047 |
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria |
ClinVar |
PMID:25741868 |
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Lama5 |
laminin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Familial hematuria |
ClinVar |
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NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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G |
Myo1e |
myosin IE |
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ISO |
ClinVar Annotator: match by term: Microscopic hematuria |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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G |
Plce1 |
phospholipase C, epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Microscopic hematuria |
ClinVar |
PMID:25741868 |
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NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Microscopic hematuria |
ClinVar |
PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Slc16a12 |
solute carrier family 16, member 12 |
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ISO |
ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria |
OMIM ClinVar |
PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 PMID:26376857 PMID:26694549 PMID:28492532 More...
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NCBI chr 1:232,184,004...232,262,170
Ensembl chr 1:232,185,907...232,262,141
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G |
Cd59 |
CD59 molecule |
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ISO |
ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy |
OMIM ClinVar |
PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 |
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NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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G |
Cubn |
cubilin |
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ISO |
ClinVar Annotator: match by term: Proteinuria, chronic benign |
OMIM ClinVar |
PMID:15024727 PMID:16199547 PMID:17668238 PMID:22929189 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31613795 PMID:33226606 PMID:33532864 More...
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NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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G |
Bnc2 |
basonuclin 2 |
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ISO |
ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31051115 |
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NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426
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G |
Ppic |
peptidylprolyl isomerase C |
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ISO |
ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital |
ClinVar |
PMID:31690835 |
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NCBI chr18:46,842,410...46,855,016
Ensembl chr18:46,842,409...46,855,017
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G |
Prdm6 |
PR/SET domain 6 |
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ISO |
ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital |
ClinVar |
PMID:31690835 |
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NCBI chr18:46,904,115...47,008,482
Ensembl chr18:46,904,127...47,007,823
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G |
Sncaip |
synuclein, alpha interacting protein |
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ISO |
ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital |
ClinVar |
PMID:31690835 |
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NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929
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G |
Snx2 |
sorting nexin 2 |
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ISO |
ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital |
ClinVar |
PMID:31690835 |
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NCBI chr18:46,602,223...46,643,870
Ensembl chr18:46,602,284...46,643,865
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G |
Snx24 |
sorting nexin 24 |
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ISO |
ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital |
ClinVar |
PMID:31690835 |
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NCBI chr18:46,670,987...46,826,070
Ensembl chr18:46,671,443...46,826,068
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G |
Mmp1 |
matrix metallopeptidase 1 |
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ISO |
protein:decreased activity:kidney (mouse) |
RGD |
PMID:11014984 |
RGD:7207147 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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G |
Aspa |
aspartoacylase |
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ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 |
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NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
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G |
Ctns |
cystinosin, lysosomal cystine transporter |
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ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
OMIM ClinVar |
PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 PMID:10556299 PMID:10571941 PMID:10625078 PMID:10673275 PMID:10909858 PMID:11505338 PMID:11562417 PMID:11565547 PMID:11689434 PMID:11708862 PMID:11855931 PMID:12110740 PMID:12204010 PMID:12442267 PMID:12644911 PMID:12825071 PMID:15128704 PMID:15365816 PMID:16199547 PMID:17576681 PMID:18178779 PMID:18186520 PMID:18752449 PMID:19852576 PMID:19863563 PMID:20061170 PMID:20301574 PMID:21305353 PMID:21546516 PMID:21786142 PMID:22232659 PMID:22450360 PMID:22528245 PMID:22664570 PMID:23640116 PMID:24033266 PMID:24123366 PMID:24464559 PMID:25326109 PMID:25741868 PMID:26266097 PMID:26489029 PMID:26565940 PMID:27102039 PMID:27533158 PMID:27625850 PMID:27734949 PMID:27858370 PMID:28122645 PMID:28238446 PMID:28276207 PMID:28405942 PMID:28492532 PMID:28629674 PMID:28649545 PMID:28793998 PMID:28893421 PMID:28983406 PMID:29467429 PMID:30554218 PMID:33532864 PMID:33822926 PMID:35738466 More...
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NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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G |
Shpk |
sedoheptulokinase |
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ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:10909858 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:27102039 PMID:27734949 PMID:28492532 More...
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NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980
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G |
Trpv1 |
transient receptor potential cation channel, subfamily V, member 1 |
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ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:10909858 PMID:12110740 PMID:15365816 PMID:18186520 PMID:19863563 PMID:21546516 PMID:27102039 PMID:27734949 PMID:28492532 More...
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NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
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G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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ISO |
ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE |
ClinVar |
PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 |
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NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Diffuse mesangial sclerosis |
ClinVar |
PMID:25514610 PMID:25741868 PMID:28632965 |
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Lamb2 |
laminin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Diffuse mesangial sclerosis |
CTD ClinVar |
PMID:15367484 PMID:25741868 PMID:28492532 |
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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G |
Plce1 |
phospholipase C, epsilon 1 |
|
ISO |
DNA:mutations: : |
RGD |
PMID:18065803 |
RGD:7257520 |
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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G |
Lmbrd1 |
LMBR1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Donnai-Barrow syndrome |
ClinVar |
PMID:19136951 PMID:25741868 PMID:28492532 |
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NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090
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G |
Lrp2 |
LDL receptor related protein 2 |
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ISO |
ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome |
OMIM ClinVar |
PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 PMID:17576681 PMID:17632512 PMID:18414213 PMID:20301732 PMID:20359920 PMID:23033978 PMID:24319098 PMID:24406863 PMID:24876117 PMID:25158045 PMID:25326635 PMID:25682901 PMID:25741868 PMID:26118977 PMID:26529358 PMID:28492532 PMID:30167849 PMID:32238909 PMID:33103447 PMID:34979047 More...
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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G |
Kirrel2 |
kirre like nephrin family adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Congenital nephrotic syndrome |
ClinVar |
PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28476686 PMID:28492532 PMID:31216994 More...
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NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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G |
Rgs2 |
regulator of G-protein signaling 2 |
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IEP |
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RGD |
PMID:18372098 |
RGD:13524574 |
NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
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G |
Gon7 |
GON7 subunit of KEOPS complex |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome |
ClinVar |
PMID:25741868 PMID:31481669 |
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NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Osgep |
O-sialoglycoprotein endopeptidase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Galloway-Mowat syndrome |
CTD ClinVar |
PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828 |
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NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
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G |
Tprkb |
Tp53rk binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
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NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
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G |
Trp53rka |
transformation related protein 53 regulating kinase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28805828 |
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NCBI chr 3:154,221,605...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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G |
Wdr4 |
WD repeat domain 4 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome |
ClinVar |
PMID:25741868 PMID:30079490 |
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NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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G |
Wdr73 |
WD repeat domain 73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25466283 |
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NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
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G |
Zfp592 |
zinc finger protein 592 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20531441 |
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NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
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G |
Eng |
endoglin |
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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 More...
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NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Wdr73 |
WD repeat domain 73 |
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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:27001912 PMID:28492532 PMID:29127259 PMID:30315938 More...
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NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
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G |
Zfp592 |
zinc finger protein 592 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 |
ClinVar |
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727 |
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NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443
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G |
C5h1orf122 |
similar to human chromosome 1 open reading frame 122 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 |
ClinVar |
PMID:31481669 |
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NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929
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G |
Yrdc |
yrdC N(6)-threonylcarbamoyltransferase domain containing |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 |
OMIM ClinVar |
PMID:31481669 PMID:34545459 |
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NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked |
OMIM ClinVar |
PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828 |
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Osgep |
O-sialoglycoprotein endopeptidase |
|
ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 |
OMIM ClinVar |
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 PMID:29127259 PMID:31564459 PMID:33333793 PMID:33532864 More...
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NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
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Trp53rka |
transformation related protein 53 regulating kinase A |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 |
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NCBI chr 3:154,221,605...154,224,841
Ensembl chr 3:154,220,851...154,224,328
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Tprkb |
Tp53rk binding protein |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 5 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 |
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NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
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Wdr4 |
WD repeat domain 4 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 6 |
OMIM ClinVar |
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 PMID:30079490 More...
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NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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Nup107 |
nucleoporin 107 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 7 |
OMIM ClinVar |
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 PMID:30179222 More...
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NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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Nup133 |
nucleoporin 133 |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8 |
OMIM ClinVar |
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554 |
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NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
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Gon7 |
GON7 subunit of KEOPS complex |
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ISO |
ClinVar Annotator: match by term: Galloway-Mowat syndrome 9 |
OMIM ClinVar |
PMID:25741868 PMID:31481669 |
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NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643 Ensembl chr 6:121,885,694...121,898,643
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Hnf4a |
hepatocyte nuclear factor 4, alpha |
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ISO |
ClinVar Annotator: match by term: Glycosuria |
ClinVar |
PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 PMID:16883527 PMID:16946562 PMID:17573900 PMID:18811724 PMID:19406499 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27846149 PMID:28492532 More...
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NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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G |
Aspg |
asparaginase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2187653 |
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NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
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G |
C3 |
complement C3 |
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ISO |
protein:increased expression:renal arteriole: |
RGD |
PMID:10955930 |
RGD:7183083 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria |
ClinVar RGD |
PMID:24854265 PMID:25741868 PMID:28492532 PMID:19357112 |
RGD:7242047 |
NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Hematuria |
ClinVar RGD |
PMID:24052634 PMID:24854265 PMID:25741868 PMID:26809805 PMID:28492532 PMID:28844315 PMID:33772369 PMID:19357112 More...
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RGD:7242047 |
NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Hematuria |
ClinVar |
PMID:9150741 PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 PMID:14604828 PMID:18083113 PMID:19919694 PMID:19965530 PMID:20130921 PMID:20301386 PMID:20378821 PMID:21505094 PMID:21848006 PMID:24046192 PMID:25741868 PMID:26467025 PMID:27627812 PMID:28492532 PMID:29144512 PMID:29526710 PMID:30311386 PMID:31027891 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29027484 |
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NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
F7 |
coagulation factor VII |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17133240 |
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NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
treatment |
IDA IEP |
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RGD |
PMID:22634839 PMID:22634839 |
RGD:7242178, RGD:7242178 |
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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G |
Lama5 |
laminin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Macroscopic hematuria |
ClinVar |
PMID:25741868 |
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NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19147669 |
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NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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G |
Plau |
plasminogen activator, urokinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8225663 |
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NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1267567 PMID:1324751 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Acbd7 |
acyl-CoA binding domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:74,903,936...74,909,977
Ensembl chr17:74,903,177...74,905,811
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G |
Akr1c1 |
aldo-keto reductase family 1, member C1 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326
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Akr1c2 |
aldo-keto reductase family 1, member C2 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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G |
Akr1c3 |
aldo-keto reductase family 1, member C3 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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G |
Akr1e2 |
aldo-keto reductase family 1, member E2 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:65,735,909...65,750,441
Ensembl chr17:65,735,943...65,750,441
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G |
Ankrd16 |
ankyrin repeat domain 16 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533
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G |
Arl5b |
ADP-ribosylation factor like GTPase 5B |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:77,955,749...77,983,745
Ensembl chr17:77,955,818...77,979,854
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G |
Asb13 |
ankyrin repeat and SOCS box-containing 13 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337
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Atp5f1c |
ATP synthase F1 subunit gamma |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367
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Bend7 |
BEN domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:73,483,212...73,566,221
Ensembl chr17:73,485,282...73,567,559
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G |
C1ql3 |
complement C1q like 3 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:76,121,832...76,128,327
Ensembl chr17:76,119,447...76,128,530
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Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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G |
Calml3 |
calmodulin-like 3 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175
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Calml5 |
calmodulin-like 5 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,394,433...66,395,390
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Camk1d |
calcium/calmodulin-dependent protein kinase ID |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556
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G |
Ccdc3 |
coiled-coil domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337
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Cdc123 |
cell division cycle 123 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:72,459,296...72,502,948
Ensembl chr17:72,459,282...72,503,316
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G |
Cdnf |
cerebral dopamine neurotrophic factor |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:74,714,564...74,728,639
Ensembl chr17:74,713,564...74,728,639
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G |
Celf2 |
CUGBP, Elav-like family member 2 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333
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G |
Cubn |
cubilin |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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G |
Dclre1c |
DNA cross-link repair 1C |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
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G |
Dhtkd1 |
dehydrogenase E1 and transketolase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
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G |
Echdc3 |
enoyl CoA hydratase domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:72,070,697...72,093,519
Ensembl chr17:72,070,668...72,093,516
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G |
Fam107b |
family with sequence similarity 107, member B |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:74,478,608...74,685,027
Ensembl chr17:74,478,608...74,684,989
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G |
Fam171a1 |
family with sequence similarity 171, member A1 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:75,024,582...75,148,348
Ensembl chr17:75,024,575...75,150,255
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G |
Fbh1 |
F-box DNA helicase 1 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590
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G |
Frmd4a |
FERM domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687
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G |
Gata3 |
GATA binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10935639 PMID:11389161 PMID:15705923 PMID:16912130 PMID:17210674 PMID:17309062 PMID:18621058 PMID:19248180 PMID:19253381 PMID:20006695 PMID:21120445 PMID:21834031 PMID:23052618 PMID:23142663 PMID:23435732 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25741912 PMID:26316437 PMID:26467025 PMID:26514990 PMID:27387476 PMID:28166811 PMID:28492532 PMID:28566604 PMID:30143558 PMID:30311386 PMID:30534854 PMID:31433868 PMID:32442337 More...
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NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gdi2 |
GDP dissociation inhibitor 2 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
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G |
Hacd1 |
3-hydroxyacyl-CoA dehydratase 1 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073
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G |
Hspa14 |
heat shock protein family A (Hsp70) member 14 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:74,728,945...74,749,730
Ensembl chr17:74,728,899...74,749,727
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G |
Il15ra |
interleukin 15 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Itga8 |
integrin subunit alpha 8 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510
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G |
Itih2 |
inter-alpha-trypsin inhibitor heavy chain 2 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:68,375,518...68,411,849
Ensembl chr17:68,375,567...68,411,841
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G |
Itih5 |
inter-alpha-trypsin inhibitor heavy chain 5 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:68,248,115...68,352,216
Ensembl chr17:68,252,128...68,352,207
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G |
Kin |
Kin17 DNA and RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:68,413,483...68,431,392
Ensembl chr17:68,413,486...68,423,845
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G |
Mcm10 |
minichromosome maintenance 10 replication initiation factor |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364
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G |
Meig1 |
meiosis/spermiogenesis associated 1 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433
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G |
Mindy3 |
MINDY lysine 48 deubiquitinase 3 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854
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G |
Net1 |
neuroepithelial cell transforming 1 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441
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G |
Nmt2 |
N-myristoyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080
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G |
Nsun6 |
NOP2/Sun RNA methyltransferase 6 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006
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G |
Nudt5 |
nudix hydrolase 5 |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001
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G |
Olah |
oleoyl-ACP hydrolase |
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ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:74,877,651...74,902,517
Ensembl chr17:74,877,655...74,902,518
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G |
Optn |
optineurin |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
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G |
Pfkfb3 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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G |
Prkcq |
protein kinase C, theta |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704
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G |
Proser2 |
proline and serine rich 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:72,151,961...72,187,524
Ensembl chr17:72,151,872...72,185,825
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G |
Prpf18 |
pre-mRNA processing factor 18 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979
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G |
Pter |
phosphotriesterase related |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627
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G |
Rbm17 |
RNA binding motif protein 17 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014
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G |
Rpp38 |
ribonuclease P/MRP subunit p38 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431
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G |
Rsu1 |
Ras suppressor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454
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G |
Sec61a2 |
SEC61 translocon subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494
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G |
Sephs1 |
selenophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:73,354,435...73,382,803
Ensembl chr17:73,356,530...73,382,593
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G |
Sfmbt2 |
Scm-like with four mbt domains 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:67,934,296...68,128,905
Ensembl chr17:67,935,904...68,128,781
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G |
Slc39a12 |
solute carrier family 39 member 12 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353
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|
G |
St8sia6 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,740,755...76,883,766
Ensembl chr17:76,745,224...76,884,299
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G |
Stam |
signal transducing adaptor molecule |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467
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G |
Suv39h2 |
SUV39H2 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332
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|
G |
Taf3 |
TATA-box binding protein associated factor 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:68,455,389...68,608,367
Ensembl chr17:68,423,909...68,608,367
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|
G |
Tasor2 |
transcription activation suppressor family member 2 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135
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|
G |
Trdmt1 |
tRNA aspartic acid methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439
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G |
Tubal3 |
tubulin, alpha-like 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355
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|
G |
Ucma |
upper zone of growth plate and cartilage matrix associated |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:73,293,977...73,303,728
Ensembl chr17:73,293,978...73,303,611
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G |
Ucn3 |
urocortin 3 |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:66,309,952...66,315,571
Ensembl chr17:66,309,371...66,315,990
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|
G |
Upf2 |
UPF2, regulator of nonsense mediated mRNA decay |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:72,224,575...72,335,896
Ensembl chr17:72,225,316...72,335,855
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|
G |
Usp6nl |
USP6 N-terminal like |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027
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G |
Vim |
vimentin |
|
ISO |
ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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|
|
G |
Amn |
amnion associated transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:18181028 PMID:21750092 PMID:22078000 PMID:22631584 PMID:22929189 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30041674 PMID:30523278 More...
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|
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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|
G |
Cacnb2 |
calcium voltage-gated channel auxiliary subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106
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G |
Cubn |
cubilin |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17576681 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25525159 PMID:25741868 PMID:26040326 PMID:26467025 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 More...
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|
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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G |
Hacd1 |
3-hydroxyacyl-CoA dehydratase 1 |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073
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G |
Slc39a12 |
solute carrier family 39 member 12 |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:77,353,761...77,440,381
Ensembl chr17:77,353,805...77,440,353
|
|
G |
St8sia6 |
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:76,740,755...76,883,766
Ensembl chr17:76,745,224...76,884,299
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G |
Stam |
signal transducing adaptor molecule |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467
|
|
G |
Traf3 |
Tnf receptor-associated factor 3 |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
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G |
Trdmt1 |
tRNA aspartic acid methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439
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G |
Vim |
vimentin |
|
ISO |
ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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|
|
G |
Amn |
amnion associated transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type |
ClinVar |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:21750092 PMID:22078000 PMID:22929189 PMID:24156255 PMID:25741868 PMID:28492532 PMID:30523278 More...
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|
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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G |
Cblif |
cobalamin binding intrinsic factor |
|
ISO |
DNA:polymorphisms, missense mutations, splice sites:exon,intron: protein:increased excretion:urine: |
RGD |
PMID:15738392 PMID:10435666 |
RGD:11049583, RGD:11049586 |
NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
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G |
Cubn |
cubilin |
|
ISO |
DNA:missense mutation:cds:p.P1297L (human) ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type |
ClinVar OMIM RGD |
PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 PMID:16199547 PMID:17668238 PMID:21208123 PMID:22277662 PMID:22495309 PMID:22929189 PMID:24033266 PMID:24156255 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27197912 PMID:28492532 PMID:31497480 PMID:31613795 PMID:33226606 PMID:33532864 PMID:10080186 More...
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RGD:61796 |
NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231
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G |
Amn |
amnion associated transmembrane protein |
|
ISO |
DNA:mutation:splice site: ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type |
ClinVar OMIM RGD |
PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 PMID:17576681 PMID:22078000 PMID:22929189 PMID:24156255 PMID:25741868 PMID:26040326 PMID:28492532 PMID:30523278 PMID:17114957 More...
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RGD:11071839 |
NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815
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G |
Itga3 |
integrin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital |
OMIM ClinVar |
PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 PMID:28492532 PMID:29127259 More...
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NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
treatment |
IEP |
|
RGD |
PMID:24119646 |
RGD:10043363 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Il13 |
interleukin 13 |
|
IMP |
|
RGD |
PMID:17429054 |
RGD:2290347 |
NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
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G |
Il17a |
interleukin 17A |
|
IEP |
Protein:increased expression:plasma (rat) |
RGD |
PMID:22772331 |
RGD:9068937 |
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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G |
Lgals1 |
galectin 1 |
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IEP |
protein:decreased expression:glomerulus, podocytes (rat) |
RGD |
PMID:19079321 |
RGD:2316526 |
NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
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ISO |
ClinVar Annotator: match by term: Minimal change disease |
ClinVar |
PMID:23687361 PMID:32581362 |
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NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
disease_progression |
ISO |
|
RGD |
PMID:17890747 |
RGD:7174718 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Stat6 |
signal transducer and activator of transcription 6 |
severity no_association |
ISO |
DNA:polymorphism:3' utr:g.2964G>A (human) DNA:polymorphism:3' utr:2964G>A (human) DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human) |
RGD |
PMID:12900808 PMID:15687724 PMID:19011907 |
RGD:7244138, RGD:7244146, RGD:7244144 |
NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Ace |
angiotensin I converting enzyme |
treatment |
IEP IMP |
protein:increased activity:multiple (rats) Adriamycin Nephrosis |
RGD |
PMID:8303709 PMID:8665777 |
RGD:8157608, RGD:12879388 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Agt |
angiotensinogen |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2046802 |
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3301049 |
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NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Angpt1 |
angiopoietin 1 |
|
IEP |
mRNA, protein:decreased expression:glomerulus |
RGD |
PMID:16626513 |
RGD:1626164 |
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
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G |
Angpt2 |
angiopoietin 2 |
|
IDA IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:18929866 PMID:18929864 |
RGD:2314177, RGD:2314178 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Cat |
catalase |
|
ISO |
mRNA: decreased expression: glomerulus |
RGD |
PMID:20685819 |
RGD:7205671 |
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Ccl1 |
C-C motif chemokine ligand 1 |
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IEP |
|
RGD |
PMID:10867541 |
RGD:4891422 |
NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
|
IEP |
|
RGD |
PMID:10867541 |
RGD:4891422 |
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Cd36 |
CD36 molecule |
|
IEP |
|
RGD |
PMID:19147991 |
RGD:2307223 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40lg |
CD40 ligand |
|
ISO |
|
RGD |
PMID:19889873 |
RGD:7248422 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cd59 |
CD59 molecule |
|
IMP |
|
RGD |
PMID:15843577 |
RGD:1600482 |
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
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G |
Cfh |
complement factor H |
|
IEP |
protein:altered expression:kidney: |
RGD |
PMID:22815489 |
RGD:7364901 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
|
IEP |
|
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
IEP |
|
RGD |
PMID:19590241 |
RGD:4891946 |
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
|
IEP |
mRNA:decreased expression |
RGD |
PMID:16574160 |
RGD:1599698 |
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
|
IDA |
|
RGD |
PMID:1328752 |
RGD:2307321 |
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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G |
Cyp3a18 |
cytochrome P450, family 3, subfamily a, polypeptide 18 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18725544 |
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NCBI chr12:8,880,528...8,930,382
Ensembl chr12:8,880,528...8,930,381
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18725544 |
|
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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|
G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
IEP ISO |
Protein:increased expression:glomerulus, podocyte CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16400006 PMID:16400006 |
RGD:1599729 |
NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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|
G |
Des |
desmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16418842 |
|
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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|
G |
Edn1 |
endothelin 1 |
|
IEP ISO |
mRNA:increased expression:glomerulus (rat) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7756592 PMID:9175058 |
RGD:4144855 |
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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|
G |
Ednrb |
endothelin receptor type B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7756592 |
|
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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|
G |
F2 |
coagulation factor II |
|
IMP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18541230 PMID:18541230 |
RGD:6893577 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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|
G |
Gata3 |
GATA binding protein 3 |
|
ISO |
HDR Syndrome/Barakat Syndrome, OMIM:146255 |
RGD |
PMID:10935639 |
RGD:1358706 |
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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|
G |
Gpx1 |
glutathione peroxidase 1 |
|
ISO |
|
RGD |
PMID:22046528 |
RGD:7240570 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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|
G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
IEP |
mRNA,protein:increased expression:kidney: |
RGD |
PMID:17213874 |
RGD:7246891 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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|
G |
Hpse |
heparanase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16899518 |
|
NCBI chr14:8,896,593...8,937,011
Ensembl chr14:8,896,593...8,937,010
|
|
G |
Icam1 |
intercellular adhesion molecule 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12845231 |
|
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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|
G |
Il1b |
interleukin 1 beta |
|
IDA |
|
RGD |
PMID:22582804 |
RGD:7175170 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12845231 |
|
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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|
G |
Lamb2 |
laminin subunit beta 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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|
G |
Lrp2 |
LDL receptor related protein 2 |
|
IEP |
mRNA:decreased expression:glomerulus |
RGD |
PMID:10919857 |
RGD:1641827 |
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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|
G |
Nes |
nestin |
|
IEP ISO |
mRNA, protein:increased expression:glomerulus CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16418842 PMID:17637254 |
RGD:1642072 |
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
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|
G |
Nphs2 |
NPHS2 stomatin family member, podocin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15684566 |
|
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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|
G |
Nppa |
natriuretic peptide A |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:8289999 |
RGD:7247315 |
NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
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|
G |
Nppb |
natriuretic peptide B |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:8289999 |
RGD:7247315 |
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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|
G |
Pdpn |
podoplanin |
|
IEP |
mRNA, protein:decreased expression:glomerulus |
RGD |
PMID:9327748 |
RGD:632934 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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|
G |
Ptpru |
protein tyrosine phosphatase, receptor type, U |
|
IEP |
mRNA, protein:decreased expression:glomerulus |
RGD |
PMID:17457373 |
RGD:1642654 |
NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768
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|
G |
Ren |
renin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2046802 PMID:6358456 |
|
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:2273594 |
|
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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|
G |
Srebf2 |
sterol regulatory element binding transcription factor 2 |
|
IEP |
protein:altered localization:nucleus |
RGD |
PMID:19147991 |
RGD:2307223 |
NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848
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|
G |
Star |
steroidogenic acute regulatory protein |
|
IEP |
mRNA:decreased expression:ovary |
RGD |
PMID:16574160 |
RGD:1599698 |
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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|
G |
Vim |
vimentin |
|
IEP ISO |
mRNA,protein:increased expression:podocyte CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16418842 PMID:16418842 |
RGD:6480447 |
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
A2m |
alpha-2-macroglobulin |
|
IEP ISO |
protein:increased expression:serum CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11304663 PMID:9453001 |
RGD:10046046 |
NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786
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G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
|
IEP |
protein:increased expression:kidney (rat) |
RGD |
PMID:19147991 |
RGD:2307223 |
NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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|
G |
Ace |
angiotensin I converting enzyme |
treatment |
IDA IMP |
protein:increased activity:multiple |
RGD |
PMID:2175683 PMID:15942045 |
RGD:11038913, RGD:1598707 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Actn4 |
actinin alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
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G |
Agxt |
alanine--glyoxylate aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:10453743 PMID:15327387 PMID:15464418 PMID:17495019 PMID:19479957 PMID:25629080 PMID:25741868 PMID:27135212 PMID:28492532 PMID:28619084 PMID:29127259 PMID:30655312 More...
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NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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|
G |
Alb |
albumin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:1556257 PMID:17178036 PMID:22203175 |
RGD:11036090 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
|
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NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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|
G |
Alox5 |
arachidonate 5-lipoxygenase |
|
IMP |
|
RGD |
PMID:19194550 |
RGD:2317535 |
NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Anln |
anillin, actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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G |
Apoa1 |
apolipoprotein A1 |
|
IEP |
|
RGD |
PMID:18614621 |
RGD:2313652 |
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apob |
apolipoprotein B |
|
IEP |
protein:increased expression:serum (rat) |
RGD |
PMID:11135070 |
RGD:11353965 |
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
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|
G |
Apoc2 |
apolipoprotein C2 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:8366982 |
RGD:2313970 |
NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476
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|
G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:8366982 |
RGD:2313970 |
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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|
G |
Apoe |
apolipoprotein E |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:2381443 |
RGD:12904707 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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|
G |
Arhgap24 |
Rho GTPase activating protein 24 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
|
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NCBI chr14:6,800,631...7,184,001
Ensembl chr14:6,800,631...7,183,823
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|
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 |
|
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NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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|
G |
Atic |
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:29127259 |
|
NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 PMID:15253708 PMID:15327385 PMID:18823551 PMID:19145239 PMID:19406966 PMID:20798252 PMID:20947785 PMID:21355056 PMID:22763815 PMID:23515051 PMID:23645318 PMID:24509478 PMID:24742477 PMID:25349199 PMID:25741868 PMID:26413278 PMID:28492532 PMID:28780565 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:30655312 PMID:32581362 More...
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NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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|
G |
Bglap |
bone gamma-carboxyglutamate protein |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:22989431 |
RGD:7205481 |
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Cd2 |
Cd2 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2465858 |
|
NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026
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G |
Cdk20 |
cyclin-dependent kinase 20 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:29127259 |
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NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826
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G |
Cfi |
complement factor I |
disease_progression |
ISO |
|
RGD |
PMID:9745775 |
RGD:108019049 |
NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561
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G |
Cfl1 |
cofilin 1 |
treatment |
IEP |
|
RGD |
PMID:24737737 |
RGD:11570418 |
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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|
G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Cog1 |
component of oligomeric golgi complex 1 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:19008299 PMID:25741868 PMID:29127259 |
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NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292
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|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1281619 |
|
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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|
G |
Col4a1 |
collagen type IV alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1281619 |
|
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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G |
Col4a2 |
collagen type IV alpha 2 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1281619 |
|
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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G |
Col4a3 |
collagen type IV alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375 |
|
NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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|
G |
Col4a4 |
collagen type IV alpha 4 chain |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:11961012 PMID:14582039 PMID:19129241 PMID:21196518 PMID:24052634 PMID:24522496 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 PMID:26809805 PMID:27281700 PMID:28492532 PMID:33532864 More...
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Col4a5 |
collagen type IV alpha 5 chain |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9848783 PMID:15044104 PMID:19344236 PMID:23720012 PMID:24130771 PMID:25741868 PMID:27627812 PMID:28492532 PMID:28542346 PMID:29127259 PMID:32405592 More...
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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|
G |
Coq2 |
coenzyme Q2, polyprenyltransferase |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:17855635 PMID:20689595 PMID:23349334 PMID:25349199 PMID:25741868 PMID:28492532 PMID:29127259 PMID:29637272 PMID:29869118 PMID:30295827 More...
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NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891
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G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:33532864 |
|
NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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|
G |
Cpb2 |
carboxypeptidase B2 |
|
ISO |
protein:increased activity,increased expression:plasma |
RGD |
PMID:12439147 |
RGD:7243124 |
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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|
G |
Ctns |
cystinosin, lysosomal cystine transporter |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:10556299 PMID:19580442 PMID:24464559 PMID:29127259 |
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NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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|
G |
Ctsl |
cathepsin L |
|
IEP |
mRNA, protein:increased expression:glomerulus (rat) |
RGD |
PMID:15197181 |
RGD:1304337 |
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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|
G |
Ddc |
dopa decarboxylase |
|
IEP |
protein:decreased activity:renal cortex (rat) |
RGD |
PMID:16204272 |
RGD:5129145 |
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
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|
G |
Dgat1 |
diacylglycerol O-acyltransferase 1 |
|
IEP |
mRNA,protein:increased expression:liver: |
RGD |
PMID:15200432 |
RGD:10400845 |
NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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|
G |
Dgke |
diacylglycerol kinase epsilon |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:23274426 PMID:25349199 PMID:25741868 PMID:29127259 |
|
NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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|
G |
Dhtkd1 |
dehydrogenase E1 and transketolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:28492532 PMID:29127259 |
|
NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723
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|
G |
Ece1 |
endothelin converting enzyme 1 |
|
IEP |
mRNA,protein:increased expression:kidney: |
RGD |
PMID:12972712 |
RGD:7244242 |
NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371
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|
G |
Edn1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34783119 |
|
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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G |
Ednra |
endothelin receptor type A |
|
IEP |
mRNA:increased expression:Glomerulus |
RGD |
PMID:12972712 |
RGD:7244242 |
NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
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G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:23128049 |
RGD:11041725 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17513194 |
|
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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|
G |
Fat1 |
FAT atypical cadherin 1 |
|
ISS ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
MouseDO ClinVar |
PMID:25741868 PMID:26905694 |
|
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Fgf2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441931 |
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NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fn1 |
fibronectin 1 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:29127259 |
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NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G |
Gla |
galactosidase, alpha |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:29127259 |
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NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
protein: reduced expression: : |
RGD |
PMID:12185480 |
RGD:7242688 |
NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Gpam |
glycerol-3-phosphate acyltransferase, mitochondrial |
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IEP |
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RGD |
PMID:18614621 |
RGD:2313652 |
NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639
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G |
Gpc5 |
glypican 5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21441931 |
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NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282
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G |
Gpx3 |
glutathione peroxidase 3 |
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ISO |
protein:decreased expression:plasma |
RGD |
PMID:12824952 |
RGD:1625122 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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G |
Guca2b |
guanylate cyclase activator 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15780094 |
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NCBI chr 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966
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G |
Hsd11b2 |
hydroxysteroid 11-beta dehydrogenase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15199296 |
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NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
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ISO |
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RGD |
PMID:11248742 |
RGD:12910863 |
NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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G |
Il1b |
interleukin 1 beta |
severity |
IEP ISO |
protein:increased expression:serum (human) associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human) |
RGD |
PMID:21359962 PMID:21103916 PMID:14760799 |
RGD:7175324, RGD:7175339, RGD:7175337 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human) |
RGD |
PMID:14758530 |
RGD:6907374 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19242727 |
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NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
treatment |
IEP |
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RGD |
PMID:24812565 |
RGD:10402803 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il5 |
interleukin 5 |
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ISO |
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RGD |
PMID:22665336 |
RGD:7240715 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Inf2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29127259 |
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NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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G |
Itga3 |
integrin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:22512483 PMID:29127259 |
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NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118
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G |
Itgb4 |
integrin subunit beta 4 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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G |
Itsn1 |
intersectin 1 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29773874 |
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NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645
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G |
Itsn2 |
intersectin 2 |
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ISS |
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MouseDO |
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NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
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G |
Jak2 |
Janus kinase 2 |
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ISO |
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RGD |
PMID:17823504 |
RGD:6483037 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Kank4 |
KN motif and ankyrin repeat domains 4 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25961457 PMID:28492532 PMID:29127259 |
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NCBI chr 5:113,401,491...113,465,526
Ensembl chr 5:113,402,468...113,465,555
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G |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
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IEP |
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RGD |
PMID:21606114 |
RGD:7244390 |
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
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G |
Kirrel2 |
kirre like nephrin family adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:11317351 PMID:11854170 PMID:12039988 PMID:18503012 PMID:20507940 PMID:22584503 PMID:25741868 PMID:28492532 PMID:29127259 PMID:30963316 More...
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NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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G |
Lama5 |
laminin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:23999528 PMID:25741868 PMID:26553438 PMID:28492532 PMID:29534211 PMID:31321674 More...
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NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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G |
Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:2206901 PMID:15367484 PMID:25741868 PMID:28492532 PMID:29127259 |
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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G |
Lipc |
lipase C, hepatic type |
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IDA |
protein, mRNA:reduced expression:liver (rat) |
RGD |
PMID:9186885 |
RGD:2308789 |
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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G |
Lmx1b |
LIM homeobox transcription factor 1 beta |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 PMID:28492532 PMID:29127259 PMID:32356190 PMID:32791958 PMID:33532864 More...
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NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
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G |
Mpv17 |
mitochondrial inner membrane protein MPV17 |
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ISS |
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 |
MouseDO |
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NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244
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G |
Myh9 |
myosin, heavy chain 9 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 |
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NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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G |
Myo1e |
myosin IE |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29127259 |
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NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169
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G |
Nck1 |
NCK adaptor protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19443634 |
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NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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G |
Nck2 |
NCK adaptor protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19443634 |
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NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307
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G |
Nfkbia |
NFKB inhibitor alpha |
exacerbates |
ISO |
protein:decreased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:17441336 |
RGD:127285019 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Noc3l |
NOC3-like DNA replication regulator |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
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NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
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G |
Nos1 |
nitric oxide synthase 1 |
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IEP |
protein:decreased expression:kidney |
RGD |
PMID:12853118 |
RGD:1642133 |
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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G |
Nphs1 |
NPHS1 adhesion molecule, nephrin |
treatment |
IEP ISO ISS |
mRNA,protein:decreased expression:podocyte (mouse) OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861 |
MouseDO RGD |
PMID:15942045 PMID:22493483 |
RGD:1598707, RGD:38599005 |
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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G |
Nphs2 |
NPHS2 stomatin family member, podocin |
treatment |
IEP ISO |
ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 PMID:12464671 PMID:12649741 PMID:12707396 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15322893 PMID:15327385 PMID:15954915 PMID:16481888 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17371932 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18443213 PMID:18499321 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19268410 PMID:19371226 PMID:19406966 PMID:19520069 PMID:19674119 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21171529 PMID:21355056 PMID:21415313 PMID:21722858 PMID:22228437 PMID:22578956 PMID:22763815 PMID:23013956 PMID:23242530 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:23800802 PMID:24089165 PMID:24227627 PMID:24500309 PMID:24509478 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25349199 PMID:25599733 PMID:25741868 PMID:25852895 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:28385484 PMID:28492532 PMID:28529802 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29869118 PMID:29982877 PMID:30241959 PMID:30260545 PMID:30348286 PMID:30655312 PMID:31027891 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:33193607 PMID:33532864 PMID:34405919 PMID:15942045 More...
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RGD:1598707 |
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
treatment |
ISO |
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RGD |
PMID:15833166 |
RGD:7174719 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Nup93 |
nucleoporin 93 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 PMID:33532864 More...
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NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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G |
Osgep |
O-sialoglycoprotein endopeptidase |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28805828 PMID:29127259 PMID:31564459 PMID:33333793 More...
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NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568
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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
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NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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G |
Pdss2 |
decaprenyl diphosphate synthase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:17186472 PMID:17374725 PMID:25741868 PMID:29127259 |
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NCBI chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708
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G |
Pla2g7 |
phospholipase A2 group VII |
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ISO IEP |
protein:increased activity:plasma |
RGD |
PMID:15292677 PMID:8692015 |
RGD:7248795, RGD:7257517 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Plce1 |
phospholipase C, epsilon 1 |
onset |
ISO |
DNA:mutations: : ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar RGD |
PMID:25741868 PMID:29127259 PMID:17086182 |
RGD:7257519 |
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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G |
Ppargc1a |
PPARG coactivator 1 alpha |
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IEP |
protein:decreased expression:kidney cortex (rat) |
RGD |
PMID:22874759 |
RGD:7242024 |
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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IMP |
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RGD |
PMID:19194550 |
RGD:2317535 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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G |
Ren |
renin |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
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NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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G |
RT1-Db1 |
RT1 class II, locus Db1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6420562 PMID:11095018 |
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NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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G |
Runx2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
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NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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G |
Scnn1a |
sodium channel epithelial 1 subunit alpha |
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IAGP |
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RGD |
PMID:15075188 |
RGD:1624161 |
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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G |
Scnn1b |
sodium channel epithelial 1 subunit beta |
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IAGP |
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RGD |
PMID:15075188 |
RGD:1624161 |
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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G |
Serpinc1 |
serpin family C member 1 |
disease_progression |
IEP ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11304663 PMID:7532794 PMID:8979144 |
RGD:11035294, RGD:11038563 |
NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17513194 |
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NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Sgpl1 |
sphingosine-1-phosphate lyase 1 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:23232022 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28492532 PMID:29127259 PMID:32233035 PMID:32860008 PMID:33074640 More...
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NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
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G |
Slc35f1 |
solute carrier family 35, member F1 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:29127259 |
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NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611
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G |
Smad1 |
SMAD family member 1 |
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IEP |
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RGD |
PMID:17803470 |
RGD:1643224 |
NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651
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G |
Smarcal1 |
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 PMID:18974355 PMID:19127206 PMID:20301550 PMID:21914180 PMID:22998683 PMID:24589093 PMID:25741868 PMID:26499378 PMID:28492532 PMID:28796785 PMID:29127259 More...
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NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146
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G |
Soat2 |
sterol O-acyltransferase 2 |
|
IEP |
mRNA, protein:increased expression:liver |
RGD |
PMID:11967026 |
RGD:730139 |
NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:9152291 PMID:9152291 |
RGD:11035285 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Synpo |
synaptopodin |
|
ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:33615071 |
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NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126
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G |
Tbc1d8b |
TBC1 domain family member 8B |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:31732614 |
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NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133
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G |
Tf |
transferrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17178036 |
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NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
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G |
Tfpi |
tissue factor pathway inhibitor |
|
ISO |
protein:increased expression:plasma |
RGD |
PMID:22319062 |
RGD:11341665 |
NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1281619 PMID:8023968 PMID:10515446 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tnfrsf11b |
TNF receptor superfamily member 11B |
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ISO |
protein:decreased expression:serum |
RGD |
PMID:22989431 |
RGD:7205481 |
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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G |
Tns2 |
tensin 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29773874 |
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NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888
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G |
Tprkb |
Tp53rk binding protein |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:28805828 PMID:29127259 |
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NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:15924139 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28204945 PMID:28492532 PMID:29127259 PMID:30295827 PMID:30655312 PMID:31937884 PMID:33884742 More...
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NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Vldlr |
very low density lipoprotein receptor |
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IEP |
protein:decreased expression:heart, skeletal muscle (rat) |
RGD |
PMID:9186864 |
RGD:2324668 |
NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920
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G |
Wdr73 |
WD repeat domain 73 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:29127259 |
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NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome |
ClinVar |
PMID:1658787 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:10094551 PMID:12050205 PMID:17576681 PMID:19484379 PMID:20442690 PMID:23515051 PMID:24161391 PMID:25741868 PMID:28492532 PMID:29668062 PMID:30655312 PMID:32352694 PMID:32581362 More...
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Abcc6 |
ATP binding cassette subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
PMID:12384774 PMID:25741868 PMID:28492532 |
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NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464
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G |
Alg1 |
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase |
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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 PMID:31994750 More...
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NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
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G |
Arhgdia |
Rho GDP dissociation inhibitor alpha |
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ISO |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Idiopathic nephrotic syndrome |
ClinVar |
PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 PMID:15769810 PMID:16354237 PMID:16898497 PMID:18823551 PMID:19145239 PMID:19876656 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:23349334 PMID:23515051 PMID:23645318 PMID:24227627 PMID:24509478 PMID:25349199 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:28492532 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:32604935 More...
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NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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G |
Ccl11 |
C-C motif chemokine ligand 11 |
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ISO |
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RGD |
PMID:9892814 |
RGD:7248412 |
NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
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NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Kirrel2 |
kirre like nephrin family adhesion molecule 2 |
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ISO |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 PMID:12039988 PMID:15338398 PMID:15906409 PMID:18436095 PMID:18503012 PMID:19406966 PMID:20172850 PMID:20507940 PMID:22584503 PMID:23949594 PMID:25741868 PMID:26467025 PMID:28117080 PMID:28476686 PMID:28492532 PMID:29127259 PMID:30963316 PMID:31216994 More...
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NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670
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G |
Nphs1 |
NPHS1 adhesion molecule, nephrin |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:11317351 |
RGD:737766 |
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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G |
Nphs2 |
NPHS2 stomatin family member, podocin |
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ISO |
ClinVar Annotator: match by term: Idiopathic nephrotic syndrome |
ClinVar |
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 PMID:12464671 PMID:12644922 PMID:12707396 PMID:14570703 PMID:14701729 PMID:14978175 PMID:15253708 PMID:15769810 PMID:16291839 PMID:16354237 PMID:16721582 PMID:16898497 PMID:17109732 PMID:17899208 PMID:18216321 PMID:18823551 PMID:19145239 PMID:19406966 PMID:19876656 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24227627 PMID:24509478 PMID:24742477 PMID:25349199 PMID:25525159 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30609409 PMID:32129207 PMID:32604935 PMID:33532864 More...
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NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Pros1 |
protein S |
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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 More...
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NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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G |
Spink1 |
serine peptidase inhibitor, Kazal type 1 |
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ISO |
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 |
ClinVar |
PMID:10691414 PMID:10835640 PMID:11950815 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 PMID:34828289 More...
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NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Emp2 |
epithelial membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 10 |
OMIM ClinVar |
PMID:24814193 PMID:25741868 PMID:28492532 |
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NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733
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G |
Nup107 |
nucleoporin 107 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 11 |
OMIM ClinVar |
PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222 |
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NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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G |
Nup93 |
nucleoporin 93 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 12 |
OMIM ClinVar |
PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864 |
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NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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G |
Nup205 |
nucleoporin 205 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 13 |
OMIM ClinVar |
PMID:25741868 PMID:26878725 PMID:28492532 |
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NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
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G |
Sgpl1 |
sphingosine-1-phosphate lyase 1 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome 14 |
OMIM ClinVar |
PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28181337 PMID:28492532 PMID:29127259 PMID:32233035 PMID:32860008 PMID:33074640 More...
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NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
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G |
Magi2 |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome 15 |
OMIM ClinVar |
PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 PMID:30986657 More...
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NCBI chr 4:14,388,322...15,870,036
Ensembl chr 4:14,386,399...15,870,240
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G |
Kank2 |
KN motif and ankyrin repeat domains 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome 16 |
OMIM ClinVar |
PMID:25741868 PMID:25961457 PMID:28492532 |
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NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900
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G |
Gga3 |
golgi associated, gamma adaptin ear containing, ARF binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 17 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30179222 |
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NCBI chr10:100,825,426...100,844,462
Ensembl chr10:100,825,426...100,844,462
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G |
Nup85 |
nucleoporin 85 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 17 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30179222 |
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NCBI chr10:100,806,482...100,825,029
Ensembl chr10:100,806,437...100,825,043
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G |
Nup133 |
nucleoporin 133 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 18 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30179222 |
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NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239
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G |
Nup160 |
nucleoporin 160 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 19 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30179222 |
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NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565
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G |
Anxa5 |
annexin A5 |
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ISO |
protein:increased expression:urine |
RGD |
PMID:17999093 |
RGD:7242031 |
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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G |
Avil |
advillin |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 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:17576681 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:22763815 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:28476686 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30260545 PMID:30295827 PMID:30406062 PMID:30450462 PMID:30655312 PMID:31308032 PMID:32581362 PMID:32604935 PMID:33532864 More...
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NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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G |
Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a4 |
collagen type IV alpha 4 chain |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:32581362 |
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Crb2 |
crumbs cell polarity complex component 2 |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25557779 PMID:25741868 PMID:27004616 PMID:28492532 PMID:32581362 |
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NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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G |
Nphs2 |
NPHS2 stomatin family member, podocin |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 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:14978175 PMID:15015071 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15264208 PMID:15322893 PMID:15327385 PMID:15496146 PMID:15504144 PMID:15769810 PMID:15780077 PMID:15817495 PMID:15954915 PMID:15968559 PMID:16199547 PMID:16286890 PMID:16291839 PMID:16354237 PMID:16481888 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17109732 PMID:17216259 PMID:17218332 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18380020 PMID:18443213 PMID:18499321 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: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:22763815 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:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25060053 PMID:25349199 PMID:25525159 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25852895 PMID:25903641 PMID:26138234 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:26594346 PMID:26668027 PMID:26820844 PMID:27885584 PMID:28117080 PMID:28204945 PMID:28385484 PMID:28476686 PMID:28492532 PMID:28529802 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29049388 PMID:29127259 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29869118 PMID:29982877 PMID:30013592 PMID:30241959 PMID:30260545 PMID:30295827 PMID:30348286 PMID:30406062 PMID:30450462 PMID:30609409 PMID:30655312 PMID:31027891 PMID:31308032 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:32604935 PMID:33193607 PMID:33532864 PMID:34405919 More...
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NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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G |
Nr3c1 |
nuclear receptor subfamily 3, group C, member 1 |
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ISO |
mRNA:alternative form:blood, mononuclear cell |
RGD |
PMID:20419394 |
RGD:7174729 |
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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G |
Nup205 |
nucleoporin 205 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
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G |
Nup93 |
nucleoporin 93 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 PMID:11461952 PMID:22213154 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:33532864 More...
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NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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G |
Pla2g7 |
phospholipase A2 group VII |
disease_progression |
ISO |
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RGD |
PMID:9853251 |
RGD:7248793 |
NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476
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G |
Plce1 |
phospholipase C, epsilon 1 |
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ISO |
DNA:mutations: : |
RGD |
PMID:20591883 |
RGD:7257521 |
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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G |
Trpc6 |
transient receptor potential cation channel, subfamily C, member 6 |
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ISO |
DNA:missense mutations, SNPs:exon, intron:multiple |
RGD |
PMID:21511817 |
RGD:7247446 |
NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10762296 PMID:11182928 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:22099579 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25501161 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:32352694 PMID:32581362 More...
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Xpo5 |
exportin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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G |
Tbc1d8b |
TBC1 domain family member 8B |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 20 |
OMIM ClinVar |
PMID:25741868 PMID:30661770 PMID:31732614 |
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NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133
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G |
Avil |
advillin |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 21 |
OMIM ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 21 |
ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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G |
Nos1ap |
nitric oxide synthase 1 adaptor protein |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 22 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33523862 |
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NCBI chr13:82,549,786...82,820,949
Ensembl chr13:82,530,577...82,820,949
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G |
Kirrel1 |
kirre like nephrin family adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 23 |
OMIM ClinVar |
PMID:31472902 |
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NCBI chr 2:172,521,644...172,615,057
Ensembl chr 2:172,525,245...172,615,299
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G |
Daam2 |
dishevelled associated activator of morphogenesis 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 24 |
OMIM ClinVar |
PMID:25741868 PMID:33232676 |
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NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497
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G |
Lama5 |
laminin subunit alpha 5 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 26 |
OMIM ClinVar |
PMID:25741868 PMID:29534211 PMID:32439764 PMID:35419533 |
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NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
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G |
Noc3l |
NOC3-like DNA replication regulator |
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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 PMID:28492532 More...
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NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318
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G |
Plce1 |
phospholipase C, epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 |
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:28780565 PMID:31319225 More...
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NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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G |
Wt1 |
WT1 transcription factor |
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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:8810912 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:10094551 PMID:10470095 PMID:10505700 PMID:10603123 PMID:10762296 PMID:11182928 PMID:11278460 PMID:11322369 PMID:12050205 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:16932893 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:18203154 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19484379 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:20442690 PMID:21125408 PMID:21499692 PMID:22099579 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:25720465 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 More...
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities |
OMIM ClinVar |
PMID:2206901 PMID:7885444 PMID:14136829 PMID:15367484 PMID:16097004 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 PMID:29127259 More...
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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G |
Serpina10 |
serpin family A member 10 |
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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 |
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NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544
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G |
Ptpro |
protein tyrosine phosphatase, receptor type, O |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 6 |
OMIM ClinVar |
PMID:21722858 PMID:25741868 PMID:28492532 |
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NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771
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G |
Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis |
OMIM ClinVar |
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25349199 PMID:25741868 PMID:28056875 PMID:28492532 PMID:29127259 PMID:29590070 More...
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NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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G |
Arhgdia |
Rho GDP dissociation inhibitor alpha |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 8 |
OMIM ClinVar |
PMID:23867502 PMID:25741868 PMID:25741905 |
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NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023
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G |
Coq8b |
coenzyme Q8B |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 9 |
OMIM ClinVar |
PMID:24270420 PMID:25741868 PMID:28204945 PMID:28405841 PMID:28492532 PMID:30076350 PMID:33084234 PMID:33413146 PMID:33532864 PMID:34172776 More...
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NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
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G |
Drd4 |
dopamine receptor D4 |
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ISO |
DNA:duplication, polymorphisms, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human) |
RGD |
PMID:18947481 |
RGD:7248549 |
NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
associated with Hemolytic-Uremic Syndrome; protein:increased expression:blood (human) |
RGD |
PMID:10603133 |
RGD:6909130 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Avpr2 |
arginine vasopressin receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7977526 |
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NCBI chr X:151,633,501...151,636,000
Ensembl chr X:151,633,522...151,635,989
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G |
Pomc |
proopiomelanocortin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6254450 |
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NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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G |
C3 |
complement C3 |
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ISO |
protein:increased processing:erythrocyte |
RGD |
PMID:6915939 |
RGD:11040769 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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G |
C5 |
complement C5 |
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ISO |
ClinVar Annotator: match by term: Eculizumab, poor response to |
OMIM ClinVar |
PMID:24521109 PMID:25741868 PMID:28492532 |
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NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
treatment |
ISO |
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RGD |
PMID:22206707 |
RGD:11352266 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISO |
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human) ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 PMID:9233558 PMID:9787183 PMID:10220445 PMID:15720958 PMID:16767100 PMID:12424196 More...
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RGD:11087560 |
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25417052 |
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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G |
RT1-Ba |
RT1 class II, locus Ba |
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ISO |
DNA:polymorphism, haplotype |
RGD |
PMID:12070003 |
RGD:11041765 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
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ISO |
DNA:polymorphism, haplotype |
RGD |
PMID:12070003 |
RGD:11041765 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Piga |
phosphatidylinositol glycan anchor biosynthesis, class A |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:31704190 PMID:32452540 PMID:34355501 |
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NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2 |
OMIM ClinVar |
PMID:23733340 PMID:25741868 PMID:28492532 |
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NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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G |
Pth |
parathyroid hormone |
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IEP |
protein:decreased expression:serum (rat) |
RGD |
PMID:22859939 |
RGD:8655928 |
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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G |
Amt |
aminomethyltransferase |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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G |
Ccdc71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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G |
Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Iho1 |
interactor of HORMAD1 1 |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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G |
Klhdc8b |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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G |
Lamb2 |
laminin subunit beta 2 |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 PMID:16097004 PMID:16199547 PMID:16898484 PMID:16912710 PMID:17256789 PMID:17576681 PMID:18594871 PMID:19251977 PMID:20507940 PMID:20556798 PMID:21236492 PMID:21763483 PMID:23349334 PMID:23595123 PMID:24033266 PMID:25741868 PMID:26108971 PMID:26239645 PMID:26248470 PMID:26467025 PMID:26467726 PMID:27858192 PMID:28476686 PMID:28492532 PMID:28780565 PMID:29127259 PMID:32860008 PMID:15367484 PMID:15367484 More...
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RGD:7207425, RGD:7207425 |
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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G |
LOC498675 |
hypothetical LOC498675 |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
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G |
LOC680045 |
hypothetical protein LOC680045 |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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G |
Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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G |
Rhoa |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Tcta |
T-cell leukemia translocation altered |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
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G |
Tns2 |
tensin 2 |
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ISS |
OMIM:609049 |
MouseDO |
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NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888
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G |
Usp4 |
ubiquitin specific peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Pierson syndrome |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
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G |
Aqp2 |
aquaporin 2 |
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IAGP |
protein:decreased expression:total kidney membrane fraction (rat) |
RGD |
PMID:10919858 |
RGD:2314654 |
NCBI chr 7:130,711,433...130,716,468
Ensembl chr 7:130,711,413...130,716,468
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G |
Avp |
arginine vasopressin |
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ISO IAGP |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:11012637 PMID:10919858 |
RGD:2314654 |
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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G |
Avpdi |
arginine vasopressin; diabetes insipidus mutant |
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IAGP |
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RGD |
PMID:10919858 |
RGD:2314654 |
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G |
Lep |
leptin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25086370 |
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NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Oxt |
oxytocin/neurophysin I prepropeptide |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20649851 |
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NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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G |
Prkca |
protein kinase C, alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25006961 |
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NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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G |
Ptges |
prostaglandin E synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19692487 |
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NCBI chr 3:14,177,892...14,189,236
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
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IAGP |
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RGD |
PMID:20323028 |
RGD:1354701 |
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a1j |
UDP glucuronosyltransferase family 1 member A1, jaundice mutant |
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IAGP |
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RGD |
PMID:20323028 |
RGD:1354701 |
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G |
Ace |
angiotensin I converting enzyme |
severity treatment |
ISO IMP |
associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human) associated with Acute Kidney Injury |
RGD |
PMID:10193250 PMID:10844603 |
RGD:11038828, RGD:12879396 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Add2 |
adducin 2 |
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ISO |
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RGD |
PMID:19838659 |
RGD:7174725 |
NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505
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G |
Add3 |
adducin 3 |
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IMP |
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RGD |
PMID:32029431 |
RGD:150340736 |
NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124
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G |
Ager |
advanced glycosylation end product-specific receptor |
susceptibility |
ISO |
associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human) |
RGD |
PMID:12606536 |
RGD:1566451 |
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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G |
Agt |
angiotensinogen |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:464098 PMID:2046802 PMID:9259580 PMID:12937228 PMID:17890855 PMID:25398788 More...
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NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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IMP ISO |
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17021606 PMID:20042458 |
RGD:6903284 |
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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G |
Alb |
albumin |
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ISO |
associated with hypertension CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:839733 PMID:1011057 PMID:7288527 PMID:7297036 PMID:10916085 PMID:12217854 PMID:14514721 PMID:16326737 PMID:18176075 PMID:8677191 More...
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RGD:1601158 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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G |
Alox5ap |
arachidonate 5-lipoxygenase activating protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12649539 |
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NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
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G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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IAGP |
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RGD |
PMID:7933831 |
RGD:1300446 |
NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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G |
Anks6PKD |
ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease |
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IAGP |
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RGD |
PMID:7933831 |
RGD:1300446 |
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G |
Apoe |
apolipoprotein E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20842518 |
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NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Proteinuria |
ClinVar |
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NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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G |
B2m |
beta-2 microglobulin |
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ISO |
protein:increased expression:urine CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:33857584 PMID:17634209 |
RGD:2311211 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
C6 |
complement C6 |
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IDA |
associated with Glomerulonephritis |
RGD |
PMID:2672823 |
RGD:1600682 |
NCBI chr 2:53,846,027...53,921,279
Ensembl chr 2:53,851,985...53,921,275
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G |
Cd55 |
CD55 molecule (Cromer blood group) |
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IMP |
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RGD |
PMID:12427125 |
RGD:2326179 |
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
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G |
Cd8a |
CD8a molecule |
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ISO |
associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse) |
RGD |
PMID:9713350 |
RGD:124715441 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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G |
Cfh |
complement factor H |
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IEP |
protein:altered expression:kidney: |
RGD |
PMID:22815489 |
RGD:7364901 |
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15719255 |
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NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Clcnkb |
chloride voltage-gated channel Kb |
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ISO |
ClinVar Annotator: match by term: Proteinuria |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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G |
Clu |
clusterin |
treatment |
IEP |
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RGD |
PMID:18274700 |
RGD:9068435 |
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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G |
Col4a3 |
collagen type IV alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Proteinuria |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:83,875,958...84,004,955
Ensembl chr 9:83,875,561...84,001,895
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G |
Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Proteinuria |
ClinVar |
PMID:25741868 |
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NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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G |
Ctsb |
cathepsin B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3669494 |
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NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsl |
cathepsin L |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3669494 |
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NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
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G |
Cxcl10 |
C-X-C motif chemokine ligand 10 |
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IMP |
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RGD |
PMID:16382022 |
RGD:2311386 |
NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975
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G |
Cybb |
cytochrome b-245 beta chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20116427 |
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NCBI chr X:13,360,583...13,392,517
Ensembl chr X:13,359,430...13,392,586
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G |
Dnase1 |
deoxyribonuclease 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22479529 |
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NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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G |
Dpp4 |
dipeptidylpeptidase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2880436 |
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NCBI chr 3:46,962,243...47,043,870
Ensembl chr 3:46,962,243...47,043,901
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G |
F7 |
coagulation factor VII |
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ISO |
associated with Diabetes Mellitus; protein:increased activity:plasma (human) |
RGD |
PMID:509177 |
RGD:2312414 |
NCBI chr16:76,489,779...76,500,636
Ensembl chr16:76,489,717...76,500,610
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G |
Fas |
Fas cell surface death receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26590112 PMID:33632240 |
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NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Gusb |
glucuronidase, beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2880436 |
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NCBI chr12:26,701,191...26,714,718
Ensembl chr12:26,697,951...26,726,905
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
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IEP ISO |
mRNA,protein:increased expression:kidney,urine CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19225054 PMID:16467126 |
RGD:7245980 |
NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
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G |
Hr |
HR, lysine demethylase and nuclear receptor corepressor |
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IMP |
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RGD |
PMID:21325752 |
RGD:150520024 |
NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
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G |
Icam1 |
intercellular adhesion molecule 1 |
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IEP |
associated with Hypertension;mRNA, protein:increased expression:kidney |
RGD |
PMID:22681549 |
RGD:8547734 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:3091246 PMID:8289579 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Il1rn |
interleukin 1 receptor antagonist |
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ISO |
associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human) CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:9370186 PMID:12138282 |
RGD:6909118 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il6 |
interleukin 6 |
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ISO |
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human) |
RGD |
PMID:19377212 |
RGD:2307194 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Inf2 |
inverted formin 2 |
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ISO |
ClinVar Annotator: match by term: Proteinuria |
ClinVar |
PMID:20023659 PMID:20803156 PMID:21258034 PMID:23014460 PMID:23515051 PMID:25165188 PMID:25407002 PMID:25741868 PMID:26467025 PMID:27350175 PMID:28492532 PMID:31937884 PMID:32604935 More...
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NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941
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G |
Lamb2 |
laminin subunit beta 2 |
|
IMP |
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RGD |
PMID:21511833 |
RGD:7207433 |
NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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G |
Lep |
leptin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25205467 |
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NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Lepr |
leptin receptor |
sexual_dimorphism |
IAGP IMP |
compared to BN compared to SS/JrHsdMcwi |
RGD |
PMID:20159938 PMID:27465994 |
RGD:7365117, RGD:12911217 |
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
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G |
Leprem2Mcwi |
leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin |
|
IMP |
compared to SS/JrHsdMcwi |
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