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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
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 |
Nphs2 |
NPHS2 stomatin family member, podocin |
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ISO |
ClinVar Annotator: match by term: Hereditary nephrotic syndrome |
ClinVar |
PMID:15954915 PMID:25741868 PMID:26467025 PMID:28492532 |
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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 |
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 |
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 chr10:10,346,538...10,356,768
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: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome |
ClinVar |
PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17699384 PMID:18823551 PMID:19145239 PMID:19876656 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:23349334 PMID:23515051 PMID:23645318 PMID:24227627 PMID:24509478 PMID:25349199 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:28492532 PMID:28658201 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30348286 PMID:32604935 PMID:33102883 PMID:33305316 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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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: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition |
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:27594755 PMID:28117080 PMID:28476686 PMID:28492532 PMID:29127259 PMID:30963316 PMID:31216994 PMID:33893808 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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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: Finnish congenital nephrotic syndrome | 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:12776285 PMID:14570703 PMID:14675423 PMID:14701729 PMID:14978175 PMID:15042551 PMID:15059485 PMID:15253708 PMID:15264208 PMID:15322893 PMID:15496146 PMID:15769810 PMID:15817495 PMID:15954915 PMID:16286890 PMID:16291839 PMID:16354237 PMID:16721582 PMID:16810518 PMID:16898497 PMID:16900088 PMID:17109732 PMID:17699384 PMID:17899208 PMID:17942957 PMID:18216321 PMID:18683072 PMID:18823551 PMID:19067903 PMID:19145239 PMID:19371226 PMID:19406966 PMID:19674119 PMID:19812541 PMID:19876656 PMID:20333530 PMID:20507940 PMID:20798252 PMID:20947785 PMID:21355056 PMID:21415313 PMID:22578956 PMID:23013956 PMID:23349334 PMID:23515051 PMID:23595123 PMID:23645318 PMID:24033266 PMID:24072147 PMID:24227627 PMID:24509478 PMID:24742477 PMID:25349199 PMID:25525159 PMID:25720465 PMID:25741868 PMID:26211502 PMID:26413278 PMID:26420286 PMID:26467025 PMID:26467726 PMID:27885584 PMID:28385484 PMID:28492532 PMID:28658201 PMID:28712774 PMID:28780565 PMID:29382718 PMID:29644057 PMID:29660491 PMID:29982877 PMID:30013592 PMID:30348286 PMID:30609409 PMID:30655312 PMID:32129207 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33305316 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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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | 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...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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G |
Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
PMID:22099579 PMID:25741868 PMID:27719739 |
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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 |
Emp2 |
epithelial membrane protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephrotic syndrome, type 10 |
OMIM CTD 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephrotic syndrome, type 11 |
OMIM CTD 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12 |
OMIM CTD 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephrotic syndrome, type 13 |
OMIM CTD 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:30517686 PMID:31130284 PMID:32233035 PMID:32860008 PMID:33074640 PMID:36873630 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 4:14,386,389...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:30179222 |
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NCBI chr10:100,825,427...100,843,422
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: NUP160-related condition | 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:14701729 PMID:14978175 PMID:15015071 PMID:15253708 PMID:15327385 PMID:15496146 PMID:15769810 PMID:15817495 PMID:16354237 PMID:16898497 PMID:17371932 PMID:17576681 PMID:17699384 PMID:17899208 PMID:18216321 PMID:18443213 PMID:18709391 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:25720465 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:30348286 PMID:30406062 PMID:30450462 PMID:30655312 PMID:31027891 PMID:31308032 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33305316 PMID:33532864 PMID:36167728 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 9:83,875,849...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:27942854 PMID:28492532 PMID:30212996 PMID:32581362 More...
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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: NPHS2-related condition | 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:18709391 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:23913389 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:25573908 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:30721404 PMID:31027891 PMID:31308032 PMID:31738409 PMID:32129207 PMID:32467597 PMID:32581362 PMID:32604935 PMID:33102883 PMID:33193607 PMID:33305316 PMID:33428103 PMID:33532864 PMID:34031707 PMID:34405919 PMID:34853150 PMID:36167728 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:22350371 PMID:24429398 PMID:24676634 PMID:25741868 PMID:27226968 PMID:28492532 PMID:31001663 PMID:33532864 PMID:35444690 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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Smarcal1 |
Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
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ISO |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 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 |
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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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:28492532 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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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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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 chr13:82,547,799...82,820,999
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: KIRREL1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 23 |
OMIM ClinVar |
PMID:25741868 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: DAAM2-related condition | 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: LAMA5-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 26 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29534211 PMID:29764427 PMID:32439764 PMID:35419533 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 |
Noc3l |
NOC3-like DNA replication regulator |
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ISO |
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 |
ClinVar |
PMID:17086182 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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition |
OMIM CTD ClinVar |
PMID:17086182 PMID:18709391 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 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8810912 PMID:9090524 PMID:9108089 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 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:20562648 PMID:21125408 PMID:21499692 PMID:21508141 PMID:21851196 PMID:22099579 PMID:22172722 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:26248470 PMID:26358501 PMID:26467025 PMID:26725263 PMID:26882358 PMID:27013732 PMID:27300205 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:29668062 PMID:30406062 PMID:30655312 PMID:30721404 PMID:30963316 PMID:31937884 PMID:32352694 PMID:32581362 PMID:32604935 PMID:33226606 PMID:34386660 PMID:34490048 PMID:38054408 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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Lamb2 |
laminin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities | ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities |
OMIM CTD ClinVar |
PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 PMID:16097004 PMID:16199547 PMID:16912710 PMID:17256789 PMID:17576681 PMID:18594871 PMID:18672223 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:28780565 PMID:29127259 PMID:30295827 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 |
Ppp2r5d |
protein phosphatase 2, regulatory subunit B', delta |
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ISO |
ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities |
ClinVar |
PMID:25741868 PMID:30676711 PMID:32295525 |
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NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400
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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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Ptpro |
protein tyrosine phosphatase, receptor type, O |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephrotic syndrome, type 6 |
OMIM CTD 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: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 PMID:25741868 PMID:25854283 PMID:28056875 PMID:28492532 PMID:28496993 PMID:29127259 PMID:29590070 More...
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NCBI chr10:73,853,030...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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Nephrotic syndrome, type 8 |
OMIM CTD ClinVar |
PMID:23867502 PMID:25741868 PMID:25741905 PMID:28492532 |
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:24270420 PMID:25741868 PMID:28204945 PMID:28337616 PMID:28405841 PMID:28454995 PMID:28492532 PMID:29194833 PMID:29382012 PMID:30076350 PMID:31130284 PMID:31937884 PMID:32543055 PMID:32604935 PMID:32859164 PMID:32957916 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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