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G |
AXDND1 |
axonemal dynein light chain domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735
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G |
KIRREL2 |
kirre like nephrin family adhesion molecule 2 |
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IAGP |
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 chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital nephrotic syndrome ClinVar Annotator: match by term: Familial nephrotic syndrome |
CTD ClinVar |
PMID:9915943 PMID:10652016 PMID:10792613 PMID:11012881 PMID:11317351 PMID:11854170 PMID:12039988 PMID:12324903 PMID:12495287 PMID:12631336 PMID:15086927 PMID:15338398 PMID:15968559 PMID:16199547 PMID:16316524 PMID:17211152 PMID:17371932 PMID:18436095 PMID:18443213 PMID:19321760 PMID:19406966 PMID:19808243 PMID:19812541 PMID:20172850 PMID:20507940 PMID:20798252 PMID:20981092 PMID:21228398 PMID:22565185 PMID:22995991 PMID:23349334 PMID:23595123 PMID:24130771 PMID:24142548 PMID:24371179 PMID:24472419 PMID:24948143 PMID:25349199 PMID:25741868 PMID:25804400 PMID:26248470 PMID:26346198 PMID:26467025 PMID:26560236 PMID:26668027 PMID:26764160 PMID:27019444 PMID:27312921 PMID:27535533 PMID:27884173 PMID:28012006 PMID:28117080 PMID:28476686 PMID:28492532 PMID:28724397 PMID:30013592 PMID:31216994 PMID:31738409 PMID:32581362 More...
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NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
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IAGP |
ClinVar Annotator: match by term: Hereditary nephrotic syndrome |
ClinVar |
PMID:15954915 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
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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 chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
PMID:12384774 PMID:25741868 PMID:28492532 |
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NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
ALG1 |
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase |
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IAGP |
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 chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379
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G |
ARHGDIA |
Rho GDP dissociation inhibitor alpha |
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IAGP |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
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G |
AXDND1 |
axonemal dynein light chain domain containing 1 |
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IAGP |
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 chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735
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G |
CCL11 |
C-C motif chemokine ligand 11 |
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IEP |
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RGD |
PMID:9892814 |
RGD:7248412 |
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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G |
FAT1 |
FAT atypical cadherin 1 |
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IAGP |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
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NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
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G |
KIRREL2 |
kirre like nephrin family adhesion molecule 2 |
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IAGP |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 |
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 chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136
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G |
LOC126807255 |
BRD4-independent group 4 enhancer GRCh37_chr4:187538202-187539401 |
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IAGP |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
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NCBI chr 4:186,617,048...186,618,247
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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IAGP |
DNA:mutations:multiple (human) |
RGD |
PMID:11317351 |
RGD:737766 |
NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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IAGP |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar Annotator: match by term: NPHS1-related condition ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 |
OMIM ClinVar |
PMID:2656023 PMID:9536098 PMID:9543371 PMID:9660941 PMID:9915943 PMID:10577936 PMID:10652016 PMID:10972661 PMID:11317351 PMID:11562357 PMID:11726550 PMID:11854170 PMID:12039988 PMID:12324903 PMID:12495287 PMID:12631336 PMID:12707396 PMID:14570703 PMID:15086927 PMID:15213260 PMID:15338398 PMID:15496146 PMID:15780077 PMID:15906409 PMID:15968559 PMID:16199547 PMID:16316524 PMID:16518627 PMID:16703378 PMID:17211152 PMID:17290294 PMID:17371932 PMID:17413422 PMID:17576681 PMID:18436095 PMID:18443213 PMID:18503012 PMID:18614772 PMID:18709391 PMID:19194555 PMID:19321760 PMID:19406966 PMID:19423745 PMID:19443487 PMID:19808243 PMID:19812541 PMID:20172850 PMID:20507940 PMID:20798252 PMID:20852892 PMID:20981092 PMID:21125408 PMID:21228398 PMID:21415313 PMID:21672106 PMID:22009864 PMID:22099579 PMID:22565185 PMID:22584503 PMID:22732337 PMID:22995991 PMID:23349334 PMID:23595123 PMID:23932794 PMID:23949594 PMID:24130771 PMID:24142548 PMID:24303155 PMID:24371179 PMID:24397250 PMID:24472419 PMID:24498843 PMID:24682440 PMID:24742477 PMID:24902943 PMID:24948143 PMID:25349199 PMID:25407002 PMID:25501161 PMID:25525159 PMID:25533962 PMID:25720465 PMID:25729976 PMID:25741868 PMID:25741905 PMID:25804400 PMID:25903641 PMID:26248470 PMID:26346198 PMID:26467025 PMID:26560236 PMID:26668027 PMID:26764160 PMID:26990548 PMID:27019444 PMID:27312921 PMID:27325253 PMID:27535533 PMID:27594755 PMID:27882743 PMID:27884173 PMID:28012006 PMID:28117080 PMID:28160156 PMID:28204945 PMID:28392951 PMID:28476686 PMID:28492532 PMID:28658201 PMID:28780565 PMID:28921387 PMID:29127259 PMID:29474669 PMID:29676031 PMID:29869118 PMID:30013592 PMID:30212551 PMID:30215773 PMID:30295827 PMID:30594156 PMID:30655312 PMID:30721404 PMID:30863911 PMID:30963316 PMID:31216994 PMID:31328266 PMID:31456999 PMID:31587616 PMID:31655822 PMID:31738409 PMID:31788464 PMID:31937884 PMID:32581362 PMID:32604935 PMID:32860008 PMID:33216373 PMID:33591954 PMID:33893808 PMID:33980730 PMID:34247820 PMID:34859019 PMID:34900253 More...
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NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
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IAGP |
ClinVar Annotator: match by term: Idiopathic nephrotic syndrome ClinVar Annotator: match by term: Finnish congenital 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 chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
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G |
PROS1 |
protein S |
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IAGP |
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 chr 3:93,873,051...93,973,896
Ensembl chr 3:93,873,051...93,980,003
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G |
SPINK1 |
serine peptidase inhibitor Kazal type 1 |
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IAGP |
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 chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
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G |
TTC21B |
tetratricopeptide repeat domain 21B |
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IAGP |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 |
ClinVar |
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
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NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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G |
TTC21B-AS1 |
TTC21B antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 |
ClinVar |
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
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NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891
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G |
WT1 |
WT1 transcription factor |
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IAGP |
ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome |
ClinVar |
PMID:22099579 PMID:25741868 PMID:27719739 |
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NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
EMP2 |
epithelial membrane protein 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 10 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24814193 PMID:25741868 PMID:28492532 |
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NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632
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G |
NUP107 |
nucleoporin 107 |
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IAGP EXP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 11 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222 |
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NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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G |
NUP93 |
nucleoporin 93 |
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IAGP EXP |
ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864 |
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NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
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G |
NUP205 |
nucleoporin 205 |
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IAGP EXP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 13 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:25741868 PMID:26878725 PMID:28492532 |
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NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757
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G |
SGPL1 |
sphingosine-1-phosphate lyase 1 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome 14 |
ClinVar OMIM |
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 chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816
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G |
LOC129998720 |
ATAC-STARR-seq lymphoblastoid silent region 18332 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome 15 |
ClinVar |
PMID:25741868 |
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G |
MAGI2 |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
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IAGP |
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 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667
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G |
MAGI2-AS3 |
MAGI2 antisense RNA 3 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome 15 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 |
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NCBI chr 7:79,452,957...79,471,208
Ensembl chr 7:79,452,877...79,471,208
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G |
KANK2 |
KN motif and ankyrin repeat domains 2 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome 16 |
OMIM ClinVar |
PMID:25741868 PMID:25961457 PMID:28492532 |
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NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791
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G |
GGA3 |
golgi associated, gamma adaptin ear containing, ARF binding protein 3 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 17 |
ClinVar |
PMID:25741868 PMID:30179222 |
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NCBI chr17:75,236,599...75,262,363
Ensembl chr17:75,236,599...75,262,363
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G |
NUP85 |
nucleoporin 85 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 17 |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:30179222 |
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NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
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G |
NUP133 |
nucleoporin 133 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 18 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30179222 |
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NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
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G |
LOC130005685 |
ATAC-STARR-seq lymphoblastoid active region 4704 |
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IAGP |
ClinVar Annotator: match by term: NUP160-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:47,848,288...47,848,847
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G |
NUP160 |
nucleoporin 160 |
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IAGP |
ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30179222 |
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NCBI chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555
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G |
ANXA5 |
annexin A5 |
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IEP |
protein:increased expression:urine |
RGD |
PMID:17999093 |
RGD:7242031 |
NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
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G |
APOL1 |
apolipoprotein L1 |
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IAGP |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 PMID:24206458 PMID:25741868 PMID:25788523 PMID:28492532 PMID:30332315 PMID:30340464 PMID:32581362 PMID:32675303 More...
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NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
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G |
AVIL |
advillin |
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IAGP |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734
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G |
AXDND1 |
axonemal dynein light chain domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to |
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 chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735
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COL4A3 |
collagen type IV alpha 3 chain |
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IAGP |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
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G |
COL4A4 |
collagen type IV alpha 4 chain |
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IAGP |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453
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G |
COL4A5 |
collagen type IV alpha 5 chain |
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IAGP |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:32581362 |
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NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545
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G |
CRB2 |
crumbs cell polarity complex component 2 |
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IAGP |
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 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
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G |
MFF-DT |
MFF divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
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IAGP |
ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome |
ClinVar |
PMID:15086927 PMID:15968559 PMID:17211152 PMID:25741868 PMID:28476686 PMID:28492532 More...
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NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
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IAGP EXP |
ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to 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:24596097 PMID:24715228 PMID:24742477 PMID:24856380 PMID:24969201 PMID:25060053 PMID:25349199 PMID:25525159 PMID:25573908 PMID:25599733 PMID:25720465 PMID:25741868 PMID:25741914 PMID:25741915 PMID:25741916 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 chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
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NR3C1 |
nuclear receptor subfamily 3 group C member 1 |
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IEP |
mRNA:alternative form:blood, mononuclear cell |
RGD |
PMID:20419394 |
RGD:7174729 |
NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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G |
NUP205 |
nucleoporin 205 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757
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G |
NUP93 |
nucleoporin 93 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
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G |
PAX2 |
paired box 2 |
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IAGP |
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 chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
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G |
PLA2G7 |
phospholipase A2 group VII |
disease_progression |
IAGP |
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RGD |
PMID:9853251 |
RGD:7248793 |
NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693
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G |
PLCE1 |
phospholipase C epsilon 1 |
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IAGP |
DNA:mutations: : |
RGD |
PMID:20591883 |
RGD:7257521 |
NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
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G |
SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
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IAGP |
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 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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G |
TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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IAGP |
DNA:missense mutations, SNPs:exon, intron:multiple |
RGD |
PMID:21511817 |
RGD:7247446 |
NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
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G |
TSFM |
Ts translation elongation factor, mitochondrial |
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IAGP |
ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome |
ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071
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G |
WT1 |
WT1 transcription factor |
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IAGP |
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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
XPO5 |
exportin 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26878725 |
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NCBI chr 6:43,522,334...43,576,038
Ensembl chr 6:43,522,334...43,576,038
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G |
TBC1D8B |
TBC1 domain family member 8B |
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IAGP |
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:106,802,673...106,876,150
Ensembl chr X:106,802,673...106,876,150
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AVIL |
advillin |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 21 |
OMIM ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734
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G |
TSFM |
Ts translation elongation factor, mitochondrial |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 21 |
ClinVar |
PMID:25741868 PMID:29058690 |
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NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071
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NOS1AP |
nitric oxide synthase 1 adaptor protein |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 22 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33523862 |
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NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475
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G |
KIRREL1 |
kirre like nephrin family adhesion molecule 1 |
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IAGP |
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 1:157,993,645...158,100,262
Ensembl chr 1:157,993,273...158,100,262
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G |
LOC126805884 |
BRD4-independent group 4 enhancer GRCh37_chr1:158063276-158064475 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 23 |
ClinVar |
PMID:25741868 PMID:31472902 |
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NCBI chr 1:158,093,486...158,094,685
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G |
DAAM2 |
dishevelled associated activator of morphogenesis 2 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 24 ClinVar Annotator: match by term: DAAM2-related condition ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:33232676 |
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NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877
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G |
DAAM2-AS1 |
DAAM2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 24 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:39,888,790...39,897,380
Ensembl chr 6:39,881,804...39,900,071
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G |
LAMA5 |
laminin subunit alpha 5 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 26 ClinVar Annotator: match by term: LAMA5-related condition 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:29706646 PMID:29764427 PMID:32439764 PMID:35419533 More...
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NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312
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G |
LAMA5-AS1 |
LAMA5 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: LAMA5-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:62,353,010...62,356,480
Ensembl chr20:62,352,970...62,356,480
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G |
LOC130066305 |
ATAC-STARR-seq lymphoblastoid silent region 13109 |
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IAGP |
ClinVar Annotator: match by term: LAMA5-related condition |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:62,366,996...62,367,435
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G |
LOC130004381 |
ATAC-STARR-seq lymphoblastoid silent region 2632 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 |
ClinVar |
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NCBI chr10:93,993,745...93,994,034
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G |
NOC3L |
NOC3 like DNA replication regulator |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition |
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 chr10:94,314,907...94,362,939
Ensembl chr10:94,333,226...94,362,959
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G |
PLCE1 |
phospholipase C epsilon 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
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G |
PLCE1-AS1 |
PLCE1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 |
ClinVar |
PMID:17086182 PMID:22865593 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr10:94,279,290...94,287,070
Ensembl chr10:94,278,681...94,287,478
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G |
PLCE1-AS2 |
PLCE1 antisense RNA 2 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 3 |
ClinVar |
PMID:25741868 |
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NCBI chr10:94,081,950...94,108,794
Ensembl chr10:94,081,950...94,108,814
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G |
LOC107982234 |
WT1/WT1-AS bi-directional promoter region |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 4 |
ClinVar |
PMID:15266301 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:25110071 PMID:25741868 PMID:25932436 PMID:26467025 PMID:26725263 PMID:28492532 PMID:38054408 More...
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NCBI chr11:32,430,169...32,437,423
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WT1 |
WT1 transcription factor |
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IAGP EXP |
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 chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
LAMB2 |
laminin subunit beta 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities 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 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
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G |
LOC129936738 |
ATAC-STARR-seq lymphoblastoid active region 19855 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities |
ClinVar |
PMID:25741868 PMID:28492532 |
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G |
PPP2R5D |
protein phosphatase 2 regulatory subunit B'delta |
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IAGP |
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 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
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G |
RPE65 |
retinoid isomerohydrolase RPE65 |
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IAGP |
ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities |
ClinVar |
PMID:20811047 PMID:25741868 PMID:28130426 PMID:28492532 PMID:29332120 PMID:30025081 PMID:30268864 PMID:30653986 PMID:30924848 PMID:32295525 PMID:33308271 PMID:34492281 More...
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NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954
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G |
SERPINA10 |
serpin family A member 10 |
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IAGP |
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 chr14:94,280,460...94,293,268
Ensembl chr14:94,280,460...94,293,268
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G |
LOC126861467 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15678492-15679691 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 6 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:15,525,558...15,526,757
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G |
PTPRO |
protein tyrosine phosphatase receptor type O |
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IAGP EXP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 6 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21722858 PMID:25741868 PMID:28492532 |
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NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175
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G |
DGKE |
diacylglycerol kinase epsilon |
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IAGP EXP |
ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7 ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 PMID:25443527 PMID:25741868 PMID:25741909 PMID:25854283 PMID:28056875 PMID:28492532 PMID:28496993 PMID:28526779 PMID:29127259 PMID:29590070 More...
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NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567
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G |
ARHGDIA |
Rho GDP dissociation inhibitor alpha |
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IAGP EXP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 8 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:23867502 PMID:25741868 PMID:25741905 PMID:28492532 |
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NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
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G |
LOC130061973 |
ATAC-STARR-seq lymphoblastoid silent region 9158 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 8 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:81,869,405...81,869,614
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G |
LOC130061974 |
ATAC-STARR-seq lymphoblastoid active region 12981 |
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IAGP |
ClinVar Annotator: match by term: Nephrotic syndrome, type 8 |
ClinVar |
PMID:25741905 |
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NCBI chr17:81,869,745...81,869,924
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G |
COQ8B |
coenzyme Q8B |
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IAGP EXP |
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:25741916 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 chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
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