|
G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23793029 |
|
NCBI chr 5:66,104,770...66,146,186
|
|
G |
Arl13b |
ARF like GTPase 13B |
|
ISO |
|
RGD |
PMID:27153923 |
RGD:11553938 |
NCBI chr11:13,597,538...13,663,681
|
|
G |
Bicc1 |
BicC family RNA binding protein 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr20:17,449,639...17,686,775
|
|
G |
Cep290 |
centrosomal protein 290 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 7:37,196,765...37,285,955
|
|
G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 |
|
NCBI chr11:91,656,334...91,672,800
|
|
G |
Dnm2 |
dynamin 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:28,254,344...28,336,297
|
|
G |
Ephb4 |
EPH receptor B4 |
|
ISS |
|
MouseDO |
|
|
NCBI chr12:24,963,174...24,988,473
|
|
G |
Fat4 |
FAT atypical cadherin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18604206 |
|
NCBI chr 2:121,927,266...122,056,700
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:16199547 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26968735 PMID:28492532 PMID:31589614 PMID:31630094 PMID:31736247 PMID:31964843 PMID:31980526 PMID:32037395 PMID:34890546 PMID:34906470 PMID:35649421 More...
|
|
NCBI chr10:14,537,134...14,624,926
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17468754 |
|
NCBI chr 2:155,455,773...155,550,082
|
|
G |
Ins2 |
insulin 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9879822 |
|
NCBI chr 1:207,272,738...207,421,998
|
|
G |
Invs |
inversin |
|
ISO |
|
RGD |
PMID:24586938 |
RGD:155794377 |
NCBI chr 5:67,406,511...67,559,355
|
|
G |
Lama5 |
laminin subunit alpha 5 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 3:167,270,296...167,318,370
|
|
G |
Nek8 |
NIMA-related kinase 8 |
|
ISO |
ClinVar Annotator: match by term: Familial cystic renal disease |
ClinVar |
PMID:25741868 PMID:26967905 PMID:28492532 PMID:32574212 PMID:36215968 PMID:37598857 More...
|
|
NCBI chr10:63,558,940...63,570,954
|
|
G |
Nphp3 |
nephrocystin 3 |
|
ISO |
DNA:missense mutation: :p.I614S (mouse) |
RGD |
PMID:18371931 |
RGD:11352488 |
NCBI chr 8:113,500,708...113,541,179
|
|
G |
Pax2 |
paired box 2 |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
|
|
NCBI chr 1:243,616,509...243,697,454
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:11115377 PMID:11967008 PMID:19515475 PMID:22508176 PMID:25741868 PMID:26467025 More...
|
|
NCBI chr10:13,573,779...13,621,138
|
|
G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 PMID:27225849 PMID:28492532 |
|
NCBI chr 9:30,040,466...30,533,834
|
|
G |
Robo1 |
roundabout guidance receptor 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr11:24,067,869...25,108,694
|
|
G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
associated with Meckel Syndrome, Type 5;DNA:mutations:exons: |
RGD |
PMID:17558409 |
RGD:11073359 |
NCBI chr19:31,865,050...31,957,930
|
|
G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20835237 |
|
NCBI chr13:88,754,521...88,979,363
|
|
G |
Slit2 |
slit guidance ligand 2 |
|
ISS |
|
MouseDO |
|
|
NCBI chr14:66,829,661...67,168,517
|
|
G |
Tmem67 |
transmembrane protein 67 |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cystic kidney disease |
CTD MouseDO ClinVar |
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 More...
|
|
NCBI chr 5:30,333,793...30,386,702
|
|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISS |
|
MouseDO |
|
|
NCBI chr 3:71,269,425...71,343,936
|
|
G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:146,772,483...146,779,376
|
|
|
G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:89,006,056...89,132,915
|
|
G |
Angpt2 |
angiopoietin 2 |
|
IEP |
protein:increased expression:bile duct (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr16:71,088,364...71,138,805
|
|
G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089381 |
|
NCBI chr 5:66,104,770...66,146,186
|
|
G |
Bicc1 |
BicC family RNA binding protein 1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr20:17,449,639...17,686,775
|
|
G |
Brd4 |
bromodomain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25877301 |
|
NCBI chr 7:11,866,997...11,946,575
|
|
G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,498,726...13,500,259
|
|
G |
C9 |
complement C9 |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr 2:57,300,510...57,348,759
|
|
G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,512,684...13,533,380
|
|
G |
Cd14 |
CD14 molecule |
disease_progression |
ISO |
protein:altered localization:kidney,urine |
RGD |
PMID:20555320 |
RGD:7204130 |
NCBI chr18:28,609,558...28,611,409
|
|
G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
IEP |
protein:decreased expression:kidney |
RGD |
PMID:17714589 |
RGD:2289666 |
NCBI chr20:7,150,820...7,161,373
|
|
G |
Cfb |
complement factor B |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr20:3,970,643...3,976,510
|
|
G |
Dkk3 |
dickkopf WNT signaling pathway inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:175,672,834...175,715,867
|
|
G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:5,833,111...5,867,154
|
|
G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
|
|
NCBI chr11:91,656,334...91,672,800
|
|
G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,471,850...13,473,447
|
|
G |
Dspp |
dentin sialophosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:5,870,232...5,876,339
|
|
G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,978,975...13,999,646
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
mRNA, protein:increased expression:kidney (human) |
RGD |
PMID:12629276 |
RGD:4144854 |
NCBI chr17:22,660,799...22,666,687
|
|
G |
Fam13a |
family with sequence similarity 13, member A |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:88,056,521...88,155,782
|
|
G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
protein: increased expression: kidney |
RGD |
PMID:16049073 |
RGD:7242198 |
NCBI chr 6:110,852,188...110,855,054
|
|
G |
Ganab |
glucosidase II alpha subunit |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
|
|
NCBI chr 1:215,222,918...215,242,808
|
|
G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
|
ISO |
mRNA,protein:increased expression: cholangiocyte |
RGD |
PMID:28543567 |
RGD:14700993 |
NCBI chr 9:75,860,758...75,863,260
|
|
G |
Gprin3 |
GPRIN family member 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:88,572,062...88,657,369
|
|
G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
protein:increased expression:kidney: |
RGD |
PMID:12388382 |
RGD:7245969 |
NCBI chr10:31,118,667...31,151,730
|
|
G |
Herc3 |
HECT and RLD domain containing E3 ubiquitin protein ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:87,952,202...88,042,492
|
|
G |
Herc6 |
HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:87,524,470...87,566,895
|
|
G |
Hsd17b11 |
hydroxysteroid (17-beta) dehydrogenase 11 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,693,304...5,743,157
|
|
G |
Hsd17b13 |
hydroxysteroid (17-beta) dehydrogenase 13 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,751,697...5,766,809
|
|
G |
Ibsp |
integrin-binding sialoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:5,439,825...5,452,570
|
|
G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:16199547 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26968735 PMID:28492532 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32037395 PMID:34890546 PMID:35649421 More...
|
|
NCBI chr10:14,537,134...14,624,926
|
|
G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:decreased expression:urine (human) |
RGD |
PMID:9090470 |
RGD:6909172 |
NCBI chr 3:27,509,836...27,525,738
|
|
G |
Itga8 |
integrin subunit alpha 8 |
|
ISO |
mRNA:increased expression:kidney |
RGD |
PMID:18277079 |
RGD:7257723 |
NCBI chr17:75,304,004...75,501,510
|
|
G |
Klhl8 |
kelch-like family member 8 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,807,795...5,853,325
|
|
G |
Lcn2 |
lipocalin 2 |
disease_progression |
ISO |
protein:increased expression:serum, urine |
RGD |
PMID:20921623 PMID:22258321 |
RGD:126781837, RGD:126790531 |
NCBI chr 3:36,078,432...36,081,851
|
|
G |
Lrp2 |
LDL receptor related protein 2 |
|
IEP |
|
RGD |
PMID:11841627 |
RGD:1641842 |
NCBI chr 3:54,189,305...54,346,769
|
|
G |
Lrp5 |
LDL receptor related protein 5 |
susceptibility |
IAGP ISO |
DNA:missense mutation:cds:multiple mutations (human) ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:25920554 |
RGD:11553546 |
NCBI chr 1:200,814,247...200,917,581
|
|
G |
Lrp6 |
LDL receptor related protein 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:167,269,856...167,400,364
|
|
G |
Mepe |
matrix extracellular phosphoglycoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:5,420,634...5,432,186
|
|
G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,498,377...13,504,128
|
|
G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10644865 |
RGD:7207194 |
NCBI chr 8:12,943,453...12,963,966
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:10644865 |
RGD:7207194 |
NCBI chr 3:174,103,474...174,111,434
|
|
G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:23195001 |
RGD:7245504 |
NCBI chr 5:164,167,985...164,277,438
|
|
G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO ISS |
mRNA:increased expression:kidney (mouse) CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:25877301 PMID:18356167 |
RGD:7207457 |
NCBI chr 7:95,483,105...95,488,031
|
|
G |
Nap1l5 |
nucleosome assembly protein 1-like 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:88,022,670...88,024,988
|
|
G |
Nphp3 |
nephrocystin 3 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 8:113,500,708...113,541,179
|
|
G |
Nudt9 |
nudix hydrolase 9 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr14:5,675,376...5,693,332
|
|
G |
Onecut2 |
one cut homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
|
|
NCBI chr18:57,831,647...57,890,884
|
|
G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr10:13,999,782...14,002,408
|
|
G |
Pigy |
phosphatidylinositol glycan anchor biosynthesis, class Y |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:20,689,621...20,691,863
|
|
G |
Pitx2 |
paired-like homeodomain 2 |
|
IEP |
mRNA:increased expression:kidney |
RGD |
PMID:20926632 |
RGD:5131995 |
NCBI chr 2:220,391,417...220,411,588
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
severity |
ISO |
DNA:mutations:exons, intron:multiple ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R3277C (mouse) DNA:mutations:multiple |
ClinVar CTD RGD |
PMID:7581371 PMID:8004675 PMID:8845849 PMID:9199561 PMID:9285784 PMID:9521593 PMID:10200984 PMID:10364515 PMID:10854095 PMID:10923038 PMID:10987650 PMID:11058904 PMID:11115377 PMID:11216660 PMID:11840199 PMID:11857740 PMID:11941481 PMID:11967008 PMID:12070253 PMID:12089381 PMID:12482949 PMID:15772804 PMID:16430766 PMID:17574468 PMID:17582161 PMID:18077784 PMID:18640754 PMID:18791038 PMID:18837007 PMID:19165178 PMID:19401297 PMID:19515475 PMID:20301424 PMID:20558538 PMID:20950398 PMID:20981092 PMID:21115670 PMID:22008521 PMID:22090377 PMID:22333914 PMID:22383692 PMID:22508176 PMID:22608885 PMID:23064367 PMID:23266634 PMID:23300259 PMID:23383103 PMID:23431072 PMID:23760289 PMID:23985799 PMID:24033266 PMID:24374109 PMID:24611717 PMID:24694054 PMID:25029430 PMID:25333066 PMID:25475747 PMID:25646624 PMID:25741868 PMID:25877301 PMID:26139440 PMID:26453610 PMID:26467025 PMID:26632257 PMID:26661679 PMID:26823553 PMID:26950445 PMID:27165007 PMID:27499327 PMID:27567292 PMID:27782177 PMID:27835667 PMID:27884173 PMID:27894351 PMID:28378423 PMID:28522688 PMID:28815929 PMID:28887310 PMID:29038287 PMID:29270497 PMID:29520754 PMID:29529603 PMID:29633482 PMID:29650765 PMID:29801666 PMID:30333007 PMID:30369598 PMID:30413633 PMID:30586318 PMID:30816285 PMID:31027891 PMID:31056860 PMID:31157564 PMID:31738409 PMID:31740684 PMID:32165824 PMID:32203225 PMID:32381729 PMID:32457805 PMID:32816041 PMID:33102977 PMID:33168999 PMID:33226606 PMID:33315352 PMID:33437033 PMID:33437386 PMID:33454723 PMID:33532864 PMID:33555573 PMID:33939064 PMID:34974531 PMID:35778421 PMID:36646975 PMID:37419908 PMID:38177409 PMID:8554072 PMID:23064367 PMID:21115670 More...
|
RGD:1601399, RGD:7175280, RGD:7175279 |
NCBI chr10:13,573,779...13,621,138
|
|
G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
onset |
ISO ISS |
DNA:mutations:multiple ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:8650545 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 PMID:9773786 PMID:9949210 PMID:10405208 PMID:10411676 PMID:10417277 PMID:10497221 PMID:10541293 PMID:10648666 PMID:10655555 PMID:10760080 PMID:10835625 PMID:11007674 PMID:11967008 PMID:11968093 PMID:12089381 PMID:12707387 PMID:12842373 PMID:14993477 PMID:15001556 PMID:15108213 PMID:15192819 PMID:15772804 PMID:15775720 PMID:16199547 PMID:16223735 PMID:16430766 PMID:16540757 PMID:17100995 PMID:17303584 PMID:17574468 PMID:17576681 PMID:17582161 PMID:17699277 PMID:18178578 PMID:18257781 PMID:18664456 PMID:18837007 PMID:19158373 PMID:19491093 PMID:19556541 PMID:19936001 PMID:20168298 PMID:20177400 PMID:20439752 PMID:20881056 PMID:20950398 PMID:21115670 PMID:21551026 PMID:22008521 PMID:22034641 PMID:22114106 PMID:22185115 PMID:22367170 PMID:22383692 PMID:22508176 PMID:22797899 PMID:22863349 PMID:22995991 PMID:23300259 PMID:23376035 PMID:24113780 PMID:24374109 PMID:24611717 PMID:24658975 PMID:24719335 PMID:25149526 PMID:25333066 PMID:25491204 PMID:25574838 PMID:25646624 PMID:25741868 PMID:25877301 PMID:26453610 PMID:26467025 PMID:26489027 PMID:26692149 PMID:26920127 PMID:26950445 PMID:27071085 PMID:27165007 PMID:27401137 PMID:27499327 PMID:27567292 PMID:27768895 PMID:27782177 PMID:27884173 PMID:27894351 PMID:27991905 PMID:28356211 PMID:28492532 PMID:28522688 PMID:28887310 PMID:29038287 PMID:29321346 PMID:29338003 PMID:29378535 PMID:29520754 PMID:29529603 PMID:29633482 PMID:30042192 PMID:30333007 PMID:30369598 PMID:30476936 PMID:30586318 PMID:30639418 PMID:30816285 PMID:30820006 PMID:30883612 PMID:30989420 PMID:31056860 PMID:31317121 PMID:31488014 PMID:31514750 PMID:31589614 PMID:31740684 PMID:31948117 PMID:31979107 PMID:32332171 PMID:32384474 PMID:32457805 PMID:32816041 PMID:32970388 PMID:33095447 PMID:33168999 PMID:33315352 PMID:33437033 PMID:33454723 PMID:33532864 PMID:33569422 PMID:33639313 PMID:33964006 PMID:34101167 PMID:34716216 PMID:34732400 PMID:34733539 PMID:35497784 PMID:35778421 PMID:36186434 PMID:36938073 PMID:36938085 PMID:22863349 PMID:21115670 More...
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RGD:7175273, RGD:7175279 |
NCBI chr14:5,541,821...5,585,140
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 |
ClinVar |
PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:14971004 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16199547 PMID:16523049 PMID:16876319 PMID:17576681 PMID:18414213 PMID:18503009 PMID:19021639 PMID:19176689 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20301501 PMID:20413436 PMID:20460933 PMID:21228398 PMID:21274727 PMID:21407107 PMID:21493627 PMID:21945273 PMID:22034641 PMID:22415584 PMID:23389334 PMID:23582048 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25034658 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25771912 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26673778 PMID:26695994 PMID:26721323 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27752906 PMID:27894351 PMID:28170084 PMID:28252636 PMID:28364132 PMID:28375157 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:29068549 PMID:29095814 PMID:29643536 PMID:29801666 PMID:29956005 PMID:30260789 PMID:30275481 PMID:30507656 PMID:30586318 PMID:30595564 PMID:30650191 PMID:30773290 PMID:30787879 PMID:31010483 PMID:31130284 PMID:31308072 PMID:31328266 PMID:31395617 PMID:31589614 PMID:31730820 PMID:31738409 PMID:31844813 PMID:31980526 PMID:32203225 PMID:32359821 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:32939031 PMID:33059616 PMID:33059727 PMID:33112055 PMID:33123899 PMID:33226606 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33569422 PMID:33716212 PMID:33742171 PMID:33774617 PMID:33845788 PMID:33940108 PMID:34008892 PMID:34405919 PMID:34426522 PMID:34487536 PMID:34536170 PMID:35372954 PMID:35373060 PMID:35715958 PMID:35812281 PMID:36307859 PMID:36703223 PMID:38057357 PMID:38374194 More...
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NCBI chr 9:30,040,466...30,533,834
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20210794 |
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NCBI chr 4:150,095,743...150,221,104
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G |
Ppm1k |
protein phosphatase, Mg2+/Mn2+ dependent, 1K |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:87,612,198...87,638,993
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G |
Pyurf |
PIGY upstream open reading frame |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:87,501,859...87,505,494
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G |
Rab26 |
RAB26, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,553,395...13,558,063
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
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IEP |
protein:increased expression, increased activity:kidney |
RGD |
PMID:16221708 |
RGD:1643017 |
NCBI chr10:71,817,794...71,865,211
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G |
Serping1 |
serpin family G member 1 |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chr 3:90,249,410...90,259,299
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G |
Slc34a1 |
solute carrier family 34 member 1 |
disease_progression |
IEP |
mRNA, protein:altered expression:renal cortex (rat) |
RGD |
PMID:11004225 |
RGD:7242933 |
NCBI chr17:9,224,010...9,238,983
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G |
Snca |
synuclein alpha |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:91,026,474...91,127,444
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G |
Sparcl1 |
SPARC like 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,632,816...5,663,866
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G |
Spp1 |
secreted phosphoprotein 1 |
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IEP ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar RGD |
PMID:17582161 PMID:22863349 PMID:25741868 PMID:28492532 PMID:20926632 |
RGD:5131995 |
NCBI chr14:5,613,569...5,620,695
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G |
Stat6 |
signal transducer and activator of transcription 6 |
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ISO |
protein:increased expression:kidney, epithelial cell |
RGD |
PMID:16399078 |
RGD:7243978 |
NCBI chr 7:65,365,505...65,382,825
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G |
Tigd2 |
tigger transposable element derived 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr 4:88,414,366...88,417,458
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G |
Traf7 |
TNF receptor associated factor 7 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr10:13,533,570...13,552,290
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:21115670 PMID:24611717 PMID:25741868 PMID:35778421 |
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NCBI chr10:14,125,679...14,160,317
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G |
Igf2bp2 |
insulin-like growth factor 2 mRNA binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Uromodulin-associated kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr11:92,378,908...92,478,893
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G |
Umod |
uromodulin |
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ISO |
ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease |
OMIM ClinVar RGD |
PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15253706 PMID:15589826 PMID:15983957 PMID:16135773 PMID:16883323 PMID:17010121 PMID:17245395 PMID:17576681 PMID:18004297 PMID:19465746 PMID:20151160 PMID:20172860 PMID:20301530 PMID:20472742 PMID:21868615 PMID:22117067 PMID:22693617 PMID:23748428 PMID:23988501 PMID:24670410 PMID:24961278 PMID:25671765 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:28781372 PMID:28990932 PMID:29100090 PMID:29204651 PMID:29212948 PMID:30099615 PMID:30376835 PMID:30586318 PMID:30773290 PMID:30976393 PMID:31068150 PMID:31509055 PMID:31822006 PMID:32274456 PMID:32450155 PMID:32926855 PMID:32954071 PMID:33532864 PMID:33574344 PMID:34519781 PMID:35368791 PMID:35947615 PMID:37217505 PMID:12471200 More...
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RGD:737832 |
NCBI chr 1:183,247,676...183,261,665
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G |
Ace |
angiotensin I converting enzyme |
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IMP IEP |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:20229187 PMID:20798958 |
RGD:2325220, RGD:12879406 |
NCBI chr10:91,410,129...91,430,246
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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IDA |
protein:increased serine phosphorylation:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chr 6:137,534,810...137,555,131
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G |
Aqp1 |
aquaporin 1 |
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IEP ISO |
mRNA, protein:increased expression, altered location:bile duct, epithelial cell CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18988797 PMID:18988797 |
RGD:2307071 |
NCBI chr 4:85,812,784...85,824,964
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G |
Arl3 |
ARF like GTPase 3 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr 1:255,342,078...255,388,087
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G |
Bicc1 |
BicC family RNA binding protein 1 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr20:17,449,639...17,686,775
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G |
C3 |
complement C3 |
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ISO |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:17960140 PMID:17960140 |
RGD:7175542, RGD:7175542 |
NCBI chr 9:2,174,412...2,201,339
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G |
Cd14 |
CD14 molecule |
severity |
ISO |
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RGD |
PMID:20555320 PMID:20555320 |
RGD:7204130, RGD:7204130 |
NCBI chr18:28,609,558...28,611,409
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G |
Cdc25a |
cell division cycle 25A |
treatment |
IEP IMP ISO |
protein:increased expression:cholangiocyte: |
RGD |
PMID:22155366 PMID:22155366 PMID:22155366 PMID:22155366 |
RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 |
NCBI chr 8:118,742,824...118,761,190
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G |
Cftr |
CF transmembrane conductance regulator |
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IEP ISO |
mRNA, protein:increased expression:bile duct epithelium CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18988797 PMID:18988797 |
RGD:2307071 |
NCBI chr 4:47,422,084...47,694,646
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G |
Cyp4a1 |
cytochrome P450, family 4, subfamily a, polypeptide 1 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:19129252 |
RGD:2303380 |
NCBI chr 5:129,123,323...129,137,464
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G |
Cyp4a2 |
cytochrome P450, family 4, subfamily a, polypeptide 2 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:19129252 |
RGD:2303380 |
NCBI chr 5:128,922,355...128,934,188
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G |
Cyp4a3 |
cytochrome P450, family 4, subfamily a, polypeptide 3 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:19129252 |
RGD:2303380 |
NCBI chr 5:129,097,571...129,115,488
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G |
Cyp4a8 |
cytochrome P450, family 4, subfamily a, polypeptide 8 |
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IEP |
mRNA:increased expression:kidney |
RGD |
PMID:19129252 |
RGD:2303380 |
NCBI chr 5:128,702,130...128,733,476
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G |
Cys1 |
cystin 1 |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease OMIM:263200 |
ClinVar MouseDO RGD |
PMID:25741868 PMID:34521872 PMID:11854326 |
RGD:7175541 |
NCBI chr 6:41,300,836...41,318,071
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease |
ClinVar |
PMID:16199547 PMID:23339108 PMID:28492532 PMID:29068549 PMID:32753734 PMID:33755199 More...
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NCBI chr 8:12,473,955...12,697,075
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G |
Dzip1l |
DAZ interacting zinc finger protein 1-like |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:263200 |
CTD MouseDO |
PMID:28530676 |
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NCBI chr 8:100,188,414...100,229,077
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9486961 |
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NCBI chr14:95,378,626...95,551,358
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G |
Eln |
elastin |
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IEP |
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RGD |
PMID:21478483 |
RGD:7207865 |
NCBI chr12:27,604,983...27,648,413
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G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
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ISO |
mRNA,protein:increased expression: cholangiocyte |
RGD |
PMID:28543567 |
RGD:14700993 |
NCBI chr 9:75,860,758...75,863,260
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G |
Ift88 |
intraflagellar transport 88 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:263200 |
CTD MouseDO |
PMID:8191288 PMID:8608416 |
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NCBI chr15:31,573,325...31,666,068
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G |
Mtor |
mechanistic target of rapamycin kinase |
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IDA |
protein:increased serine phosphorylation:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chr 5:164,167,985...164,277,438
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
mRNA:increased expression:kidney (mouse) |
RGD |
PMID:3479800 |
RGD:7207453 |
NCBI chr 7:95,483,105...95,488,031
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G |
Nek1 |
NIMA-related kinase 1 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr16:34,009,092...34,137,418
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G |
Nek8 |
NIMA-related kinase 8 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr10:63,558,940...63,570,954
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089381 |
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NCBI chr 8:113,500,708...113,541,179
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G |
Panx1 |
Pannexin 1 |
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IEP |
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RGD |
PMID:31630543 |
RGD:14995937 |
NCBI chr 8:11,851,176...11,889,774
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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IEP |
protein:increased expression:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chr 2:117,103,643...117,177,411
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISS ISO |
OMIM:263200 ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease |
MouseDO ClinVar |
PMID:25741868 PMID:26467025 PMID:29100090 PMID:32775833 PMID:33639313 |
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NCBI chr10:13,573,779...13,621,138
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chr14:5,541,821...5,585,140
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
susceptibility severity |
ISO ISS IAGP IEP |
DNA:missense mutations, nonsense mutations: :multiple ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I OMIM:263200 DNA:missense mutations:cds: DNA:deletion:exon: CTD Direct Evidence: marker/mechanism protein:decreased expression:kidney DNA:splice site mutation:intron:IVS35-2A>T |
ClinVar MouseDO CTD RGD |
PMID:1189128 PMID:3239877 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 PMID:12925574 PMID:14741187 PMID:14971004 PMID:15108277 PMID:15108281 PMID:15696446 PMID:15698423 PMID:15706593 PMID:15805161 PMID:16133180 PMID:16199545 PMID:16199547 PMID:16523049 PMID:16632497 PMID:16876319 PMID:16897190 PMID:17576681 PMID:18414213 PMID:18503009 PMID:18769842 PMID:18988797 PMID:19021639 PMID:19176689 PMID:19524688 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20301501 PMID:20413436 PMID:20460933 PMID:20575693 PMID:21228398 PMID:21274727 PMID:21407107 PMID:21493627 PMID:21685914 PMID:21790888 PMID:21945273 PMID:22034641 PMID:22415584 PMID:22882926 PMID:22995991 PMID:23041322 PMID:23265383 PMID:23389334 PMID:23582048 PMID:23757202 PMID:24009235 PMID:24033266 PMID:24121792 PMID:24162162 PMID:24710345 PMID:24984783 PMID:25034658 PMID:25114813 PMID:25124979 PMID:25153916 PMID:25193386 PMID:25326637 PMID:25525159 PMID:25589618 PMID:25640679 PMID:25646624 PMID:25701400 PMID:25741868 PMID:25741880 PMID:25741895 PMID:25741913 PMID:25771912 PMID:25966130 PMID:26139440 PMID:26385851 PMID:26489027 PMID:26489029 PMID:26633542 PMID:26673778 PMID:26695994 PMID:26721323 PMID:27151922 PMID:27225849 PMID:27491411 PMID:27577217 PMID:27595491 PMID:27752906 PMID:27894351 PMID:28166811 PMID:28170084 PMID:28252636 PMID:28364132 PMID:28375157 PMID:28492530 PMID:28492532 PMID:28578020 PMID:28851938 PMID:28862642 PMID:28933340 PMID:29068549 PMID:29095814 PMID:29520754 PMID:29643536 PMID:29801666 PMID:29947050 PMID:29956005 PMID:30017326 PMID:30260789 PMID:30275481 PMID:30343465 PMID:30366773 PMID:30507656 PMID:30566001 PMID:30586318 PMID:30595564 PMID:30650191 PMID:30655312 PMID:30773290 PMID:30787879 PMID:31010483 PMID:31130284 PMID:31308072 PMID:31328266 PMID:31395617 PMID:31395954 PMID:31589614 PMID:31624253 PMID:31730820 PMID:31738409 PMID:31813136 PMID:31844813 PMID:31938409 PMID:31980526 PMID:32203225 PMID:32256442 PMID:32304219 PMID:32359821 PMID:32384486 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32576985 PMID:32799815 PMID:32901917 PMID:32939031 PMID:33059616 PMID:33059727 PMID:33112055 PMID:33123899 PMID:33226606 PMID:33282801 PMID:33426401 PMID:33437033 PMID:33532864 PMID:33569422 PMID:33716212 PMID:33742171 PMID:33774617 PMID:33845788 PMID:33940108 PMID:33964006 PMID:34008892 PMID:34032358 PMID:34405919 PMID:34426522 PMID:34487536 PMID:34536170 PMID:34573383 PMID:34977057 PMID:35314707 PMID:35368817 PMID:35372954 PMID:35373060 PMID:35627109 PMID:35715958 PMID:35778421 PMID:35812281 PMID:36065636 PMID:36307859 PMID:36691356 PMID:36703223 PMID:37535131 PMID:38057357 PMID:38125876 PMID:38374194 PMID:11919560 PMID:11919560 PMID:12874454 PMID:17519956 PMID:14983006 PMID:11919560 More...
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RGD:70439, RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 |
NCBI chr 9:30,040,466...30,533,834
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G |
Pkhd1pck |
polycystic kidney and hepatic disease 1,polycystic kidney disease |
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IAGP |
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RGD |
PMID:11919560 |
RGD:70439 |
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G |
Sclt1 |
sodium channel and clathrin linker 1 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr 2:126,533,436...126,691,879
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G |
Slc4a2 |
solute carrier family 4 member 2 |
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IEP ISO |
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18988797 PMID:18988797 |
RGD:2307071 |
NCBI chr 4:11,628,860...11,646,961
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G |
Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18385429 |
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NCBI chr 3:166,511,616...166,559,463
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G |
Tmem67 |
transmembrane protein 67 |
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IAGP |
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RGD |
PMID:30705305 PMID:11095650 PMID:15052665 |
RGD:14995942, RGD:1300514, RGD:15014788 |
NCBI chr 5:30,333,793...30,386,702
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G |
Tmem67wpk |
transmembrane protein 67; wpk mutant |
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IAGP |
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RGD |
PMID:30705305 PMID:11095650 PMID:15052665 |
RGD:14995942, RGD:1300514, RGD:15014788 |
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G |
Tsc1 |
TSC complex subunit 1 |
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ISS |
OMIM:263200 |
MouseDO |
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NCBI chr 3:32,367,434...32,416,565
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) |
RGD |
PMID:21927809 |
RGD:13446406 |
NCBI chr15:22,098,191...22,113,145
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G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
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RGD |
PMID:27448803 |
RGD:13204792 |
NCBI chr 3:174,103,474...174,111,434
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G |
Tbx18 |
T-box transcription factor 18 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition |
OMIM CTD ClinVar |
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 |
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NCBI chr 8:97,531,960...97,559,988
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G |
Timp1 |
TIMP metallopeptidase inhibitor 1 |
treatment |
ISO |
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RGD |
PMID:27448803 |
RGD:13204792 |
NCBI chr X:3,766,509...3,772,578
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr10:91,410,129...91,430,246
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G |
Agtr1a |
angiotensin II receptor, type 1a |
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ISO |
ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr17:34,383,397...34,435,523
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G |
Bicc1 |
BicC family RNA binding protein 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: BICC1-related condition | ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to |
OMIM ClinVar |
PMID:21922595 PMID:25741868 PMID:28492532 |
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NCBI chr20:17,449,639...17,686,775
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
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NCBI chr 8:60,013,429...60,085,159
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G |
Abca2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,642,660...28,662,689
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G |
Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,814,924...29,826,569
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:3196484 PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:22995991 PMID:23532844 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25616960 PMID:25640679 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26729329 PMID:26759440 PMID:27434533 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28391287 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:28976722 PMID:29186038 PMID:29343940 PMID:30055837 PMID:30755392 PMID:31054281 PMID:31069529 PMID:31319225 PMID:31456290 PMID:31589614 PMID:31624253 PMID:31938409 PMID:31964843 PMID:32165824 PMID:32335874 PMID:32483926 PMID:32865313 PMID:33879512 PMID:33921607 PMID:34191236 PMID:34205586 PMID:34627237 PMID:34906502 PMID:35087072 PMID:36819107 More...
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NCBI chr 1:17,580,859...17,711,775
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G |
Ajm1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,793,078...28,799,459
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G |
Akap1 |
A-kinase anchoring protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:74,118,232...74,151,366
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G |
Aldh3a2 |
aldehyde dehydrogenase 3 family, member A2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,427,789...46,448,449
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G |
Alkbh5 |
alkB homolog 5, RNA demethylase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,844,411...45,865,853
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,484,590...28,496,338
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G |
Appbp2 |
amyloid beta precursor protein binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,555,212...70,597,267
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G |
Arl13b |
ARF like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:18674751 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr11:13,597,538...13,663,681
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G |
Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 PMID:39033378 |
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NCBI chr 9:94,250,492...94,376,589
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G |
Arrdc1 |
arrestin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,133,190...28,140,378
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G |
Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:26092869 PMID:28492532 |
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NCBI chr12:37,608,211...37,640,860
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G |
Atpaf2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,705,157...45,721,282
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16007087 PMID:16199547 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:27123465 PMID:27854218 PMID:28492532 PMID:29165578 PMID:30055837 PMID:32622957 PMID:34906502 PMID:36180924 More...
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NCBI chr10:46,685,410...46,698,580
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G |
B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:33234550 More...
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NCBI chr 1:90,315,472...90,323,143
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G |
Bcas3 |
BCAS3, microtubule associated cell migration factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,711,084...71,170,492
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G |
Brip1 |
BRCA1 interacting DNA helicase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,402,035...71,528,083
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G |
Bst1 |
bone marrow stromal cell antigen 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:71,466,179...71,482,671
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G |
C10h17orf67 |
similar to human chromosome 17 open reading frame 67 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:74,392,541...74,413,323
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:24997988 PMID:25741868 PMID:26092869 PMID:28492532 |
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NCBI chr 1:164,127,304...164,225,088
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G |
C7h12orf50 |
similar to human chromosome 12 open reading frame 50 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16682973 PMID:16909394 PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 PMID:29588463 More...
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NCBI chr 7:37,296,242...37,329,893
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G |
C8g |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,718,648...28,720,232
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G |
Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:27,779,133...27,944,292
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G |
Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,144,318...29,206,382
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G |
Car4 |
carbonic anhydrase 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,325,102...70,333,916
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G |
Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,569,907...29,578,402
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G |
Cby1 |
chibby 1, beta catenin antagonist |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:33131181 |
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NCBI chr 7:113,097,220...113,103,831
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18387594 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19763152 PMID:19777577 PMID:20307669 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22406018 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25920555 PMID:26003401 PMID:26062849 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26633542 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29165578 PMID:29620724 PMID:29987673 PMID:30055837 PMID:30091983 PMID:30202406 PMID:30267408 PMID:30609409 PMID:31130284 PMID:31577543 PMID:31589614 PMID:31618753 PMID:31680349 PMID:31738409 PMID:31964843 PMID:32005694 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33084218 PMID:33486889 PMID:33502066 PMID:34182252 PMID:34194672 PMID:34426522 PMID:34448047 PMID:34645488 PMID:34758253 PMID:34821546 PMID:34853893 PMID:34906502 PMID:35858853 PMID:36788019 PMID:38259611 PMID:38987663 More...
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NCBI chr14:71,563,835...71,648,352
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G |
Ccdc183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,826,918...28,837,072
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G |
Cd38 |
CD38 molecule |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr14:71,384,532...71,424,794
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G |
Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 |
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NCBI chr 5:169,817,383...169,849,681
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:3253185 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19763152 PMID:19764032 PMID:19823873 PMID:19959640 PMID:20079931 PMID:20130272 PMID:20301475 PMID:20307669 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21228398 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21786365 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22406018 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23661368 PMID:23847139 PMID:23954617 PMID:24223178 PMID:24265693 PMID:24474277 PMID:24767827 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25326637 PMID:25356976 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25818971 PMID:25920555 PMID:25937446 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27434533 PMID:27491411 PMID:27821535 PMID:27848944 PMID:27894351 PMID:28041643 PMID:28127548 PMID:28157192 PMID:28224992 PMID:28418496 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28619647 PMID:28660274 PMID:28771248 PMID:28829391 PMID:28844315 PMID:28912962 PMID:28914264 PMID:28966547 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29186038 PMID:29217415 PMID:29261186 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29518907 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29771326 PMID:29844330 PMID:29970488 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30478281 PMID:30559420 PMID:30576320 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31069529 PMID:31087526 PMID:31091803 PMID:31345219 PMID:31370859 PMID:31411728 PMID:31429209 PMID:31456290 PMID:31589614 PMID:31623504 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31816670 PMID:31840411 PMID:31877679 PMID:31879347 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32386258 PMID:32483926 PMID:32531858 PMID:32579692 PMID:32581362 PMID:32600475 PMID:32619255 PMID:32856788 PMID:32864857 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33576794 PMID:33726816 PMID:33749171 PMID:33886416 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34031707 PMID:34096792 PMID:34196201 PMID:34196655 PMID:34321860 PMID:34327195 PMID:34426522 PMID:34582790 PMID:34691137 PMID:34716235 PMID:34758253 PMID:34795310 PMID:34821546 PMID:34906470 PMID:35005812 PMID:35314707 PMID:35627109 PMID:35764379 PMID:35836572 PMID:36369640 PMID:36460718 PMID:36493848 PMID:36537646 PMID:36729443 PMID:36819107 PMID:36909829 PMID:36990420 PMID:37008293 PMID:37510321 PMID:38709228 More...
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NCBI chr 7:37,196,765...37,285,955
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G |
Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:60,238,602...60,279,670
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G |
Chct1 |
CHD1 helical C-terminal domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,537,206...70,548,972
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G |
Cimip2a |
ciliary microtubule inner protein 2A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,429,413...28,437,210
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G |
Clic3 |
chloride intracellular channel 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,670,176...28,672,166
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G |
Cltc |
clathrin heavy chain |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,014,984...72,073,308
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G |
Cluap1 |
clusterin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 PMID:28679688 |
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NCBI chr10:12,094,346...12,159,440
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G |
Coil |
coilin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:74,286,279...74,307,597
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G |
Cops3 |
COP9 signalosome subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,117,664...45,151,868
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:10488899 PMID:16199547 PMID:20301500 PMID:22425360 PMID:24033266 PMID:24178751 PMID:25741868 PMID:25877302 PMID:26092869 PMID:28492532 More...
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NCBI chr 2:58,996,119...59,096,817
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G |
Cpsf7 |
cleavage and polyadenylation specific factor 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:216,592,745...216,616,860
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G |
Cuedc1 |
CUE domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,389,798...73,484,914
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G |
Cyb561a3 |
cytochrome b561 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:216,641,108...216,662,495
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G |
Cysrt1 |
cysteine rich tail 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,452,359...28,456,006
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G |
Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:74,348,931...74,374,509
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G |
Dhx40 |
DEAH-box helicase 40 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,081,867...72,118,792
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G |
Dipk1b |
divergent protein kinase domain 1B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,852,710...29,862,248
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,568,041...29,569,937
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G |
Dph7 |
diphthamide biosynthesis 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,168,466...28,177,173
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G |
Dpp7 |
dipeptidylpeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,563,240...28,567,492
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G |
Drc3 |
dynein regulatory complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,620,045...45,698,902
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G |
Drg2 |
developmentally regulated GTP binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,755,072...45,769,493
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G |
Dynll2 |
dynein light chain LC8-type 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,264,260...73,283,042
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G |
Edf1 |
endothelial differentiation-related factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,764,906...28,779,499
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G |
Egfl6 |
EGF-like-domain, multiple 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:31,515,752...31,573,699
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,802,481...29,814,966
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:27,978,888...28,127,178
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G |
Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr12:37,686,149...37,694,830
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,611,722...28,617,237
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G |
Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,283,392...28,295,686
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,599,059...29,605,780
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G |
Epn2 |
epsin 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,697,238...46,759,128
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G |
Epx |
eosinophil peroxidase |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:73,164,096...73,175,180
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G |
Exoc8 |
exocyst complex component 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:22700954 |
|
NCBI chr19:69,752,387...69,754,876
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G |
Fam149b1 |
family with sequence similarity 149, member B1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:30905400 |
|
NCBI chr15:3,978,377...4,016,323
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G |
Fam83g |
family with sequence similarity 83, member G |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,862,983...46,887,499
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G |
Fbxl5 |
F-box and leucine-rich repeat protein 5 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr14:71,517,452...71,559,850
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G |
Fbxw10 |
F-box and WD repeat domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:48,012,555...48,051,136
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G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,720,670...28,725,237
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G |
Fgfbp1 |
fibroblast growth factor binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr14:71,316,171...71,319,965
|
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G |
Flcn |
folliculin |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,088,164...45,107,581
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G |
Flii |
FLII, actin remodeling protein |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,893,566...45,907,547
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:17558409 PMID:25741868 PMID:28492532 |
|
NCBI chr19:31,456,749...31,865,011
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G |
Fut7 |
fucosyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,635,913...28,640,407
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G |
Gdpd1 |
glycerophosphodiester phosphodiesterase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,318,716...72,381,143
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G |
Gid4 |
GID complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,721,055...45,747,132
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G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,026,023...29,037,010
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G |
Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,538,929...29,565,921
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G |
Grap |
GRB2-related adaptor protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,798,423...46,851,524
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,501,836...28,528,754
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G |
Gtf2h3 |
general transcription factor IIH subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr12:37,669,995...37,687,505
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G |
Heatr6 |
HEAT repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:69,132,532...69,161,334
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G |
Hsf5 |
heat shock transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,913,730...72,957,649
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:24140113 PMID:25741868 PMID:26092869 |
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NCBI chr 6:30,801,841...30,841,239
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19597493 PMID:19668215 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:23847139 PMID:24257694 PMID:25132448 PMID:25133751 PMID:25516202 PMID:25741868 PMID:25818971 PMID:25920555 PMID:25963545 PMID:25999675 PMID:26075876 PMID:26092869 PMID:26748598 PMID:26820064 PMID:27081510 PMID:27353947 PMID:27401686 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28771248 PMID:29052317 PMID:29146704 PMID:29186038 PMID:29230161 PMID:29555955 PMID:29915382 PMID:29987673 PMID:30202406 PMID:31456290 PMID:31506345 PMID:31589614 PMID:32304219 PMID:32483926 PMID:33270637 PMID:33749171 PMID:34188062 PMID:34234304 PMID:34448047 PMID:35304488 PMID:36063381 PMID:36460718 PMID:36909829 More...
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NCBI chr 3:29,614,868...29,627,542
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G |
Irx3 |
iroquois homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:31,384,803...31,388,241
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G |
Irx5 |
iroquois homeobox 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:30,812,033...30,816,885
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G |
Irx6 |
iroquois homeobox 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:30,503,416...30,509,396
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G |
Katnip |
katanin interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:25741868 PMID:26714646 PMID:28492532 |
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NCBI chr 1:189,700,838...189,867,402
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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,081,071...29,136,902
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G |
Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 PMID:36788019 PMID:39033378 More...
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NCBI chr 6:95,358,682...95,461,911
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G |
Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:21633164 PMID:25741868 PMID:28492532 |
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NCBI chr 1:143,041,206...143,067,873
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G |
Kitlg |
KIT ligand |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:36,782,621...36,863,796
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G |
Lcn1 |
lipocalin 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,930,943...29,935,418
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G |
Lcn10 |
lipocalin 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,888,901...28,892,454
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G |
Lcn12 |
lipocalin 12 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,710,557...28,713,537
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G |
Lcn6 |
lipocalin 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,882,133...28,887,697
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G |
Lcn8 |
lipocalin 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,866,061...28,869,045
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G |
Lcn9 |
lipocalin 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,041,710...29,050,677
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G |
Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,424,620...29,432,637
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G |
Llgl1 |
LLGL scribble cell polarity complex component 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,878,936...45,893,609
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G |
Lpo |
lactoperoxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,104,170...73,124,683
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G |
Lrrc26 |
leucine rich repeat containing 26 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,500,517...28,501,843
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G |
Lrrc34 |
leucine rich repeat containing 34 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 2:114,680,787...114,702,961
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G |
Mamdc4 |
MAM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,780,523...28,789,139
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G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,539,778...28,563,155
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G |
Mapk7 |
mitogen-activated protein kinase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,669,721...46,675,768
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G |
Med9 |
mediator complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,250,229...45,264,988
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G |
Mfap4 |
microfibril associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,666,552...46,669,613
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G |
Micall2 |
MICAL-like 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
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NCBI chr12:20,013,037...20,041,795
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G |
Mief2 |
mitochondrial elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,907,576...45,913,658
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G |
Mir126a |
microRNA 126a |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,813,150...29,813,267
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G |
Mir21 |
microRNA 21 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,902,600...71,902,691
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21068128 PMID:21228398 PMID:21258341 PMID:22353939 PMID:22406018 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28289063 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30793526 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33193692 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34426522 PMID:34573333 PMID:34582790 PMID:35360848 PMID:35587316 More...
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NCBI chr10:73,152,599...73,167,451
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:30,327,643...30,355,856
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G |
Mpo |
myeloperoxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:73,092,124...73,102,057
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G |
Mprip |
myosin phosphatase Rho interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,953,472...45,073,388
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G |
Mrpl41 |
mitochondrial ribosomal protein L41 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,178,837...28,179,755
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:32,201,037...32,204,317
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G |
Mrps23 |
mitochondrial ribosomal protein S23 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:73,494,417...73,503,996
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G |
Msi2 |
musashi RNA-binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:73,640,960...74,007,497
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G |
Mtmr4 |
myotubularin related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,890,665...72,913,598
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G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,776,907...45,835,473
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G |
Nacc2 |
NACC family member 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,278,077...29,345,098
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G |
Ndor1 |
NADPH dependent diflavin oxidoreductase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,460,787...28,469,018
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G |
Nelfb |
negative elongation factor complex member B |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,409,045...28,425,564
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G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:74,625,874...74,627,501
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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:29,676,040...29,721,613
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G |
Noxa1 |
NADPH oxidase activator 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,293,643...28,309,828
|
|
G |
Npdc1 |
neural proliferation, differentiation and control, 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,618,601...28,624,591
|
|
G |
Nphp1 |
nephrocystin 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:24746959 PMID:25741868 PMID:28492532 |
|
NCBI chr 3:135,413,927...135,469,505
|
|
G |
Nrarp |
Notch-regulated ankyrin repeat protein |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,390,745...28,393,299
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|
G |
Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,260,018...28,268,790
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|
G |
Nt5m |
5',3'-nucleotidase, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,151,902...45,178,687
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|
G |
Obp2a |
odorant binding protein 2A |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,904,024...28,907,391
|
|
G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25674159 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28125082 PMID:28289185 PMID:28371265 PMID:28492532 PMID:28831199 PMID:29193896 PMID:29843741 PMID:30401917 PMID:31373179 PMID:33825116 PMID:34440443 PMID:35112477 PMID:35728977 PMID:36704348 More...
|
|
NCBI chr X:31,647,000...31,687,768
|
|
G |
Olr1523 |
olfactory receptor 1523 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:73,205,498...73,206,439
|
|
G |
Or4d2b |
olfactory receptor family 4 subfamily D member 2B |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:73,190,242...73,191,177
|
|
G |
Paep |
progestagen associated endometrial protein |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,929,252...28,932,592
|
|
G |
Paxx |
PAXX, non-homologous end joining factor |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,672,906...28,676,252
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|
G |
Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:20232449 PMID:23559409 PMID:28492532 |
|
NCBI chr 5:30,245,699...30,252,494
|
|
G |
Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25558065 PMID:27894351 |
|
NCBI chr19:55,974,611...56,019,045
|
|
G |
Pemt |
phosphatidylethanolamine N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,275,434...45,349,651
|
|
G |
Phpt1 |
phosphohistidine phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,791,062...28,792,905
|
|
G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:26167768 PMID:28492532 |
|
NCBI chr15:82,258,243...82,427,546
|
|
G |
Pld6 |
phospholipase D family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,078,081...45,080,732
|
|
G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:29,605,823...29,614,936
|
|
G |
Pnpla7 |
patatin-like phospholipase domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,180,670...28,259,673
|
|
G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent, 1D |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:70,670,026...70,706,030
|
|
G |
Ppm1e |
protein phosphatase, Mg2+/Mn2+ dependent, 1E |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,548,906...72,684,702
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr14:71,202,303...71,307,008
|
|
G |
Prpsap2 |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,910,282...46,945,401
|
|
G |
Prr11 |
proline rich 11 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,396,127...72,440,643
|
|
G |
Ptgds |
prostaglandin D2 synthase |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,680,044...28,682,978
|
|
G |
Ptrh2 |
peptidyl-tRNA hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,002,450...72,012,606
|
|
G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:29,433,091...29,462,739
|
|
G |
Rab9a |
RAB9A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
|
|
NCBI chr X:31,610,089...31,632,128
|
|
G |
Rabl6 |
RAB, member RAS oncogene family-like 6 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,800,802...28,826,722
|
|
G |
Rad51c |
RAD51 paralog C |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,702,299...72,728,980
|
|
G |
Rai1 |
retinoic acid induced 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,412,748...45,507,747
|
|
G |
Rasd1 |
ras related dexamethasone induced 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,265,975...45,275,279
|
|
G |
Rcor1 |
REST corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:26489029 |
|
NCBI chr 6:135,890,851...135,967,367
|
|
G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 PMID:20683928 PMID:21786365 PMID:23954617 PMID:25741868 PMID:27821535 PMID:28492532 PMID:29588463 PMID:30193310 PMID:31589614 PMID:34196655 More...
|
|
NCBI chr 7:37,284,545...37,295,858
|
|
G |
Rnf112 |
ring finger protein 112 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,620,602...46,655,745
|
|
G |
Rnf208 |
ring finger protein 208 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,455,836...28,457,879
|
|
G |
Rnf224 |
ring finger protein 224 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,448,248...28,450,576
|
|
G |
Rnf43 |
ring finger protein 43 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,958,744...73,034,540
|
|
G |
Rnft1 |
ring finger protein, transmembrane 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,807,403...71,821,132
|
|
G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21068128 PMID:21866095 PMID:22331178 PMID:22406018 PMID:22693042 PMID:23188109 PMID:23351400 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27717089 PMID:28378410 PMID:28492532 PMID:28771248 PMID:29343940 PMID:29620724 PMID:29991045 PMID:31328266 PMID:31390572 PMID:31964843 PMID:31980526 PMID:32483926 PMID:33323469 PMID:34308837 PMID:35233738 PMID:35858853 PMID:36061204 PMID:36468023 More...
|
|
NCBI chr19:31,865,050...31,957,930
|
|
G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,817,794...71,865,211
|
|
G |
Sapcd2 |
suppressor APC domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,583,615...28,590,694
|
|
G |
Scpep1 |
serine carboxypeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:74,200,491...74,230,107
|
|
G |
Sdhaf2 |
succinate dehydrogenase complex assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr 1:216,564,002...216,592,877
|
|
G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:29,627,779...29,662,925
|
|
G |
Septin4 |
septin 4 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,863,969...72,888,018
|
|
G |
Shmt1 |
serine hydroxymethyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,968,959...45,990,341
|
|
G |
Ska2 |
spindle and kinetochore associated complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,418,707...72,436,721
|
|
G |
Slc34a3 |
solute carrier family 34 member 3 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:28,442,455...28,447,997
|
|
G |
Slc47a1 |
solute carrier family 47 member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,533,580...46,590,128
|
|
G |
Slc5a10 |
solute carrier family 5 member 10 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,851,527...46,898,460
|
|
G |
Smcr8 |
SMCR8-C9orf72 complex subunit |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,957,146...45,968,388
|
|
G |
Smg8 |
SMG8 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,384,012...72,393,746
|
|
G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:29,580,157...29,598,440
|
|
G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
|
|
NCBI chr 3:29,061,267...29,065,588
|
|
G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,507,152...45,529,164
|
|
G |
Srsf1 |
serine and arginine rich splicing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:73,335,519...73,342,549
|
|
G |
Ssna1 |
SS nuclear autoantigen 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,483,107...28,484,571
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G |
Stpg3 |
sperm-tail PG-rich repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,426,283...28,432,857
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G |
Supt4h1 |
SPT4 homolog, DSIF elongation factor subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,036,560...73,042,821
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G |
Sycp3l1 |
synaptonemal complex protein 3 like 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr 1:195,538,997...195,539,889
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G |
Tapt1 |
transmembrane anterior posterior transformation 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:71,085,966...71,132,228
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G |
Tbx2 |
T-box transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,177,082...71,186,275
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G |
Tbx4 |
T-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,228,145...71,258,222
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G |
Tceanc |
transcription elongation factor A N-terminal and central domain containing |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:31,587,207...31,592,694
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25741868 PMID:25920555 PMID:26477546 PMID:26489806 PMID:27894351 PMID:28492532 PMID:31302911 More...
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NCBI chr12:39,970,554...40,003,727
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G |
Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:23169490 PMID:24033266 PMID:25118024 PMID:25640679 PMID:25741868 PMID:26092869 PMID:26729329 PMID:27894351 PMID:28492532 PMID:28771248 PMID:31428121 PMID:32552793 More...
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NCBI chr12:37,643,711...37,668,035
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G |
Tex14 |
testis expressed 14, intercellular bridge forming factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,729,017...72,859,697
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:90,324,312...90,340,627
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G |
Tlr7 |
toll-like receptor 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:30,644,324...30,670,796
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G |
Tlr8 |
toll-like receptor 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:30,708,714...30,733,104
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G |
Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:216,644,047...216,651,091
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G |
Tmem141 |
transmembrane protein 141 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,837,665...28,839,623
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G |
Tmem17 |
transmembrane protein 17 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr14:100,684,655...100,725,471
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G |
Tmem203 |
transmembrane protein 203 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,469,062...28,469,890
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G |
Tmem210 |
transmembrane protein 210 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,498,751...28,499,801
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20036350 PMID:20301500 PMID:20307669 PMID:20512146 PMID:22282472 PMID:22406018 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:31964843 PMID:32483926 PMID:34448047 PMID:36788019 PMID:37486637 PMID:39191256 More...
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NCBI chr 1:216,621,365...216,627,497
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G |
Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:45,113,368...45,128,739
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G |
Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:56,792,329...56,813,515
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G |
Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31019026 PMID:31710777 More...
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NCBI chr 9:68,027,481...68,066,731
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G |
Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,360,770...29,364,756
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:19763152 PMID:20232449 PMID:20307669 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22406018 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26075130 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26477546 PMID:26546361 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29096039 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29568536 PMID:29891882 PMID:29947050 PMID:29974258 PMID:30029678 PMID:30266093 PMID:30455918 PMID:30476936 PMID:31019026 PMID:31411728 PMID:31589614 PMID:31738409 PMID:32000717 PMID:32058062 PMID:32404165 PMID:32483926 PMID:32939031 PMID:33532864 PMID:34006472 PMID:34032358 PMID:34426522 PMID:34448047 PMID:34645491 PMID:34675960 PMID:34964473 PMID:35229910 PMID:36090483 PMID:36221156 PMID:36617405 PMID:36703223 More...
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NCBI chr 5:30,333,793...30,386,702
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G |
Tmsb4x |
thymosin beta 4, X-linked |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:30,761,611...30,763,612
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G |
Tmtc3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:37,151,456...37,196,550
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,301,336...46,322,460
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G |
Togaram1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:32453716 PMID:32747439 |
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NCBI chr 6:88,755,264...88,819,599
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G |
Tom1l2 |
target of myb1 like 2 membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,535,548...45,657,528
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G |
Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,915,625...45,956,856
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G |
Tor4a |
torsin family 4, member A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,402,454...28,406,141
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G |
Tprn |
taperin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,474,322...28,481,800
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G |
Traf2 |
Tnf receptor-associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,740,098...28,764,752
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G |
Trappc2 |
trafficking protein particle complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:25674159 PMID:27081566 PMID:28492532 More...
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NCBI chr X:31,617,107...31,647,035
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G |
Trim25 |
tripartite motif-containing 25 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:74,310,024...74,328,473
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G |
Trim37 |
tripartite motif-containing 37 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,440,672...72,572,831
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G |
Tspoap1 |
TSPO associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,053,414...73,083,640
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:71,269,425...71,343,936
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G |
Tubb4b |
tubulin, beta 4B class IVb |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,435,999...28,438,455
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G |
Tubd1 |
tubulin, delta 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,865,446...71,888,731
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G |
Tvp23b |
trans-golgi network vesicle protein 23 homolog B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:48,053,005...48,067,326
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G |
Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,570,854...28,579,766
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G |
Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:29,223,582...29,246,216
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G |
Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29767709 PMID:30245029 PMID:31429209 PMID:32707200 PMID:34426522 More...
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NCBI chr13:102,368,783...103,035,230
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G |
Usp32 |
ubiquitin specific peptidase 32 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,353,310...70,538,008
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G |
Vezf1 |
vascular endothelial zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,341,666...73,373,320
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G |
Vmp1 |
vacuole membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,903,223...72,002,337
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
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NCBI chr14:99,847,463...100,178,392
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G |
Ypel2 |
yippee-like 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,243,591...72,301,124
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G |
Zmynd19 |
zinc finger, MYND-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:28,156,314...28,167,903
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 CTD Direct Evidence: marker/mechanism DNA:misense mutation:exon:c.35G>T(p.R12L)(human) |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:31964843 PMID:32483926 PMID:34448047 PMID:36788019 PMID:37486637 PMID:39191256 PMID:20036350 More...
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RGD:11561919 |
NCBI chr 1:216,621,365...216,627,497
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) |
RGD |
PMID:17409309 |
RGD:7246903 |
NCBI chr 1:17,580,859...17,711,775
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G |
Mall |
mal, T-cell differentiation protein-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome with renal defect |
ClinVar |
PMID:25741868 |
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NCBI chr 3:135,381,180...135,404,136
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 4 | ClinVar Annotator: match by term: Joubert syndrome with renal defect CTD Direct Evidence: marker/mechanism associated with Kidney Diseases, Cystic;DNA:mutation |
OMIM ClinVar CTD RGD |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17409309 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28559085 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31345219 PMID:31523374 PMID:31822006 PMID:32173348 PMID:32483926 PMID:33193692 PMID:34090716 PMID:36090483 PMID:17409309 More...
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RGD:7246903 |
NCBI chr 3:135,413,927...135,469,505
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G |
Nphp4 |
nephrocystin 4 |
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ISO |
DNA:mutations:exon, intron:multiple |
RGD |
PMID:15776426 |
RGD:11068164 |
NCBI chr 5:168,270,522...168,356,393
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
ClinVar |
PMID:19936001 PMID:25741868 PMID:28492532 |
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NCBI chr14:5,541,821...5,585,140
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G |
Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
ClinVar |
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NCBI chr15:27,282,997...27,341,021
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 7 OMIM:611560 CTD Direct Evidence: marker/mechanism DNA:missense mutations, splice-site mutation:exon, intron:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:20301500 PMID:21866095 PMID:23351400 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27717089 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:32483926 PMID:33323469 PMID:35233738 PMID:35858853 PMID:36468023 PMID:17960139 More...
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RGD:11537350 |
NCBI chr19:31,865,050...31,957,930
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G |
Cfh |
complement factor H |
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ISO |
ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney |
ClinVar |
PMID:25741868 |
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NCBI chr13:51,512,376...51,613,829
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G |
Gata4 |
GATA binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:41,635,572...41,707,252
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G |
Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2624270 PMID:2976441 PMID:7151342 PMID:9398836 PMID:9703339 PMID:10484768 PMID:10672455 PMID:10720943 PMID:10758154 PMID:10868855 PMID:11085914 PMID:11317673 PMID:11562418 PMID:11845237 PMID:11845238 PMID:11918730 PMID:12148114 PMID:12161522 PMID:12460054 PMID:12478351 PMID:12675839 PMID:14583183 PMID:15001636 PMID:15068978 PMID:15085338 PMID:15168014 PMID:15181075 PMID:15509593 PMID:15649945 PMID:15660195 PMID:15930087 PMID:16133182 PMID:16199547 PMID:16249435 PMID:16371430 PMID:16801329 PMID:16971658 PMID:17116179 PMID:17267738 PMID:17337496 PMID:17440011 PMID:17878605 PMID:17924661 PMID:18065799 PMID:18249217 PMID:18528323 PMID:18644064 PMID:19228875 PMID:19346182 PMID:19389850 PMID:19639018 PMID:20155289 PMID:20378641 PMID:20543213 PMID:20603712 PMID:20633866 PMID:21163139 PMID:21380624 PMID:21617276 PMID:21775974 PMID:22034641 PMID:22051731 PMID:22060211 PMID:22114815 PMID:22432796 PMID:22641569 PMID:22706971 PMID:23520208 PMID:23539225 PMID:23926411 PMID:23979948 PMID:24033266 PMID:24041679 PMID:24097065 PMID:24254850 PMID:24382792 PMID:24387224 PMID:24429398 PMID:24476040 PMID:24698406 PMID:24897035 PMID:24961278 PMID:25041077 PMID:25265965 PMID:25367728 PMID:25441779 PMID:25500806 PMID:25536396 PMID:25700310 PMID:25705165 PMID:25741167 PMID:25741868 PMID:25754277 PMID:26024028 PMID:26059258 PMID:26226118 PMID:26319241 PMID:26340261 PMID:26417411 PMID:26467025 PMID:26489027 PMID:26489029 PMID:26669242 PMID:26899772 PMID:27229139 PMID:27234567 PMID:27297286 PMID:27615128 PMID:27657687 PMID:27838256 PMID:27913849 PMID:28215227 PMID:28251383 PMID:28420700 PMID:28453780 PMID:28492532 PMID:28502589 PMID:28593362 PMID:28912863 PMID:29100090 PMID:29207974 PMID:29406598 PMID:29491316 PMID:29764441 PMID:29927023 PMID:30143558 PMID:30191644 PMID:30259503 PMID:30476936 PMID:30481753 PMID:30548481 PMID:30655312 PMID:30663027 PMID:30666461 PMID:30773290 PMID:30791938 PMID:31131422 PMID:31198537 PMID:31291970 PMID:31365591 PMID:31498910 PMID:31595705 PMID:31604004 PMID:31825128 PMID:32041611 PMID:32164334 PMID:32266039 PMID:32708349 PMID:32939031 PMID:33046911 PMID:33259036 PMID:33305128 PMID:33324081 PMID:33434175 PMID:33532864 PMID:33574344 PMID:33663443 PMID:33851123 PMID:35474932 PMID:35643372 PMID:35846334 PMID:36090499 PMID:36208030 PMID:36522156 PMID:36549658 PMID:36613572 PMID:36672242 PMID:36793123 More...
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NCBI chr10:68,735,894...68,789,888
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G |
Park7 |
Parkinsonism associated deglycase |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
ClinVar |
PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 PMID:15790532 PMID:16997464 PMID:19429112 PMID:22173095 PMID:22428580 PMID:22960331 PMID:22995991 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27294386 PMID:27592010 PMID:28492532 More...
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NCBI chr 5:166,636,551...166,659,825
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G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
ClinVar |
PMID:27657687 |
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NCBI chr 1:243,616,509...243,697,454
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G |
Prkag2 |
protein kinase AMP-activated non-catalytic subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
ClinVar |
PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28498465 More...
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NCBI chr 4:10,744,695...10,985,939
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,685,410...46,698,580
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G |
B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:28492532 |
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NCBI chr 1:90,315,472...90,323,143
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome |
ClinVar |
PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23351400 PMID:24033266 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29146704 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:34194672 More...
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NCBI chr14:71,563,835...71,648,352
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:27491411 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28914264 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30478281 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31429209 PMID:31589614 PMID:31623504 PMID:31630094 PMID:31734136 PMID:31816670 PMID:31877679 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32531858 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33749171 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34426522 PMID:34691137 PMID:34906470 PMID:35764379 PMID:36369640 PMID:36460718 PMID:36909829 PMID:37510321 More...
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NCBI chr 7:37,196,765...37,285,955
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G |
Cspp1 |
centrosome and spindle pole associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:24360803 PMID:25558065 PMID:25741868 |
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NCBI chr 5:13,860,072...13,975,299
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:31,456,749...31,865,011
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G |
Hoxb6 |
homeo box B6 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:81,755,263...81,763,999
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human) DNA:deletion:intron:IVS15-7_35del (human) DNA:splice-site mutation:intron:c.515 + 6T>C (mouse) DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28289063 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30793526 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34426522 PMID:34573333 PMID:34582790 PMID:35587316 PMID:23351400 PMID:17935508 PMID:19776033 PMID:21045211 PMID:17397051 More...
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RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 |
NCBI chr10:73,152,599...73,167,451
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:113,500,708...113,541,179
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34196655 |
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NCBI chr 7:37,284,545...37,295,858
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G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:22331178 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 PMID:31980526 PMID:32483926 PMID:36468023 More...
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NCBI chr19:31,865,050...31,957,930
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G |
Snord118 |
small nucleolar RNA, C/D box 118 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 |
ClinVar |
PMID:25741868 PMID:27571260 |
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NCBI chr10:54,273,655...54,273,790
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 |
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NCBI chr12:39,970,554...40,003,727
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G |
Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 |
ClinVar |
PMID:25741868 PMID:27571260 |
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NCBI chr10:54,268,218...54,273,520
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G |
Tmem231 |
transmembrane protein 231 |
|
ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 PMID:25869670 PMID:28492532 More...
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NCBI chr19:56,792,329...56,813,515
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G |
Tmem67 |
transmembrane protein 67 |
|
ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome |
ClinVar |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30476936 PMID:34032358 PMID:34964473 More...
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NCBI chr 5:30,333,793...30,386,702
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G |
Kif14 |
kinesin family member 14 |
|
ISO |
ClinVar Annotator: match by term: Meckel syndrome 12 |
OMIM ClinVar |
PMID:24128419 PMID:25741868 PMID:28492532 |
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NCBI chr13:50,478,646...50,542,256
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G |
Tmem107 |
transmembrane protein 107 |
|
ISO |
ClinVar Annotator: match by term: Meckel syndrome 13 |
OMIM ClinVar |
PMID:25741868 PMID:26123494 PMID:26595381 |
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NCBI chr10:54,268,218...54,273,520
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G |
Tmem216 |
transmembrane protein 216 |
|
ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 CTD Direct Evidence: marker/mechanism DNA:missense,frameshift,nonsense mutations:cds,splice junction: |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:31964843 PMID:32483926 PMID:34448047 PMID:36788019 PMID:37486637 PMID:39191256 PMID:20512146 More...
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RGD:11067331 |
NCBI chr 1:216,621,365...216,627,497
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G |
Tmem67 |
transmembrane protein 67 |
|
ISO IAGP |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 CTD Direct Evidence: marker/mechanism DNA:deletion DNA:deletions, missense mutation, splice-site mutations: :multiple DNA:missense mutation:exon:p.P394L (rat) DNA:missense mutation:exon:p.R549C (c.1645C>T) (human) DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human) DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human) DNA:missense mutations, splice-site mutation:exon:multiple |
OMIM ClinVar CTD RGD |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22121117 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26546361 PMID:26729329 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30266093 PMID:30476936 PMID:31411728 PMID:32000717 PMID:32483926 PMID:32939031 PMID:34032358 PMID:34426522 PMID:34448047 PMID:34675960 PMID:36090483 PMID:26035863 PMID:19211713 PMID:16415887 PMID:16415887 PMID:26191240 PMID:23351400 PMID:17377820 PMID:17397051 More...
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RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 |
NCBI chr 5:30,333,793...30,386,702
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G |
Tmem67wpk |
transmembrane protein 67; wpk mutant |
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IAGP |
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RGD |
PMID:16415887 |
RGD:11535082 |
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:frameshift mutation:exon:c.5489del (human) |
OMIM ClinVar CTD RGD |
PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19823873 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21228398 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23661368 PMID:23847139 PMID:23954617 PMID:24223178 PMID:24265693 PMID:24474277 PMID:24767827 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:25937446 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27434533 PMID:27491411 PMID:27894351 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28619647 PMID:28660274 PMID:28714225 PMID:28771248 PMID:28829391 PMID:28912962 PMID:28914264 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29186038 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29518907 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29771326 PMID:29844330 PMID:29970488 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30478281 PMID:30559420 PMID:30576320 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31069529 PMID:31087526 PMID:31091803 PMID:31345219 PMID:31370859 PMID:31411728 PMID:31429209 PMID:31589614 PMID:31623504 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31816670 PMID:31877679 PMID:31879347 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32483926 PMID:32531858 PMID:32579692 PMID:32581362 PMID:32600475 PMID:32856788 PMID:32864857 PMID:32865313 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33576794 PMID:33726816 PMID:33749171 PMID:33886416 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196201 PMID:34196655 PMID:34327195 PMID:34426522 PMID:34582790 PMID:34691137 PMID:34716235 PMID:34758253 PMID:34795310 PMID:34906470 PMID:35005812 PMID:35314707 PMID:35627109 PMID:35764379 PMID:35836572 PMID:36369640 PMID:36460718 PMID:36493848 PMID:36537646 PMID:36729443 PMID:36819107 PMID:36909829 PMID:36990420 PMID:37008293 PMID:37510321 PMID:38709228 PMID:17564974 PMID:17705300 More...
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RGD:11063677, RGD:11070805 |
NCBI chr 7:37,196,765...37,285,955
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:31589614 PMID:34196655 More...
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NCBI chr 7:37,284,545...37,295,858
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G |
Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:45,113,368...45,128,739
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3442652 PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:32483926 PMID:33323469 PMID:35233738 PMID:35858853 More...
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NCBI chr19:31,865,050...31,957,930
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: CC2D2A-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 6 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26003401 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29620724 PMID:29987673 PMID:30202406 PMID:30609409 PMID:31130284 PMID:31618753 PMID:31964843 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33084218 PMID:33486889 PMID:34194672 PMID:34426522 PMID:34448047 PMID:34645488 PMID:34758253 PMID:34853893 PMID:36788019 PMID:38987663 More...
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NCBI chr14:71,563,835...71,648,352
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 6 |
ClinVar |
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:18327255 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25937446 PMID:26092869 PMID:27353947 PMID:28492532 PMID:28559085 PMID:29398085 PMID:29620724 PMID:30718709 PMID:31069529 PMID:31345219 PMID:31411728 PMID:31589614 PMID:31734136 PMID:31879347 PMID:31964843 PMID:32139166 PMID:32531858 PMID:34196201 PMID:34582790 PMID:34716235 PMID:34758253 PMID:36460718 PMID:36819107 More...
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NCBI chr 7:37,196,765...37,285,955
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G |
Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 6 |
ClinVar |
PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 PMID:26729329 PMID:27894351 PMID:28492532 PMID:31428121 PMID:32552793 More...
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NCBI chr12:37,643,711...37,668,035
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:28991257 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34212438 More...
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NCBI chr 8:113,500,708...113,541,179
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
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RGD |
PMID:30600684 |
RGD:14700919 |
NCBI chr 9:30,040,466...30,533,834
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G |
Bmp4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:SNP: :rs17563(human) |
RGD |
PMID:24131739 |
RGD:13442498 |
NCBI chr15:22,098,191...22,113,145
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G |
Ep300 |
E1A binding protein p300 |
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ISO |
ClinVar Annotator: match by term: Multicystic dysplastic kidney |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30143558 |
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NCBI chr 7:114,987,857...115,058,652
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G |
Pdgfa |
platelet derived growth factor subunit A |
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ISO |
mRNA, protein:increased expression:kidney |
RGD |
PMID:9200407 |
RGD:2298582 |
NCBI chr12:15,645,549...15,667,056
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
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ISO |
ClinVar Annotator: match by term: Multicystic dysplastic kidney |
ClinVar |
PMID:25741868 PMID:26467025 |
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NCBI chr10:13,573,779...13,621,138
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G |
Scaf4 |
SR-related CTD-associated factor 4 |
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ISO |
ClinVar Annotator: match by term: Multicystic dysplastic kidney |
ClinVar |
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NCBI chr11:29,460,479...29,521,153
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G |
Acad11 |
acyl-CoA dehydrogenase family, member 11 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,681,346...104,746,559
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G |
Ackr4 |
atypical chemokine receptor 4 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,716,537...104,720,972
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G |
Adamts9 |
ADAM metallopeptidase with thrombospondin type 1 motif, 9 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 PMID:30609407 |
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NCBI chr 4:125,290,633...125,462,988
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISS ISO |
ClinVar Annotator: match by term: Nephronophthisis |
MouseDO ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038 More...
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NCBI chr 1:17,580,859...17,711,775
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G |
Ajap1 |
adherens junctions associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 5:163,907,846...164,021,004
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G |
Alg2 |
ALG2, alpha-1,3/1,6-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:61,768,738...61,773,297
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G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:66,104,770...66,146,186
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G |
Anp32b |
acidic nuclear phosphoprotein 32 family member B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:65,538,872...65,561,305
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G |
Bfsp2 |
beaded filament structural protein 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:18371931 PMID:23559409 PMID:28492532 |
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NCBI chr 8:104,006,226...104,063,399
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
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NCBI chr14:71,563,835...71,648,352
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G |
Cep164 |
centrosomal protein 164 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:54,967,621...55,031,264
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:27491411 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28844315 PMID:28914264 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30478281 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31429209 PMID:31589614 PMID:31623504 PMID:31630094 PMID:31734136 PMID:31816670 PMID:31877679 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32531858 PMID:32581362 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33749171 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34426522 PMID:34691137 PMID:34906470 PMID:35764379 PMID:36369640 PMID:36460718 PMID:36909829 PMID:37510321 More...
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NCBI chr 7:37,196,765...37,285,955
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G |
Cep83 |
centrosomal protein 83 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:23530209 PMID:24882706 PMID:28492532 |
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NCBI chr 7:31,167,198...31,276,513
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G |
Cntrl |
centriolin |
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ISS |
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MouseDO |
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NCBI chr 3:18,428,147...18,500,362
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G |
Col15a1 |
collagen type XV alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:66,297,546...66,403,172
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G |
Coro2a |
coronin 2A |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,825,630...60,881,917
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:22425360 PMID:24178751 PMID:25741868 PMID:26092869 PMID:28087721 PMID:28125082 PMID:28431631 PMID:28492532 PMID:34008892 More...
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NCBI chr 2:58,996,119...59,096,817
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:70,906,587...71,102,596
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G |
Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 8:104,767,785...104,877,317
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G |
Erp44 |
endoplasmic reticulum protein 44 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:67,313,245...67,406,207
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G |
Evc |
EvC ciliary complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:77,680,901...77,722,608
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G |
Fam186b |
family with sequence similarity 186, member B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
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NCBI chr 7:130,408,830...130,424,261
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G |
Foxe1 |
forkhead box E1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,630,027...60,632,835
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:31,456,749...31,865,011
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G |
Gabbr2 |
gamma-aminobutyric acid type B receptor subunit 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,947,517...61,288,104
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G |
Galnt12 |
polypeptide N-acetylgalactosaminyltransferase 12 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:61,384,575...61,413,346
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:71,150,559...71,187,321
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G |
Glis2 |
GLIS family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 |
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NCBI chr10:11,457,594...11,484,948
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G |
Golgb1 |
golgin B1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15723066 PMID:20881296 PMID:28492532 |
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NCBI chr11:77,348,573...77,406,165
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G |
Hemgn |
hemogen |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,679,633...60,698,597
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G |
Ift140 |
intraflagellar transport 140 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22503633 PMID:25741868 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:28844315 PMID:29068549 PMID:29688594 PMID:29706353 PMID:30773290 More...
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NCBI chr10:14,537,134...14,624,926
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 |
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NCBI chr 6:30,801,841...30,841,239
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G |
Incenp |
inner centromere protein |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
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NCBI chr 1:206,520,655...206,550,575
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G |
Intu |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:27158779 PMID:28492532 |
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NCBI chr 2:125,528,965...125,613,295
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G |
Invs |
inversin |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
PMID:2702088 PMID:9536098 PMID:11935322 PMID:12872123 PMID:15852005 PMID:16199547 PMID:16522655 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19177160 PMID:20798123 PMID:21866095 PMID:22773737 PMID:23559409 PMID:23713026 PMID:24033266 PMID:24677454 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26489027 PMID:26862157 PMID:28492532 PMID:30029678 PMID:31131822 PMID:31308072 PMID:31328266 PMID:31706999 PMID:32173348 PMID:32335886 PMID:33323469 PMID:33532864 PMID:34031707 PMID:34295353 PMID:34298581 PMID:34426522 More...
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NCBI chr 5:67,406,511...67,559,355
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G |
Iqcb1 |
IQ motif containing B1 |
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ISO |
DNA:deletion, nonsense mutations, splice-site mutation:exon, intron:multiple ClinVar Annotator: match by term: Nephronophthisis ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 PMID:19430481 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:21901789 PMID:22183348 PMID:22261762 PMID:22773737 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24066033 PMID:24625443 PMID:24674142 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25851290 PMID:26274329 PMID:26673778 PMID:26766544 PMID:27506978 PMID:27624628 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28832562 PMID:29053603 PMID:29068479 PMID:29186038 PMID:29219953 PMID:29453417 PMID:30087219 PMID:30609409 PMID:30718709 PMID:31429209 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32531858 PMID:32581362 PMID:32865313 PMID:33535056 PMID:33749171 PMID:36460718 PMID:36819107 PMID:18076122 More...
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RGD:11537341 |
NCBI chr11:77,410,986...77,465,540
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30143558 |
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NCBI chr15:2,638,885...2,811,977
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G |
Kcnab2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chr 5:162,899,511...162,988,057
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G |
Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:21552264 PMID:25741868 PMID:28492532 |
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NCBI chr 1:143,041,206...143,067,873
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G |
Mall |
mal, T-cell differentiation protein-like |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:8852662 PMID:10620543 PMID:10839884 PMID:15138899 PMID:24746959 PMID:28492532 More...
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NCBI chr 3:135,381,180...135,404,136
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G |
Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20226561 PMID:20498079 PMID:21209035 PMID:25741868 PMID:25982971 PMID:28492532 More...
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NCBI chr 3:144,654,563...144,672,831
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G |
Nans |
N-acetylneuraminate synthase |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:60,780,441...60,797,583
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G |
Ncbp1 |
nuclear cap binding protein subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:65,211,632...65,244,532
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G |
Nipbl |
NIPBL, cohesin loading factor |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
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NCBI chr 2:57,399,443...57,586,770
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
DNA:deletions, nonsense mutations:cds:multiple ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17409309 PMID:17576681 PMID:17855640 PMID:18076122 PMID:19118152 PMID:19755384 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23559409 PMID:23661369 PMID:23757202 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25326637 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28002029 PMID:28492532 PMID:28559085 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31345219 PMID:31523374 PMID:31822006 PMID:32173348 PMID:32483926 PMID:33193692 PMID:36090483 PMID:17855640 More...
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RGD:11065524 |
NCBI chr 3:135,413,927...135,469,505
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple ClinVar Annotator: match by term: Nephronophthisis ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:9536098 PMID:10631142 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 PMID:18076122 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:23686967 PMID:24033266 PMID:24776604 PMID:25356970 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27491411 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28844315 PMID:28921755 PMID:28973083 PMID:28991257 PMID:29801666 PMID:30002499 PMID:30586318 PMID:31131822 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32173348 PMID:32502767 PMID:32552793 PMID:33323469 PMID:33532864 PMID:34013113 PMID:34031707 PMID:34212438 PMID:34426522 PMID:17855640 More...
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RGD:11065524 |
NCBI chr 8:113,500,708...113,541,179
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G |
Nphp4 |
nephrocystin 4 |
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ISO |
DNA:deletion, missense mutations, splice-site mutation:cds, intron:multiple ClinVar Annotator: match by term: Nephronophthisis ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 PMID:15776426 PMID:16199547 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:17954299 PMID:18076122 PMID:21068128 PMID:21546380 PMID:21866095 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23217326 PMID:23559409 PMID:23574405 PMID:24033266 PMID:24154662 PMID:25445212 PMID:25472526 PMID:25558065 PMID:25640679 PMID:25741868 PMID:25741916 PMID:26346198 PMID:26489029 PMID:26920127 PMID:27004616 PMID:27124789 PMID:27491411 PMID:27854218 PMID:28492532 PMID:28700940 PMID:29127258 PMID:30120289 PMID:30143558 PMID:30586318 PMID:31589614 PMID:31810733 PMID:31964843 PMID:32865313 PMID:34216551 PMID:34295353 PMID:34426522 PMID:34850017 PMID:36090483 PMID:36474027 PMID:17855640 More...
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RGD:11065524 |
NCBI chr 5:168,270,522...168,356,393
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G |
Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chr 5:67,157,141...67,198,287
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G |
Pias1 |
protein inhibitor of activated STAT, 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
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NCBI chr 8:63,338,150...63,451,670
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G |
Rbm48 |
RNA binding motif protein 48 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:26489029 |
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NCBI chr 4:30,559,063...30,569,409
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34196655 |
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NCBI chr 7:37,284,545...37,295,858
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G |
Rmnd1 |
required for meiotic nuclear division 1 homolog |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:28492532 PMID:28939701 PMID:29671881 PMID:31506229 PMID:31568715 PMID:32576985 More...
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NCBI chr 1:43,265,207...43,299,748
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
associated with Joubert Syndrome 7;DNA:mutations:exons: ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar RGD |
PMID:3442652 PMID:18414213 PMID:19430481 PMID:20301500 PMID:25741868 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31390572 PMID:32483926 PMID:17558409 More...
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RGD:11073359 |
NCBI chr19:31,865,050...31,957,930
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:71,360,840...71,479,870
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:70,710,862...70,845,569
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