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G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23793029 |
|
NCBI chrNW_004624825:2,157,158...2,214,115
Ensembl chrNW_004624825:2,157,158...2,212,971
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G |
Arl13b |
ARF like GTPase 13B |
|
ISO |
|
RGD |
PMID:27153923 |
RGD:11553938 |
NCBI chrNW_004624789:6,710,858...6,783,097
Ensembl chrNW_004624789:6,710,681...6,783,667
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G |
Bicc1 |
BicC family RNA binding protein 1 |
|
ISO |
|
MouseDO |
|
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NCBI chrNW_004624791:4,732,581...5,057,912
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G |
Cep290 |
centrosomal protein 290 |
|
ISO |
|
MouseDO |
|
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NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
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G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624730:70,173,024...70,185,492
Ensembl chrNW_004624730:70,170,003...70,186,031
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G |
Dnm2 |
dynamin 2 |
|
ISO |
|
MouseDO |
|
|
NCBI chrNW_004624828:2,727,136...2,805,248
Ensembl chrNW_004624828:2,727,112...2,807,319
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G |
Ephb4 |
EPH receptor B4 |
|
ISO |
|
MouseDO |
|
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NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
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G |
Fat4 |
FAT atypical cadherin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18604206 |
|
NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
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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...
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NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493
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G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17468754 |
|
NCBI chrNW_004624730:38,003,437...38,144,312
Ensembl chrNW_004624730:38,003,902...38,144,277
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G |
Ins |
insulin |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9879822 |
|
NCBI chrNW_004624767:14,999,088...15,000,035
Ensembl chrNW_004624767:14,999,088...15,000,035
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G |
Invs |
inversin |
|
ISO |
|
RGD |
PMID:24586938 |
RGD:155794377 |
NCBI chrNW_004624825:701,335...866,598
Ensembl chrNW_004624825:702,347...866,353
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G |
Lama5 |
laminin subunit alpha 5 |
|
ISO |
|
MouseDO |
|
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NCBI chrNW_004624741:28,156,956...28,217,133
Ensembl chrNW_004624741:28,157,172...28,217,113
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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...
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NCBI chrNW_004624786:1,303,283...1,314,188
Ensembl chrNW_004624786:1,303,308...1,314,188
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
DNA:missense mutation: :p.I614S (mouse) |
RGD |
PMID:18371931 |
RGD:11352488 |
NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
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G |
Pax2 |
paired box 2 |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
|
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NCBI chrNW_004624831:375,851...453,968
Ensembl chrNW_004624831:375,866...453,930
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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...
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NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 PMID:27225849 PMID:28492532 |
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NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324
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G |
Robo1 |
roundabout guidance receptor 1 |
|
ISO |
|
MouseDO |
|
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NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690
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G |
Rpgrip1l |
RPGRIP1 like |
|
ISO |
associated with Meckel Syndrome, Type 5;DNA:mutations:exons: |
RGD |
PMID:17558409 |
RGD:11073359 |
NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20835237 |
|
NCBI chrNW_004624771:15,898,172...16,116,013
Ensembl chrNW_004624771:15,896,661...16,115,375
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G |
Slit2 |
slit guidance ligand 2 |
|
ISO |
|
MouseDO |
|
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NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266
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G |
Tmem67 |
transmembrane protein 67 |
|
ISO |
ClinVar Annotator: match by term: Cystic kidney disease |
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...
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NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
|
MouseDO |
|
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NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Renal cyst |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624731:5,350,912...5,359,286
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G |
Angpt2 |
angiopoietin 2 |
|
ISO |
protein:increased expression:bile duct (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chrNW_004624861:4,457,519...4,510,035
Ensembl chrNW_004624861:4,457,158...4,509,623
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G |
Anks6 |
ankyrin repeat and sterile alpha motif domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089381 |
|
NCBI chrNW_004624825:2,157,158...2,214,115
Ensembl chrNW_004624825:2,157,158...2,212,971
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G |
Bicc1 |
BicC family RNA binding protein 1 |
|
ISO |
|
MouseDO |
|
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NCBI chrNW_004624791:4,732,581...5,057,912
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G |
Brd4 |
bromodomain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25877301 |
|
NCBI chrNW_004624901:2,348,218...2,434,429
Ensembl chrNW_004624901:2,346,734...2,380,852
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G |
Bricd5 |
BRICHOS domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624913:48,445...50,752
Ensembl chrNW_004624913:48,343...50,669
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G |
C9 |
complement C9 |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chrNW_004624759:15,534,743...15,623,767
Ensembl chrNW_004624759:15,534,660...15,624,381
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G |
Caskin1 |
CASK interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624913:62,217...79,228
Ensembl chrNW_004624913:62,332...77,819
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G |
Cd14 |
CD14 molecule |
disease_progression |
ISO |
protein:altered localization:kidney,urine |
RGD |
PMID:20555320 |
RGD:7204130 |
NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922
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G |
Cdkn1a |
cyclin dependent kinase inhibitor 1A |
|
ISO |
protein:decreased expression:kidney |
RGD |
PMID:17714589 |
RGD:2289666 |
NCBI chrNW_004624754:21,109,074...21,115,869
Ensembl chrNW_004624754:21,108,874...21,115,885
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G |
Cfb |
complement factor B |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chrNW_004624754:24,310,344...24,316,482
Ensembl chrNW_004624754:24,310,247...24,317,366
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G |
Dkk3 |
dickkopf WNT signaling pathway inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624766:4,042,307...4,085,613
Ensembl chrNW_004624766:4,041,816...4,085,209
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234
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G |
Dnajb11 |
DnaJ heat shock protein family (Hsp40) member B11 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
|
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NCBI chrNW_004624730:70,173,024...70,185,492
Ensembl chrNW_004624730:70,170,003...70,186,031
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624824:49,877...53,383
Ensembl chrNW_004624824:49,949...53,375
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G |
Dspp |
dentin sialophosphoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624872:4,096,001...4,102,392
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G |
E4f1 |
E4F transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624824:38,062...50,183
Ensembl chrNW_004624824:38,146...49,019
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G |
Edn1 |
endothelin 1 |
|
ISO |
mRNA, protein:increased expression:kidney (human) |
RGD |
PMID:12629276 |
RGD:4144854 |
NCBI chrNW_004624756:13,842,482...13,849,003
Ensembl chrNW_004624756:13,842,164...13,849,029
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G |
Fam13a |
family with sequence similarity 13 member A |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624757:16,414,473...16,763,716
Ensembl chrNW_004624757:16,415,981...16,502,956
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G |
Fos |
Fos proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
protein: increased expression: kidney |
RGD |
PMID:16049073 |
RGD:7242198 |
NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732
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Ganab |
glucosidase II alpha subunit |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
|
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NCBI chrNW_004624926:1,147,470...1,160,901
Ensembl chrNW_004624926:1,146,886...1,160,876
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G |
Gpbar1 |
G protein-coupled bile acid receptor 1 |
|
ISO |
mRNA,protein:increased expression: cholangiocyte |
RGD |
PMID:28543567 |
RGD:14700993 |
NCBI chrNW_004624823:6,766,816...6,769,490
Ensembl chrNW_004624823:6,766,816...6,769,473
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G |
Gprin3 |
GPRIN family member 3 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624757:16,931,759...17,007,924
Ensembl chrNW_004624757:16,938,060...16,940,276
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G |
Havcr1 |
hepatitis A virus cellular receptor 1 |
|
ISO |
protein:increased expression:kidney: |
RGD |
PMID:12388382 |
RGD:7245969 |
NCBI chrNW_004624733:32,284,793...32,310,980
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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 chrNW_004624757:16,232,912...16,402,489
Ensembl chrNW_004624757:16,232,982...16,404,902
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G |
Herc5 |
HECT and RLD domain containing E3 ubiquitin protein ligase 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624757:16,108,509...16,151,654
Ensembl chrNW_004624757:16,028,668...16,152,628
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G |
Hsd17b11 |
hydroxysteroid 17-beta dehydrogenase 11 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624872:3,881,066...3,904,560
Ensembl chrNW_004624872:3,880,517...3,904,561
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G |
Hsd17b13 |
hydroxysteroid 17-beta dehydrogenase 13 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624872:3,844,903...3,865,337
Ensembl chrNW_004624872:3,844,220...3,865,342
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G |
Ibsp |
integrin binding sialoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624872:4,324,812...4,333,080
Ensembl chrNW_004624872:4,322,330...4,333,080
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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...
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NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493
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G |
Il1rn |
interleukin 1 receptor antagonist |
|
ISO |
protein:decreased expression:urine (human) |
RGD |
PMID:9090470 |
RGD:6909172 |
NCBI chrNW_004624749:13,210,365...13,224,471
Ensembl chrNW_004624749:13,210,476...13,225,890
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G |
Itga8 |
integrin subunit alpha 8 |
|
ISO |
mRNA:increased expression:kidney |
RGD |
PMID:18277079 |
RGD:7257723 |
NCBI chrNW_004624796:11,908,927...12,103,806
Ensembl chrNW_004624796:11,908,964...12,101,139
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G |
Klhl8 |
kelch like family member 8 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624872:3,675,248...3,750,852
Ensembl chrNW_004624872:3,677,397...3,750,867
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G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
|
RGD |
PMID:11841627 |
RGD:1641842 |
NCBI chrNW_004624787:6,797,462...6,998,859
Ensembl chrNW_004624787:6,798,938...6,998,697
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G |
Lrp5 |
LDL receptor related protein 5 |
susceptibility |
ISO |
DNA:missense mutation:cds:multiple mutations (human) ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
RGD ClinVar |
PMID:25741868 PMID:25920554 PMID:28492532 |
RGD:11553546 |
NCBI chrNW_004624767:18,438,165...18,551,362
Ensembl chrNW_004624767:18,438,274...18,551,338
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G |
Lrp6 |
LDL receptor related protein 6 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624752:25,605,444...25,756,573
Ensembl chrNW_004624752:25,605,302...25,751,893
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G |
Mepe |
matrix extracellular phosphoglycoprotein |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624872:4,345,045...4,358,456
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G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624913:50,622...54,643
Ensembl chrNW_004624913:47,962...55,048
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G |
Mmp1 |
matrix metallopeptidase 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10644865 |
RGD:7207194 |
NCBI chrNW_004624878:71,642...79,660
Ensembl chrNW_004624878:71,642...79,602
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G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:10644865 |
RGD:7207194 |
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
|
RGD |
PMID:23195001 |
RGD:7245504 |
NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
mRNA:increased expression:kidney (mouse) CTD Direct Evidence: marker/mechanism |
RGD MouseDO CTD |
PMID:18356167 PMID:25877301 |
RGD:7207457 |
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
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G |
Nap1l5 |
nucleosome assembly protein 1 like 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624757:16,371,276...16,373,098
Ensembl chrNW_004624757:16,372,499...16,372,994
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
|
MouseDO |
|
|
NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
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G |
Nudt9 |
nudix hydrolase 9 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624872:3,928,078...3,962,030
Ensembl chrNW_004624872:3,928,146...3,962,030
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G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624913:45,439...48,259
Ensembl chrNW_004624913:45,499...49,060
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G |
Pigy |
phosphatidylinositol glycan anchor biosynthesis class Y |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624757:16,159,263...16,159,777
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G |
Pitx2 |
paired like homeodomain 2 |
|
ISO |
mRNA:increased expression:kidney |
RGD |
PMID:20926632 |
RGD:5131995 |
NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
severity |
ISO |
DNA:missense mutation:cds:p.R3277C (mouse) ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 |
RGD ClinVar |
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:12482949 PMID:15772804 PMID:16430766 PMID:17574468 PMID:17582161 PMID:18077784 PMID:18640754 PMID:18791038 PMID:18837007 PMID:19165178 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: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: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 More...
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RGD:7175280 |
NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
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G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
onset |
ISO |
DNA:mutations:multiple ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 |
RGD ClinVar |
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:12707387 PMID:12842373 PMID:14993477 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:25149526 PMID:25333066 PMID:25491204 PMID:25574838 PMID:25646624 PMID:25741868 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: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: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 More...
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RGD:7175273 |
NCBI chrNW_004624872:4,539,965...4,592,004
Ensembl chrNW_004624872:4,539,847...4,594,793
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
|
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 chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324
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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 chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481
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G |
Ppm1k |
protein phosphatase, Mg2+/Mn2+ dependent 1K |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624757:15,817,351...15,850,652
Ensembl chrNW_004624757:15,817,375...15,850,800
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G |
Pyurf |
PIGY upstream open reading frame |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624757:16,159,773...16,161,568
Ensembl chrNW_004624757:16,159,818...16,162,062
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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 chrNW_004624913:101,788...107,267
Ensembl chrNW_004624913:101,900...107,691
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
|
ISO |
protein:increased expression, increased activity:kidney |
RGD |
PMID:16221708 |
RGD:1643017 |
NCBI chrNW_004624871:1,667,292...1,705,550
Ensembl chrNW_004624871:1,667,291...1,702,783
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G |
Serping1 |
serpin family G member 1 |
disease_progression |
ISO |
protein:increased expression:urine |
RGD |
PMID:24494798 |
RGD:8661641 |
NCBI chrNW_004624864:3,091,397...3,103,084
Ensembl chrNW_004624864:3,091,083...3,103,090
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G |
Slc34a1 |
solute carrier family 34 member 1 |
disease_progression |
ISO |
mRNA, protein:altered expression:renal cortex (rat) |
RGD |
PMID:11004225 |
RGD:7242933 |
NCBI chrNW_004624733:12,685,544...12,699,908
Ensembl chrNW_004624733:12,685,546...12,699,901
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G |
Snca |
synuclein alpha |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624757:17,393,046...17,528,783
Ensembl chrNW_004624757:17,392,998...17,528,320
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G |
Sparcl1 |
SPARC like 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624872:3,981,166...4,015,843
Ensembl chrNW_004624872:3,981,072...3,997,533
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G |
Spp1 |
secreted phosphoprotein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 |
ClinVar |
PMID:17582161 PMID:22863349 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742
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G |
Stat6 |
signal transducer and activator of transcription 6 |
|
ISO |
protein:increased expression:kidney, epithelial cell |
RGD |
PMID:16399078 |
RGD:7243978 |
NCBI chrNW_004624802:10,809,234...10,847,762
Ensembl chrNW_004624802:10,809,252...10,846,693
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G |
Tigd2 |
tigger transposable element derived 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624757:16,764,224...16,767,526
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G |
Traf7 |
TNF receptor associated factor 7 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624913:79,423...100,301
Ensembl chrNW_004624913:79,423...100,279
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G |
Tsc2 |
TSC complex subunit 2 |
|
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 chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953
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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 chrNW_004624730:70,914,763...71,061,313
Ensembl chrNW_004624730:70,914,804...71,059,642
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G |
Umod |
uromodulin |
|
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 |
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 More...
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NCBI chrNW_004624782:3,639,955...3,654,026
Ensembl chrNW_004624782:3,640,214...3,652,324
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
mRNA:increased expression:kidney (rat) |
RGD |
PMID:20229187 PMID:20798958 |
RGD:12879406 RGD:2325220 |
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
protein:increased serine phosphorylation:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chrNW_004624734:507,880...525,295
Ensembl chrNW_004624734:509,368...525,295
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G |
Aqp1 |
aquaporin 1 (Colton blood group) |
|
ISO |
mRNA, protein:increased expression, altered location:bile duct, epithelial cell CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18988797 |
RGD:2307071 |
NCBI chrNW_004624783:164,615...177,317
Ensembl chrNW_004624783:164,609...177,766
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G |
Arl3 |
ARF like GTPase 3 |
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ISO |
OMIM:263200 |
MouseDO |
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NCBI chrNW_004624831:2,041,241...2,077,801
Ensembl chrNW_004624831:2,037,023...2,078,220
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G |
Bicc1 |
BicC family RNA binding protein 1 |
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ISO |
OMIM:263200 |
MouseDO |
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NCBI chrNW_004624791:4,732,581...5,057,912
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G |
C3 |
complement C3 |
|
ISO |
mRNA, protein:increased expression, increased activity:kidney |
RGD |
PMID:17960140 |
RGD:7175542 |
NCBI chrNW_004624828:3,773,816...3,798,077
Ensembl chrNW_004624828:3,770,221...3,797,946
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G |
Cd14 |
CD14 molecule |
severity |
ISO |
|
RGD |
PMID:20555320 |
RGD:7204130 |
NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922
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G |
Cdc25a |
cell division cycle 25A |
treatment |
ISO |
protein:increased expression:cholangiocyte: |
RGD |
PMID:22155366 |
RGD:14700990 |
NCBI chrNW_004624730:73,443,895...73,463,979
Ensembl chrNW_004624730:73,443,731...73,464,486
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G |
Cftr |
CF transmembrane conductance regulator |
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ISO |
mRNA, protein:increased expression:bile duct epithelium CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:18988797 |
RGD:2307071 |
NCBI chrNW_004624827:1,704,733...1,893,579
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
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 chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072
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G |
Dzip1l |
DAZ interacting zinc finger protein 1 like |
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ISO |
CTD Direct Evidence: marker/mechanism OMIM:263200 |
CTD MouseDO |
PMID:28530676 |
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NCBI chrNW_004624730:14,568,625...14,619,673
Ensembl chrNW_004624730:14,568,382...14,619,272
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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 chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271
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G |
Eln |
elastin |
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ISO |
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RGD |
PMID:21478483 |
RGD:7207865 |
NCBI chrNW_004624740:13,856,932...13,886,266
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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 chrNW_004624823:6,766,816...6,769,490
Ensembl chrNW_004624823:6,766,816...6,769,473
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G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
CTD Direct Evidence: marker/mechanism OMIM:263200 |
CTD MouseDO |
PMID:8191288 PMID:8608416 |
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NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
protein:increased serine phosphorylation:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chrNW_004624818:1,570,155...1,698,264
Ensembl chrNW_004624818:1,570,276...1,698,259
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
mRNA:increased expression:kidney (mouse) |
RGD |
PMID:3479800 |
RGD:7207453 |
NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806
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G |
Nek1 |
NIMA related kinase 1 |
|
ISO |
OMIM:263200 |
MouseDO |
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NCBI chrNW_004624769:945,788...1,146,921
Ensembl chrNW_004624769:945,644...1,147,246
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G |
Nek8 |
NIMA related kinase 8 |
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ISO |
OMIM:263200 |
MouseDO |
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NCBI chrNW_004624786:1,303,283...1,314,188
Ensembl chrNW_004624786:1,303,308...1,314,188
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12089381 |
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NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
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G |
Panx1 |
pannexin 1 |
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ISO |
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RGD |
PMID:31630543 |
RGD:14995937 |
NCBI chrNW_004624735:38,766,973...38,823,284
Ensembl chrNW_004624735:38,766,981...38,819,092
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
protein:increased expression:cholangiocyte |
RGD |
PMID:24498161 |
RGD:10040950 |
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
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G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease |
ClinVar |
PMID:25741868 PMID:26467025 PMID:29100090 PMID:32775833 PMID:33639313 |
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NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
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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 chrNW_004624872:4,539,965...4,592,004
Ensembl chrNW_004624872:4,539,847...4,594,793
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Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
susceptibility severity |
ISO |
DNA:splice site mutation:intron:IVS35-2A>T ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I DNA:missense mutations:cds: DNA:missense mutations, nonsense mutations: :multiple |
RGD ClinVar |
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:19021639 PMID:19176689 PMID:19914852 PMID:19940839 PMID:19940939 PMID:20301501 PMID:20413436 PMID:20460933 PMID:20575693 PMID:21228398 PMID:21274727 PMID:21407107 PMID:21493627 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 More...
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RGD:11062506 RGD:70439 |
NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324
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Sclt1 |
sodium channel and clathrin linker 1 |
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ISO |
OMIM:263200 |
MouseDO |
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NCBI chrNW_004624777:9,735,573...9,911,795
Ensembl chrNW_004624777:9,735,612...9,911,442
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Slc4a2 |
solute carrier family 4 member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane |
CTD RGD |
PMID:18988797 |
RGD:2307071 |
NCBI chrNW_004624800:5,545,380...5,560,789
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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 chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132
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Tmem67 |
transmembrane protein 67 |
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ISO |
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RGD |
PMID:11095650 PMID:15052665 PMID:30705305 |
RGD:1300514 RGD:14995942 RGD:15014788 |
NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
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Tsc1 |
TSC complex subunit 1 |
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ISO |
OMIM:263200 |
MouseDO |
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NCBI chrNW_004624760:3,479,028...3,536,612
Ensembl chrNW_004624760:3,498,692...3,532,011
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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 chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
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Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
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RGD |
PMID:27448803 |
RGD:13204792 |
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
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Tbx18 |
T-box transcription factor 18 |
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ISO |
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 ClinVar |
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 |
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NCBI chrNW_004624799:9,694,167...9,721,468
Ensembl chrNW_004624799:9,694,374...9,719,385
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Timp1 |
TIMP metallopeptidase inhibitor 1 |
treatment |
ISO |
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RGD |
PMID:27448803 |
RGD:13204792 |
NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912
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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 chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
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Agtr1 |
angiotensin II receptor type 1 |
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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 chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
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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 chrNW_004624791:4,732,581...5,057,912
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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 |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 PMID:31395617 More...
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NCBI chrNW_004624784:6,936,324...7,049,890
Ensembl chrNW_004624784:6,955,046...7,049,891
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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 chrNW_004624760:880,216...898,753
Ensembl chrNW_004624760:880,148...898,751
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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 chrNW_004624760:1,746,642...1,755,154
Ensembl chrNW_004624760:1,747,081...1,755,113
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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 chrNW_004624886:2,189,753...2,403,174
Ensembl chrNW_004624886:2,189,655...2,397,364
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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 chrNW_004624760:1,002,860...1,008,527
Ensembl chrNW_004624760:1,001,590...1,007,530
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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 chrNW_004624795:12,089,519...12,121,501
Ensembl chrNW_004624795:12,107,622...12,125,064
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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 chrNW_004624849:5,911,711...5,941,706
Ensembl chrNW_004624849:5,912,273...5,938,007
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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 chrNW_004624849:3,257,460...3,280,870
Ensembl chrNW_004624849:3,257,459...3,280,245
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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 chrNW_004624760:760,815...772,116
Ensembl chrNW_004624760:760,749...772,855
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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 chrNW_004624871:3,157,148...3,217,955
Ensembl chrNW_004624871:3,156,388...3,216,748
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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 chrNW_004624789:6,710,858...6,783,097
Ensembl chrNW_004624789:6,710,681...6,783,667
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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 chrNW_004624843:4,483,974...4,588,546
Ensembl chrNW_004624843:4,486,762...4,573,553
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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 chrNW_004624760:464,914...475,070
Ensembl chrNW_004624760:468,069...475,070
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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 chrNW_004624747:23,471,697...23,501,018
Ensembl chrNW_004624747:23,471,403...23,504,576
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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 chrNW_004624849:3,409,108...3,429,780
Ensembl chrNW_004624849:3,409,121...3,429,780
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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 chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221
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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 chrNW_004624907:177,031...183,776
Ensembl chrNW_004624907:176,827...184,574
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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 chrNW_004624871:2,444,262...3,036,148
Ensembl chrNW_004624871:2,444,952...3,034,311
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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 chrNW_004624871:2,051,044...2,195,364
Ensembl chrNW_004624871:2,052,863...2,198,165
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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 chrNW_004624755:16,123,705...16,161,814
Ensembl chrNW_004624755:16,134,640...16,150,816
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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 chrNW_004624817:2,880,775...3,060,399
Ensembl chrNW_004624817:2,880,976...3,042,004
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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 chrNW_004624760:937,871...939,655
Ensembl chrNW_004624760:937,871...939,466
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Ca4 |
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 chrNW_004624871:3,462,577...3,469,978
Ensembl chrNW_004624871:3,461,052...3,469,838
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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 chrNW_004624760:78,754...257,901
Ensembl chrNW_004624760:81,236...257,787
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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 chrNW_004624760:1,220,036...1,267,345
Ensembl chrNW_004624760:1,179,756...1,267,285
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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 chrNW_004624760:1,533,247...1,542,529
Ensembl chrNW_004624760:1,533,390...1,540,162
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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 chrNW_004624752:9,467,636...9,485,085
Ensembl chrNW_004624752:9,469,766...9,485,175
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
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 chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
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G |
Ccdc183 |
coiled-coil domain containing 183 |
|
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 chrNW_004624760:1,029,318...1,038,375
Ensembl chrNW_004624760:1,029,257...1,037,821
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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 |
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NCBI chrNW_004624755:16,035,412...16,093,610
Ensembl chrNW_004624755:16,034,771...16,093,866
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G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624818:6,712,616...6,737,377
Ensembl chrNW_004624818:6,716,695...6,737,883
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G |
Cep290 |
centrosomal protein 290 |
|
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 chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
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G |
Cep41 |
centrosomal protein 41 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624783:5,859,800...5,906,496
Ensembl chrNW_004624783:5,859,739...5,905,196
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G |
Cimip2a |
ciliary microtubule inner 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...
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NCBI chrNW_004624760:710,923...715,126
Ensembl chrNW_004624760:711,349...715,024
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G |
Clic3 |
chloride intracellular channel 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...
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NCBI chrNW_004624760:911,124...912,922
Ensembl chrNW_004624760:911,145...912,951
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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 chrNW_004624871:1,439,975...1,507,514
Ensembl chrNW_004624871:1,439,838...1,510,911
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G |
Cluap1 |
clusterin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 PMID:28679688 |
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NCBI chrNW_004624824:1,299,426...1,352,019
Ensembl chrNW_004624824:1,300,137...1,351,129
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G |
Coil |
coilin |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624795:11,994,664...12,006,594
Ensembl chrNW_004624795:11,994,541...12,006,912
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G |
Cops3 |
COP9 signalosome subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:4,125,188...4,150,933
Ensembl chrNW_004624849:4,124,586...4,150,933
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
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 chrNW_004624759:17,763,200...17,879,603
Ensembl chrNW_004624759:17,763,585...17,855,954
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G |
Cpsf7 |
cleavage and polyadenylation specific factor 7 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624926:802,033...822,372
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G |
Cuedc1 |
CUE domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624795:12,743,634...12,823,711
Ensembl chrNW_004624795:12,743,174...12,774,273
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G |
CUNH12orf50 |
chromosome unknown C12orf50 homolog |
|
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 chrNW_004624837:6,994,913...7,041,914
Ensembl chrNW_004624837:6,995,192...7,034,227
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G |
CUNH17orf67 |
chromosome unknown C17orf67 homolog |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624795:11,866,373...11,896,382
Ensembl chrNW_004624795:11,868,118...11,883,823
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G |
Cysrt1 |
cysteine rich tail 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 chrNW_004624760:730,245...731,559
Ensembl chrNW_004624760:730,492...731,379
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G |
Dgke |
diacylglycerol kinase epsilon |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624795:11,908,738...11,934,403
Ensembl chrNW_004624795:11,908,793...11,933,125
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G |
Dhx40 |
DEAH-box helicase 40 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:1,384,880...1,425,946
Ensembl chrNW_004624871:1,384,900...1,425,954
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G |
Dipk1b |
divergent protein kinase domain 1B |
|
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 chrNW_004624760:1,763,424...1,769,277
Ensembl chrNW_004624760:1,763,440...1,770,253
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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 chrNW_004624760:1,531,439...1,533,176
Ensembl chrNW_004624760:1,531,439...1,533,170
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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 chrNW_004624760:504,173...515,747
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G |
Dpp7 |
dipeptidyl peptidase 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 chrNW_004624760:825,992...829,670
Ensembl chrNW_004624760:826,218...830,636
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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 chrNW_004624849:3,429,932...3,466,172
Ensembl chrNW_004624849:3,429,932...3,466,481
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G |
Drg2 |
developmentally regulated GTP binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,352,124...3,370,288
Ensembl chrNW_004624849:3,351,963...3,370,229
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G |
Dynll2 |
dynein light chain LC8-type 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624795:12,932,425...12,940,503
Ensembl chrNW_004624795:12,932,460...12,940,498
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G |
Edf1 |
endothelial differentiation related factor 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 chrNW_004624760:986,820...990,019
Ensembl chrNW_004624760:986,822...990,019
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G |
Egfl6 |
EGF like domain multiple 6 |
|
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 chrNW_004624882:513,105...575,126
Ensembl chrNW_004624882:513,227...575,126
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G |
Egfl7 |
EGF like domain multiple 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 chrNW_004624760:1,737,001...1,746,496
Ensembl chrNW_004624760:1,738,942...1,746,226
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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 chrNW_004624760:271,397...463,462
Ensembl chrNW_004624760:272,493...379,780
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G |
Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624747:23,413,045...23,422,227
Ensembl chrNW_004624747:23,414,077...23,421,074
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 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 chrNW_004624760:859,598...865,194
Ensembl chrNW_004624760:859,637...866,804
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G |
Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
|
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 chrNW_004624760:597,580...603,523
Ensembl chrNW_004624760:599,156...603,520
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G |
Entr1 |
endosome associated trafficking regulator 1 |
|
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 chrNW_004624760:1,562,213...1,568,630
Ensembl chrNW_004624760:1,562,033...1,568,550
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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 |
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NCBI chrNW_004624849:5,520,279...5,632,152
Ensembl chrNW_004624849:5,577,679...5,633,008
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G |
Epx |
eosinophil peroxidase |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004624871:40,811...50,436
Ensembl chrNW_004624871:40,885...50,116
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G |
Exoc8 |
exocyst complex component 8 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:22700954 |
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NCBI chrNW_004624775:18,397,418...18,403,669
Ensembl chrNW_004624775:18,397,673...18,399,823
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G |
Fam149b1 |
family with sequence similarity 149 member B1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:30905400 |
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NCBI chrNW_004624754:6,861,455...6,912,991
Ensembl chrNW_004624754:6,861,636...6,911,340
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G |
Fam83g |
family with sequence similarity 83 member G |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:5,396,223...5,428,272
Ensembl chrNW_004624849:5,398,579...5,428,309
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G |
Fbxl5 |
F-box and leucine rich repeat protein 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624755:16,197,223...16,245,108
Ensembl chrNW_004624755:16,197,242...16,245,653
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G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
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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 chrNW_004624760:939,896...943,636
Ensembl chrNW_004624760:940,256...943,644
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G |
Flcn |
folliculin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:4,157,683...4,179,724
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G |
Flii |
FLII actin remodeling protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,213,988...3,227,734
Ensembl chrNW_004624849:3,214,042...3,227,476
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G |
Fto |
FTO alpha-ketoglutarate dependent dioxygenase |
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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 |
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NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480
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G |
Fut7 |
fucosyltransferase 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 chrNW_004624760:876,048...877,984
Ensembl chrNW_004624760:876,059...877,574
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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 chrNW_004624871:1,102,825...1,150,990
Ensembl chrNW_004624871:1,102,537...1,151,111
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G |
Gid4 |
GID complex subunit 4 homolog |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,385,312...3,408,842
Ensembl chrNW_004624849:3,386,101...3,408,924
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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 chrNW_004624760:1,507,255...1,529,170
Ensembl chrNW_004624760:1,507,242...1,529,163
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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 chrNW_004624849:5,441,806...5,468,300
Ensembl chrNW_004624849:5,441,749...5,468,276
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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 chrNW_004624760:777,208...800,525
Ensembl chrNW_004624760:776,873...801,354
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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 chrNW_004624747:23,422,289...23,437,193
Ensembl chrNW_004624747:23,422,319...23,435,926
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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 chrNW_004624871:4,789,695...4,825,516
Ensembl chrNW_004624871:4,790,118...4,825,485
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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 chrNW_004624871:262,288...302,311
Ensembl chrNW_004624871:263,794...301,574
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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 chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933
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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 |
OMIM ClinVar |
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 chrNW_004624760:1,586,003...1,594,869
Ensembl chrNW_004624760:1,586,848...1,594,835
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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 chrNW_004624757:2,543,968...2,547,452
Ensembl chrNW_004624757:2,543,992...2,547,464
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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 chrNW_004624757:1,962,574...1,966,330
Ensembl chrNW_004624757:1,947,032...1,966,352
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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 chrNW_004624757:1,617,674...1,623,928
Ensembl chrNW_004624757:1,619,023...1,622,800
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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 chrNW_004624782:12,141,512...12,320,673
Ensembl chrNW_004624782:12,141,591...12,320,909
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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 chrNW_004624760:1,167,489...1,209,155
Ensembl chrNW_004624760:1,167,641...1,209,802
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G |
Kiaa0586 |
KIAA0586 ortholog |
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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 chrNW_004624884:3,477,240...3,624,420
Ensembl chrNW_004624884:3,478,065...3,625,711
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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 chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707
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G |
Kitlg |
KIT ligand |
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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 chrNW_004624837:7,456,116...7,541,764
Ensembl chrNW_004624837:7,456,120...7,541,730
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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 chrNW_004624760:1,070,637...1,074,260
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G |
Lcn15 |
lipocalin 15 |
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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 chrNW_004624760:1,047,585...1,050,735
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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 chrNW_004624760:1,066,532...1,070,083
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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 chrNW_004624760:1,052,765...1,055,559
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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 chrNW_004624760:1,143,457...1,145,561
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G |
Lcnl1 |
lipocalin 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 chrNW_004624760:917,617...920,100
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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 chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414
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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 chrNW_004624849:3,227,518...3,245,137
Ensembl chrNW_004624849:3,227,758...3,245,118
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G |
LOC101708454 |
cytochrome b ascorbate-dependent protein 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624926:835,341...861,866
Ensembl chrNW_004624926:853,055...861,123
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G |
LOC101713237 |
olfactory receptor 4D2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:30,786...31,721
Ensembl chrNW_004624871:30,786...31,721
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G |
Lpo |
lactoperoxidase |
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ISO |
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:99,159...119,745
Ensembl chrNW_004624871:105,245...119,283
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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 chrNW_004624760:774,137...777,095
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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 chrNW_004624730:47,825,142...47,863,868
Ensembl chrNW_004624730:47,825,290...47,864,440
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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 chrNW_004624760:813,657...826,020
Ensembl chrNW_004624760:813,045...825,153
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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 chrNW_004624849:5,655,631...5,661,779
Ensembl chrNW_004624849:5,656,515...5,664,721
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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 chrNW_004624849:3,920,046...3,934,748
Ensembl chrNW_004624849:3,920,268...3,934,777
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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 |
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NCBI chrNW_004624849:5,661,916...5,665,290
Ensembl chrNW_004624849:5,661,920...5,664,970
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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 chrNW_004624740:26,928,330...26,947,671
Ensembl chrNW_004624740:26,928,449...26,946,957
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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 chrNW_004624849:3,207,698...3,213,121
Ensembl chrNW_004624849:3,207,606...3,212,671
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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 chrNW_004624871:50,688...63,772
Ensembl chrNW_004624871:51,122...63,742
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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 chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
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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 |
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NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323
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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 |
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NCBI chrNW_004624849:4,231,802...4,368,355
Ensembl chrNW_004624849:4,237,118...4,368,355
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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 chrNW_004624760:517,200...518,805
Ensembl chrNW_004624760:517,200...518,884
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Mrps2 |
mitochondrial ribosomal protein S2 |
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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 chrNW_004624760:3,112,670...3,115,621
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Mrps23 |
mitochondrial ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624795:12,727,524...12,733,542
Ensembl chrNW_004624795:12,727,261...12,736,042
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G |
Msi2 |
musashi RNA 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 chrNW_004624795:12,230,756...12,603,360
Ensembl chrNW_004624795:12,230,802...12,596,419
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Mtmr4 |
myotubularin related protein 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:302,589...328,773
Ensembl chrNW_004624871:302,588...328,623
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G |
Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759
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G |
Nacc2 |
NACC family 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 chrNW_004624760:1,319,092...1,386,692
Ensembl chrNW_004624760:1,318,993...1,349,810
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Ndor1 |
NADPH dependent diflavin oxidoreductase 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 chrNW_004624760:738,110...746,417
Ensembl chrNW_004624760:737,583...746,357
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G |
Nelfb |
negative elongation factor complex member 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 chrNW_004624760:692,735...703,571
Ensembl chrNW_004624760:692,735...705,328
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G |
Nog |
noggin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051
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Notch1 |
notch receptor 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 chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
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Noxa1 |
NADPH oxidase activator 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 chrNW_004624760:602,403...610,775
Ensembl chrNW_004624760:603,528...610,942
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G |
Npdc1 |
neural proliferation, differentiation and control 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 chrNW_004624760:866,358...871,572
Ensembl chrNW_004624760:866,570...871,305
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:24746959 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624749:1,725,515...1,779,787
Ensembl chrNW_004624749:1,725,598...1,779,344
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Nrarp |
NOTCH regulated ankyrin repeat protein |
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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 chrNW_004624760:670,796...672,679
Ensembl chrNW_004624760:670,837...671,181
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Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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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 chrNW_004624760:575,805...583,410
Ensembl chrNW_004624760:574,920...583,410
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Nt5m |
5',3'-nucleotidase, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:4,031,421...4,098,326
Ensembl chrNW_004624849:4,052,050...4,098,149
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Ofd1 |
OFD1 centriole and centriolar satellite protein |
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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-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...
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NCBI chrNW_004624882:376,447...417,066
Ensembl chrNW_004624882:376,556...416,509
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Paxx |
PAXX non-homologous end joining factor |
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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 chrNW_004624760:912,953...914,793
Ensembl chrNW_004624760:913,574...914,708
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G |
Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:20232449 PMID:23559409 PMID:28492532 |
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NCBI chrNW_004624763:1,356,193...1,364,643
Ensembl chrNW_004624763:1,356,588...1,365,726
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G |
Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25558065 PMID:27894351 |
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NCBI chrNW_004624746:12,426,081...12,492,966
Ensembl chrNW_004624746:12,423,917...12,492,966
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G |
Pemt |
phosphatidylethanolamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,818,115...3,907,250
Ensembl chrNW_004624849:3,817,915...3,908,888
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:26167768 PMID:28492532 |
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NCBI chrNW_004624751:27,543,768...27,760,536
Ensembl chrNW_004624751:27,543,702...27,759,271
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G |
Pld6 |
phospholipase D family member 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:4,202,398...4,245,217
Ensembl chrNW_004624849:4,224,986...4,227,755
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
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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 chrNW_004624760:1,568,655...1,576,273
Ensembl chrNW_004624760:1,568,710...1,575,867
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G |
Pnpla7 |
patatin like phospholipase domain containing 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 chrNW_004624760:521,145...575,431
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G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent 1D |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:3,044,718...3,089,042
Ensembl chrNW_004624871:3,044,102...3,088,981
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G |
Ppm1e |
protein phosphatase, Mg2+/Mn2+ dependent 1E |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:753,327...902,384
Ensembl chrNW_004624871:753,292...898,362
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G |
Prom1 |
prominin 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348
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G |
Prpsap2 |
phosphoribosyl pyrophosphate synthetase associated 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 chrNW_004624849:5,298,389...5,334,161
Ensembl chrNW_004624849:5,298,410...5,334,161
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Prr11 |
proline rich 11 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:1,049,663...1,086,751
Ensembl chrNW_004624871:1,050,049...1,085,982
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G |
Ptgds |
prostaglandin D2 synthase |
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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 chrNW_004624760:920,292...923,174
Ensembl chrNW_004624760:920,877...923,283
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G |
Ptrh2 |
peptidyl-tRNA hydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:1,511,486...1,519,673
Ensembl chrNW_004624871:1,511,486...1,519,567
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G |
Qsox2 |
quiescin sulfhydryl oxidase 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 chrNW_004624760:1,436,169...1,459,522
Ensembl chrNW_004624760:1,435,969...1,459,578
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Rab9a |
RAB9A, member RAS oncogene family |
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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 chrNW_004624882:435,877...489,691
Ensembl chrNW_004624882:435,879...463,069
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Rabl6 |
RAB, member RAS oncogene family like 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 chrNW_004624760:1,008,723...1,029,070
Ensembl chrNW_004624760:1,009,270...1,028,929
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Rad51c |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:708,048...746,753
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G |
Rai1 |
retinoic acid induced 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,624,436...3,749,276
Ensembl chrNW_004624849:3,625,882...3,640,671
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Rasd1 |
ras related dexamethasone induced 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,916,898...3,918,904
Ensembl chrNW_004624849:3,916,907...3,920,212
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G |
Rcor1 |
REST corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:26489029 |
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NCBI chrNW_004624734:1,866,886...1,972,685
Ensembl chrNW_004624734:1,866,830...1,972,986
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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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: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...
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NCBI chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160
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G |
Rnf112 |
ring finger protein 112 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:5,698,937...5,706,316
Ensembl chrNW_004624849:5,699,839...5,706,826
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G |
Rnf208 |
ring finger protein 208 |
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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 chrNW_004624760:733,711...735,605
Ensembl chrNW_004624760:734,629...735,435
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G |
Rnf224 |
ring finger protein 224 |
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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 chrNW_004624760:726,458...728,605
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G |
Rnf43 |
ring finger protein 43 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:191,534...259,134
Ensembl chrNW_004624871:191,546...259,120
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G |
Rnft1 |
ring finger protein, transmembrane 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:1,707,570...1,721,026
Ensembl chrNW_004624871:1,707,509...1,721,078
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G |
Rpgrip1l |
RPGRIP1 like |
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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: 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 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...
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NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:1,667,292...1,705,550
Ensembl chrNW_004624871:1,667,291...1,702,783
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Sapcd2 |
suppressor APC domain containing 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 chrNW_004624760:843,746...848,104
Ensembl chrNW_004624760:843,760...847,327
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Scpep1 |
serine carboxypeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624795:12,016,363...12,041,615
Ensembl chrNW_004624795:12,016,302...12,042,353
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Sdhaf2 |
succinate dehydrogenase 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 chrNW_004624926:792,172...802,838
Ensembl chrNW_004624926:792,173...801,954
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Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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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 chrNW_004624760:1,595,021...1,628,985
Ensembl chrNW_004624760:1,594,899...1,629,409
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Septin4 |
septin 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:330,225...402,327
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Shmt1 |
serine hydroxymethyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,108,875...3,146,669
Ensembl chrNW_004624849:3,114,876...3,146,248
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Slc34a3 |
solute carrier family 34 member 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 chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551
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Slc47a1 |
solute carrier family 47 member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:5,775,925...5,831,941
Ensembl chrNW_004624849:5,776,180...5,830,871
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Slc5a10 |
solute carrier family 5 member 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:5,364,527...5,441,805
Ensembl chrNW_004624849:5,368,343...5,441,797
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Smcr8 |
SMCR8-C9orf72 complex subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,147,251...3,159,358
Ensembl chrNW_004624849:3,149,121...3,159,273
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Smg8 |
SMG8 nonsense mediated mRNA decay factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624871:1,094,686...1,100,633
Ensembl chrNW_004624871:1,094,710...1,100,633
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Snapc4 |
small nuclear RNA activating complex polypeptide 4 |
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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 chrNW_004624760:1,542,979...1,561,164
Ensembl chrNW_004624760:1,543,498...1,561,178
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Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 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 chrNW_004624760:1,154,848...1,159,341
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Srebf1 |
sterol regulatory element binding transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624849:3,602,103...3,623,922
Ensembl chrNW_004624849:3,602,261...3,623,465
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Ssna1 |
SS nuclear autoantigen 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 chrNW_004624760:759,471...760,797
Ensembl chrNW_004624760:759,469...760,797
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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 chrNW_004624760:703,733...707,880
Ensembl chrNW_004624760:705,486...706,898
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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 chrNW_004624871:183,495...189,838
Ensembl chrNW_004624871:184,298...189,798
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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 chrNW_004624755:15,639,200...15,698,828
Ensembl chrNW_004624755:15,639,136...15,699,006
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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 chrNW_004624871:2,428,757...2,437,447
Ensembl chrNW_004624871:2,429,407...2,437,447
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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 chrNW_004624871:2,365,836...2,390,269
Ensembl chrNW_004624871:2,366,823...2,390,269
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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 chrNW_004624882:482,046...491,794
Ensembl chrNW_004624882:482,345...483,406
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Tctn1 |
tectonic family member 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: 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 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: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 chrNW_004624747:21,259,515...21,300,180
Ensembl chrNW_004624747:21,265,197...21,300,149
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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 chrNW_004624747:23,439,647...23,470,470
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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 chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
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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 chrNW_004624882:1,375,216...1,379,705
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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 chrNW_004624882:1,240,519...1,247,311
Ensembl chrNW_004624882:1,240,626...1,312,468
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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 chrNW_004624926:847,402...852,721
Ensembl chrNW_004624926:847,745...850,718
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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 chrNW_004624760:1,038,579...1,040,250
Ensembl chrNW_004624760:1,038,579...1,040,239
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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 chrNW_004624762:10,970,048...10,975,736
Ensembl chrNW_004624762:10,969,765...10,976,870
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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 chrNW_004624760:746,451...747,960
Ensembl chrNW_004624760:746,671...747,081
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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 chrNW_004624926:823,187...829,308
Ensembl chrNW_004624926:825,458...828,079
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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 chrNW_004624927:1,137,223...1,163,880
Ensembl chrNW_004624927:1,136,636...1,163,757
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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 chrNW_004624746:11,411,050...11,427,945
Ensembl chrNW_004624746:11,411,107...11,427,943
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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 chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737
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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 chrNW_004624760:1,383,478...1,386,722
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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 chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
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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 chrNW_004624882:1,198,099...1,200,237
Ensembl chrNW_004624882:1,198,099...1,200,201
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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 chrNW_004624837:7,139,006...7,205,077
Ensembl chrNW_004624837:7,138,419...7,190,194
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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 chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593
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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 chrNW_004624731:23,465,516...23,542,960
Ensembl chrNW_004624731:23,461,859...23,542,950
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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 chrNW_004624849:3,466,572...3,594,397
Ensembl chrNW_004624849:3,466,520...3,594,738
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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 chrNW_004624849:3,159,432...3,196,235
Ensembl chrNW_004624849:3,159,810...3,194,860
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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 chrNW_004624760:686,754...692,557
Ensembl chrNW_004624760:686,768...690,397
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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 chrNW_004624760:750,833...758,329
Ensembl chrNW_004624760:750,871...758,433
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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 chrNW_004624760:952,574...973,511
Ensembl chrNW_004624760:952,574...965,661
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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 chrNW_004624882:417,101...431,170
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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 chrNW_004624795:11,967,908...11,986,707
Ensembl chrNW_004624795:11,971,610...11,986,608
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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 chrNW_004624871:899,931...1,049,583
Ensembl chrNW_004624871:912,140...1,021,354
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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 chrNW_004624871:139,513...165,564
Ensembl chrNW_004624871:140,612...165,411
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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 chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895
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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 chrNW_004624760:715,013...717,462
Ensembl chrNW_004624760:712,987...717,951
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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 chrNW_004624871:1,619,385...1,667,128
Ensembl chrNW_004624871:1,643,288...1,666,030
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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 chrNW_004624877:3,536,540...3,631,960
Ensembl chrNW_004624877:3,516,159...3,631,561
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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 chrNW_004624760:834,605...839,983
Ensembl chrNW_004624760:834,606...839,970
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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 chrNW_004624760:1,278,395...1,294,403
Ensembl chrNW_004624760:1,278,286...1,294,482
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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 chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640
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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 chrNW_004624871:3,275,272...3,444,837
Ensembl chrNW_004624871:3,275,240...3,443,307
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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 chrNW_004624795:12,837,197...12,871,169
Ensembl chrNW_004624795:12,836,089...12,853,589
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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 chrNW_004624871:1,519,662...1,626,040
Ensembl chrNW_004624871:1,519,764...1,625,034
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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 chrNW_004624762:9,901,021...10,303,217
Ensembl chrNW_004624762:9,970,904...10,303,046
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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 chrNW_004624871:1,197,276...1,261,404
Ensembl chrNW_004624871:1,197,319...1,258,373
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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 chrNW_004624760:495,430...501,645
Ensembl chrNW_004624760:494,771...503,301
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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 |
OMIM ClinVar |
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 More...
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NCBI chrNW_004624926:823,187...829,308
Ensembl chrNW_004624926:825,458...828,079
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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 chrNW_004624886:2,189,753...2,403,174
Ensembl chrNW_004624886:2,189,655...2,397,364
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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 chrNW_004624749:1,795,238...1,820,900
Ensembl chrNW_004624749:1,795,222...1,820,995
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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 |
OMIM ClinVar |
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 More...
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NCBI chrNW_004624749:1,725,515...1,779,787
Ensembl chrNW_004624749:1,725,598...1,779,344
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G |
Nphp4 |
nephrocystin 4 |
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ISO |
DNA:mutations:exon, intron:multiple |
RGD |
PMID:15776426 |
RGD:11068164 |
NCBI chrNW_004624818:5,325,946...5,432,290
Ensembl chrNW_004624818:5,327,038...5,432,901
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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 chrNW_004624872:4,539,965...4,592,004
Ensembl chrNW_004624872:4,539,847...4,594,793
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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 chrNW_004624825:7,289,385...7,366,388
Ensembl chrNW_004624825:7,296,662...7,366,196
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G |
Rpgrip1l |
RPGRIP1 like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
OMIM ClinVar |
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 More...
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NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
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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 chrNW_004624798:3,332,549...3,414,435
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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 chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318
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G |
Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Renal cysts and diabetes syndrome |
OMIM ClinVar |
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 chrNW_004624871:4,662,104...4,713,125
Ensembl chrNW_004624871:4,661,669...4,712,960
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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 chrNW_004624818:3,900,917...3,915,457
Ensembl chrNW_004624818:3,900,917...3,911,042
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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 chrNW_004624831:375,851...453,968
Ensembl chrNW_004624831:375,866...453,930
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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 chrNW_004624800:4,969,010...5,207,941
Ensembl chrNW_004624800:4,968,866...5,207,501
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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 chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221
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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 chrNW_004624907:177,031...183,776
Ensembl chrNW_004624907:176,827...184,574
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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 chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
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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 chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
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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 chrNW_004624744:24,145,480...24,286,931
Ensembl chrNW_004624744:24,146,096...24,287,002
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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 chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480
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G |
Hoxb6 |
homeobox B6 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004624795:5,093,911...5,102,401
Ensembl chrNW_004624795:5,093,858...5,102,868
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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 ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
OMIM 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: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 More...
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NCBI chrNW_004624871:50,688...63,772
Ensembl chrNW_004624871:51,122...63,742
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 PMID:34196655 |
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NCBI chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160
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G |
Rpgrip1l |
RPGRIP1 like |
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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 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 chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
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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 chrNW_004624747:21,259,515...21,300,180
Ensembl chrNW_004624747:21,265,197...21,300,149
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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 chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359
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G |
Tmem231 |
transmembrane protein 231 |
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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 chrNW_004624746:11,411,050...11,427,945
Ensembl chrNW_004624746:11,411,107...11,427,943
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G |
Tmem67 |
transmembrane protein 67 |
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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 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 |
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 chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
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G |
Kif14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: KIF14-related condition | ClinVar Annotator: match by term: Meckel syndrome 12 |
OMIM ClinVar |
PMID:16199547 PMID:23308235 PMID:24128419 PMID:25741868 PMID:28492532 PMID:29343805 PMID:30388224 More...
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NCBI chrNW_004624807:10,093,518...10,144,484
Ensembl chrNW_004624807:10,092,934...10,143,399
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G |
Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome 13 |
OMIM ClinVar |
PMID:25741868 PMID:26123494 PMID:26595381 |
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NCBI chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 |
OMIM ClinVar |
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 More...
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NCBI chrNW_004624926:823,187...829,308
Ensembl chrNW_004624926:825,458...828,079
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 |
OMIM ClinVar |
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 More...
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NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
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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 |
OMIM ClinVar |
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 More...
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NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
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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 chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160
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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 chrNW_004624927:1,137,223...1,163,880
Ensembl chrNW_004624927:1,136,636...1,163,757
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G |
Rpgrip1l |
RPGRIP1 like |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 5 |
OMIM ClinVar |
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 chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
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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 |
OMIM ClinVar |
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 chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
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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 chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
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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 chrNW_004624747:23,439,647...23,470,470
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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 |
OMIM ClinVar |
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 chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
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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 chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324
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G |
Bmp4 |
bone morphogenetic protein 4 |
susceptibility |
ISO |
DNA:SNP: :rs17563(human) |
RGD |
PMID:24131739 |
RGD:13442498 |
NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743
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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 chrNW_004624740:26,172,808...26,191,557
Ensembl chrNW_004624740:26,169,064...26,188,866
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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 chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
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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 chrNW_004624745:20,040,416...20,097,764
Ensembl chrNW_004624745:20,040,770...20,097,835
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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 chrNW_004624730:8,704,458...8,792,678
Ensembl chrNW_004624730:8,704,350...8,792,741
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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 chrNW_004624730:8,732,124...8,738,968
Ensembl chrNW_004624730:8,733,586...8,738,961
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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 chrNW_004624888:1,333,534...1,474,776
Ensembl chrNW_004624888:1,333,714...1,474,897
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 PMID:28442542 PMID:28492532 PMID:29186038 More...
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NCBI chrNW_004624886:2,189,753...2,403,174
Ensembl chrNW_004624886:2,189,655...2,397,364
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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 chrNW_004624818:6,214,846...6,318,347
Ensembl chrNW_004624818:6,214,907...6,318,333
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G |
Alg2 |
ALG2 alpha-1,3/1,6-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chrNW_004624825:1,771,408...1,775,950
Ensembl chrNW_004624825:1,771,530...1,777,711
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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 chrNW_004624825:2,157,158...2,214,115
Ensembl chrNW_004624825:2,157,158...2,212,971
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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 chrNW_004624825:2,814,758...2,844,008
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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 chrNW_004624730:9,685,568...9,772,984
Ensembl chrNW_004624730:9,685,568...9,772,984
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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 chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
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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 chrNW_004624784:12,754,685...12,837,440
Ensembl chrNW_004624784:12,773,870...12,836,107
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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 chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
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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 chrNW_004624750:12,533,644...12,638,701
Ensembl chrNW_004624750:12,533,762...12,638,059
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G |
Cntrl |
centriolin |
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ISO |
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MouseDO |
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NCBI chrNW_004624760:14,098,553...14,178,745
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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 chrNW_004624825:1,939,685...2,041,575
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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 chrNW_004624825:2,682,632...2,749,202
Ensembl chrNW_004624825:2,712,489...2,749,806
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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 chrNW_004624759:17,763,200...17,879,603
Ensembl chrNW_004624759:17,763,585...17,855,954
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 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 chrNW_004624787:3,308,502...3,506,450
Ensembl chrNW_004624787:3,308,484...3,500,852
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G |
Dnajc13 |
DnaJ heat shock protein family (Hsp40) member C13 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318
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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 chrNW_004624825:865,901...962,661
Ensembl chrNW_004624825:866,077...959,146
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G |
Evc |
EvC ciliary complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624755:22,432,174...22,478,595
Ensembl chrNW_004624755:22,437,167...22,478,591
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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 chrNW_004624816:2,641,679...2,657,740
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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 chrNW_004624825:2,979,447...2,981,412
Ensembl chrNW_004624825:2,980,176...2,981,303
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G |
Fto |
FTO alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480
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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 chrNW_004624825:2,233,759...2,608,159
Ensembl chrNW_004624825:2,233,759...2,610,255
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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 chrNW_004624825:2,075,471...2,144,869
Ensembl chrNW_004624825:2,116,681...2,156,768
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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 chrNW_004624787:3,557,946...3,613,235
Ensembl chrNW_004624787:3,559,903...3,591,615
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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 chrNW_004624824:2,106,261...2,127,740
Ensembl chrNW_004624824:2,098,384...2,127,733
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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 chrNW_004624731:26,438,529...26,526,205
Ensembl chrNW_004624731:26,455,126...26,526,316
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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 chrNW_004624825:2,879,160...2,899,636
Ensembl chrNW_004624825:2,888,131...2,900,752
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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 chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493
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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 chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933
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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 chrNW_004624926:405,354...422,492
Ensembl chrNW_004624926:407,362...419,566
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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 chrNW_004624777:8,585,777...8,674,887
Ensembl chrNW_004624777:8,596,178...8,675,295
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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 chrNW_004624825:701,335...866,598
Ensembl chrNW_004624825:702,347...866,353
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G |
Iqcb1 |
IQ motif containing B1 |
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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: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 More...
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NCBI chrNW_004624912:56,209...112,766
Ensembl chrNW_004624912:56,946...113,438
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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 chrNW_004624754:8,204,266...8,391,328
Ensembl chrNW_004624754:8,204,943...8,392,724
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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 chrNW_004624818:5,251,304...5,326,796
Ensembl chrNW_004624818:5,253,773...5,327,000
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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 chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707
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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 chrNW_004624749:1,795,238...1,820,900
Ensembl chrNW_004624749:1,795,222...1,820,995
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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 chrNW_004624741:11,323,935...11,447,669
Ensembl chrNW_004624741:11,425,368...11,435,706
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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 chrNW_004624825:2,771,301...2,795,813
Ensembl chrNW_004624825:2,771,057...2,795,815
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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 chrNW_004624825:3,166,895...3,206,444
Ensembl chrNW_004624825:3,164,700...3,206,241
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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 chrNW_004624759:17,899,152...18,078,213
Ensembl chrNW_004624759:17,899,152...17,999,295
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G |
Nphp1 |
nephrocystin 1 |
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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: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 More...
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NCBI chrNW_004624749:1,725,515...1,779,787
Ensembl chrNW_004624749:1,725,598...1,779,344
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
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 More...
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NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
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G |
Nphp4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
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 More...
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NCBI chrNW_004624818:5,325,946...5,432,290
Ensembl chrNW_004624818:5,327,038...5,432,901
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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 chrNW_004624825:1,098,915...1,141,373
Ensembl chrNW_004624825:1,097,432...1,141,446
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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 chrNW_004624781:4,893,308...5,046,928
Ensembl chrNW_004624781:4,893,308...5,046,582
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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 chrNW_004624809:659,060...668,126
Ensembl chrNW_004624809:638,253...668,038
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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 chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160
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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 chrNW_004624785:6,814,901...6,856,643
Ensembl chrNW_004624785:6,822,268...6,857,035
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G |
Rpgrip1l |
RPGRIP1 like |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 |
ClinVar |
PMID:3442652 PMID:18414213 PMID:19430481 PMID:20301500 PMID:25741868 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31390572 PMID:32483926 More...
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NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
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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 chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 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 chrNW_004624732:222,657...330,959
Ensembl chrNW_004624732:251,860...328,917
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G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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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 chrNW_004624787:3,995,319...4,148,230
Ensembl chrNW_004624787:3,997,887...4,085,449
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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
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MouseDO |
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NCBI chrNW_004624771:15,898,172...16,116,013
Ensembl chrNW_004624771:15,896,661...16,115,375
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G |
Sec61b |
SEC61 translocon subunit beta |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:12872123 PMID:28492532 |
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NCBI chrNW_004624825:1,762,735...1,771,271
Ensembl chrNW_004624825:1,762,734...1,771,233
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G |
Srgap1 |
SLIT-ROBO Rho GTPase activating protein 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |
ClinVar |
PMID:25741868 PMID:26026792 PMID:30143558 |
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NCBI chrNW_004624802:4,164,969...4,472,491
Ensembl chrNW_004624802:4,165,054...4,472,293
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G |
Stx17 |
syntaxin 17 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis |