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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cystic kidney disease
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Accession:DOID:2975 term browser browse the term
Definition:A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC).
Synonyms:exact_synonym: Cystic Kidneys;   Cystic Renal Disease;   Cystic Renal Diseases;   cystic kidney;   cystic kidney diseases
 narrow_synonym: Complex Cyst of Kidney;   FAMILIAL CYSTIC RENAL DISEASE;   KIDNEY CYST;   Simple Cyst of Kidney;   renal cyst
 primary_id: MESH:D052177
 xref: EFO:0008615;   EFO:0008616;   EFO:0008619;   EFO:1000313
For additional species annotation, visit the Alliance of Genome Resources.


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cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISO MouseDO NCBI chrNW_004624791:4,732,581...5,057,912 JBrowse link
G Cep290 centrosomal protein 290 ISO MouseDO NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
JBrowse link
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
JBrowse link
G Dnm2 dynamin 2 ISO MouseDO NCBI chrNW_004624828:2,727,136...2,805,248
Ensembl chrNW_004624828:2,727,112...2,807,319
JBrowse link
G Ephb4 EPH receptor B4 ISO MouseDO NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
JBrowse link
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
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:16199547 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493
JBrowse link
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
JBrowse link
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
JBrowse link
G Invs inversin ISO RGD PMID:24586938 RGD:155794377 NCBI chrNW_004624825:701,335...866,598
Ensembl chrNW_004624825:702,347...866,353
JBrowse link
G Lama5 laminin subunit alpha 5 ISO MouseDO NCBI chrNW_004624741:28,156,956...28,217,133
Ensembl chrNW_004624741:28,157,172...28,217,113
JBrowse link
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 More... NCBI chrNW_004624786:1,303,283...1,314,188
Ensembl chrNW_004624786:1,303,308...1,314,188
JBrowse link
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
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal cyst ClinVar NCBI chrNW_004624831:375,851...453,968
Ensembl chrNW_004624831:375,866...453,930
JBrowse link
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 More... NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:25741868 PMID:27225849 PMID:28492532 NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324
JBrowse link
G Robo1 roundabout guidance receptor 1 ISO MouseDO NCBI chrNW_004624874:4,234,640...5,359,333
Ensembl chrNW_004624874:4,949,538...5,357,690
JBrowse link
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
JBrowse link
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
JBrowse link
G Slit2 slit guidance ligand 2 ISO MouseDO NCBI chrNW_004624755:11,470,810...11,819,800
Ensembl chrNW_004624755:11,472,377...11,819,266
JBrowse link
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 More... NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO MouseDO NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:25741868 NCBI chrNW_004624731:5,350,912...5,359,286 JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISO MouseDO NCBI chrNW_004624791:4,732,581...5,057,912 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Dmp1 dentin matrix acidic phosphoprotein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624872:4,169,052...4,184,189
Ensembl chrNW_004624872:4,177,624...4,183,234
JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chrNW_004624730:70,173,024...70,185,492
Ensembl chrNW_004624730:70,170,003...70,186,031
JBrowse link
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
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624872:4,096,001...4,102,392 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chrNW_004624926:1,147,470...1,160,901
Ensembl chrNW_004624926:1,146,886...1,160,876
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 More... NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Nphp3 nephrocystin 3 ISO MouseDO NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
JBrowse link
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
JBrowse link
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
JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis class Y ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004624757:16,159,263...16,159,777 JBrowse link
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
JBrowse link
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 More... RGD:7175280 NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
JBrowse link
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 More... RGD:7175273 NCBI chrNW_004624872:4,539,965...4,592,004
Ensembl chrNW_004624872:4,539,847...4,594,793
JBrowse link
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 More... NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chrNW_004624956:84,673...207,176
Ensembl chrNW_004624956:83,842...149,481
JBrowse link
G Ppm1k protein phosphatase, Mg2+/Mn2+ dependent 1K ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624757:15,817,351...15,850,652
Ensembl chrNW_004624757:15,817,375...15,850,800
JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004624757:16,159,773...16,161,568
Ensembl chrNW_004624757:16,159,818...16,162,062
JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004624913:101,788...107,267
Ensembl chrNW_004624913:101,900...107,691
JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004624757:17,393,046...17,528,783
Ensembl chrNW_004624757:17,392,998...17,528,320
JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004624872:3,981,166...4,015,843
Ensembl chrNW_004624872:3,981,072...3,997,533
JBrowse link
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 NCBI chrNW_004624872:4,505,796...4,513,247
Ensembl chrNW_004624872:4,505,522...4,513,742
JBrowse link
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
JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004624757:16,764,224...16,767,526 JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004624913:79,423...100,301
Ensembl chrNW_004624913:79,423...100,279
JBrowse link
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 NCBI chrNW_004624913:166,931...203,008
Ensembl chrNW_004624913:166,931...202,953
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 ISO ClinVar Annotator: match by term: Uromodulin-associated kidney disease ClinVar PMID:25741868 NCBI chrNW_004624730:70,914,763...71,061,313
Ensembl chrNW_004624730:70,914,804...71,059,642
JBrowse link
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 More... NCBI chrNW_004624782:3,639,955...3,654,026
Ensembl chrNW_004624782:3,640,214...3,652,324
JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Arl3 ARF like GTPase 3 ISO OMIM:263200 MouseDO NCBI chrNW_004624831:2,041,241...2,077,801
Ensembl chrNW_004624831:2,037,023...2,078,220
JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISO OMIM:263200 MouseDO NCBI chrNW_004624791:4,732,581...5,057,912 JBrowse link
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
JBrowse link
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
JBrowse link
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
JBrowse link
G Cftr CF transmembrane conductance regulator 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 JBrowse link
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 More... NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072
JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1 like ISO CTD Direct Evidence: marker/mechanism
OMIM:263200
CTD
MouseDO
PMID:28530676 NCBI chrNW_004624730:14,568,625...14,619,673
Ensembl chrNW_004624730:14,568,382...14,619,272
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271
JBrowse link
G Eln elastin ISO RGD PMID:21478483 RGD:7207865 NCBI chrNW_004624740:13,856,932...13,886,266 JBrowse link
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
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism
OMIM:263200
CTD
MouseDO
PMID:8191288 PMID:8608416 NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
JBrowse link
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
JBrowse link
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
JBrowse link
G Nek1 NIMA related kinase 1 ISO OMIM:263200 MouseDO NCBI chrNW_004624769:945,788...1,146,921
Ensembl chrNW_004624769:945,644...1,147,246
JBrowse link
G Nek8 NIMA related kinase 8 ISO OMIM:263200 MouseDO NCBI chrNW_004624786:1,303,283...1,314,188
Ensembl chrNW_004624786:1,303,308...1,314,188
JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
JBrowse link
G Panx1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chrNW_004624735:38,766,973...38,823,284
Ensembl chrNW_004624735:38,766,981...38,819,092
JBrowse link
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
JBrowse link
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 NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:25741868 NCBI chrNW_004624872:4,539,965...4,592,004
Ensembl chrNW_004624872:4,539,847...4,594,793
JBrowse link
G 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 More... RGD:11062506 RGD:70439 NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324
JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO OMIM:263200 MouseDO NCBI chrNW_004624777:9,735,573...9,911,795
Ensembl chrNW_004624777:9,735,612...9,911,442
JBrowse link
G Slc4a2 solute carrier family 4 member 2 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 JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132
JBrowse link
G Tmem67 transmembrane protein 67 ISO 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
JBrowse link
G Tsc1 TSC complex subunit 1 ISO OMIM:263200 MouseDO NCBI chrNW_004624760:3,479,028...3,536,612
Ensembl chrNW_004624760:3,498,692...3,532,011
JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 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
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
JBrowse link
G Tbx18 T-box transcription factor 18 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 NCBI chrNW_004624799:9,694,167...9,721,468
Ensembl chrNW_004624799:9,694,374...9,719,385
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chrNW_004624978:120,723...125,006
Ensembl chrNW_004624978:121,803...124,912
JBrowse link
diffuse cystic renal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004624730:25,964,848...26,006,468
Ensembl chrNW_004624730:25,964,811...26,006,463
JBrowse link
G Bicc1 BicC family RNA binding protein 1 susceptibility ISO ClinVar Annotator: match by term: BICC1-related condition | ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to OMIM
ClinVar
PMID:21922595 PMID:25741868 PMID:28492532 NCBI chrNW_004624791:4,732,581...5,057,912 JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9 alpha-1,2-mannosyltransferase 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 More... NCBI chrNW_004624784:6,936,324...7,049,890
Ensembl chrNW_004624784:6,955,046...7,049,891
JBrowse link
Joubert syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:880,216...898,753
Ensembl chrNW_004624760:880,148...898,751
JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,746,642...1,755,154
Ensembl chrNW_004624760:1,747,081...1,755,113
JBrowse link
G Ahi1 Abelson helper integration site 1 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 More... NCBI chrNW_004624886:2,189,753...2,403,174
Ensembl chrNW_004624886:2,189,655...2,397,364
JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,002,860...1,008,527
Ensembl chrNW_004624760:1,001,590...1,007,530
JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:12,089,519...12,121,501
Ensembl chrNW_004624795:12,107,622...12,125,064
JBrowse link
G Aldh3a2 aldehyde dehydrogenase 3 family member A2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,911,711...5,941,706
Ensembl chrNW_004624849:5,912,273...5,938,007
JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,257,460...3,280,870
Ensembl chrNW_004624849:3,257,459...3,280,245
JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:760,815...772,116
Ensembl chrNW_004624760:760,749...772,855
JBrowse link
G Appbp2 amyloid beta precursor protein binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:3,157,148...3,217,955
Ensembl chrNW_004624871:3,156,388...3,216,748
JBrowse link
G Arl13b ARF like GTPase 13B 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 NCBI chrNW_004624789:6,710,858...6,783,097
Ensembl chrNW_004624789:6,710,681...6,783,667
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 PMID:39033378 NCBI chrNW_004624843:4,483,974...4,588,546
Ensembl chrNW_004624843:4,486,762...4,573,553
JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:464,914...475,070
Ensembl chrNW_004624760:468,069...475,070
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:26092869 PMID:28492532 NCBI chrNW_004624747:23,471,697...23,501,018
Ensembl chrNW_004624747:23,471,403...23,504,576
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,409,108...3,429,780
Ensembl chrNW_004624849:3,409,121...3,429,780
JBrowse link
G B9d1 B9 domain containing 1 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 More... NCBI chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More... NCBI chrNW_004624907:177,031...183,776
Ensembl chrNW_004624907:176,827...184,574
JBrowse link
G Bcas3 BCAS3 microtubule associated cell migration factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:2,444,262...3,036,148
Ensembl chrNW_004624871:2,444,952...3,034,311
JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:2,051,044...2,195,364
Ensembl chrNW_004624871:2,052,863...2,198,165
JBrowse link
G Bst1 bone marrow stromal cell antigen 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624755:16,123,705...16,161,814
Ensembl chrNW_004624755:16,134,640...16,150,816
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator 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 NCBI chrNW_004624817:2,880,775...3,060,399
Ensembl chrNW_004624817:2,880,976...3,042,004
JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:937,871...939,655
Ensembl chrNW_004624760:937,871...939,466
JBrowse link
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:3,462,577...3,469,978
Ensembl chrNW_004624871:3,461,052...3,469,838
JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:78,754...257,901
Ensembl chrNW_004624760:81,236...257,787
JBrowse link
G Camsap1 calmodulin regulated spectrin associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,220,036...1,267,345
Ensembl chrNW_004624760:1,179,756...1,267,285
JBrowse link
G Card9 caspase recruitment domain family member 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chrNW_004624760:1,533,247...1,542,529
Ensembl chrNW_004624760:1,533,390...1,540,162
JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chrNW_004624752:9,467,636...9,485,085
Ensembl chrNW_004624752:9,469,766...9,485,175
JBrowse link
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 More... NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
JBrowse link
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 More... NCBI chrNW_004624760:1,029,318...1,038,375
Ensembl chrNW_004624760:1,029,257...1,037,821
JBrowse link
G Cd38 CD38 molecule ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624755:16,035,412...16,093,610
Ensembl chrNW_004624755:16,034,771...16,093,866
JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chrNW_004624818:6,712,616...6,737,377
Ensembl chrNW_004624818:6,716,695...6,737,883
JBrowse link
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 More... NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
JBrowse link
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 NCBI chrNW_004624783:5,859,800...5,906,496
Ensembl chrNW_004624783:5,859,739...5,905,196
JBrowse link
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 More... NCBI chrNW_004624760:710,923...715,126
Ensembl chrNW_004624760:711,349...715,024
JBrowse link
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 More... NCBI chrNW_004624760:911,124...912,922
Ensembl chrNW_004624760:911,145...912,951
JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,439,975...1,507,514
Ensembl chrNW_004624871:1,439,838...1,510,911
JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 PMID:28679688 NCBI chrNW_004624824:1,299,426...1,352,019
Ensembl chrNW_004624824:1,300,137...1,351,129
JBrowse link
G Coil coilin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:11,994,664...12,006,594
Ensembl chrNW_004624795:11,994,541...12,006,912
JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:4,125,188...4,150,933
Ensembl chrNW_004624849:4,124,586...4,150,933
JBrowse link
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 More... NCBI chrNW_004624759:17,763,200...17,879,603
Ensembl chrNW_004624759:17,763,585...17,855,954
JBrowse link
G Cpsf7 cleavage and polyadenylation specific factor 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624926:802,033...822,372 JBrowse link
G Cuedc1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:12,743,634...12,823,711
Ensembl chrNW_004624795:12,743,174...12,774,273
JBrowse link
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 More... NCBI chrNW_004624837:6,994,913...7,041,914
Ensembl chrNW_004624837:6,995,192...7,034,227
JBrowse link
G CUNH17orf67 chromosome unknown C17orf67 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:11,866,373...11,896,382
Ensembl chrNW_004624795:11,868,118...11,883,823
JBrowse link
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 More... NCBI chrNW_004624760:730,245...731,559
Ensembl chrNW_004624760:730,492...731,379
JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:11,908,738...11,934,403
Ensembl chrNW_004624795:11,908,793...11,933,125
JBrowse link
G Dhx40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,384,880...1,425,946
Ensembl chrNW_004624871:1,384,900...1,425,954
JBrowse link
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 More... NCBI chrNW_004624760:1,763,424...1,769,277
Ensembl chrNW_004624760:1,763,440...1,770,253
JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,531,439...1,533,176
Ensembl chrNW_004624760:1,531,439...1,533,170
JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:504,173...515,747 JBrowse link
G Dpp7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:825,992...829,670
Ensembl chrNW_004624760:826,218...830,636
JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,429,932...3,466,172
Ensembl chrNW_004624849:3,429,932...3,466,481
JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,352,124...3,370,288
Ensembl chrNW_004624849:3,351,963...3,370,229
JBrowse link
G Dynll2 dynein light chain LC8-type 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:12,932,425...12,940,503
Ensembl chrNW_004624795:12,932,460...12,940,498
JBrowse link
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 More... NCBI chrNW_004624760:986,820...990,019
Ensembl chrNW_004624760:986,822...990,019
JBrowse link
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 More... NCBI chrNW_004624882:513,105...575,126
Ensembl chrNW_004624882:513,227...575,126
JBrowse link
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 More... NCBI chrNW_004624760:1,737,001...1,746,496
Ensembl chrNW_004624760:1,738,942...1,746,226
JBrowse link
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 More... NCBI chrNW_004624760:271,397...463,462
Ensembl chrNW_004624760:272,493...379,780
JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624747:23,413,045...23,422,227
Ensembl chrNW_004624747:23,414,077...23,421,074
JBrowse link
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 More... NCBI chrNW_004624760:859,598...865,194
Ensembl chrNW_004624760:859,637...866,804
JBrowse link
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 More... NCBI chrNW_004624760:597,580...603,523
Ensembl chrNW_004624760:599,156...603,520
JBrowse link
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 More... NCBI chrNW_004624760:1,562,213...1,568,630
Ensembl chrNW_004624760:1,562,033...1,568,550
JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,520,279...5,632,152
Ensembl chrNW_004624849:5,577,679...5,633,008
JBrowse link
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
JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:22700954 NCBI chrNW_004624775:18,397,418...18,403,669
Ensembl chrNW_004624775:18,397,673...18,399,823
JBrowse link
G Fam149b1 family with sequence similarity 149 member B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:30905400 NCBI chrNW_004624754:6,861,455...6,912,991
Ensembl chrNW_004624754:6,861,636...6,911,340
JBrowse link
G Fam83g family with sequence similarity 83 member G ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,396,223...5,428,272
Ensembl chrNW_004624849:5,398,579...5,428,309
JBrowse link
G Fbxl5 F-box and leucine rich repeat protein 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624755:16,197,223...16,245,108
Ensembl chrNW_004624755:16,197,242...16,245,653
JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:939,896...943,636
Ensembl chrNW_004624760:940,256...943,644
JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:4,157,683...4,179,724 JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,213,988...3,227,734
Ensembl chrNW_004624849:3,214,042...3,227,476
JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:17558409 PMID:25741868 PMID:28492532 NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480
JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:876,048...877,984
Ensembl chrNW_004624760:876,059...877,574
JBrowse link
G Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,102,825...1,150,990
Ensembl chrNW_004624871:1,102,537...1,151,111
JBrowse link
G Gid4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,385,312...3,408,842
Ensembl chrNW_004624849:3,386,101...3,408,924
JBrowse link
G Gpsm1 G protein signaling modulator 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,507,255...1,529,170
Ensembl chrNW_004624760:1,507,242...1,529,163
JBrowse link
G Grap GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,441,806...5,468,300
Ensembl chrNW_004624849:5,441,749...5,468,276
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:777,208...800,525
Ensembl chrNW_004624760:776,873...801,354
JBrowse link
G Gtf2h3 general transcription factor IIH subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624747:23,422,289...23,437,193
Ensembl chrNW_004624747:23,422,319...23,435,926
JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:4,789,695...4,825,516
Ensembl chrNW_004624871:4,790,118...4,825,485
JBrowse link
G Hsf5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:262,288...302,311
Ensembl chrNW_004624871:263,794...301,574
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:24140113 PMID:25741868 PMID:26092869 NCBI chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E 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 More... NCBI chrNW_004624760:1,586,003...1,594,869
Ensembl chrNW_004624760:1,586,848...1,594,835
JBrowse link
G Irx3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chrNW_004624757:2,543,968...2,547,452
Ensembl chrNW_004624757:2,543,992...2,547,464
JBrowse link
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chrNW_004624757:1,962,574...1,966,330
Ensembl chrNW_004624757:1,947,032...1,966,352
JBrowse link
G Irx6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chrNW_004624757:1,617,674...1,623,928
Ensembl chrNW_004624757:1,619,023...1,622,800
JBrowse link
G Katnip katanin interacting protein 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 NCBI chrNW_004624782:12,141,512...12,320,673
Ensembl chrNW_004624782:12,141,591...12,320,909
JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,167,489...1,209,155
Ensembl chrNW_004624760:1,167,641...1,209,802
JBrowse link
G Kiaa0586 KIAA0586 ortholog 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 More... NCBI chrNW_004624884:3,477,240...3,624,420
Ensembl chrNW_004624884:3,478,065...3,625,711
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:21633164 PMID:25741868 PMID:28492532 NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707
JBrowse link
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chrNW_004624837:7,456,116...7,541,764
Ensembl chrNW_004624837:7,456,120...7,541,730
JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,070,637...1,074,260 JBrowse link
G Lcn15 lipocalin 15 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,047,585...1,050,735 JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,066,532...1,070,083 JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,052,765...1,055,559 JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,143,457...1,145,561 JBrowse link
G Lcnl1 lipocalin like 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:917,617...920,100 JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,428,496...1,435,414
Ensembl chrNW_004624760:1,429,384...1,435,414
JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,227,518...3,245,137
Ensembl chrNW_004624849:3,227,758...3,245,118
JBrowse link
G LOC101708454 cytochrome b ascorbate-dependent protein 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chrNW_004624926:835,341...861,866
Ensembl chrNW_004624926:853,055...861,123
JBrowse link
G LOC101713237 olfactory receptor 4D2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:30,786...31,721
Ensembl chrNW_004624871:30,786...31,721
JBrowse link
G Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:28492532 NCBI chrNW_004624871:99,159...119,745
Ensembl chrNW_004624871:105,245...119,283
JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:774,137...777,095 JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chrNW_004624730:47,825,142...47,863,868
Ensembl chrNW_004624730:47,825,290...47,864,440
JBrowse link
G Man1b1 mannosidase alpha class 1B member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:813,657...826,020
Ensembl chrNW_004624760:813,045...825,153
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,655,631...5,661,779
Ensembl chrNW_004624849:5,656,515...5,664,721
JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,920,046...3,934,748
Ensembl chrNW_004624849:3,920,268...3,934,777
JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,661,916...5,665,290
Ensembl chrNW_004624849:5,661,920...5,664,970
JBrowse link
G Micall2 MICAL like 2 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar NCBI chrNW_004624740:26,928,330...26,947,671
Ensembl chrNW_004624740:26,928,449...26,946,957
JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,207,698...3,213,121
Ensembl chrNW_004624849:3,207,606...3,212,671
JBrowse link
G Mks1 MKS transition zone complex subunit 1 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 More... NCBI chrNW_004624871:50,688...63,772
Ensembl chrNW_004624871:51,122...63,742
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:121,026...131,433
Ensembl chrNW_004624871:121,026...131,323
JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:4,231,802...4,368,355
Ensembl chrNW_004624849:4,237,118...4,368,355
JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:517,200...518,805
Ensembl chrNW_004624760:517,200...518,884
JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:3,112,670...3,115,621 JBrowse link
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:12,727,524...12,733,542
Ensembl chrNW_004624795:12,727,261...12,736,042
JBrowse link
G Msi2 musashi RNA binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:12,230,756...12,603,360
Ensembl chrNW_004624795:12,230,802...12,596,419
JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:302,589...328,773
Ensembl chrNW_004624871:302,588...328,623
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759
JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,319,092...1,386,692
Ensembl chrNW_004624760:1,318,993...1,349,810
JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:738,110...746,417
Ensembl chrNW_004624760:737,583...746,357
JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:692,735...703,571
Ensembl chrNW_004624760:692,735...705,328
JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:602,403...610,775
Ensembl chrNW_004624760:603,528...610,942
JBrowse link
G Npdc1 neural proliferation, differentiation and control 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:866,358...871,572
Ensembl chrNW_004624760:866,570...871,305
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chrNW_004624749:1,725,515...1,779,787
Ensembl chrNW_004624749:1,725,598...1,779,344
JBrowse link
G Nrarp NOTCH regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:670,796...672,679
Ensembl chrNW_004624760:670,837...671,181
JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:575,805...583,410
Ensembl chrNW_004624760:574,920...583,410
JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:4,031,421...4,098,326
Ensembl chrNW_004624849:4,052,050...4,098,149
JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 More... NCBI chrNW_004624882:376,447...417,066
Ensembl chrNW_004624882:376,556...416,509
JBrowse link
G Paxx PAXX non-homologous end joining factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:912,953...914,793
Ensembl chrNW_004624760:913,574...914,708
JBrowse link
G Pdp1 pyruvate dehydrogenase phosphatase catalytic subunit 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:20232449 PMID:23559409 PMID:28492532 NCBI chrNW_004624763:1,356,193...1,364,643
Ensembl chrNW_004624763:1,356,588...1,365,726
JBrowse link
G Pdpr pyruvate dehydrogenase phosphatase regulatory subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25558065 PMID:27894351 NCBI chrNW_004624746:12,426,081...12,492,966
Ensembl chrNW_004624746:12,423,917...12,492,966
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,818,115...3,907,250
Ensembl chrNW_004624849:3,817,915...3,908,888
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:26167768 PMID:28492532 NCBI chrNW_004624751:27,543,768...27,760,536
Ensembl chrNW_004624751:27,543,702...27,759,271
JBrowse link
G Pld6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:4,202,398...4,245,217
Ensembl chrNW_004624849:4,224,986...4,227,755
JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chrNW_004624760:1,568,655...1,576,273
Ensembl chrNW_004624760:1,568,710...1,575,867
JBrowse link
G Pnpla7 patatin like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:521,145...575,431 JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent 1D ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:3,044,718...3,089,042
Ensembl chrNW_004624871:3,044,102...3,088,981
JBrowse link
G Ppm1e protein phosphatase, Mg2+/Mn2+ dependent 1E ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:753,327...902,384
Ensembl chrNW_004624871:753,292...898,362
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624755:15,765,162...15,886,023
Ensembl chrNW_004624755:15,771,286...15,886,348
JBrowse link
G Prpsap2 phosphoribosyl pyrophosphate synthetase associated protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,298,389...5,334,161
Ensembl chrNW_004624849:5,298,410...5,334,161
JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,049,663...1,086,751
Ensembl chrNW_004624871:1,050,049...1,085,982
JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:920,292...923,174
Ensembl chrNW_004624760:920,877...923,283
JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,511,486...1,519,673
Ensembl chrNW_004624871:1,511,486...1,519,567
JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,436,169...1,459,522
Ensembl chrNW_004624760:1,435,969...1,459,578
JBrowse link
G Rab9a RAB9A, member RAS oncogene family ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chrNW_004624882:435,877...489,691
Ensembl chrNW_004624882:435,879...463,069
JBrowse link
G Rabl6 RAB, member RAS oncogene family like 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,008,723...1,029,070
Ensembl chrNW_004624760:1,009,270...1,028,929
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:708,048...746,753 JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,624,436...3,749,276
Ensembl chrNW_004624849:3,625,882...3,640,671
JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,916,898...3,918,904
Ensembl chrNW_004624849:3,916,907...3,920,212
JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chrNW_004624734:1,866,886...1,972,685
Ensembl chrNW_004624734:1,866,830...1,972,986
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 More... NCBI chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160
JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,698,937...5,706,316
Ensembl chrNW_004624849:5,699,839...5,706,826
JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:733,711...735,605
Ensembl chrNW_004624760:734,629...735,435
JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:726,458...728,605 JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:191,534...259,134
Ensembl chrNW_004624871:191,546...259,120
JBrowse link
G Rnft1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,707,570...1,721,026
Ensembl chrNW_004624871:1,707,509...1,721,078
JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: 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 More... NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,667,292...1,705,550
Ensembl chrNW_004624871:1,667,291...1,702,783
JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:843,746...848,104
Ensembl chrNW_004624760:843,760...847,327
JBrowse link
G Scpep1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:12,016,363...12,041,615
Ensembl chrNW_004624795:12,016,302...12,042,353
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624926:792,172...802,838
Ensembl chrNW_004624926:792,173...801,954
JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,595,021...1,628,985
Ensembl chrNW_004624760:1,594,899...1,629,409
JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:330,225...402,327 JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,108,875...3,146,669
Ensembl chrNW_004624849:3,114,876...3,146,248
JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:720,539...725,940
Ensembl chrNW_004624760:720,472...725,551
JBrowse link
G Slc47a1 solute carrier family 47 member 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,775,925...5,831,941
Ensembl chrNW_004624849:5,776,180...5,830,871
JBrowse link
G Slc5a10 solute carrier family 5 member 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:5,364,527...5,441,805
Ensembl chrNW_004624849:5,368,343...5,441,797
JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,147,251...3,159,358
Ensembl chrNW_004624849:3,149,121...3,159,273
JBrowse link
G Smg8 SMG8 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,094,686...1,100,633
Ensembl chrNW_004624871:1,094,710...1,100,633
JBrowse link
G Snapc4 small nuclear RNA activating complex polypeptide 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:15786477 PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chrNW_004624760:1,542,979...1,561,164
Ensembl chrNW_004624760:1,543,498...1,561,178
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,154,848...1,159,341 JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,602,103...3,623,922
Ensembl chrNW_004624849:3,602,261...3,623,465
JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:759,471...760,797
Ensembl chrNW_004624760:759,469...760,797
JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:703,733...707,880
Ensembl chrNW_004624760:705,486...706,898
JBrowse link
G Supt4h1 SPT4 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:183,495...189,838
Ensembl chrNW_004624871:184,298...189,798
JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624755:15,639,200...15,698,828
Ensembl chrNW_004624755:15,639,136...15,699,006
JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:2,428,757...2,437,447
Ensembl chrNW_004624871:2,429,407...2,437,447
JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:2,365,836...2,390,269
Ensembl chrNW_004624871:2,366,823...2,390,269
JBrowse link
G Tceanc transcription elongation factor A N-terminal and central domain containing ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chrNW_004624882:482,046...491,794
Ensembl chrNW_004624882:482,345...483,406
JBrowse link
G Tctn1 tectonic family member 1 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 More... NCBI chrNW_004624747:21,259,515...21,300,180
Ensembl chrNW_004624747:21,265,197...21,300,149
JBrowse link
G Tctn2 tectonic family member 2 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 More... NCBI chrNW_004624747:23,439,647...23,470,470 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
JBrowse link
G Tlr7 toll like receptor 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chrNW_004624882:1,375,216...1,379,705 JBrowse link
G Tlr8 toll like receptor 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chrNW_004624882:1,240,519...1,247,311
Ensembl chrNW_004624882:1,240,626...1,312,468
JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chrNW_004624926:847,402...852,721
Ensembl chrNW_004624926:847,745...850,718
JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,038,579...1,040,250
Ensembl chrNW_004624760:1,038,579...1,040,239
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chrNW_004624762:10,970,048...10,975,736
Ensembl chrNW_004624762:10,969,765...10,976,870
JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:746,451...747,960
Ensembl chrNW_004624760:746,671...747,081
JBrowse link
G Tmem216 transmembrane protein 216 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 More... NCBI chrNW_004624926:823,187...829,308
Ensembl chrNW_004624926:825,458...828,079
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:33791682 NCBI chrNW_004624927:1,137,223...1,163,880
Ensembl chrNW_004624927:1,136,636...1,163,757
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624746:11,411,050...11,427,945
Ensembl chrNW_004624746:11,411,107...11,427,943
JBrowse link
G Tmem237 transmembrane protein 237 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 More... NCBI chrNW_004624899:209,810...239,404
Ensembl chrNW_004624899:206,878...238,737
JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,383,478...1,386,722 JBrowse link
G Tmem67 transmembrane protein 67 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 More... NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
JBrowse link
G Tmsb4x thymosin beta 4 X-linked ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chrNW_004624882:1,198,099...1,200,237
Ensembl chrNW_004624882:1,198,099...1,200,201
JBrowse link
G Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 NCBI chrNW_004624837:7,139,006...7,205,077
Ensembl chrNW_004624837:7,138,419...7,190,194
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593
JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:32453716 PMID:32747439 NCBI chrNW_004624731:23,465,516...23,542,960
Ensembl chrNW_004624731:23,461,859...23,542,950
JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,466,572...3,594,397
Ensembl chrNW_004624849:3,466,520...3,594,738
JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624849:3,159,432...3,196,235
Ensembl chrNW_004624849:3,159,810...3,194,860
JBrowse link
G Tor4a torsin family 4 member A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:686,754...692,557
Ensembl chrNW_004624760:686,768...690,397
JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:750,833...758,329
Ensembl chrNW_004624760:750,871...758,433
JBrowse link
G Traf2 TNF receptor associated factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:952,574...973,511
Ensembl chrNW_004624760:952,574...965,661
JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:25674159 More... NCBI chrNW_004624882:417,101...431,170 JBrowse link
G Trim25 tripartite motif containing 25 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:11,967,908...11,986,707
Ensembl chrNW_004624795:11,971,610...11,986,608
JBrowse link
G Trim37 tripartite motif containing 37 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:899,931...1,049,583
Ensembl chrNW_004624871:912,140...1,021,354
JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:139,513...165,564
Ensembl chrNW_004624871:140,612...165,411
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B 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 NCBI chrNW_004624787:3,685,700...3,745,018
Ensembl chrNW_004624787:3,686,088...3,744,895
JBrowse link
G Tubb4b tubulin beta 4B class IVb ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:715,013...717,462
Ensembl chrNW_004624760:712,987...717,951
JBrowse link
G Tubd1 tubulin delta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,619,385...1,667,128
Ensembl chrNW_004624871:1,643,288...1,666,030
JBrowse link
G Tvp23b trans-golgi network vesicle protein 23 homolog B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624877:3,536,540...3,631,960
Ensembl chrNW_004624877:3,516,159...3,631,561
JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:834,605...839,983
Ensembl chrNW_004624760:834,606...839,970
JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:1,278,395...1,294,403
Ensembl chrNW_004624760:1,278,286...1,294,482
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640
JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:3,275,272...3,444,837
Ensembl chrNW_004624871:3,275,240...3,443,307
JBrowse link
G Vezf1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624795:12,837,197...12,871,169
Ensembl chrNW_004624795:12,836,089...12,853,589
JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,519,662...1,626,040
Ensembl chrNW_004624871:1,519,764...1,625,034
JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:25741868 PMID:27158779 PMID:28492532 NCBI chrNW_004624762:9,901,021...10,303,217
Ensembl chrNW_004624762:9,970,904...10,303,046
JBrowse link
G Ypel2 yippee like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chrNW_004624871:1,197,276...1,261,404
Ensembl chrNW_004624871:1,197,319...1,258,373
JBrowse link
G Zmynd19 zinc finger MYND-type containing 19 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chrNW_004624760:495,430...501,645
Ensembl chrNW_004624760:494,771...503,301
JBrowse link
Joubert Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 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 More... NCBI chrNW_004624926:823,187...829,308
Ensembl chrNW_004624926:825,458...828,079
JBrowse link
Joubert syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 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
JBrowse link
G Mall mal, T cell differentiation protein like ISO ClinVar Annotator: match by term: Joubert syndrome with renal defect ClinVar PMID:25741868 NCBI chrNW_004624749:1,795,238...1,820,900
Ensembl chrNW_004624749:1,795,222...1,820,995
JBrowse link
G Nphp1 nephrocystin 1 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 More... NCBI chrNW_004624749:1,725,515...1,779,787
Ensembl chrNW_004624749:1,725,598...1,779,344
JBrowse link
G Nphp4 nephrocystin 4 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
JBrowse link
Joubert syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar PMID:19936001 PMID:25741868 PMID:28492532 NCBI chrNW_004624872:4,539,965...4,592,004
Ensembl chrNW_004624872:4,539,847...4,594,793
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chrNW_004624825:7,289,385...7,366,388
Ensembl chrNW_004624825:7,296,662...7,366,196
JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Joubert syndrome 7 OMIM
ClinVar
PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 More... NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
JBrowse link
maturity-onset diabetes of the young type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:25741868 NCBI chrNW_004624798:3,332,549...3,414,435 JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome OMIM
ClinVar
PMID:2624270 PMID:2976441 PMID:7151342 PMID:9398836 PMID:9703339 More... NCBI chrNW_004624871:4,662,104...4,713,125
Ensembl chrNW_004624871:4,661,669...4,712,960
JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 More... NCBI chrNW_004624818:3,900,917...3,915,457
Ensembl chrNW_004624818:3,900,917...3,911,042
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:27657687 NCBI chrNW_004624831:375,851...453,968
Ensembl chrNW_004624831:375,866...453,930
JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624800:4,969,010...5,207,941
Ensembl chrNW_004624800:4,968,866...5,207,501
JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B9d1 B9 domain containing 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:32622957 More... NCBI chrNW_004624849:5,635,996...5,644,139
Ensembl chrNW_004624849:5,633,076...5,644,221
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chrNW_004624907:177,031...183,776
Ensembl chrNW_004624907:176,827...184,574
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A 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 More... NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
JBrowse link
G Cep290 centrosomal protein 290 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 More... NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:24360803 PMID:25558065 PMID:25741868 NCBI chrNW_004624744:24,145,480...24,286,931
Ensembl chrNW_004624744:24,146,096...24,287,002
JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480
JBrowse link
G Hoxb6 homeobox B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chrNW_004624795:5,093,911...5,102,401
Ensembl chrNW_004624795:5,093,858...5,102,868
JBrowse link
G Mks1 MKS transition zone complex subunit 1 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 More... NCBI chrNW_004624871:50,688...63,772
Ensembl chrNW_004624871:51,122...63,742
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 PMID:34196655 NCBI chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160
JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
JBrowse link
G Tctn1 tectonic family member 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 NCBI chrNW_004624747:21,259,515...21,300,180
Ensembl chrNW_004624747:21,265,197...21,300,149
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359
JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 More... NCBI chrNW_004624746:11,411,050...11,427,945
Ensembl chrNW_004624746:11,411,107...11,427,943
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 More... NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
JBrowse link
Meckel Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 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 More... NCBI chrNW_004624807:10,093,518...10,144,484
Ensembl chrNW_004624807:10,092,934...10,143,399
JBrowse link
Meckel syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome 13 OMIM
ClinVar
PMID:25741868 PMID:26123494 PMID:26595381 NCBI chrNW_004624786:10,742,842...10,745,381
Ensembl chrNW_004624786:10,741,929...10,745,359
JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... NCBI chrNW_004624926:823,187...829,308
Ensembl chrNW_004624926:825,458...828,079
JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 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 More... NCBI chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
JBrowse link
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 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 More... NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 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 More... NCBI chrNW_004624837:7,041,942...7,054,488
Ensembl chrNW_004624837:7,041,984...7,054,160
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chrNW_004624927:1,137,223...1,163,880
Ensembl chrNW_004624927:1,136,636...1,163,757
JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5 OMIM
ClinVar
PMID:3442652 PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chrNW_004624757:3,080,162...3,172,750
Ensembl chrNW_004624757:3,079,712...3,172,115
JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A 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 More... NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chrNW_004624747:23,439,647...23,470,470 JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 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 More... NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
JBrowse link
Medullary Sponge Kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO RGD PMID:30600684 RGD:14700919 NCBI chrNW_004624855:4,019,088...4,539,289
Ensembl chrNW_004624855:4,019,056...4,536,324
JBrowse link
Multicystic Dysplastic Kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G Pdgfa platelet derived growth factor subunit A 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
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar PMID:25741868 PMID:26467025 NCBI chrNW_004624913:118,520...166,939
Ensembl chrNW_004624913:118,733...165,859
JBrowse link
G Scaf4 SR-related CTD associated factor 4 ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar NCBI chrNW_004624745:20,040,416...20,097,764
Ensembl chrNW_004624745:20,040,770...20,097,835
JBrowse link
nephronophthisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004624730:8,704,458...8,792,678
Ensembl chrNW_004624730:8,704,350...8,792,741
JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004624730:8,732,124...8,738,968
Ensembl chrNW_004624730:8,733,586...8,738,961
JBrowse link
G Adamts9 ADAM metallopeptidase with thrombospondin type 1 motif 9 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 PMID:30609407 NCBI chrNW_004624888:1,333,534...1,474,776
Ensembl chrNW_004624888:1,333,714...1,474,897
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 More... NCBI chrNW_004624886:2,189,753...2,403,174
Ensembl chrNW_004624886:2,189,655...2,397,364
JBrowse link
G Ajap1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004624818:6,214,846...6,318,347
Ensembl chrNW_004624818:6,214,907...6,318,333
JBrowse link
G Alg2 ALG2 alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:1,771,408...1,775,950
Ensembl chrNW_004624825:1,771,530...1,777,711
JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:2,157,158...2,214,115
Ensembl chrNW_004624825:2,157,158...2,212,971
JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:2,814,758...2,844,008 JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chrNW_004624730:9,685,568...9,772,984
Ensembl chrNW_004624730:9,685,568...9,772,984
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chrNW_004624755:16,252,488...16,361,794
Ensembl chrNW_004624755:16,252,582...16,355,053
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624784:12,754,685...12,837,440
Ensembl chrNW_004624784:12,773,870...12,836,107
JBrowse link
G Cep290 centrosomal protein 290 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 More... NCBI chrNW_004624837:7,054,659...7,138,840
Ensembl chrNW_004624837:7,054,813...7,138,097
JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:23530209 PMID:24882706 PMID:28492532 NCBI chrNW_004624750:12,533,644...12,638,701
Ensembl chrNW_004624750:12,533,762...12,638,059
JBrowse link
G Cntrl centriolin ISO MouseDO NCBI chrNW_004624760:14,098,553...14,178,745 JBrowse link
G Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:1,939,685...2,041,575 JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:2,682,632...2,749,202
Ensembl chrNW_004624825:2,712,489...2,749,806
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:22425360 PMID:24178751 PMID:25741868 PMID:26092869 PMID:28087721 More... NCBI chrNW_004624759:17,763,200...17,879,603
Ensembl chrNW_004624759:17,763,585...17,855,954
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,308,502...3,506,450
Ensembl chrNW_004624787:3,308,484...3,500,852
JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318
JBrowse link
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:865,901...962,661
Ensembl chrNW_004624825:866,077...959,146
JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624755:22,432,174...22,478,595
Ensembl chrNW_004624755:22,437,167...22,478,591
JBrowse link
G Fam186b family with sequence similarity 186 member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chrNW_004624816:2,641,679...2,657,740 JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:2,979,447...2,981,412
Ensembl chrNW_004624825:2,980,176...2,981,303
JBrowse link
G Fto FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624757:2,675,810...3,081,751
Ensembl chrNW_004624757:2,675,671...3,080,480
JBrowse link
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:2,233,759...2,608,159
Ensembl chrNW_004624825:2,233,759...2,610,255
JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:2,075,471...2,144,869
Ensembl chrNW_004624825:2,116,681...2,156,768
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004624787:3,557,946...3,613,235
Ensembl chrNW_004624787:3,559,903...3,591,615
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 NCBI chrNW_004624824:2,106,261...2,127,740
Ensembl chrNW_004624824:2,098,384...2,127,733
JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15723066 PMID:20881296 PMID:28492532 NCBI chrNW_004624731:26,438,529...26,526,205
Ensembl chrNW_004624731:26,455,126...26,526,316
JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:2,879,160...2,899,636
Ensembl chrNW_004624825:2,888,131...2,900,752
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:9536098 PMID:17576681 PMID:22503633 PMID:25741868 PMID:28288023 More... NCBI chrNW_004624913:616,283...712,040
Ensembl chrNW_004624913:621,203...711,493
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 NCBI chrNW_004624738:9,510,452...9,546,985
Ensembl chrNW_004624738:9,510,512...9,545,933
JBrowse link
G Incenp inner centromere protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chrNW_004624926:405,354...422,492
Ensembl chrNW_004624926:407,362...419,566
JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:27158779 PMID:28492532 NCBI chrNW_004624777:8,585,777...8,674,887
Ensembl chrNW_004624777:8,596,178...8,675,295
JBrowse link
G Invs inversin 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 More... NCBI chrNW_004624825:701,335...866,598
Ensembl chrNW_004624825:702,347...866,353
JBrowse link
G Iqcb1 IQ motif containing B1 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 More... NCBI chrNW_004624912:56,209...112,766
Ensembl chrNW_004624912:56,946...113,438
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chrNW_004624754:8,204,266...8,391,328
Ensembl chrNW_004624754:8,204,943...8,392,724
JBrowse link
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chrNW_004624818:5,251,304...5,326,796
Ensembl chrNW_004624818:5,253,773...5,327,000
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707
JBrowse link
G Mall mal, T cell differentiation protein like ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:8852662 PMID:10620543 PMID:10839884 PMID:15138899 PMID:24746959 More... NCBI chrNW_004624749:1,795,238...1,820,900
Ensembl chrNW_004624749:1,795,222...1,820,995
JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chrNW_004624741:11,323,935...11,447,669
Ensembl chrNW_004624741:11,425,368...11,435,706
JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:2,771,301...2,795,813
Ensembl chrNW_004624825:2,771,057...2,795,815
JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:3,166,895...3,206,444
Ensembl chrNW_004624825:3,164,700...3,206,241
JBrowse link
G Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chrNW_004624759:17,899,152...18,078,213
Ensembl chrNW_004624759:17,899,152...17,999,295
JBrowse link
G Nphp1 nephrocystin 1 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 More... NCBI chrNW_004624749:1,725,515...1,779,787
Ensembl chrNW_004624749:1,725,598...1,779,344
JBrowse link
G Nphp3 nephrocystin 3 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 More... NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649
JBrowse link
G Nphp4 nephrocystin 4 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 More... 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 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 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 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 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 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 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 ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:25741868 PMID:28492532 PMID:34196655 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 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 More... 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 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 More... 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 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... 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 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... 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 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... 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 ISO MouseDO 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 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chrNW_004624825:1,762,735...1,771,271
Ensembl chrNW_004624825:1,762,734...1,771,233
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chrNW_004624802:4,164,969...4,472,491
Ensembl chrNW_004624802:4,165,054...4,472,293
JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Nephronophthisis