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cystic kidney disease - Ontology Report - Rat Genome Database

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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 chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Arl13b ARF like GTPase 13B ISO RGD PMID:27153923 RGD:11553938 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr20:17,448,745...17,685,887
Ensembl chr20:17,449,560...17,686,776 		JBrowse link
G Cep290 centrosomal protein 290 ISS MouseDO NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:25741868 NCBI chr11:91,656,334...91,672,800
Ensembl chr11:78,150,429...78,180,407 		JBrowse link
G Dnm2 dynamin 2 ISS MouseDO NCBI chr 8:28,254,344...28,336,297
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
G Ephb4 EPH receptor B4 ISS MouseDO NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18604206 NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:121,927,942...122,056,707 		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 chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 2:155,455,773...155,550,082
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9879822 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Invs inversin ISO RGD PMID:24586938 RGD:155794377 NCBI chr 5:67,406,511...67,559,355
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Lama5 laminin subunit alpha 5 ISS MouseDO NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:167,270,296...167,318,451 		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 chr10:63,558,940...63,570,954
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
G Nphp3 nephrocystin 3 ISO DNA:missense mutation: :p.I614S (mouse) RGD PMID:18371931 RGD:11352488 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal cyst ClinVar NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321 		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 chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		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 chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Robo1 roundabout guidance receptor 1 ISS MouseDO NCBI chr11:24,067,869...25,108,694
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835237 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,829,661...67,168,517
Ensembl chr14:62,617,067...62,955,948 		JBrowse link
G Tmem67 transmembrane protein 67 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cystic kidney disease		 CTD
MouseDO
ClinVar		 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISS MouseDO NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:25741868 NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377 		JBrowse link
autosomal dominant polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:89,006,056...89,132,915
Ensembl chr 4:87,745,319...87,802,409 		JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS MouseDO NCBI chr20:17,448,745...17,685,887
Ensembl chr20:17,449,560...17,686,776 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr 7:11,866,997...11,946,575
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:14,003,276...14,004,809
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:14,016,780...14,037,927
Ensembl chr10:13,513,465...13,533,377 		JBrowse link
G Cd14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cfb complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		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 chr 1:175,672,834...175,715,867
Ensembl chr 1:166,238,238...166,280,590 		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 chr14:5,833,111...5,867,154
Ensembl chr14:5,528,431...5,539,323 		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 chr11:91,656,334...91,672,800
Ensembl chr11:78,150,429...78,180,407 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,976,012...13,978,574
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr14:5,870,232...5,876,339
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,978,975...13,999,646
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Edn1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885 		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 chr 4:89,386,685...89,485,940
Ensembl chr 4:88,058,403...88,155,860 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:83,309,895...83,312,397
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Gprin3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:89,902,198...89,987,496
Ensembl chr 4:88,563,607...88,657,429 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698 		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 chr 4:89,282,374...89,372,656
Ensembl chr 4:87,952,274...88,042,488 		JBrowse link
G Herc6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:88,854,612...88,897,043
Ensembl chr 4:87,524,493...87,581,744 		JBrowse link
G Hsd17b11 hydroxysteroid (17-beta) dehydrogenase 11 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,997,893...6,047,816
Ensembl chr14:5,711,964...5,743,161 		JBrowse link
G Hsd17b13 hydroxysteroid (17-beta) dehydrogenase 13 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:6,056,708...6,071,463
Ensembl chr14:5,752,132...5,768,166 		JBrowse link
G Ibsp integrin-binding sialoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr14:5,744,497...5,757,242
Ensembl chr14:5,439,829...5,452,693 		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 chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr17:80,213,139...80,410,633
Ensembl chr17:75,304,008...75,501,510 		JBrowse link
G Klhl8 kelch-like family member 8 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:6,112,472...6,158,001
Ensembl chr14:5,807,907...5,853,294 		JBrowse link
G Lcn2 lipocalin 2 disease_progression ISO protein:increased expression:serum, urine RGD PMID:20921623 PMID:22258321 RGD:126781837, RGD:126790531 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lrp2 LDL receptor related protein 2 IEP RGD PMID:11841627 RGD:1641842 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility IAGP
ISO		 DNA:missense mutation:cds:multiple mutations (human)
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:25920554 RGD:11553546 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		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 chr 4:168,997,937...169,131,716
Ensembl chr 4:167,270,353...167,400,497 		JBrowse link
G Mepe matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:14,002,927...14,008,678
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO
ISS		 mRNA:increased expression:kidney (mouse)
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD
RGD		 PMID:25877301 PMID:18356167 RGD:7207457 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		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 chr 4:89,352,834...89,354,704
Ensembl chr 4:88,022,569...88,024,654 		JBrowse link
G Nphp3 nephrocystin 3 ISS MouseDO NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nudt9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,675,376...5,693,332
Ensembl chr14:5,675,382...5,693,142 		JBrowse link
G Onecut2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chr18:60,101,967...60,161,095
Ensembl chr18:57,832,111...57,879,629 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:13,999,782...14,002,408
Ensembl chr10:13,494,291...13,497,858 		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 chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
G Pitx2 paired-like homeodomain 2 IEP mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting severity ISO DNA:mutations:exons, intron:multiple
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R3277C (mouse)
DNA:mutations:multiple		 ClinVar
CTD
RGD		 PMID:7581371 PMID:8004675 PMID:8845849 PMID:9199561 PMID:9285784 More... RGD:1601399, RGD:7175280, RGD:7175279 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel onset ISO
ISS		 DNA:mutations:multiple
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:8650545 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 More... RGD:7175273, RGD:7175279 NCBI chr14:5,541,821...5,585,140
Ensembl chr14:5,237,135...5,280,825 		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 chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468 		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 chr 4:87,612,198...87,638,993
Ensembl chr 4:87,612,204...87,636,152 		JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:88,832,008...88,835,643
Ensembl chr 4:87,501,859...87,505,494 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:14,057,942...14,062,602
Ensembl chr10:13,553,395...13,558,030 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 IEP protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,323,777...71,367,908 		JBrowse link
G Serping1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 3:90,249,410...90,259,299
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 disease_progression IEP mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852 		JBrowse link
G Snca synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sparcl1 SPARC like 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr14:5,937,484...5,968,532
Ensembl chr14:5,632,569...5,663,865 		JBrowse link
G Spp1 secreted phosphoprotein 1 IEP
ISO		 ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar
RGD		 PMID:17582161 PMID:22863349 PMID:25741868 PMID:28492532 PMID:20926632 RGD:5131995 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
G Tigd2 tigger transposable element derived 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:88,414,366...88,417,458
Ensembl chr 4:88,414,518...88,417,785 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:14,038,117...14,056,832
Ensembl chr10:13,533,570...13,552,203 		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 chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		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 chr11:92,378,908...92,478,893
Ensembl chr11:78,874,414...78,974,377 		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: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease OMIM
ClinVar
RGD		 PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... RGD:737832 NCBI chr 1:183,247,676...183,261,665
Ensembl chr 1:173,816,339...173,830,302 		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 IMP
IEP		 mRNA:increased expression:kidney (rat) RGD PMID:20229187 PMID:20798958 RGD:2325220, RGD:12879406 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 6:137,534,810...137,555,131
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aqp1 aquaporin 1 IEP
ISO		 mRNA, protein:increased expression, altered location:bile duct, epithelial cell
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Arl3 ARF like GTPase 3 ISS OMIM:263200 MouseDO NCBI chr 1:255,342,078...255,388,087
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Bicc1 BicC family RNA binding protein 1 ISS OMIM:263200 MouseDO NCBI chr20:17,448,745...17,685,887
Ensembl chr20:17,449,560...17,686,776 		JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 PMID:17960140 RGD:7175542, RGD:7175542 NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cd14 CD14 molecule severity ISO RGD PMID:20555320 PMID:20555320 RGD:7204130, RGD:7204130 NCBI chr18:28,609,558...28,611,409
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cdc25a cell division cycle 25A treatment IEP
IMP
ISO		 protein:increased expression:cholangiocyte: RGD PMID:22155366 PMID:22155366 PMID:22155366 PMID:22155366 RGD:14700990, RGD:14700990, RGD:14700990, RGD:14700990 NCBI chr 8:118,742,824...118,761,190
Ensembl chr 8:109,864,478...109,882,701 		JBrowse link
G Cftr CF transmembrane conductance regulator IEP
ISO		 mRNA, protein:increased expression:bile duct epithelium
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,360,096...134,374,233
Ensembl chr 5:129,123,336...129,137,464 		JBrowse link
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,160,356...134,170,908
Ensembl chr 5:128,923,615...128,934,165 		JBrowse link
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:134,334,396...134,352,268
Ensembl chr 5:129,097,926...129,115,463 		JBrowse link
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 IEP mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 5:133,938,882...133,970,226
Ensembl chr 5:128,702,131...128,733,476 		JBrowse link
G Cys1 cystin 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease
OMIM:263200		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:34521872 PMID:11854326 RGD:7175541 NCBI chr 6:47,029,440...47,046,671
Ensembl chr 6:41,300,836...41,318,071 		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:25741868 PMID:28492532 PMID:29068549 More... NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Dzip1l DAZ interacting zinc finger protein 1-like ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:263200		 CTD
MouseDO		 PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eln elastin IEP RGD PMID:21478483 RGD:7207865 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:83,309,895...83,312,397
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Ift88 intraflagellar transport 88 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:263200		 CTD
MouseDO		 PMID:8191288 PMID:8608416 NCBI chr15:35,685,678...35,786,875
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IDA protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nek1 NIMA-related kinase 1 ISS OMIM:263200 MouseDO NCBI chr16:34,009,092...34,137,418
Ensembl chr16:28,998,231...29,117,723 		JBrowse link
G Nek8 NIMA-related kinase 8 ISS OMIM:263200 MouseDO NCBI chr10:63,558,940...63,570,954
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Panx1 Pannexin 1 IEP RGD PMID:31630543 RGD:14995937 NCBI chr 8:20,128,783...20,171,200
Ensembl chr 8:11,850,730...11,889,774 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha IEP protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISS
ISO		 OMIM:263200
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease		 MouseDO
ClinVar		 PMID:25741868 PMID:26467025 PMID:29100090 PMID:32775833 PMID:33639313 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		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 chr14:5,541,821...5,585,140
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity		 ISO
ISS
IAGP
IEP		 DNA:missense mutations, nonsense mutations: :multiple
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
OMIM:263200
DNA:missense mutations:cds:
DNA:deletion:exon:
CTD Direct Evidence: marker/mechanism
protein:decreased expression:kidney
DNA:splice site mutation:intron:IVS35-2A>T		 ClinVar
MouseDO
CTD
RGD		 PMID:1189128 PMID:3239877 PMID:9536098 PMID:11898128 PMID:11919560 More... RGD:70439, RGD:70439, RGD:11062506, RGD:14700917, RGD:1642441, RGD:70439 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease IAGP RGD PMID:11919560 RGD:70439
G Sclt1 sodium channel and clathrin linker 1 ISS OMIM:263200 MouseDO NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 IEP
ISO		 mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18988797 PMID:18988797 RGD:2307071 NCBI chr 4:11,628,860...11,646,961
Ensembl chr 4:10,736,425...10,752,965 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Tmem67 transmembrane protein 67 IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:30705305 PMID:11095650 PMID:15052665 RGD:14995942, RGD:1300514, RGD:15014788
G Tsc1 TSC complex subunit 1 ISS OMIM:263200 MouseDO NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674 		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 chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Tbx18 T-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 8:97,531,960...97,559,988
Ensembl chr 8:88,652,054...88,680,058 		JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664 		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 chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to ClinVar PMID:25741868 PMID:35005812 NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946 		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 chr20:17,448,745...17,685,887
Ensembl chr20:17,449,560...17,686,776 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15945070 PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 More... NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:51,119,365...51,182,261 		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 chr 3:28,642,660...28,662,689
Ensembl chr 3:8,244,639...8,264,537 		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 chr 3:29,814,924...29,826,569
Ensembl chr 3:9,416,843...9,428,371 		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 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:3196484 PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 More... NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:15,762,462...15,891,041 		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 chr 3:28,793,078...28,799,459
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G Akap1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:74,118,232...74,151,366
Ensembl chr10:73,621,883...73,653,896 		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 chr10:46,427,789...46,448,449
Ensembl chr10:45,908,524...45,949,281 		JBrowse link
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,844,411...45,865,853
Ensembl chr10:45,343,395...45,366,331 		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 chr 3:28,484,590...28,496,338
Ensembl chr 3:8,086,462...8,098,178 		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 chr10:70,555,212...70,597,267
Ensembl chr10:70,057,774...70,099,835 		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 chr11:150,100...217,103
Ensembl chr11:150,955...217,197 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 PMID:39033378 NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:86,802,868...86,928,860 		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 chr 3:28,133,190...28,140,378
Ensembl chr 3:7,735,011...7,742,197 		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 chr12:37,608,211...37,640,860
Ensembl chr12:31,822,733...32,007,069 		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 chr10:45,705,157...45,721,282
Ensembl chr10:45,197,441...45,221,026 		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 chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		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 chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356 		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 chr10:70,711,084...71,170,492
Ensembl chr10:70,214,098...70,673,080 		JBrowse link
G Brip1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,402,035...71,528,083
Ensembl chr10:70,907,371...71,030,324 		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 chr14:71,466,179...71,482,671
Ensembl chr14:67,252,998...67,270,180 		JBrowse link
G C10h17orf67 similar to human chromosome 17 open reading frame 67 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:74,392,541...74,413,323
Ensembl chr10:73,895,343...73,916,133 		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 chr 1:164,127,304...164,225,088
Ensembl chr 1:154,715,310...154,812,520 		JBrowse link
G C7h12orf50 similar to human chromosome 12 open reading frame 50 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16682973 PMID:16909394 PMID:19764032 PMID:23954617 PMID:27821535 More... NCBI chr 7:35,406,147...35,443,324
Ensembl chr 7:35,411,555...35,443,320 		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 chr 3:28,718,648...28,720,232
Ensembl chr 3:8,305,920...8,323,495 		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 chr 3:27,779,133...27,944,292
Ensembl chr 3:7,380,922...7,546,091 		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 chr 3:29,144,318...29,206,382
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,325,102...70,333,916
Ensembl chr10:69,827,945...69,836,501 		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 chr 3:29,569,907...29,578,402
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Cby1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chr 7:113,097,220...113,103,831 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 chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		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 chr 3:28,826,918...28,837,072
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Cd38 CD38 molecule ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:71,384,532...71,424,794
Ensembl chr14:67,172,063...67,211,986 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr 5:169,817,383...169,849,681
Ensembl chr 5:164,534,782...164,567,248 		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: 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: 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 chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:60,238,602...60,279,670
Ensembl chr 4:59,271,218...59,310,668 		JBrowse link
G Chct1 CHD1 helical C-terminal domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,039,510...70,051,556
Ensembl chr10:70,039,680...70,051,542 		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 chr 3:28,429,413...28,437,210
Ensembl chr 3:8,033,246...8,037,961 		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 chr 3:28,670,176...28,672,166
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Cltc clathrin heavy chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,014,984...72,073,308
Ensembl chr10:71,517,663...71,573,737 		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 chr10:12,094,346...12,159,440
Ensembl chr10:11,588,017...11,619,711 		JBrowse link
G Coil coilin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,789,077...73,810,378
Ensembl chr10:73,789,488...73,810,393 		JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,117,664...45,151,868
Ensembl chr10:44,618,115...44,641,597 		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 chr 2:58,996,119...59,096,817
Ensembl chr 2:57,268,884...57,369,500 		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 chr 1:207,167,690...207,191,938
Ensembl chr 1:207,167,859...207,191,905 		JBrowse link
G Cuedc1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,892,637...72,986,546
Ensembl chr10:72,892,637...72,986,542 		JBrowse link
G Cyb561a3 cytochrome b561 family, member A3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571 		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 chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721 		JBrowse link
G Dgke diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:74,348,931...74,374,509
Ensembl chr10:73,855,583...73,877,100 		JBrowse link
G Dhx40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,584,546...71,621,479
Ensembl chr10:71,583,716...71,621,445 		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 chr 3:29,852,710...29,862,248
Ensembl chr 3:9,456,409...9,464,161 		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 chr 3:29,568,041...29,569,937
Ensembl chr 3:9,169,793...9,180,551 		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 chr 3:28,168,466...28,177,173
Ensembl chr 3:7,770,379...7,778,982 		JBrowse link
G Dpp7 dipeptidylpeptidase 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 chr 3:28,563,240...28,567,492
Ensembl chr 3:8,165,091...8,169,355 		JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369 		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 chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969 		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 chr10:73,264,260...73,283,042
Ensembl chr10:72,767,035...72,785,805 		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 chr 3:28,764,906...28,779,499
Ensembl chr 3:8,366,613...8,381,363 		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 chr  X:31,515,752...31,573,699
Ensembl chr  X:27,884,125...27,942,044 		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 chr 3:29,802,481...29,814,966
Ensembl chr 3:9,407,520...9,416,879 		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 chr 3:27,978,888...28,127,178
Ensembl chr 3:7,580,683...7,729,007 		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 chr12:37,686,149...37,694,830
Ensembl chr12:32,025,557...32,046,601 		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 chr 3:28,611,722...28,617,237
Ensembl chr 3:8,213,663...8,226,866 		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 chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		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 chr 3:29,599,059...29,605,780
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Epn2 epsin 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,697,238...46,759,128
Ensembl chr10:46,197,785...46,259,642 		JBrowse link
G Epx eosinophil peroxidase ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:28492532 NCBI chr10:73,164,096...73,175,180
Ensembl chr10:72,666,865...72,677,952 		JBrowse link
G Exoc8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:22700954 NCBI chr19:69,752,387...69,754,876
Ensembl chr19:52,852,578...52,857,491 		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 chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997 		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 chr10:46,862,983...46,887,499
Ensembl chr10:46,363,051...46,388,019 		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 chr14:71,517,452...71,559,850
Ensembl chr14:67,267,801...67,347,383 		JBrowse link
G Fbxw10 F-box and WD repeat domain containing 10 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907 		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 chr 3:28,720,670...28,725,237
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fgfbp1 fibroblast growth factor binding protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:67,103,686...67,107,492
Ensembl chr14:67,104,545...67,107,496 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,893,566...45,907,547
Ensembl chr10:45,394,032...45,407,970 		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 chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083 		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 chr 3:28,635,913...28,640,407
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,840,497...71,883,936
Ensembl chr10:71,840,497...71,883,850 		JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,721,055...45,747,132
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,026,023...29,037,010
Ensembl chr 3:8,627,911...8,636,335 		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 chr 3:29,538,929...29,565,921
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,798,423...46,851,524
Ensembl chr10:46,332,909...46,352,056 		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 chr 3:28,501,836...28,528,754
Ensembl chr 3:8,103,680...8,130,603 		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 chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497 		JBrowse link
G Heatr6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:68,635,048...68,665,445
Ensembl chr10:68,635,065...68,664,105 		JBrowse link
G Hsf5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406 		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 PMID:28492532 NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 More... NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Irx3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr19:31,384,803...31,388,241
Ensembl chr19:15,211,878...15,215,317 		JBrowse link
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr19:30,812,033...30,816,885
Ensembl chr19:14,624,225...14,642,318 		JBrowse link
G Irx6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr19:30,503,416...30,509,396
Ensembl chr19:14,330,440...14,336,403 		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 chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766 		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 chr 3:29,081,071...29,136,902
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Kiaa0586 KIAA0586 homolog 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 chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962 		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 chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		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 chr 7:36,782,621...36,863,796
Ensembl chr 7:34,896,053...34,977,214 		JBrowse link
G Lcn1 lipocalin 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 chr 3:29,930,943...29,935,418
Ensembl chr 3:9,532,915...9,536,577 		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 chr 3:28,888,901...28,892,454
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,710,557...28,713,537
Ensembl chr 3:8,305,920...8,323,495 		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 chr 3:28,882,133...28,887,697
Ensembl chr 3:8,484,013...8,489,574 		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 chr 3:28,866,061...28,869,045
Ensembl chr 3:8,467,934...8,470,918 		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 chr 3:29,041,710...29,050,677
Ensembl chr 3:8,636,548...8,652,200 		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 chr 3:29,424,620...29,432,637
Ensembl chr 3:9,027,425...9,034,480 		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 chr10:45,878,936...45,893,609
Ensembl chr10:45,379,515...45,394,094 		JBrowse link
G Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,104,170...73,124,683
Ensembl chr10:72,606,944...72,626,535 		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 chr 3:28,500,517...28,501,843
Ensembl chr 3:8,102,361...8,103,687 		JBrowse link
G Lrrc34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,780,523...28,789,139
Ensembl chr 3:8,382,387...8,391,003 		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 chr 3:28,539,778...28,563,155
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,669,721...46,675,768
Ensembl chr10:46,170,167...46,176,267 		JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,250,229...45,264,988
Ensembl chr10:44,750,698...44,765,464 		JBrowse link
G Mfap4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,666,552...46,669,613
Ensembl chr10:46,167,217...46,170,155 		JBrowse link
G Micall2 MICAL-like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr12:20,013,037...20,041,795
Ensembl chr12:14,899,157...14,927,946 		JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:29,813,150...29,813,267
Ensembl chr 3:9,415,063...9,415,180 		JBrowse link
G Mir21 microRNA 21 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348 		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: 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:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr10:73,152,599...73,167,451
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,092,124...73,102,057
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118 		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 chr 3:28,178,837...28,179,755
Ensembl chr 3:7,779,143...7,782,818 		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 chr 3:32,201,037...32,204,317
Ensembl chr 3:11,801,310...11,806,313 		JBrowse link
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,999,033...73,006,791
Ensembl chr10:72,998,497...73,006,264 		JBrowse link
G Msi2 musashi RNA-binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,640,960...74,007,497
Ensembl chr10:73,147,380...73,510,157 		JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,890,665...72,913,598
Ensembl chr10:72,392,551...72,416,342 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,278,737...45,335,340 		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 chr 3:29,278,077...29,345,098
Ensembl chr 3:8,883,065...8,946,660 		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 chr 3:28,460,787...28,469,018
Ensembl chr 3:8,062,630...8,070,860 		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 chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339 		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 chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531 		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 chr 3:28,293,643...28,309,828
Ensembl chr 3:7,895,488...7,905,967 		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 chr 3:28,618,601...28,624,591
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		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 chr 3:28,390,745...28,393,299
Ensembl chr 3:7,992,552...7,995,133 		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 chr 3:28,260,018...28,268,790
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,904,024...28,907,391
Ensembl chr 3:8,505,990...8,509,269 		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: Cerebelloparenchymal disorder 4 | 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 chr  X:31,647,000...31,687,768
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Olr1523 olfactory receptor 1523 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,205,498...73,206,439
Ensembl chr10:72,707,063...72,715,311 		JBrowse link
G Or4d2b olfactory receptor family 4 subfamily D member 2B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,190,242...73,191,177
Ensembl chr10:72,689,839...72,696,182 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,929,252...28,932,592
Ensembl chr 3:8,531,138...8,534,430 		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 chr 3:28,672,906...28,676,252
Ensembl chr 3:8,274,762...8,276,521 		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 chr 5:30,245,699...30,252,494
Ensembl chr 5:25,446,272...25,455,217 		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 chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688 		JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,275,434...45,349,651
Ensembl chr10:44,775,911...44,850,013 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,791,062...28,792,905 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 chr15:82,258,243...82,427,546
Ensembl chr15:75,850,624...76,019,712 		JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,078,081...45,080,732
Ensembl chr10:44,577,675...44,581,077 		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 chr 3:29,605,823...29,614,936
Ensembl chr 3:9,207,717...9,216,844 		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 chr 3:28,180,670...28,259,673
Ensembl chr 3:7,782,572...7,861,497 		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 chr10:70,670,026...70,706,030
Ensembl chr10:70,172,603...70,208,607 		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 chr10:72,548,906...72,684,702
Ensembl chr10:72,055,208...72,187,282 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		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 chr10:46,910,282...46,945,401
Ensembl chr10:46,410,835...46,445,849 		JBrowse link
G Prr11 proline rich 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,898,858...71,943,325
Ensembl chr10:71,901,202...71,921,012 		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 chr 3:28,680,044...28,682,978
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Ptrh2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,002,450...72,012,606
Ensembl chr10:71,504,956...71,515,398 		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 chr 3:29,433,091...29,462,739
Ensembl chr 3:9,034,994...9,064,664 		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 chr  X:27,955,552...28,009,870
Ensembl chr  X:27,952,204...28,001,622 		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 chr 3:28,800,802...28,826,722
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,702,299...72,728,980
Ensembl chr10:72,205,032...72,231,248 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,412,748...45,507,747
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,265,975...45,275,279
Ensembl chr10:44,766,455...44,768,186 		JBrowse link
G Rcor1 REST corepressor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chr 6:135,890,851...135,967,367
Ensembl chr 6:130,069,392...130,146,153 		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 chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Rnf112 ring finger protein 112 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,620,602...46,655,745
Ensembl chr10:46,121,148...46,126,699 		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 chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844 		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 chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945 		JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,958,744...73,034,540
Ensembl chr10:72,464,348...72,536,977 		JBrowse link
G Rnft1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,807,403...71,821,132
Ensembl chr10:71,310,104...71,323,778 		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: 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: 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 chr19:31,865,050...31,957,930
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Rps6kb1 ribosomal protein S6 kinase B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,817,794...71,865,211
Ensembl chr10:71,323,777...71,367,908 		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 chr 3:28,583,615...28,590,694
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Scpep1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:74,200,491...74,230,107
Ensembl chr10:73,703,278...73,732,850 		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 chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616 		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 chr 3:29,627,779...29,662,925
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,863,969...72,888,018
Ensembl chr10:72,366,873...72,390,768 		JBrowse link
G Shmt1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,968,959...45,990,341
Ensembl chr10:45,468,700...45,497,820 		JBrowse link
G Ska2 spindle and kinetochore associated complex subunit 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,418,707...72,436,721
Ensembl chr10:71,921,582...71,939,458 		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 chr 3:28,442,455...28,447,997
Ensembl chr 3:8,044,296...8,049,970 		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 chr10:46,533,580...46,590,128
Ensembl chr10:46,034,122...46,087,637 		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 chr10:46,851,527...46,898,460
Ensembl chr10:46,352,061...46,399,811 		JBrowse link
G Smcr8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,957,146...45,968,388
Ensembl chr10:45,457,605...45,468,876 		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 chr10:72,384,012...72,393,746
Ensembl chr10:71,886,744...71,895,760 		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 chr 3:29,580,157...29,598,440
Ensembl chr 3:9,182,067...9,199,518 		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 chr 3:29,061,267...29,065,588
Ensembl chr 3:8,663,318...8,667,388 		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 chr10:45,507,152...45,529,164
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,335,519...73,342,549
Ensembl chr10:72,839,274...72,845,336 		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 chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356 		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 chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601 		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 chr10:73,036,560...73,042,821
Ensembl chr10:72,539,382...72,545,831 		JBrowse link
G Sycp3l1 synaptonemal complex protein 3 like 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 More... NCBI chr 1:186,108,544...186,111,598
Ensembl chr 1:186,108,920...186,109,630 		JBrowse link
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr14:71,085,966...71,132,228
Ensembl chr14:66,873,459...66,919,741 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,177,082...71,186,275
Ensembl chr10:70,679,518...70,688,529 		JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,228,145...71,258,222
Ensembl chr10:70,731,163...70,760,825 		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 chr  X:27,952,539...27,961,038
Ensembl chr  X:27,952,457...27,960,940 		JBrowse link
G Tctn1 tectonic family member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 More... NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267 		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-Boltshauser syndrome
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,729,017...72,859,697
Ensembl chr10:72,231,801...72,355,805 		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 chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847 		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 chr  X:30,644,324...30,670,796
Ensembl chr  X:27,027,425...27,054,754 		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 chr  X:30,708,714...30,733,104
Ensembl chr  X:27,091,778...27,116,549 		JBrowse link
G Tmem138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr 1:207,219,113...207,226,159 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 chr 3:28,837,665...28,839,623
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233 		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 chr 3:28,469,062...28,469,890
Ensembl chr 3:8,070,914...8,071,867 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643 		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 chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		JBrowse link
G Tmem231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269 		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 chr 9:68,027,481...68,066,731
Ensembl chr 9:60,535,233...60,572,567 		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 chr 3:29,360,770...29,364,756
Ensembl chr 3:8,962,657...8,966,349 		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 chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		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 chr  X:30,761,611...30,763,612
Ensembl chr  X:27,128,610...27,146,667
Ensembl chr10:27,128,610...27,146,667 		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 chr 7:37,151,456...37,196,550
Ensembl chr 7:35,264,892...35,310,385 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:46,301,336...46,322,460
Ensembl chr10:45,801,860...45,822,987 		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 chr 6:88,755,264...88,819,599
Ensembl chr 6:83,018,859...83,082,807 		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 chr10:45,535,548...45,657,528
Ensembl chr10:45,036,035...45,158,032 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		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 chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042 		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 chr 3:28,474,322...28,481,800
Ensembl chr 3:8,075,137...8,083,642 		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 chr 3:28,740,098...28,764,752
Ensembl chr 3:8,341,951...8,366,538 		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 chr  X:31,617,107...31,647,035
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
G Trim25 tripartite motif-containing 25 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:74,310,024...74,328,473
Ensembl chr10:73,812,818...73,831,257 		JBrowse link
G Trim37 tripartite motif-containing 37 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,440,672...72,572,831
Ensembl chr10:71,943,375...72,075,558 		JBrowse link
G Tspoap1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412 		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 chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 3:28,435,999...28,438,455
Ensembl chr 3:8,037,799...8,040,296 		JBrowse link
G Tubd1 tubulin, delta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,367,936...71,391,387
Ensembl chr10:71,368,133...71,391,266 		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 chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203 		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 chr 3:28,570,854...28,579,766
Ensembl chr 3:8,173,216...8,180,443 		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 chr 3:29,223,582...29,246,216
Ensembl chr 3:8,825,447...8,848,028 		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 chr13:102,368,783...103,035,230
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Usp32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:70,353,310...70,538,008
Ensembl chr10:69,855,885...70,029,137 		JBrowse link
G Vezf1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:73,341,666...73,373,320
Ensembl chr10:72,859,877...72,876,111 		JBrowse link
G Vmp1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:71,903,223...72,002,337
Ensembl chr10:71,405,452...71,505,007 		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 chr14:99,847,463...100,178,392
Ensembl chr14:95,646,038...95,977,113 		JBrowse link
G Ypel2 yippee-like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr10:72,243,591...72,301,124
Ensembl chr10:71,746,311...71,803,911 		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 chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514 		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
CTD Direct Evidence: marker/mechanism
DNA:misense mutation:exon:c.35G>T(p.R12L)(human)		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11561919 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		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 chr 1:17,580,859...17,711,775
Ensembl chr 1:15,762,462...15,891,041 		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 chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: JOUBERT SYNDROME 4 | ClinVar Annotator: match by term: Joubert syndrome 4 | ClinVar Annotator: match by term: Joubert syndrome with renal defect
CTD Direct Evidence: marker/mechanism
associated with Kidney Diseases, Cystic;DNA:mutation		 OMIM
ClinVar
CTD
RGD		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:7246903 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		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 chr14:5,541,821...5,585,140
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr15:27,282,997...27,341,021
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO
ISS		 ClinVar Annotator: match by term: Joubert syndrome 7
OMIM:611560
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, splice-site mutation:exon, intron:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 More... RGD:11537350 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:15,692,150...15,785,083 		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 chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		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 chr15:41,635,572...41,707,252
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2624270 PMID:2976441 PMID:7151342 PMID:9398836 PMID:9536098 More... NCBI chr10:69,233,377...69,287,360
Ensembl chr10:68,735,894...68,789,888 		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 chr 5:166,636,551...166,659,825
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:27657687 NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321 		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 chr 4:10,744,695...10,985,939
Ensembl chr 4:10,010,890...10,252,142 		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 chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356 		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 chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		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 chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		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 chr 5:13,860,072...13,975,299
Ensembl chr 5:9,077,161...9,193,377 		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 chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Hoxb6 homeo box B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chr10:81,755,263...81,763,999
Ensembl chr10:81,265,056...81,267,449 		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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:73,152,599...73,167,451
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		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 chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		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 chr19:31,865,050...31,957,930
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		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 chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:54,268,218...54,273,520
Ensembl chr10:53,771,784...53,774,676 		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 chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269 		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: Meckel syndrome, type 1		 ClinVar PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		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 chr13:50,478,646...50,542,256
Ensembl chr13:47,927,044...47,989,164 		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 chr10:54,268,218...54,273,520
Ensembl chr10:53,771,784...53,774,676 		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
CTD Direct Evidence: marker/mechanism
DNA:missense,frameshift,nonsense mutations:cds,splice junction:		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		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
IAGP		 ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3
CTD Direct Evidence: marker/mechanism
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:16415887 RGD:11535082
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
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:frameshift mutation:exon:c.5489del (human)		 OMIM
ClinVar
CTD
RGD		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... RGD:11063677, RGD:11070805 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		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 chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3442652 PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr19:31,865,050...31,957,930
Ensembl chr19:15,692,150...15,785,083 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		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 chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		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 chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		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 chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		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 chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO mRNA, protein:increased expression:kidney RGD PMID:9200407 RGD:2298582 NCBI chr12:20,759,366...20,780,337
Ensembl chr12:15,645,541...15,666,497 		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 chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Scaf4 SR-related CTD-associated factor 4 ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar NCBI chr11:42,951,254...43,007,293
Ensembl chr11:29,465,106...29,521,153 		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 chr 8:113,560,142...113,625,346
Ensembl chr 8:104,681,396...104,746,560 		JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:113,595,325...113,599,762
Ensembl chr 8:104,716,067...104,723,617 		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 chr 4:126,847,726...127,019,924
Ensembl chr 4:125,291,490...125,462,929 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISS
ISO		 ClinVar Annotator: match by term: Nephronophthisis MouseDO
ClinVar		 PMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 More... NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Ajap1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 5:169,190,477...169,302,938
Ensembl chr 5:163,907,847...164,020,317 		JBrowse link
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297 		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 chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Anp32b acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:65,538,872...65,561,305
Ensembl chr 5:60,743,443...60,765,717 		JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:54,967,621...55,031,264
Ensembl chr 8:46,071,076...46,134,336 		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 chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:23530209 PMID:24882706 PMID:28492532 NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574 		JBrowse link
G Cntrl centriolin ISS MouseDO NCBI chr 3:38,825,575...38,897,835
Ensembl chr 3:18,428,103...18,500,380 		JBrowse link
G Col15a1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:66,297,546...66,403,172
Ensembl chr 5:61,501,963...61,607,591 		JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035 		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 chr 2:58,996,119...59,096,817
Ensembl chr 2:57,268,884...57,369,500 		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 chr 3:70,906,587...71,102,596
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 8:113,646,573...113,756,104
Ensembl chr 8:104,767,788...104,877,317 		JBrowse link
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:67,313,245...67,406,207
Ensembl chr 5:62,516,551...62,610,761 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:77,680,901...77,722,608
Ensembl chr14:73,456,222...73,498,099 		JBrowse link
G Fam186b family with sequence similarity 186, member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 7:130,408,830...130,424,261
Ensembl chr 7:130,408,830...130,424,261 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:65,425,630...65,428,438
Ensembl chr 5:60,630,027...60,632,835 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083 		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 chr 5:65,743,073...66,083,695
Ensembl chr 5:60,947,526...61,288,104 		JBrowse link
G Galnt12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:61,384,575...61,413,346
Ensembl chr 5:61,384,571...61,413,354 		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 chr 3:71,150,559...71,187,321
Ensembl chr 3:50,742,512...50,766,268 		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 chr10:11,457,594...11,484,948
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15723066 PMID:20881296 PMID:28492532 NCBI chr11:77,348,573...77,406,165
Ensembl chr11:63,843,986...63,900,770 		JBrowse link
G Hemgn hemogen ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,679,633...60,698,597
Ensembl chr 5:60,679,633...60,698,669 		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 chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Incenp inner centromere protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 1:206,520,655...206,550,575
Ensembl chr 1:206,523,380...206,553,265 		JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:27158779 PMID:28492532 NCBI chr 2:125,528,965...125,613,295
Ensembl chr 2:123,609,807...123,682,676 		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 chr 5:67,406,511...67,559,355
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO DNA:deletion, nonsense mutations, splice-site mutation:exon, intron:multiple
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... RGD:11537341 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,639,200...2,812,316 		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 chr 5:168,182,228...168,270,760
Ensembl chr 5:162,901,896...162,988,243 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:133,640,065...133,658,576 		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 chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785 		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 chr 3:144,654,563...144,672,831
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Nans N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Ncbp1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,416,023...60,449,004
Ensembl chr 5:60,415,982...60,449,089 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:57,399,445...57,565,899 		JBrowse link
G Nphp1 nephrocystin 1 ISO DNA:deletions, nonsense mutations:cds:multiple
ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:11065524 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp3 nephrocystin 3 ISO DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 PMID:9536098 PMID:10631142 PMID:12872122 PMID:16199547 PMID:17576681 More... RGD:11065524 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:deletion, missense mutations, splice-site mutation:cds, intron:multiple
ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... RGD:11065524 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Nr4a3 nuclear receptor subfamily 4, group A, member 3 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:67,157,141...67,198,287
Ensembl chr 5:62,361,822...62,402,733 		JBrowse link
G Pias1 protein inhibitor of activated STAT, 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 8:72,233,566...72,347,085
Ensembl chr 8:63,338,150...63,438,905 		JBrowse link
G Rbm48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 4:31,513,811...31,524,149
Ensembl chr 4:30,559,087...30,569,406 		JBrowse link
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 chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
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 chr 1:40,859,829...40,894,376
Ensembl chr 1:40,859,829...40,894,314 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO associated with Joubert Syndrome 7;DNA:mutations:exons:
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8		 ClinVar
RGD		 PMID:3442652 PMID:18414213 PMID:19430481 PMID:20301500 PMID:25741868 More... RGD:11073359 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
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 chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
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 chr 3:70,554,496...70,666,198
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
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 chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISS MouseDO NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Sec61b SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:66,569,184...66,577,394
Ensembl chr 5:61,773,594...61,781,804 		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 chr 7:59,215,007...59,479,600
Ensembl chr 7:57,329,532...57,596,196 		JBrowse link
G Stx17 syntaxin 17 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:67,241,673...67,302,228
Ensembl chr 5:62,446,187...62,504,451 		JBrowse link
G Tbc1d2 TBC1 domain family, member 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:65,679,670...65,727,978
Ensembl chr 5:60,884,124...60,931,352 		JBrowse link
G Tdrd7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:65,034,317...65,108,165
Ensembl chr 5:60,238,678...60,312,544 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 8:112,944,925...113,238,996
Ensembl chr 8:104,066,078...104,360,094 		JBrowse link
G Tmem67 transmembrane protein 67 ISO associated with liver cirrhosis;DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: Nephronophthisis		 ClinVar
RGD		 PMID:17160906 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 More... RGD:329951006 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmod1 tropomodulin 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:65,112,062...65,189,563
Ensembl chr 5:60,338,512...60,393,956 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:65,596,149...65,620,434
Ensembl chr 5:60,800,032...60,824,858 		JBrowse link
G Trmo tRNA methyltransferase O ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,663,106...60,676,423
Ensembl chr 5:60,667,864...60,676,423 		JBrowse link
G Tstd2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:60,371,751...60,415,916
Ensembl chr 5:60,393,454...60,415,916 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Uba5 ubiquitin-like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 8:113,544,037...113,559,711
Ensembl chr 8:104,665,046...104,680,894 		JBrowse link
G Wwtr1 WW domain containing transcription regulator 1 ISS MouseDO NCBI chr 2:143,801,181...143,916,941
Ensembl chr 2:141,648,108...141,766,968 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 5:65,227,281...65,275,784
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
nephronophthisis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:54,967,621...55,031,264
Ensembl chr 8:46,071,076...46,134,336 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:22425360 PMID:24178751 PMID:25741868 PMID:26092869 PMID:28087721 More... NCBI chr 2:58,996,119...59,096,817
Ensembl chr 2:57,268,884...57,369,500 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:70,906,587...71,102,596
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:17618285 PMID:25741868 PMID:28492532 NCBI chr10:11,457,594...11,484,948
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:9536098 PMID:17576681 PMID:22503633 PMID:25741868 PMID:28288023 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Intu inturned planar cell polarity protein ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:27158779 PMID:28492532 NCBI chr 2:125,528,965...125,613,295
Ensembl chr 2:123,609,807...123,682,676 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:12872123 PMID:16522655 PMID:17855640 PMID:18076122 PMID:19177160 More... NCBI chr 5:67,406,511...67,559,355
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Nephronophthisis 1 ClinVar PMID:10839884 PMID:10980528 PMID:25741868 NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chr 3:144,654,563...144,672,831
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Nephronophthisis 1 ClinVar PMID:10839884 PMID:10980528 PMID:25741868 NCBI chr 3:115,018,810...115,019,668
Ensembl chr 3:115,019,473...115,019,643
Ensembl chr 3:115,019,473...115,019,643 		JBrowse link
G Nphp1 nephrocystin 1 ISO
ISS		 ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis
OMIM:256100
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple
DNA:missense mutations:cds:p.R586X (human)
DNA:deletion: :		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... RGD:11537341, RGD:7246904, RGD:7246902, RGD:7246900 NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis		 ClinVar PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 PMID:15776426 More... NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 More... NCBI chr 1:40,859,829...40,894,376
Ensembl chr 1:40,859,829...40,894,314 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:70,554,496...70,666,198
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr 7:59,215,007...59,479,600
Ensembl chr 7:57,329,532...57,596,196 		JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:17160906 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
nephronophthisis 11 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: Nephronophthisis 11
DNA:missense mutations: :p.C615R (c.1843T>C), p.Q747E (c.2239C>G) (human)
DNA:missense mutations: :multiple		 OMIM
ClinVar
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... RGD:11535942, RGD:11535941 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
nephronophthisis 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Nephronophthisis 12 | ClinVar Annotator: match by term: TTC21B-related disorder OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
nephronophthisis 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Nephronophthisis 13
DNA:missense mutations, snps, insertion:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.V345G, p.Y1023X (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More... RGD:11553845, RGD:11552603 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
nephronophthisis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy7 adenylate cyclase 7 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,913,154...34,972,366
Ensembl chr19:18,740,875...18,776,311 		JBrowse link
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,882,238...34,910,944
Ensembl chr19:18,709,022...18,737,494 		JBrowse link
G Cnep1r1 CTD nuclear envelope phosphatase 1 regulatory subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,487,491...34,547,311
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:35,065,915...35,103,779
Ensembl chr19:18,893,144...18,930,509 		JBrowse link
G Nkd1 NKD inhibitor of WNT signaling pathway 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,179,316...34,196,278
Ensembl chr19:18,007,503...18,022,705 		JBrowse link
G Snx20 sorting nexin 20 ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,609,397...34,618,569
Ensembl chr19:18,435,935...18,445,107 		JBrowse link
G Tent4b terminal nucleotidyltransferase 4B ISO ClinVar Annotator: match by term: Nephronophthisis 14 ClinVar PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 PMID:22308078 More... NCBI chr19:34,984,244...35,042,423
Ensembl chr19:18,807,525...18,869,537 		JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition OMIM
ClinVar		 PMID:9536098 PMID:9973281 PMID:12915476 PMID:16088922 PMID:16429401 More... NCBI chr19:35,282,149...35,580,775
Ensembl chr19:19,110,238...19,407,373 		JBrowse link
nephronophthisis 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,435,779...55,438,160
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,446,329...55,460,509
Ensembl chr 8:46,561,229...46,563,816 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,038,842...55,061,138
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Nephronophthisis 15 OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17954613 More... NCBI chr 8:54,967,621...55,031,264
Ensembl chr 8:46,071,076...46,134,336 		JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:54,637,054...54,954,042
Ensembl chr 8:45,740,298...46,057,320 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:54,609,658...54,616,788
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:54,575,578...54,602,715
Ensembl chr 8:45,678,885...45,705,958 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:54,459,754...54,474,786
Ensembl chr 8:45,563,137...45,578,061 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,156,778...55,208,800
Ensembl chr 8:46,261,064...46,279,833 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,098,821...55,121,416
Ensembl chr 8:46,202,131...46,224,705 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,129,091...55,146,446
Ensembl chr 8:46,232,383...46,248,700 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,208,969...55,419,138
Ensembl chr 8:46,311,989...46,522,444 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:55,121,647...55,127,121
Ensembl chr 8:46,222,472...46,230,668 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Nephronophthisis 15 ClinVar PMID:22863007 PMID:28125082 PMID:28492532 PMID:32367404 PMID:34132027 More... NCBI chr 8:54,522,069...54,550,673
Ensembl chr 8:45,625,626...45,653,938 		JBrowse link
nephronophthisis 16 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 ClinVar Annotator: match by term: Nephronophthisis 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23793029 PMID:24610927 PMID:25599650 More... NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
nephronophthisis 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Nephronophthisis 18 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23530209 PMID:24882706 More... NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574 		JBrowse link
G Plxnc1 plexin C1 ISO ClinVar Annotator: match by term: Nephronophthisis 18 ClinVar PMID:28492532 NCBI chr 7:31,276,978...31,430,823
Ensembl chr 7:29,390,048...29,543,779 		JBrowse link
nephronophthisis 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis 19 OMIM
ClinVar		 PMID:16199547 PMID:25557784 PMID:25741868 PMID:26467025 PMID:27319779 More... NCBI chr17:40,274,009...40,459,757
Ensembl chr17:39,845,952...40,030,743 		JBrowse link
nephronophthisis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erp44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Infantile nephronophthisis ClinVar PMID:25741868 NCBI chr 5:67,313,245...67,406,207
Ensembl chr 5:62,516,551...62,610,761 		JBrowse link
G Invs inversin ISO
ISS		 ClinVar Annotator: match by term: INVS-related condition | ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile
OMIM:602088
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, non-sense mutations, frameshift mutations:		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2702088 PMID:9536098 PMID:11935322 PMID:12872123 PMID:15852005 More... RGD:155791687 NCBI chr 5:67,406,511...67,559,355
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Infantile nephronophthisis ClinVar PMID:16199547 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
nephronophthisis 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkbp1 mitogen activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: MAPKBP1-related condition | ClinVar Annotator: match by term: Nephronophthisis 20 OMIM
ClinVar		 PMID:25741868 PMID:28089251 PMID:28492532 PMID:32055034 NCBI chr 3:106,947,342...106,998,368
Ensembl chr 3:106,947,827...106,996,199 		JBrowse link
nephronophthisis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO
ISS		 ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3
OMIM:604387
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... RGD:11071511 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
nephronophthisis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Nephronophthisis 4 ClinVar PMID:16380913 PMID:20177705 PMID:25741868 PMID:28492532 PMID:30614526 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
G Nphp4 nephrocystin 4 ISO
ISS		 ClinVar Annotator: match by term: NPHP4-related condition | ClinVar Annotator: match by term: Nephronophthisis 4
OMIM:606966
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutations, splice-site mutations:exon, intron:multiple
DNA:nonsense mutation: :3272del (human)
DNA:nonsense mutations, duplications:exon:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1248184 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 More... RGD:11537355, RGD:11537342, RGD:11537341 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
nephronophthisis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis2 GLIS family zinc finger 2 ISO
ISS		 ClinVar Annotator: match by term: GLIS2-related condition | ClinVar Annotator: match by term: Nephronophthisis 7
OMIM:611498
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 More... NCBI chr10:11,457,594...11,484,948
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
nephronophthisis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISO
IAGP		 ClinVar Annotator: match by term: Nephronophthisis 9
compared to control Lewis		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18199800 PMID:22106379 More... RGD:40924667 NCBI chr10:63,558,940...63,570,954
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
G Nek8lpkArc NIMA-related kinase 8; lpk mutant, Arc IAGP compared to control Lewis RGD PMID:22899815 RGD:40924667
nephronophthisis-like nephropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chadl chondroadherin-like ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:115,085,447...115,097,565
Ensembl chr 7:113,210,748...113,217,272 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:115,066,427...115,087,625
Ensembl chr 7:113,186,370...113,207,489 		JBrowse link
G Rangap1 RAN GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:115,104,820...115,130,564
Ensembl chr 7:113,224,703...113,250,438 		JBrowse link
G Rbx1 ring-box 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:114,870,893...114,881,194
Ensembl chr 7:112,990,835...113,001,051 		JBrowse link
G Xpnpep3 X-prolyl aminopeptidase 3 ISO ClinVar Annotator: match by term: Nephronophthisis-Like Nephropathy | ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 | ClinVar Annotator: match by term: XPNPEP3-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20179356 PMID:21068128 More... NCBI chr 7:114,806,398...114,858,934
Ensembl chr 7:112,926,248...112,974,878 		JBrowse link
G Zc3h7b zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr 7:115,142,245...115,190,513
Ensembl chr 7:113,262,165...113,310,399 		JBrowse link
Nephronophthisis-like Nephropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc41a1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2 OMIM
ClinVar		 PMID:23661805 PMID:25741868 PMID:28492532 NCBI chr13:45,822,999...45,843,364
Ensembl chr13:43,270,792...43,291,162 		JBrowse link
polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ager advanced glycosylation end product-specific receptor ISO protein:increased expression:kidney (mouse) RGD PMID:20606421 RGD:7244164 NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Agt angiotensinogen IDA RGD PMID:20798958 RGD:12879406 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:31395617 NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:51,119,365...51,182,261 		JBrowse link
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP
IMP		 DNA:mutation:cds:p.R823W(rat) RGD PMID:16207829 PMID:7933831 PMID:21119215 RGD:11534987, RGD:1300446, RGD:7207426 NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
G Anks6PKD ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease IMP
IAGP		 RGD PMID:21119215 PMID:7933831 RGD:7207426, RGD:1300446
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Kidney, Polycystic ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G Apoa1 apolipoprotein A1 ISO RGD PMID:19637234 RGD:7241572 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Atf1 activating transcription factor 1 IEP mRNA:increased expression:kidney (rat) RGD PMID:19924104 RGD:2316104 NCBI chr 7:133,240,774...133,283,488
Ensembl chr 7:131,362,450...131,404,670 		JBrowse link
G Becn1 beclin 1 IEP
ISO		 protein:increased expression:renal cortex RGD PMID:21270095 PMID:21270095 RGD:6483074, RGD:6483074 NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bglap bone gamma-carboxyglutamate protein IEP protein:increased expression:serum RGD PMID:12376805 RGD:7207414 NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G C9 complement C9 treatment IEP RGD PMID:24494798 RGD:8661641 NCBI chr 2:57,300,510...57,348,759
Ensembl chr 2:55,572,992...55,621,338 		JBrowse link
G Cfb complement factor B treatment IEP RGD PMID:24494798 RGD:8661641 NCBI chr20:3,975,271...3,981,138
Ensembl chr20:3,951,474...3,976,505 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:31922066 NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Ctsb cathepsin B IEP protein:increased expression:kidney proximal tubule RGD PMID:8840269 RGD:5686402 NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsh cathepsin H IEP protein:increased expression:kidney proximal tubule RGD PMID:8840269 RGD:5686402 NCBI chr 8:99,488,756...99,507,639
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Deup1 deuterosome assembly protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199 		JBrowse link
G Dhx34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:31256877 NCBI chr 1:76,880,867...76,905,148
Ensembl chr 1:76,880,867...76,905,113 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 treatment IEP RGD PMID:32685025 RGD:155791442 NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 NCBI chr11:91,656,334...91,672,800
Ensembl chr11:78,150,429...78,180,407 		JBrowse link
G Epas1 endothelial PAS domain protein 1 IEP RGD PMID:17322369 RGD:10395372 NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Ganab glucosidase II alpha subunit ISO DNA:mutations: : RGD PMID:27259053 RGD:11352639 NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Gnas GNAS complex locus IEP protein:increased expression:cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 IEP mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr 9:83,309,895...83,312,397
Ensembl chr 9:75,860,677...75,863,168 		JBrowse link
G Hdac6 histone deacetylase 6 treatment IMP RGD PMID:24434010 RGD:9681551 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP RGD PMID:17322369 RGD:10395372 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:16199547 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Invs inversin severity ISO RGD PMID:16999740 RGD:155794378 NCBI chr 5:67,406,511...67,559,355
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Kif3a kinesin family member 3a ISS MouseDO NCBI chr10:38,226,388...38,263,062
Ensembl chr10:37,725,970...37,759,191 		JBrowse link
G Lcn2 lipocalin 2 ISO mRNA:increased expression:kidney, epithelial cell RGD PMID:22258321 RGD:126790531 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:25711638 PMID:25741868 PMID:25920554 PMID:28492532 PMID:30283887 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 NCBI chr10:73,152,599...73,167,451
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mmp12 matrix metallopeptidase 12 ISO RGD PMID:18606867 RGD:7241222 NCBI chr 8:12,866,652...12,876,554
Ensembl chr 8:4,581,785...4,599,611 		JBrowse link
G Mtor mechanistic target of rapamycin kinase IEP RGD PMID:22160773 RGD:7245545 NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor IEP
ISO		 mRNA:increased expression:kidney (rat) RGD PMID:21119215 PMID:9422539 RGD:7207426, RGD:7207451 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:kidney: RGD PMID:12675853 RGD:11534000 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:18371931 PMID:20007846 PMID:23559409 PMID:25741868 PMID:26673778 More... NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nppb natriuretic peptide B treatment IDA RGD PMID:28416225 RGD:14701038 NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting IAGP
ISO		 ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1740684 PMID:2215575 PMID:7581371 PMID:8004675 PMID:8320707 More... RGD:633540 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar
RGD		 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 PMID:9773786 More... RGD:13524568 NCBI chr14:5,541,821...5,585,140
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO mRNA:decreased expression:kidney
ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type		 ClinVar
RGD		 PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... RGD:1642440 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Pla2g4a phospholipase A2 group 4A IEP protein:increased expression:kidney RGD PMID:12490538 RGD:1642471 NCBI chr13:64,427,921...64,572,352
Ensembl chr13:61,877,813...62,022,266 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Plcg1 phospholipase C, gamma 1 TAS RGD PMID:12009430 RGD:625563 NCBI chr 3:169,805,299...169,836,040
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment IDA RGD PMID:21147840 RGD:14701037 NCBI chr 4:150,095,743...150,221,104
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Prkcsh PRKCSH beta subunit of glucosidase II ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr 8:28,810,836...28,822,503
Ensembl chr 8:20,534,880...20,546,492 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP protein:increased expression:kidney RGD PMID:17537981 RGD:2300262 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP protein:increased expression:kidney RGD PMID:17537981 RGD:2300262 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptma prothymosin alpha ISS MouseDO NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:87,176,230...87,180,333 		JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055 		JBrowse link
G Slc7a9 solute carrier family 7 member 9 ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:25741868 NCBI chr 1:97,246,253...97,269,546
Ensembl chr 1:88,110,644...88,132,641 		JBrowse link
G Sod1 superoxide dismutase 1 IEP mRNA:decreased expression:kidney (rat) RGD PMID:23006058 RGD:8657020 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Stat6 signal transducer and activator of transcription 6 ISO RGD PMID:22025716 RGD:7243974 NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495 		JBrowse link
G Tnc tenascin C IEP protein:increased expression:kidney RGD PMID:15565633 RGD:4889614 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:17304050 PMID:21115670 PMID:22703879 PMID:22903760 PMID:24611717 More... NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Tulp3 TUB like protein 3 ISS MouseDO NCBI chr 4:163,276,583...163,318,297
Ensembl chr 4:161,590,479...161,632,149 		JBrowse link
G Xylt2 xylosyltransferase 2 ISS MouseDO NCBI chr10:80,102,776...80,116,346
Ensembl chr10:79,606,007...79,619,391 		JBrowse link
polycystic kidney disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease 1 ClinVar PMID:25711638 PMID:25741868 PMID:25920554 PMID:28492532 PMID:30283887 NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:renal cortex (human)
mRNA:increased expression:kidney (mouse)		 RGD PMID:19346236 PMID:16449663 RGD:7207447, RGD:7207779 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO
ISS		 ClinVar Annotator: match by term: PKD1-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 1
ClinVar Annotator: match by term: PKD1-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 1
OMIM:173900		 OMIM
ClinVar
MouseDO		 PMID:9199561 PMID:9668165 PMID:10364515 PMID:10854095 PMID:10923038 More... NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
polycystic kidney disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam13a family with sequence similarity 13, member A ISO ClinVar Annotator: match by term: Polycystic kidney disease 2 ClinVar PMID:25741868 NCBI chr 4:89,386,685...89,485,940
Ensembl chr 4:88,058,403...88,155,860 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 2 ClinVar PMID:11115377 PMID:19158373 PMID:24611717 PMID:25741868 PMID:33532864 NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO
ISS		 ClinVar Annotator: match by term: PKD2-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 2
OMIM:613095		 OMIM
ClinVar
MouseDO		 PMID:1605247 PMID:8650545 PMID:9175744 PMID:9326320 PMID:9402976 More... NCBI chr14:5,541,821...5,585,140
Ensembl chr14:5,237,135...5,280,825 		JBrowse link
polycystic kidney disease 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ganab glucosidase II alpha subunit ISO ClinVar Annotator: match by term: GANAB-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease OMIM
ClinVar		 PMID:25741868 PMID:27259053 PMID:28492532 PMID:30333007 PMID:33097077 More... NCBI chr 1:205,793,910...205,813,704
Ensembl chr 1:205,793,895...205,813,695 		JBrowse link
G Ints5 integrator complex subunit 5 ISO ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease ClinVar NCBI chr 1:205,788,906...205,793,685
Ensembl chr 1:205,788,906...205,793,685 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease ClinVar PMID:10364515 PMID:10854095 PMID:15772804 PMID:17582161 PMID:21115670 More... NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: Polycystic kidney disease 3 with or without polycystic liver disease ClinVar PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: PKD3 ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
polycystic kidney disease 4 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
ISS		 ClinVar Annotator: match by term: PKHD1-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I | ClinVar Annotator: match by term: Polycystic kidney disease 4
OMIM:263200		 OMIM
ClinVar
MouseDO		 PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: PKD3 ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:262,964,345...263,052,898
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
polycystic kidney disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dzip1l DAZ interacting zinc finger protein 1-like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988 		JBrowse link
polycystic kidney disease 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: DNAJB11-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 6 with or without polycystic liver disease OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29706351 PMID:32631624 PMID:33129895 More... NCBI chr11:91,656,334...91,672,800
Ensembl chr11:78,150,429...78,180,407 		JBrowse link
polycystic kidney disease 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg5 ALG5, dolichyl-phosphate beta-glucosyltransferase ISO ClinVar Annotator: match by term: Polycystic kidney disease 7 OMIM
ClinVar		 PMID:25741868 PMID:35896117 PMID:39081747 NCBI chr 2:138,936,998...138,951,228
Ensembl chr 2:138,936,993...138,951,216 		JBrowse link
POLYCYSTIC KIDNEY DISEASE 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISO ClinVar Annotator: match by term: Polycystic kidney disease 8 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36215968 PMID:37598857 NCBI chr10:63,558,940...63,570,954
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
renal-hepatic-pancreatic dysplasia 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: Renal-hepatic-pancreatic dysplasia ClinVar PMID:25741868 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 1 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: Renal-hepatic-pancreatic dysplasia 1 OMIM
ClinVar		 PMID:8874114 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 OMIM
ClinVar		 PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 More... NCBI chr10:63,558,940...63,570,954
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
Senior-Loken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS | ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis
ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia		 CTD
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human)
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome		 ClinVar
RGD		 PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More... RGD:11552600 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 1 OMIM
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 5
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations:exon:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... RGD:11537383 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
Senior-Loken Syndrome 6 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: Senior-Loken syndrome 6
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3442652 PMID:9536098 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adss2 adenylosuccinate synthase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:92,301,302...92,331,638
Ensembl chr13:89,769,244...89,799,604 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 More... NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Catspere catsper channel auxiliary subunit epsilon ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:92,331,826...92,487,215
Ensembl chr13:89,819,244...89,950,979 		JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:22190896 PMID:28492532 NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226 		JBrowse link
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:92,592,260...92,604,129
Ensembl chr14:6,567,733...6,568,056 		JBrowse link
G Desi2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:92,493,765...92,543,307
Ensembl chr13:89,961,934...90,016,416 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:92,609,791...92,618,580
Ensembl chr13:90,074,181...90,086,588 		JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:20835237 PMID:28492532 NCBI chr13:90,426,689...90,765,072
Ensembl chr13:87,896,369...88,232,868 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: SDCCAG8-related condition | ClinVar Annotator: match by term: Senior-Loken syndrome 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 More... NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Spmip3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817 		JBrowse link
G Zbtb18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:91,971,602...91,980,058
Ensembl chr13:89,439,420...89,448,862 		JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 8 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More... NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 9 | ClinVar Annotator: match by term: TRAF3IP1-related condition OMIM
ClinVar		 PMID:16199547 PMID:21945076 PMID:25741868 PMID:26487268 PMID:28492532 More... NCBI chr 9:99,521,176...99,557,966
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
ventriculomegaly - cystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: CRB2-related condition | ClinVar Annotator: match by term: Ventriculomegaly-cystic kidney disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25557779 PMID:25557780 PMID:25741868 PMID:26795916 PMID:26925547 More... NCBI chr 3:41,946,694...41,974,629
Ensembl chr 3:21,542,221...21,563,294 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      Urogenital Diseases 5402
        urinary system disease 2834
          kidney disease 2580
            cystic kidney disease 523
              Autosomal Dominant Tubulointerstitial Kidney Disease 1 2
              Baraitser Rodeck Garner syndrome 0
              Brachymesomelia Renal Syndrome 0
              Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 0
              Joubert Syndrome 2 1
              Joubert syndrome 1 239
              Joubert syndrome 4 4
              Joubert syndrome 7 3
              Meckel Syndrome 12 1
              Medullary Sponge Kidney + 1
              Multicystic Dysplastic Kidney + 8
              Senior-Loken syndrome + 20
              Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 0
              Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 0
              diffuse cystic renal dysplasia 3
              maturity-onset diabetes of the young type 5 6
              nephronophthisis + 118
              non-congenital cyst of kidney 0
              polycystic kidney disease + 161
              renal-hepatic-pancreatic dysplasia + 2
              ventriculomegaly - cystic kidney disease 1
paths to the root