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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 9:69,818,669...69,886,618
Ensembl chr 9:97,941,935...98,005,795 		JBrowse link
G ARL13B ARF like GTPase 13B ISO RGD PMID:27153923 RGD:11553938 NCBI chr 3:91,044,332...91,121,686
Ensembl chr 3:97,725,136...97,799,932 		JBrowse link
G BICC1 BicC family RNA binding protein 1 ISO MouseDO NCBI chr10:55,044,812...55,366,668
Ensembl chr10:57,264,973...57,583,404 		JBrowse link
G CEP290 centrosomal protein 290 ISO MouseDO NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:25741868 NCBI chr 3:183,601,386...183,617,013
Ensembl chr 3:192,069,326...192,084,943 		JBrowse link
G DNM2 dynamin 2 ISO MouseDO NCBI chr19:10,272,172...10,386,032
Ensembl chr19:10,933,672...11,106,478 		JBrowse link
G EPHB4 EPH receptor B4 ISO MouseDO NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18604206 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		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 chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884 		JBrowse link
G IFT80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905 		JBrowse link
G INS insulin ISO CTD Direct Evidence: therapeutic CTD PMID:9879822 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666 		JBrowse link
G INVS inversin ISO RGD PMID:24586938 RGD:155794377 NCBI chr 9:71,185,345...71,395,015
Ensembl chr 9:99,329,528...99,508,260 		JBrowse link
G LAMA5 laminin subunit alpha 5 ISO MouseDO NCBI chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765 		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 chr17:28,033,001...28,048,157
Ensembl chr17:28,539,621...28,550,860 		JBrowse link
G NPHP3 nephrocystin 3 ISO DNA:missense mutation: :p.I614S (mouse) RGD PMID:18371931 RGD:11352488 NCBI chr 3:129,753,399...129,795,300 JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Renal cyst ClinVar NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		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 chr16:604,366...605,560 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 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO MouseDO NCBI chr 3:78,707,802...79,876,519
Ensembl chr 3:80,581,388...81,569,308 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO associated with Meckel Syndrome, Type 5;DNA:mutations:exons: RGD PMID:17558409 RGD:11073359 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835237 NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO MouseDO NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Cystic kidney disease ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO MouseDO NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Renal cyst ClinVar PMID:25741868 NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		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 (JR blood group) ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 9:69,818,669...69,886,618
Ensembl chr 9:97,941,935...98,005,795 		JBrowse link
G BICC1 BicC family RNA binding protein 1 ISO MouseDO NCBI chr10:55,044,812...55,366,668
Ensembl chr10:57,264,973...57,583,404 		JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25877301 NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600 		JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995 		JBrowse link
G C9 complement C9 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:1,035,826...1,055,005 JBrowse link
G CD14 CD14 molecule disease_progression ISO protein:altered localization:kidney,urine RGD PMID:20555320 RGD:7204130 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:decreased expression:kidney RGD PMID:17714589 RGD:2289666 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G CFB complement factor B disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr 6:31,606,716...31,612,782 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 chr11:12,131,306...12,177,906
Ensembl chr11:11,824,955...11,871,139 		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 chr 4:79,943,709...79,957,430
Ensembl chr 4:90,675,812...90,682,314 		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 chr 3:183,601,386...183,617,013
Ensembl chr 3:192,069,326...192,084,943 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391 		JBrowse link
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:79,903,923...79,909,836 JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695 		JBrowse link
G EDN1 endothelin 1 ISO mRNA, protein:increased expression:kidney (human) RGD PMID:12629276 RGD:4144854 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		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 4:81,015,773...81,400,333
Ensembl chr 4:91,739,953...92,067,415 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO protein: increased expression: kidney RGD PMID:16049073 RGD:7242198 NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766 		JBrowse link
G GANAB glucosidase II alpha subunit ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chr11:57,982,393...58,003,871
Ensembl chr11:61,336,487...61,357,908 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119 		JBrowse link
G GPRIN3 GPRIN family member 3 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:81,530,662...81,597,530
Ensembl chr 4:92,257,125...92,259,455 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:kidney: RGD PMID:12388382 RGD:7245969 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481 		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 4:80,882,236...80,998,111
Ensembl chr 4:91,617,672...91,720,136 		JBrowse link
G HERC5 HECT and RLD domain containing E3 ubiquitin protein ligase 5 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:80,747,400...80,795,722
Ensembl chr 4:91,470,572...91,518,177 		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 4:80,669,642...80,733,409
Ensembl chr 4:91,393,415...91,455,756 		JBrowse link
G HSD17B11 hydroxysteroid 17-beta dehydrogenase 11 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:79,638,500...79,687,204
Ensembl chr 4:90,364,769...90,413,522 		JBrowse link
G HSD17B13 hydroxysteroid 17-beta dehydrogenase 13 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:79,606,163...79,625,401
Ensembl chr 4:90,333,816...90,351,346 		JBrowse link
G IBSP integrin binding sialoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:80,061,960...80,105,560
Ensembl chr 4:90,817,072...90,830,021 		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 chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO protein:decreased expression:urine (human) RGD PMID:9090470 RGD:6909172 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839 		JBrowse link
G ITGA8 integrin subunit alpha 8 ISO mRNA:increased expression:kidney RGD PMID:18277079 RGD:7257723 NCBI chr10:15,838,320...16,045,206
Ensembl chr10:16,114,999...16,321,360 		JBrowse link
G KLHL8 kelch like family member 8 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:79,462,540...79,522,547
Ensembl chr 4:90,190,302...90,225,284 		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 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LOC100972297 nuclear pore complex-interacting protein family member B6 severity ISO DNA:missense mutation:cds:p.R3277C (mouse) RGD PMID:23064367 RGD:7175280 NCBI chr16:604,927...1,697,831 JBrowse link
G LOC100973017 PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:80,810,555...80,813,324
Ensembl chr 4:91,533,268...91,536,850 		JBrowse link
G LOC100977490 ras-related protein Rab-26 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:1,006,847...1,012,263 JBrowse link
G LOC103784916 PIGY upstream open reading frame ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:80,810,555...80,813,329
Ensembl chr 4:91,533,268...91,536,850 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO RGD PMID:11841627 RGD:1641842 NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697 		JBrowse link
G LRP5 LDL receptor related protein 5 susceptibility ISO DNA:missense mutation:cds:multiple mutations (human)
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease 		RGD
ClinVar		 PMID:25741868 PMID:25920554 PMID:28492532 RGD:11553546 NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		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 chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973 		JBrowse link
G MEPE matrix extracellular phosphoglycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:80,125,612...80,139,539
Ensembl chr 4:90,838,938...90,864,332 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828 		JBrowse link
G MMP1 matrix metallopeptidase 1 ISO protein:increased expression:serum (human) RGD PMID:10644865 RGD:7207194 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:plasma (human) RGD PMID:10644865 RGD:7207194 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23195001 RGD:7245504 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:kidney (mouse) 		CTD
MouseDO
RGD		 PMID:18356167 PMID:25877301 RGD:7207457 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		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 4:80,985,470...80,987,440 JBrowse link
G NPHP3 nephrocystin 3 ISO MouseDO NCBI chr 3:129,753,399...129,795,300 JBrowse link
G NUDT9 nudix hydrolase 9 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:79,718,294...79,755,238
Ensembl chr 4:90,444,772...90,480,786 		JBrowse link
G ONECUT2 one cut homeobox 2 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar NCBI chr18:50,826,110...50,882,127 JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:1,070,291...1,073,123 JBrowse link
G PITX2 paired like homeodomain 2 ISO mRNA:increased expression:kidney RGD PMID:20926632 RGD:5131995 NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 ClinVar PMID:8845849 PMID:9199561 PMID:9285784 PMID:9521593 PMID:10200984 More... NCBI chr16:604,366...605,560 JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel onset ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 		RGD
ClinVar		 PMID:8650545 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 More... RGD:7175273 NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775 		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 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:20210794 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060 		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 4:80,548,652...80,575,555
Ensembl chr 4:91,272,142...91,298,274 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO protein:increased expression, increased activity:kidney RGD PMID:16221708 RGD:1643017 NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653 		JBrowse link
G SERPING1 serpin family G member 1 disease_progression ISO protein:increased expression:urine RGD PMID:24494798 RGD:8661641 NCBI chr11:52,838,502...52,855,781
Ensembl chr11:56,309,686...56,326,639 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 disease_progression ISO mRNA, protein:altered expression:renal cortex (rat) RGD PMID:11004225 RGD:7242933 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		JBrowse link
G SNCA synuclein alpha ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600 		JBrowse link
G SPARCL1 SPARC like 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr 4:79,769,085...79,825,430
Ensembl chr 4:90,498,810...90,521,665 		JBrowse link
G SPP1 secreted phosphoprotein 1 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:17582161 PMID:22863349 PMID:25741868 PMID:28492532 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO protein:increased expression:kidney, epithelial cell RGD PMID:16399078 RGD:7243978 Ensembl chr12:32,068,679...32,085,099 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 4:81,400,473...81,403,842
Ensembl chr 4:92,122,501...92,127,090 		JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease ClinVar PMID:25741868 NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031 		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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		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 chr 3:182,667,557...182,848,528
Ensembl chr 3:191,142,063...191,320,221 		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		 PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... NCBI chr16:17,960,456...17,980,338
Ensembl chr16:20,430,085...20,449,121 		JBrowse link
autosomal recessive polycystic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO mRNA:increased expression:kidney (rat) RGD PMID:20229187 PMID:20798958 RGD:12879406 RGD:2325220 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G AQP1 aquaporin 1 (Colton blood group) ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression, altered location:bile duct, epithelial cell 		CTD
RGD		 PMID:18988797 RGD:2307071 NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141 		JBrowse link
G ARL3 ARF like GTPase 3 ISO OMIM:263200 MouseDO NCBI chr10:99,271,620...99,312,784
Ensembl chr10:102,735,325...102,775,849 		JBrowse link
G BICC1 BicC family RNA binding protein 1 ISO OMIM:263200 MouseDO NCBI chr10:55,044,812...55,366,668
Ensembl chr10:57,264,973...57,583,404 		JBrowse link
G C3 complement C3 ISO mRNA, protein:increased expression, increased activity:kidney RGD PMID:17960140 RGD:7175542 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699 		JBrowse link
G CD14 CD14 molecule severity ISO RGD PMID:20555320 RGD:7204130 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966 		JBrowse link
G CDC25A cell division cycle 25A treatment ISO protein:increased expression:cholangiocyte: RGD PMID:22155366 RGD:14700990 NCBI chr 3:48,068,601...48,099,806
Ensembl chr 3:49,154,307...49,186,115 		JBrowse link
G CFTR CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:bile duct epithelium 		CTD
RGD		 PMID:18988797 RGD:2307071 NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864 		JBrowse link
G CYP4A22 cytochrome P450 family 4 subfamily A member 22 ISO mRNA:increased expression:kidney RGD PMID:19129252 RGD:2303380 NCBI chr 1:46,442,854...46,455,153
Ensembl chr 1:47,958,368...47,970,230 		JBrowse link
G CYS1 cystin 1 ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:25741868 PMID:34521872 NCBI chr2A:10,053,361...10,078,264 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 chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like ISO CTD Direct Evidence: marker/mechanism
OMIM:263200 		CTD
MouseDO		 PMID:28530676 NCBI chr 3:135,089,250...135,143,117
Ensembl chr 3:142,541,624...142,582,817 		JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9486961 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G ELN elastin ISO RGD PMID:21478483 RGD:7207865
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119 		JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism
OMIM:263200 		CTD
MouseDO		 PMID:8191288 PMID:8608416 NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204 		JBrowse link
G LOC100972297 nuclear pore complex-interacting protein family member B6 ISO OMIM:263200 MouseDO NCBI chr16:604,927...1,697,831 JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO protein:increased serine phosphorylation:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (mouse) RGD PMID:3479800 RGD:7207453 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G NEK1 NIMA related kinase 1 ISO OMIM:263200 MouseDO NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100 		JBrowse link
G NEK8 NIMA related kinase 8 ISO OMIM:263200 MouseDO NCBI chr17:28,033,001...28,048,157
Ensembl chr17:28,539,621...28,550,860 		JBrowse link
G NPHP3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12089381 NCBI chr 3:129,753,399...129,795,300 JBrowse link
G PANX1 pannexin 1 ISO RGD PMID:31630543 RGD:14995937 NCBI chr11:89,142,686...89,295,972
Ensembl chr11:92,628,760...92,685,109 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO protein:increased expression:cholangiocyte RGD PMID:24498161 RGD:10040950 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease ClinVar PMID:25741868 PMID:26467025 PMID:29100090 PMID:32775833 PMID:33639313 NCBI chr16:604,366...605,560 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 chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin susceptibility
severity 		ISO DNA:splice site mutation:intron:IVS35-2A>T
ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I
DNA:missense mutations, nonsense mutations: :multiple
DNA:missense mutations:cds: 		RGD
ClinVar		 PMID:1189128 PMID:3239877 PMID:9536098 PMID:11898128 PMID:11919560 More... RGD:11062506 RGD:70439 NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 ISO OMIM:263200 MouseDO NCBI chr 4:121,044,298...121,250,386
Ensembl chr 4:132,333,598...132,551,619 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression, altered localization:cholangiocyte, basolateral plasma membrane 		CTD
RGD		 PMID:18988797 RGD:2307071 NCBI chr 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18385429 NCBI chr20:33,667,614...33,727,126
Ensembl chr20:34,822,271...34,839,634 		JBrowse link
G TMEM67 transmembrane protein 67 ISO RGD PMID:11095650 PMID:15052665 PMID:30705305 RGD:1300514 RGD:14995942 RGD:15014788 NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		JBrowse link
G TSC1 TSC complex subunit 1 ISO OMIM:263200 MouseDO NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition OMIM
ClinVar		 PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 6:82,621,987...82,654,137
Ensembl chr 6:85,862,810...85,938,799 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419 		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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G AGTR1 angiotensin II receptor type 1 ISO ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to ClinVar PMID:25741868 PMID:35005812 NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380 		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 chr10:55,044,812...55,366,668
Ensembl chr10:57,264,973...57,583,404 		JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: ALG9-associated autosomal dominant polycystic kidney disease | ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome OMIM
ClinVar		 PMID:15945070 PMID:16199547 PMID:25741868 PMID:25966638 PMID:26467025 More... NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179 		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 9:108,067,633...108,089,742
Ensembl chr 9:137,036,696...137,057,776 		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 9:107,749,195...107,763,033
Ensembl chr 9:136,722,914...136,737,286 		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 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232 		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 9:107,898,222...107,908,125 JBrowse link
G AKAP1 A-kinase anchoring protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,162,993...51,199,202
Ensembl chr17:56,023,381...56,058,744 		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 chr17:31,455,386...31,482,985
Ensembl chr17:36,599,835...36,628,102 		JBrowse link
G ALKBH5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,725,632...32,753,021
Ensembl chr17:38,003,362...38,030,715 		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 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652 		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 chr17:54,528,229...54,611,458
Ensembl chr17:59,655,186...59,737,779 		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 chr 3:91,044,332...91,121,686
Ensembl chr 3:97,725,136...97,799,932 		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 chr2B:118,454,310...118,644,303
Ensembl chr2B:237,243,120...237,412,620 		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 9:108,711,276...108,720,942
Ensembl chr 9:137,664,787...137,668,688 		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 chr12:121,297,959...121,343,294
Ensembl chr12:125,522,886...125,569,858 		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 chr17:33,256,239...33,280,360
Ensembl chr17:38,203,888...38,224,911 		JBrowse link
G ATXN3L ataxin 3 like 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:5,926,746...5,928,272
Ensembl chr  X:13,215,418...13,216,485 		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 chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391 		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 chr19:38,347,505...38,357,319
Ensembl chr19:46,853,954...46,864,014 		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 chr17:54,776,768...55,494,917
Ensembl chr17:59,901,453...60,613,732 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,786,568...55,973,366
Ensembl chr17:60,901,073...61,083,462 		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 chr 4:10,154,453...10,183,448
Ensembl chr 4:15,451,958...15,480,195 		JBrowse link
G C10H12orf50 chromosome 10 C12orf50 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16682973 PMID:16909394 PMID:19764032 PMID:23954617 PMID:27821535 More... NCBI chr12:85,521,276...85,571,715
Ensembl chr12:88,827,774...88,877,008 		JBrowse link
G C19H17orf67 chromosome 19 C17orf67 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:50,869,206...50,912,963 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 chr11:69,085,434...69,244,791 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 9:108,003,376...108,005,648
Ensembl chr 9:136,974,556...136,976,152 		JBrowse link
G CA4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:54,236,114...54,258,638 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 9:108,989,621...109,256,841 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 9:106,881,023...106,979,501
Ensembl chr 9:135,866,980...135,944,911 		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 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:33131181 NCBI chr22:19,571,658...19,588,872
Ensembl chr22:37,389,948...37,406,879 		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 chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281 		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 9:107,853,783...107,865,565
Ensembl chr 9:136,824,266...136,835,166 		JBrowse link
G CD38 CD38 molecule ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,228,803...10,295,129
Ensembl chr 4:15,525,835...15,587,677 		JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr 1:2,485,711...2,529,745
Ensembl chr 1:3,606,659...3,648,832 		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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		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 7:122,360,248...122,406,260
Ensembl chr 7:134,880,086...134,924,657 		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 chr17:54,506,270...54,516,481
Ensembl chr17:59,634,708...59,643,632 		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 9:108,303,199...108,310,953
Ensembl chr 9:137,271,636...137,275,827 		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 9:108,054,934...108,057,100
Ensembl chr 9:137,023,505...137,025,361 		JBrowse link
G CLTC clathrin heavy chain ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,685,865...53,761,008
Ensembl chr17:58,529,750...58,603,636 		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 chr16:2,423,563...2,461,486
Ensembl chr16:3,600,370...3,637,622 		JBrowse link
G COIL coilin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,015,403...51,038,276
Ensembl chr17:55,877,098...55,898,827 		JBrowse link
G COPS3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,013,180...34,047,546
Ensembl chr17:38,944,618...38,978,235 		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 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807 		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 chr11:56,702,510...56,729,316
Ensembl chr11:60,065,832...60,092,720 		JBrowse link
G CUEDC1 CUE domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,941,043...52,034,948
Ensembl chr17:56,798,556...56,822,922 		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 9:108,284,155...108,285,850
Ensembl chr 9:137,252,943...137,254,611 		JBrowse link
G DGKE diacylglycerol kinase epsilon ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:50,912,079...50,946,655
Ensembl chr17:55,773,896...55,802,485 		JBrowse link
G DHX40 DEAH-box helicase 40 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,631,673...53,674,374
Ensembl chr17:58,475,390...58,518,415 		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 9:107,786,349...107,798,873
Ensembl chr 9:136,760,243...136,769,833 		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 9:107,432,709...107,436,360 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 9:108,635,082...108,680,315
Ensembl chr 9:137,597,639...137,627,279 		JBrowse link
G DPP7 dipeptidyl peptidase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,170,361...108,189,498 JBrowse link
G DRC3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,278,528...33,324,351
Ensembl chr17:38,226,305...38,272,013 		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 chr17:52,161,701...52,169,538
Ensembl chr17:57,021,357...57,025,750 		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 9:107,919,200...107,923,415
Ensembl chr 9:136,889,383...136,891,133 		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:6,177,141...6,240,969
Ensembl chr  X:13,465,605...13,529,474 		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 9:107,735,192...107,748,729
Ensembl chr 9:136,708,783...136,722,448 		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 9:108,724,568...108,951,077
Ensembl chr 9:137,764,950...137,895,564 		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 chr12:121,206,380...121,218,749
Ensembl chr12:125,433,227...125,446,665 		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 9:108,108,780...108,114,806
Ensembl chr 9:137,077,207...137,083,031 		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 9:108,503,511...108,511,822
Ensembl chr 9:137,468,154...137,472,092 		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 9:107,474,676...107,483,625
Ensembl chr 9:136,454,597...136,463,414 		JBrowse link
G EPN2 epsin 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:31,777,430...31,874,469
Ensembl chr17:36,942,381...37,038,509 		JBrowse link
G EPX eosinophil peroxidase ISO ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:28492532 NCBI chr17:52,269,114...52,281,471
Ensembl chr17:57,124,924...57,136,992 		JBrowse link
G EXD3 exonuclease 3'-5' domain 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 9:108,366,206...108,490,346
Ensembl chr 9:137,336,229...137,427,312 		JBrowse link
G EXOC8 exocyst complex component 8 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:22700954 NCBI chr 1:206,884,334...206,889,753
Ensembl chr 1:211,911,802...211,913,979 		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 chr10:69,714,749...69,789,835
Ensembl chr10:72,175,085...72,249,611 		JBrowse link
G FAM200B family with sequence similarity 200 member B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,133,786...10,142,585
Ensembl chr 4:15,435,995...15,437,968 		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 chr17:32,237,065...32,273,015
Ensembl chr17:37,169,509...37,204,872 		JBrowse link
G FAM9C family with sequence similarity 9 member C 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:5,647,848...5,657,551
Ensembl chr  X:12,936,617...12,945,919 		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 chr 4:10,050,909...10,107,573
Ensembl chr 4:15,348,977...15,430,631 		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
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 9:107,998,949...108,003,247
Ensembl chr 9:136,969,957...136,973,945 		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 chr 4:10,374,303...10,377,210
Ensembl chr 4:15,671,516...15,672,220 		JBrowse link
G FGFBP2 fibroblast growth factor binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,397,233...10,400,420
Ensembl chr 4:15,696,356...15,697,027 		JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160 		JBrowse link
G FLII FLII actin remodeling protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,789,717...32,803,661
Ensembl chr17:37,949,994...37,965,414 		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 chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231 		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 9:108,090,793...108,093,513
Ensembl chr 9:137,058,831...137,061,607 		JBrowse link
G GDPD1 glycerophosphodiester phosphodiesterase domain containing 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,290,496...53,345,584
Ensembl chr17:58,138,432...58,191,986 		JBrowse link
G GID4 GID complex subunit 4 homolog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,226,374...33,256,146 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 9:106,714,367...106,717,245
Ensembl chr 9:135,705,743...135,708,268 		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 9:107,400,819...107,432,165
Ensembl chr 9:136,383,929...136,410,561 		JBrowse link
G GRAP GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,215,214...32,219,802 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 9:108,198,350...108,228,887
Ensembl chr 9:137,168,722...137,197,382 		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 chr12:121,218,813...121,246,807
Ensembl chr12:125,445,381...125,473,763 		JBrowse link
G HEATR6 HEAT repeat containing 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:54,128,106...54,163,931
Ensembl chr17:59,262,926...59,299,599 		JBrowse link
G HSF5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,495,458...52,563,332
Ensembl chr17:57,352,414...57,416,968 		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 chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 		OMIM
ClinVar		 PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 More... NCBI chr 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731 		JBrowse link
G IRX3 iroquois homeobox 3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:34,514,107...34,517,576
Ensembl chr16:53,622,409...53,624,653 		JBrowse link
G IRX5 iroquois homeobox 5 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:35,164,884...35,168,189
Ensembl chr16:54,272,412...54,275,124 		JBrowse link
G IRX6 iroquois homeobox 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:35,556,558...35,563,568
Ensembl chr16:54,662,732...54,669,745 		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 Ensembl chr16:27,918,816...28,148,543 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 9:106,773,184...106,867,490
Ensembl chr 9:135,763,956...135,852,482 		JBrowse link
G KIAA0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr14:39,019,518...39,139,460
Ensembl chr14:57,288,938...57,405,726 		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 chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		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 chr12:86,036,501...86,124,274
Ensembl chr12:89,341,921...89,436,758 		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 9:106,662,265...106,667,575
Ensembl chr 9:135,654,722...135,659,869 		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 9:108,008,222...108,014,028
Ensembl chr 9:136,981,665...136,984,643 		JBrowse link
G LCN15 lipocalin 15 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:107,818,230...107,828,652
Ensembl chr 9:136,788,329...136,794,304 		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 9:107,811,520...107,817,297
Ensembl chr 9:136,783,245...136,787,178 		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...
G LCNL1 lipocalin like 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:108,043,835...108,045,585
Ensembl chr 9:137,012,430...137,013,864 		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 9:107,271,131...107,280,001
Ensembl chr 9:136,252,880...136,260,366 		JBrowse link
G LINC02875 long intergenic non-protein coding RNA 2875 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,513,679...55,515,363 JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 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 9:108,093,280...108,097,369 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 chr17:32,770,511...32,789,756
Ensembl chr17:37,966,100...37,985,103 		JBrowse link
G LOC100971960 unconventional myosin-XV ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,661,499...32,723,320 JBrowse link
G LOC100974743 lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr11:56,648,322...56,661,758
Ensembl chr11:60,013,043...60,026,207 		JBrowse link
G LOC100976912 uncharacterized protein C9orf163 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 9:107,561,734...107,562,397 JBrowse link
G LOC100988353 septin-4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,595,185...52,607,020
Ensembl chr17:57,448,904...57,472,690 		JBrowse link
G LOC100994060 developmentally-regulated GTP-binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,187,571...33,206,833 JBrowse link
G LOC100994150 olfactory receptor 4D1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,231,293...52,232,510 JBrowse link
G LOC100995879 olfactory receptor 4D2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,245,813...52,246,736 JBrowse link
G LPO lactoperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,315,674...52,344,007
Ensembl chr17:57,171,310...57,199,735 		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 9:108,228,889...108,230,178
Ensembl chr 9:137,198,298...137,199,602 		JBrowse link
G LRRC34 leucine rich repeat containing 34 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 3:166,807,315...166,826,740
Ensembl chr 3:174,860,946...174,880,319 		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 9:107,908,156...107,917,883
Ensembl chr 9:136,878,324...136,888,065 		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 9:108,148,020...108,168,931
Ensembl chr 9:137,118,361...137,139,066 		JBrowse link
G MAPK7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:31,729,429...31,736,216
Ensembl chr17:36,894,146...36,899,969 		JBrowse link
G MED9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,802,916...33,819,107
Ensembl chr17:38,749,397...38,765,618 		JBrowse link
G MFAP4 microfibril associated protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:31,725,732...31,729,528
Ensembl chr17:36,890,778...36,893,230 		JBrowse link
G MICALL2 MICAL like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr 7:1,676,677...1,708,475
Ensembl chr 7:1,801,760...1,827,258 		JBrowse link
G MIEF2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,805,453...32,810,668
Ensembl chr17:37,944,215...37,949,451 		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 chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:17558409 PMID:28492532 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MPO myeloperoxidase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111 		JBrowse link
G MPRIP myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,101,451...34,251,475
Ensembl chr17:39,040,719...39,182,578 		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 9:108,631,543...108,632,733 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 9:106,640,673...106,645,374
Ensembl chr 9:135,633,900...135,637,926 		JBrowse link
G MRPS23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,917,574...51,929,577
Ensembl chr17:56,775,846...56,787,058 		JBrowse link
G MSI2 musashi RNA binding protein 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,335,550...51,763,572
Ensembl chr17:56,194,360...56,613,698 		JBrowse link
G MTMR4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,564,455...52,592,899
Ensembl chr17:57,418,229...57,446,545 		JBrowse link
G NACA2 nascent polypeptide associated complex subunit alpha 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,691,986...55,692,801
Ensembl chr17:60,810,599...60,811,246 		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 9:107,079,113...107,168,332
Ensembl chr 9:136,066,229...136,105,176 		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 9:108,265,305...108,278,923
Ensembl chr 9:137,233,940...137,247,716 		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 9:108,314,535...108,333,050
Ensembl chr 9:137,278,964...137,301,751 		JBrowse link
G NOG noggin ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		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 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		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 9:108,490,455...108,503,555
Ensembl chr 9:137,455,874...137,468,196 		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 9:108,100,164...108,107,324
Ensembl chr 9:137,068,846...137,072,257 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar PMID:24746959 PMID:25741868 PMID:28492532 NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205 		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 9:108,358,959...108,361,586 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 9:108,518,698...108,531,316
Ensembl chr 9:137,482,420...137,495,990 		JBrowse link
G NT5M 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,948,270...33,991,485 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:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512 		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 9:106,669,550...106,681,918 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 9:108,052,793...108,055,298
Ensembl chr 9:137,021,230...137,022,805 		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 8:90,541,269...90,550,554
Ensembl chr 8:92,486,271...92,494,714 		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 chr16:54,868,840...54,919,077 JBrowse link
G PEMT phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,703,800...33,790,470
Ensembl chr17:38,651,024...38,737,202 		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 9:107,906,160...107,908,130 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 chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473 		JBrowse link
G PLD6 phospholipase D family member 6 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,084,634...34,091,470
Ensembl chr17:39,016,859...39,023,398 		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 9:107,483,608...107,499,176
Ensembl chr 9:136,464,070...136,477,569 		JBrowse link
G PNPLA7 patatin like domain 7, lysophospholipase 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 9:108,531,917...108,631,119
Ensembl chr 9:137,496,924...137,593,154 		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 chr17:54,698,338...54,761,889
Ensembl chr17:59,824,566...59,887,015 		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 chr17:52,832,291...53,057,157
Ensembl chr17:57,874,629...57,903,205 		JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454 		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 chr17:32,316,289...32,392,531
Ensembl chr17:37,247,504...37,320,704 		JBrowse link
G PRR11 proline rich 11 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,227,110...53,275,377
Ensembl chr17:58,076,210...58,122,353 		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 9:108,037,994...108,042,136
Ensembl chr 9:137,006,601...137,009,680 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,763,222...53,773,191
Ensembl chr17:58,605,850...58,615,809 		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 9:107,281,207...107,320,420
Ensembl chr 9:136,261,578...136,282,774 		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:6,296,483...6,317,826
Ensembl chr  X:13,604,454...13,605,059 		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 9:107,865,764...107,898,073
Ensembl chr 9:136,849,527...136,868,545 		JBrowse link
G RAD51C RAD51 paralog C ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,769,446...52,808,467
Ensembl chr17:57,621,552...57,660,701 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861 		JBrowse link
G RASD1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:33,799,204...33,801,652
Ensembl chr17:38,744,157...38,748,134 		JBrowse link
G RCOR1 REST corepressor 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:26489029 NCBI chr14:83,209,992...83,346,783 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 chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291 		JBrowse link
G RNF112 ring finger protein 112 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:31,688,381...31,701,675
Ensembl chr17:36,860,202...36,894,877 		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 9:108,279,801...108,281,695
Ensembl chr 9:137,248,765...137,249,550 		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 9:108,287,236...108,289,186
Ensembl chr 9:137,255,866...137,257,947 		JBrowse link
G RNF43 ring finger protein 43 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748 		JBrowse link
G RNFT1 ring finger protein, transmembrane 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:54,016,689...54,029,100
Ensembl chr17:58,858,416...58,869,908 		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 chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		JBrowse link
G RPS6KB1 ribosomal protein S6 kinase B1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,958,807...54,014,752
Ensembl chr17:58,799,069...58,853,653 		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 9:108,122,658...108,132,397 JBrowse link
G SCPEP1 serine carboxypeptidase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:51,055,293...51,084,032
Ensembl chr17:55,915,746...55,944,377 		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 chr11:56,729,314...56,746,075
Ensembl chr11:60,093,656...60,110,288 		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 9:107,516,556...107,560,930
Ensembl chr 9:136,493,957...136,533,655 		JBrowse link
G SHMT1 serine hydroxymethyltransferase 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,870,949...32,905,690
Ensembl chr17:37,849,206...37,884,220 		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 chr17:53,181,345...53,226,761
Ensembl chr17:58,030,137...58,076,113 		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 9:108,290,905...108,296,186
Ensembl chr 9:137,259,243...137,264,947 		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 chr17:31,532,821...31,577,523
Ensembl chr17:36,695,965...36,741,618 		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 chr17:32,219,877...32,289,598
Ensembl chr17:37,152,047...37,221,554 		JBrowse link
G SMCR8 SMCR8-C9orf72 complex subunit ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,858,205...32,871,132
Ensembl chr17:37,884,037...37,896,972 		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 chr17:53,279,808...53,285,377
Ensembl chr17:58,127,969...58,133,370 		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 9:107,448,180...107,473,022
Ensembl chr 9:136,428,732...136,450,653 		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 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228 		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 chr17:33,458,196...33,484,643
Ensembl chr17:38,405,794...38,432,045 		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 chr17:52,083,676...52,087,454
Ensembl chr17:56,937,295...56,944,425 		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 9:108,248,263...108,250,002
Ensembl chr 9:137,217,653...137,219,406 		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 9:108,310,511...108,314,233
Ensembl chr 9:137,278,844...137,282,670 		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 chr17:52,420,503...52,427,514 JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr 4:10,589,166...10,654,951
Ensembl chr 4:15,886,080...15,938,594 		JBrowse link
G TBX2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,501,932...55,511,537
Ensembl chr17:60,622,098...60,630,189 		JBrowse link
G TBX4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:55,554,549...55,587,253
Ensembl chr17:60,677,518...60,705,413 		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:6,260,394...6,272,125
Ensembl chr  X:13,558,284...13,559,339 		JBrowse link
G TCTN1 tectonic family member 1 ISO ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome 		ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 More... NCBI chr12:108,182,496...108,232,202
Ensembl chr12:111,577,755...111,610,754 		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 chr12:121,256,675...121,293,997
Ensembl chr12:125,482,294...125,518,903 		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 chr17:52,627,335...52,768,926
Ensembl chr17:57,480,369...57,621,055 		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 chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		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:5,479,247...5,504,810
Ensembl chr  X:12,767,981...12,790,517 		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:5,518,742...5,535,304 JBrowse link
G TMEM138 transmembrane protein 138 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 NCBI chr11:56,661,892...56,677,503
Ensembl chr11:60,025,927...60,033,090 		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 9:107,849,421...107,851,438 JBrowse link
G TMEM17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar NCBI chr2A:62,580,872...62,587,936
Ensembl chr2A:63,710,004...63,716,422 		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 9:108,252,170...108,265,276
Ensembl chr 9:137,233,273...137,233,683 		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 9:108,231,003...108,232,819
Ensembl chr 9:137,200,480...137,201,612 		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 chr11:56,691,461...56,698,723
Ensembl chr11:60,055,400...60,062,051 		JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:33791682 NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682 		JBrowse link
G TMEM231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:56,107,360...56,126,172
Ensembl chr16:75,455,303...75,473,874 		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 chr2B:88,873,362...88,896,689
Ensembl chr2B:207,028,061...207,051,206 		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 9:107,187,362...107,191,642
Ensembl chr 9:136,170,880...136,171,292 		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 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		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:5,587,242...5,589,417 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 chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		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 chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042 		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 chr17:33,324,590...33,451,688
Ensembl chr17:38,272,362...38,399,178 		JBrowse link
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:32,814,448...32,858,076
Ensembl chr17:37,897,037...37,936,135 		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 9:108,337,814...108,342,723
Ensembl chr 9:137,307,626...137,310,283 		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 9:108,251,235...108,261,541 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 9:107,938,935...107,984,797
Ensembl chr 9:136,917,358...136,955,331 		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:6,321,264...6,341,650
Ensembl chr  X:13,609,852...13,629,916 		JBrowse link
G TRIM25 tripartite motif containing 25 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:50,965,592...50,991,630
Ensembl chr17:55,826,458...55,852,422 		JBrowse link
G TRIM37 tripartite motif containing 37 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,070,235...53,178,209
Ensembl chr17:57,904,813...58,027,100 		JBrowse link
G TSPOAP1 TSPO associated protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,376,707...52,404,160
Ensembl chr17:57,232,244...57,259,669 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		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 9:108,300,868...108,303,321
Ensembl chr 9:137,268,942...137,271,758 		JBrowse link
G TUBD1 tubulin delta 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,925,234...53,958,706
Ensembl chr17:58,766,864...58,798,842 		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
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 9:108,138,569...108,145,644
Ensembl chr 9:137,108,764...137,115,793 		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 9:107,004,643...107,033,286
Ensembl chr 9:135,988,020...136,016,046 		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 chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
G USP32 ubiquitin specific peptidase 32 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:54,263,343...54,477,162 JBrowse link
G VEZF1 vascular endothelial zinc finger 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:52,051,766...52,068,415
Ensembl chr17:56,908,627...56,923,740 		JBrowse link
G VMP1 vacuole membrane protein 1 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,773,215...53,907,992
Ensembl chr17:58,639,423...58,745,855 		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 chr2A:63,180,279...63,658,804
Ensembl chr2A:64,325,379...64,785,256 		JBrowse link
G YPEL2 yippee like 2 ISO ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar PMID:28492532 NCBI chr17:53,400,950...53,470,434
Ensembl chr17:58,246,304...58,316,099 		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 9:108,682,634...108,696,671
Ensembl chr 9:137,630,101...137,642,871 		JBrowse link
Joubert Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... NCBI chr11:56,691,461...56,698,723
Ensembl chr11:60,055,400...60,062,051 		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 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232 		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 chr2A:91,608,799...91,643,096
Ensembl chr2A:111,584,239...111,618,382 		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 OMIM
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205 		JBrowse link
G NPHP4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864 		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 chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Joubert syndrome 7 ClinVar NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Joubert syndrome 7 OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 More... NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		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 chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521 		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 chr 8:7,442,921...7,526,731 JBrowse link
G HNF1B HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome OMIM
ClinVar		 PMID:2624270 PMID:2976441 PMID:7151342 PMID:9398836 PMID:9536098 More... NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863 		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 1:6,722,260...6,745,915
Ensembl chr 1:7,969,280...7,993,271 		JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:27657687 NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028 		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 7:143,143,556...143,463,492
Ensembl chr 7:155,293,748...155,610,078 		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 chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391 		JBrowse link
G B9D2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:28492532 NCBI chr19:38,347,505...38,357,319
Ensembl chr19:46,853,954...46,864,014 		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 chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281 		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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		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 8:63,607,217...63,739,464
Ensembl chr 8:65,268,837...65,401,069 		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 chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231 		JBrowse link
G HOXB6 homeobox B6 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 NCBI chr17:8,931,773...8,941,024
Ensembl chr17:9,116,886...9,126,150 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 		OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:129,753,399...129,795,300 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 chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291 		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 chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		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 chr12:108,182,496...108,232,202
Ensembl chr12:111,577,755...111,610,754 		JBrowse link
G TMEM107 transmembrane protein 107 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr17:43,481,043...43,485,189
Ensembl chr17:48,214,392...48,217,773 		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 chr16:56,107,360...56,126,172
Ensembl chr16:75,455,303...75,473,874 		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 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		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 chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323 		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 chr17:43,481,043...43,485,189
Ensembl chr17:48,214,392...48,217,773 		JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM216 transmembrane protein 216 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... NCBI chr11:56,691,461...56,698,723
Ensembl chr11:60,055,400...60,062,051 		JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		JBrowse link
Meckel syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 More... NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		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 chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291 		JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682 		JBrowse link
Meckel syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Meckel syndrome, type 5 OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:17558407 PMID:17558409 PMID:17576681 More... NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		JBrowse link
Meckel syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: CC2D2A-related disorder | ClinVar Annotator: match by term: Meckel syndrome, type 6 OMIM
ClinVar		 PMID:3196484 PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 More... NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281 		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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		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 chr12:121,256,675...121,293,997
Ensembl chr12:125,482,294...125,518,903 		JBrowse link
Meckel syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 3:129,753,399...129,795,300 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 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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 chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604 		JBrowse link
G PDGFA platelet derived growth factor subunit A ISO mRNA, protein:increased expression:kidney RGD PMID:9200407 RGD:2298582 NCBI chr 7:648,722...672,023 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 chr16:604,366...605,560 JBrowse link
G SCAF4 SR-related CTD associated factor 4 ISO ClinVar Annotator: match by term: Multicystic dysplastic kidney ClinVar NCBI chr21:18,039,507...18,101,700
Ensembl chr21:31,421,160...31,482,543 		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 3:129,631,105...129,732,894
Ensembl chr 3:137,107,834...137,209,550 		JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 3:129,670,181...129,675,026
Ensembl chr 3:137,150,087...137,151,139 		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 3:64,415,621...64,590,984
Ensembl chr 3:65,792,223...65,967,631 		JBrowse link
G AHI1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25741868 PMID:26092869 More... NCBI chr 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232 		JBrowse link
G AJAP1 adherens junctions associated protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 1:3,340,904...3,482,242
Ensembl chr 1:4,505,143...4,590,779 		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 9:70,306,294...70,311,897
Ensembl chr 9:98,424,958...98,430,698 		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 9:69,818,669...69,886,618
Ensembl chr 9:97,941,935...98,005,795 		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 9:69,075,972...69,108,178
Ensembl chr 9:97,207,823...97,228,542 		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 3:130,470,362...130,543,610
Ensembl chr 3:137,946,969...138,016,584 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281 		JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516 		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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		JBrowse link
G CEP83 centrosomal protein 83 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:23530209 PMID:24882706 PMID:28492532 NCBI chr12:91,829,333...92,008,890
Ensembl chr12:95,247,299...95,403,175 		JBrowse link
G CNTRL centriolin ISO MouseDO NCBI chr 9:92,202,477...92,306,157
Ensembl chr 9:120,548,055...120,650,375 		JBrowse link
G COL15A1 collagen type XV alpha 1 chain ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:70,033,818...70,160,659
Ensembl chr 9:98,153,379...98,278,663 		JBrowse link
G CORO2A coronin 2A ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:69,210,625...69,282,434
Ensembl chr 9:97,335,026...97,368,204 		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 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807 		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 chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:28492532 NCBI chr 3:129,492,658...129,612,040
Ensembl chr 3:136,970,007...137,088,775 		JBrowse link
G ERP44 endoplasmic reticulum protein 44 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:71,062,078...71,185,195
Ensembl chr 9:99,182,352...99,301,938 		JBrowse link
G EVC EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 Ensembl chr 4:5,789,316...5,894,265 JBrowse link
G FAM186B family with sequence similarity 186 member B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr12:39,146,430...39,169,472
Ensembl chr12:40,037,593...40,058,640 		JBrowse link
G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:68,943,747...68,947,226 JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231 		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 9:69,377,091...69,799,867
Ensembl chr 9:97,500,904...97,790,605 		JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:69,897,793...69,940,252
Ensembl chr 9:98,017,161...98,058,135 		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 chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231 		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 chr16:3,234,549...3,257,994
Ensembl chr16:4,418,524...4,425,631 		JBrowse link
G GOLGB1 golgin B1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:15723066 PMID:20881296 PMID:28492532 NCBI chr 3:118,765,467...118,852,005
Ensembl chr 3:125,673,966...125,760,584 		JBrowse link
G HEMGN hemogen ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:69,016,921...69,078,632
Ensembl chr 9:97,137,560...97,158,420 		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 chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884 		JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406 		JBrowse link
G INCENP inner centromere protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr11:57,488,790...57,519,552
Ensembl chr11:60,846,199...60,874,540 		JBrowse link
G INTU inturned planar cell polarity protein ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:27158779 PMID:28492532 NCBI chr 4:119,793,245...119,890,949
Ensembl chr 4:131,109,733...131,186,590 		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 9:71,185,345...71,395,015
Ensembl chr 9:99,329,528...99,508,260 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 		ClinVar PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... NCBI chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr10:71,354,585...71,561,572
Ensembl chr10:74,035,496...74,223,975 		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 1:4,755,412...4,866,424
Ensembl chr 1:6,013,072...6,120,438 		JBrowse link
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		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 chr2A:91,608,799...91,643,096
Ensembl chr2A:111,584,239...111,618,382 		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 chr20:10,346,252...10,380,180
Ensembl chr20:10,351,309...10,366,863 		JBrowse link
G NANS N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:69,146,016...69,172,355
Ensembl chr 9:97,267,088...97,293,385 		JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:68,724,176...68,764,423
Ensembl chr 9:96,845,422...96,885,624 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar NCBI chr 5:73,306,527...73,491,367
Ensembl chr 5:78,585,649...78,698,184 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Nephronophthisis
ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 		ClinVar PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:9536098 PMID:10631142 PMID:12872122 PMID:16199547 PMID:17576681 More... NCBI chr 3:129,753,399...129,795,300 JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864 		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 9:70,907,056...70,950,221 JBrowse link
G PIAS1 protein inhibitor of activated STAT 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105 		JBrowse link
G RBM48 RNA binding motif protein 48 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:26489029 NCBI chr 7:84,526,533...84,535,772
Ensembl chr 7:98,122,495...98,130,886 		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 chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291 		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 6:149,222,867...149,268,725
Ensembl chr 6:153,919,641...153,965,134 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8 ClinVar PMID:3442652 PMID:18414213 PMID:19430481 PMID:20301500 PMID:25741868 More... NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014 		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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509 		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 chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590 		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 chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO MouseDO NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132 		JBrowse link
G SEC61B SEC61 translocon subunit beta ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:70,312,061...70,320,448
Ensembl chr 9:98,431,059...98,438,914 		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 chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180 		JBrowse link
G STX17 syntaxin 17 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:70,989,913...71,058,374
Ensembl chr 9:99,107,243...99,168,801 		JBrowse link
G TBC1D2 TBC1 domain family member 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:69,288,262...69,345,672
Ensembl chr 9:97,409,114...97,466,818 		JBrowse link
G TDRD7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:68,502,761...68,586,633
Ensembl chr 9:96,640,789...96,708,145 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748 		JBrowse link
G TMEM108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:18371931 PMID:23559409 PMID:28492532 NCBI chr 3:130,105,824...130,468,122
Ensembl chr 3:137,775,339...137,944,660 		JBrowse link
G TMEM67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:17160906 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 More... NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		JBrowse link
G TMOD1 tropomodulin 1 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:68,592,195...68,692,001
Ensembl chr 9:96,714,237...96,813,936 		JBrowse link
G TRIM14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:69,176,088...69,209,574
Ensembl chr 9:97,294,407...97,330,059 		JBrowse link
G TRMO tRNA methyltransferase O ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:68,994,715...69,013,456
Ensembl chr 9:97,115,398...97,133,361 		JBrowse link
G TSTD2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Nephronophthisis ClinVar PMID:12872123 PMID:28492532 NCBI chr 9:68,690,830...68,724,140
Ensembl chr 9:96,812,273...96,845,682 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		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 3:129,732,314...129,752,579
Ensembl chr 3:137,209,715...137,227,147 		JBrowse link
G WWTR1 WW domain containing transcription regulator 1 ISO MouseDO NCBI chr 3:146,536,564...146,678,847
Ensembl chr 3:154,114,034...154,254,490 		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 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254 		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 chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516 		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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		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 5:73,122,305...73,265,343
Ensembl chr 5:78,402,466...78,544,807 		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 chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231 		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 chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231 		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 chr16:3,234,549...3,257,994
Ensembl chr16:4,418,524...4,425,631 		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 chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884 		JBrowse link
G INTU inturned planar cell polarity protein ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:27158779 PMID:28492532 NCBI chr 4:119,793,245...119,890,949
Ensembl chr 4:131,109,733...131,186,590 		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 9:71,185,345...71,395,015
Ensembl chr 9:99,329,528...99,508,260 		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 chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242 		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 chr2A:91,608,799...91,643,096
Ensembl chr2A:111,584,239...111,618,382 		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 chr20:10,346,252...10,380,180
Ensembl chr20:10,351,309...10,366,863 		JBrowse link
G MTLN mitoregulin ISO ClinVar Annotator: match by term: Nephronophthisis 1 ClinVar PMID:10839884 PMID:10980528 PMID:25741868 NCBI chr2A:91,481,706...91,514,106
Ensembl chr2A:111,713,514...111,713,933 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis OMIM
ClinVar		 PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205 		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 3:129,753,399...129,795,300 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 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864 		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 6:149,222,867...149,268,725
Ensembl chr 6:153,919,641...153,965,134 		JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: juvenile nephronophthisis ClinVar PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532 NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174 		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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014 		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 chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509 		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 chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590 		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 chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013 		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 chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180 		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 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		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 OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 8:90,378,623...90,442,904
Ensembl chr 8:92,324,402...92,387,437 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22019273 PMID:23559409 More... NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		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 chr16:30,507,836...30,581,068
Ensembl chr16:49,410,143...49,462,278 		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 chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386 		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 chr16:30,288,552...30,300,444
Ensembl chr16:49,172,711...49,184,592 		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 chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629 		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 chr16:30,329,163...30,369,658
Ensembl chr16:49,212,645...49,251,043 		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 chr16:30,811,342...30,912,346 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 chr16:30,955,976...30,995,451
Ensembl chr16:49,837,891...49,873,773 		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 chr16:31,396,399...31,412,753
Ensembl chr16:50,274,090...50,284,819 		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 chr16:30,928,545...30,944,509
Ensembl chr16:49,809,077...49,818,459 		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 chr16:30,415,668...30,494,758
Ensembl chr16:49,299,498...49,373,665 		JBrowse link
G ZNF423 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 chr16:29,748,405...30,118,999
Ensembl chr16:48,639,118...48,969,727 		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 chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		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 chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382 		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 chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286 		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 chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460 		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 chr11:112,120,950...112,151,505
Ensembl chr11:116,054,303...116,084,812 		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 chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516 		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 chr11:112,263,509...112,632,332
Ensembl chr11:116,196,677...116,302,262 		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 chr11:112,654,774...112,666,630
Ensembl chr11:116,587,226...116,595,197 		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 chr11:112,671,570...112,712,085
Ensembl chr11:116,606,903...116,609,890 		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 chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771 		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 chr11:111,978,368...112,005,064
Ensembl chr11:115,911,803...115,944,351 		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 chr11:112,035,502...112,066,170
Ensembl chr11:115,972,414...115,999,748 		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 chr11:112,066,666...112,121,051
Ensembl chr11:116,002,034...116,054,282 		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 chr11:112,012,734...112,031,403
Ensembl chr11:115,946,725...115,963,408 		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 chr11:111,680,884...111,932,424
Ensembl chr11:115,613,478...115,730,158 		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 chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129 		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 chr11:112,735,048...112,763,561
Ensembl chr11:116,666,773...116,686,762 		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 9:69,818,669...69,886,618
Ensembl chr 9:97,941,935...98,005,795 		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 chr12:91,829,333...92,008,890
Ensembl chr12:95,247,299...95,403,175 		JBrowse link
G PLXNC1 plexin C1 ISO ClinVar Annotator: match by term: Nephronophthisis 18 ClinVar PMID:28492532 NCBI chr12:91,694,449...91,852,950
Ensembl chr12:95,093,332...95,251,249 		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 chr 6:24,001,971...24,186,530
Ensembl chr 6:24,337,188...24,520,082 		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 9:71,062,078...71,185,195
Ensembl chr 9:99,182,352...99,301,938 		JBrowse link
G INVS inversin ISO ClinVar Annotator: match by term: INVS-related condition | ClinVar Annotator: match by term: Infantile nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 2, infantile OMIM
ClinVar		 PMID:2702088 PMID:9536098 PMID:11935322 PMID:12872123 PMID:15852005 More... NCBI chr 9:71,185,345...71,395,015
Ensembl chr 9:99,329,528...99,508,260 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		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 chr15:20,713,859...20,768,224 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 ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 3:129,753,399...129,795,300 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 7:33,723,923...34,210,408
Ensembl chr 7:34,141,841...34,603,231 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: NPHP4-related condition | ClinVar Annotator: match by term: Nephronophthisis 4 OMIM
ClinVar		 PMID:1248184 PMID:9536098 PMID:11920287 PMID:12205563 PMID:12244321 More... NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864 		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 ClinVar Annotator: match by term: GLIS2-related condition | ClinVar Annotator: match by term: Nephronophthisis 7 OMIM
ClinVar		 PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 More... NCBI chr16:3,234,549...3,257,994
Ensembl chr16:4,418,524...4,425,631 		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 ClinVar Annotator: match by term: Nephronophthisis 9 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18199800 PMID:22106379 More... NCBI chr17:28,033,001...28,048,157
Ensembl chr17:28,539,621...28,550,860 		JBrowse link
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 chr22:22,106,953...22,138,122 JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604 		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 chr22:22,102,348...22,128,351
Ensembl chr22:40,193,492...40,218,925 		JBrowse link
G RANGAP1 Ran GTPase activating protein 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr22:22,142,644...22,199,268
Ensembl chr22:40,233,357...40,272,671 		JBrowse link
G RBX1 ring-box 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr22:21,845,351...21,866,627
Ensembl chr22:39,941,405...39,962,175 		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 chr22:21,752,015...21,827,146
Ensembl chr22:39,848,077...39,915,398 		JBrowse link
G ZC3H7B zinc finger CCCH-type containing 7B ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 ClinVar PMID:28492532 NCBI chr22:22,198,403...22,256,455
Ensembl chr22:40,286,098...40,343,159 		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 chr 1:181,398,145...181,422,830
Ensembl chr 1:185,681,822...185,705,844 		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 chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641 		JBrowse link
G AGT angiotensinogen ISO RGD PMID:20798958 RGD:12879406 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:31395617 NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO DNA:mutation:cds:p.R823W(rat) RGD PMID:7933831 PMID:16207829 PMID:21119215 RGD:11534987 RGD:1300446 RGD:7207426 NCBI chr 9:69,818,669...69,886,618
Ensembl chr 9:97,941,935...98,005,795 		JBrowse link
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 chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637 		JBrowse link
G APOA1 apolipoprotein A1 ISO RGD PMID:19637234 RGD:7241572 NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122 		JBrowse link
G ATF1 activating transcription factor 1 ISO mRNA:increased expression:kidney (rat) RGD PMID:19924104 RGD:2316104 NCBI chr12:37,930,383...37,988,476
Ensembl chr12:38,832,318...38,888,204 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:renal cortex RGD PMID:21270095 RGD:6483074 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein ISO protein:increased expression:serum RGD PMID:12376805 RGD:7207414 NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432 		JBrowse link
G C9 complement C9 treatment ISO RGD PMID:24494798 RGD:8661641 NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725 		JBrowse link
G CFB complement factor B treatment ISO RGD PMID:24494798 RGD:8661641 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:31922066 NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892 		JBrowse link
G CTSB cathepsin B ISO protein:increased expression:kidney proximal tubule RGD PMID:8840269 RGD:5686402 NCBI chr 8:7,333,498...7,359,264 JBrowse link
G CTSH cathepsin H ISO protein:increased expression:kidney proximal tubule RGD PMID:8840269 RGD:5686402 NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976 		JBrowse link
G DEUP1 deuterosome assembly protein 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar NCBI chr11:88,357,292...88,459,239
Ensembl chr11:91,846,096...91,946,993 		JBrowse link
G DHX34 DExH-box helicase 34 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:31256877 NCBI chr19:44,337,299...44,371,403
Ensembl chr19:52,996,392...53,026,046 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 treatment ISO RGD PMID:32685025 RGD:155791442 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		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 chr 3:183,601,386...183,617,013
Ensembl chr 3:192,069,326...192,084,943 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO RGD PMID:17322369 RGD:10395372 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560 		JBrowse link
G GANAB glucosidase II alpha subunit ISO DNA:mutations: : RGD PMID:27259053 RGD:11352639 NCBI chr11:57,982,393...58,003,871
Ensembl chr11:61,336,487...61,357,908 		JBrowse link
G GNAS GNAS complex locus ISO protein:increased expression:cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr20:55,190,607...55,262,245 JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 ISO mRNA,protein:increased expression: cholangiocyte RGD PMID:28543567 RGD:14700993 NCBI chr2B:105,520,364...105,523,229
Ensembl chr2B:224,120,127...224,121,119 		JBrowse link
G HDAC6 histone deacetylase 6 treatment ISO RGD PMID:24434010 RGD:9681551 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO RGD PMID:17322369 RGD:10395372 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885 		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 chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884 		JBrowse link
G INVS inversin severity ISO RGD PMID:16999740 RGD:155794378 NCBI chr 9:71,185,345...71,395,015
Ensembl chr 9:99,329,528...99,508,260 		JBrowse link
G KIF3A kinesin family member 3A ISO MouseDO NCBI chr 5:128,112,636...128,154,443
Ensembl chr 5:134,274,352...134,315,431 		JBrowse link
G LCN2 lipocalin 2 ISO mRNA:increased expression:kidney, epithelial cell RGD PMID:22258321 RGD:126790531 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G LOC100972297 nuclear pore complex-interacting protein family member B6 ISO RGD PMID:11913782 RGD:633540 NCBI chr16:604,927...1,697,831 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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 NCBI chr17:52,281,443...52,295,919
Ensembl chr17:57,137,254...57,151,328 		JBrowse link
G MMP12 matrix metallopeptidase 12 ISO RGD PMID:18606867 RGD:7241222 NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762 		JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:22160773 RGD:7245545 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:kidney (rat) RGD PMID:9422539 PMID:21119215 RGD:7207426 RGD:7207451 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:kidney: RGD PMID:12675853 RGD:11534000 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		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 3:129,753,399...129,795,300 JBrowse link
G NPPB natriuretic peptide B treatment ISO RGD PMID:28416225 RGD:14701038 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995 		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 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:1740684 PMID:2215575 PMID:7581371 PMID:8004675 PMID:8320707 More... NCBI chr16:604,366...605,560 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 PMID:9326320 PMID:9402976 PMID:9536098 PMID:9573526 PMID:9773786 More... NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic kidney disease, adult type ClinVar PMID:1189128 PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 More... NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		JBrowse link
G PLA2G4A phospholipase A2 group IVA ISO protein:increased expression:kidney RGD PMID:12490538 RGD:1642471 NCBI chr 1:162,362,600...162,521,974
Ensembl chr 1:166,512,870...166,672,101 		JBrowse link
G PLCE1 phospholipase C epsilon 1 ISO ClinVar Annotator: match by term: Polycystic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma treatment ISO RGD PMID:21147840 RGD:14701037 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060 		JBrowse link
G PRKCSH PRKCSH beta subunit of glucosidase II ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr19:10,981,398...10,997,062
Ensembl chr19:11,693,620...11,707,728 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:kidney RGD PMID:17537981 RGD:2300262 NCBI chr 9:93,495,365...93,517,557
Ensembl chr 9:121,837,095...121,859,283 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:kidney RGD PMID:17537981 RGD:2300262 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519 		JBrowse link
G PTMA prothymosin alpha ISO MouseDO NCBI chr2B:118,959,382...118,964,364 JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21685914 NCBI chr 6:105,673,265...105,757,422
Ensembl chr 6:109,538,184...109,595,518 		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 chr19:29,753,265...29,793,871
Ensembl chr19:38,499,106...38,538,750 		JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:decreased expression:kidney (rat) RGD PMID:23006058 RGD:8657020 NCBI chr21:18,029,831...18,037,526 JBrowse link
G STAT6 signal transducer and activator of transcription 6 ISO RGD PMID:22025716 RGD:7243974 Ensembl chr12:32,068,679...32,085,099 JBrowse link
G TNC tenascin C ISO protein:increased expression:kidney RGD PMID:15565633 RGD:4889614 NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299 		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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G TULP3 TUB like protein 3 ISO MouseDO NCBI chr12:3,012,890...3,061,831
Ensembl chr12:2,944,769...2,993,278 		JBrowse link
G XYLT2 xylosyltransferase 2 ISO MouseDO NCBI chr17:44,440,428...44,455,530
Ensembl chr17:49,315,250...49,331,654 		JBrowse link
polycystic kidney disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972297 nuclear pore complex-interacting protein family member B6 ISO OMIM:173900 MouseDO NCBI chr16:604,927...1,697,831 JBrowse link
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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:renal cortex (human)
mRNA:increased expression:kidney (mouse) 		RGD PMID:16449663 PMID:19346236 RGD:7207447 RGD:7207779 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO 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
ClinVar		 PMID:9199561 PMID:9668165 PMID:10364515 PMID:10854095 PMID:10923038 More... NCBI chr16:604,366...605,560 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 4:81,015,773...81,400,333
Ensembl chr 4:91,739,953...92,067,415 		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 chr16:604,366...605,560 JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: PKD2-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 2 OMIM
ClinVar		 PMID:1605247 PMID:8650545 PMID:9175744 PMID:9326320 PMID:9402976 More... NCBI chr 4:80,295,243...80,365,271
Ensembl chr 4:91,019,734...91,086,775 		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 chr11:57,982,393...58,003,871
Ensembl chr11:61,336,487...61,357,908 		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 chr11:58,004,058...58,010,526
Ensembl chr11:61,358,029...61,364,549 		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 chr16:604,366...605,560 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 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		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 chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		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 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
ClinVar		 PMID:1189128 PMID:9536098 PMID:11898128 PMID:11919560 PMID:12506140 More... NCBI chr 6:51,166,516...51,635,057
Ensembl chr 6:52,435,462...52,903,309 		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 chr10:107,512,795...107,606,627
Ensembl chr10:110,993,556...111,055,312 		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 3:135,089,250...135,143,117
Ensembl chr 3:142,541,624...142,582,817 		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 chr 3:183,601,386...183,617,013
Ensembl chr 3:192,069,326...192,084,943 		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 chr13:18,156,978...18,207,970
Ensembl chr13:36,587,531...36,637,238 		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 chr17:28,033,001...28,048,157
Ensembl chr17:28,539,621...28,550,860 		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 3:129,753,399...129,795,300 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 3:129,753,399...129,795,300 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 chr17:28,033,001...28,048,157
Ensembl chr17:28,539,621...28,550,860 		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 chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		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 chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242 		JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar Annotator: match by term: JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS | ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis 		ClinVar PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 More... NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205 		JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864 		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 chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132 		JBrowse link
G TMEM218 transmembrane protein 218 ISO OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682 		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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471 		JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome ClinVar PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 More... NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		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 chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205 		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 OMIM
ClinVar		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864 		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 OMIM
ClinVar		 PMID:9536098 PMID:15723066 PMID:16199547 PMID:17576681 PMID:18076122 More... NCBI chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242 		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 OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		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 chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291 		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 chr 1:220,020,480...220,063,658
Ensembl chr 1:225,401,544...225,444,984 		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 chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838 		JBrowse link
G CATSPERE catsper channel auxiliary subunit epsilon ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:220,072,548...220,233,904
Ensembl chr 1:225,454,034...225,613,797 		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 chr 1:218,726,142...218,856,585
Ensembl chr 1:224,107,145...224,238,813 		JBrowse link
G DESI2 desumoylating isopeptidase 2 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:220,246,390...220,302,577
Ensembl chr 1:225,626,913...225,682,772 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:220,450,218...220,461,412
Ensembl chr 1:225,817,899...225,842,031 		JBrowse link
G LOC100992118 cytochrome c oxidase assembly protein COX20, mitochondrial ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:220,432,447...220,440,416
Ensembl chr 1:225,812,621...225,820,925 		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 chr 1:217,640,005...218,081,158 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 chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132 		JBrowse link
G SPMIP3 sperm microtubule inner protein 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr 1:219,964,465...220,001,843
Ensembl chr 1:225,346,231...225,382,166 		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 chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259 		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 chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903 		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 chr2B:125,558,537...125,637,733
Ensembl chr2B:244,405,992...244,481,785 		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 OMIM
ClinVar		 PMID:25557779 PMID:25557780 PMID:25741868 PMID:26795916 PMID:26925547 More... NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15835
    disease of anatomical entity 15491
      Urogenital Diseases 4921
        urinary system disease 2408
          kidney disease 2169
            cystic kidney disease 510
              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 1 244
              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 + 116
              non-congenital cyst of kidney 0
              polycystic kidney disease + 146
              renal-hepatic-pancreatic dysplasia + 2
              ventriculomegaly - cystic kidney disease 1
paths to the root