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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormality of the kidney
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Accession:HP:0000077 term browser browse the term
Definition:An abnormality of the kidney.
Comment:The kidney is a paired organ whose primary function is the production of urine.
Synonyms:exact_synonym: Abnormal kidney;   Renal anomalies;   Renal anomaly
 narrow_synonym: kidney disease
 xref: EFO:0003086;   MESH:D007674;   SNOMEDCT_US:44513007;   SNOMEDCT_US:90708001;   UMLS:C0022658;   UMLS:C0266292



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Abnormality of the kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 IAGP HPO ORPHA:552 ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G ADAMTSL1 ADAMTS like 1 IAGP HPO ORPHA:521445 NCBI chr 9:17,906,633...18,910,950
Ensembl chr 9:17,906,563...18,910,950
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:201 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase IAGP HPO ORPHA:79327 NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:261584 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO ORPHA:552 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105
JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO OMIM:209900 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:847 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO OMIM:209900 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO OMIM:615982 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:552 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599
JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650
JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO OMIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
JBrowse link
G CEL carboxyl ester lipase IAGP HPO ORPHA:552 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861
JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Abnormality of the kidney ClinVar PMID:16199547 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17617513 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO ORPHA:79333 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
JBrowse link
G CORIN corin, serine peptidase IAGP HPO ORPHA:275555 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G CPLX1 complexin 1 IAGP HPO ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO ORPHA:857 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO OMIM:263750 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO ORPHA:459061 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898
JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP HPO ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EDNRB endothelin receptor type B IAGP HPO ORPHA:895 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO ORPHA:1764 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO ORPHA:289 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO ORPHA:289 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO ORPHA:466926 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:1860 ORPHA:93274 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP HPO ORPHA:275555 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170
JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO OMIM:118100 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO ORPHA:552 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO OMIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262
JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:75858 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
JBrowse link
G INS insulin IAGP HPO ORPHA:552 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221
JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193
JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:552 ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO ORPHA:2036 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G KITLG KIT ligand IAGP HPO ORPHA:895 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
JBrowse link
G KLF11 KLF transcription factor 11 IAGP HPO ORPHA:552 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836
JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO ORPHA:201 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 ORPHA:495818 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032
JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:2273 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G MITF melanocyte inducing transcription factor IAGP HPO ORPHA:895 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:391641 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYH9 myosin heavy chain 9 IAGP HPO OMIM:155100 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:93399 ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905
JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO ORPHA:552 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827
JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO OMIM:117550 ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PAX4 paired box 4 IAGP HPO ORPHA:552 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:201 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Abnormality of the kidney ClinVar PMID:25741868 PMID:26467025 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599
JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:201 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP DNA:snp:introns:c.87+1492C>T, c.828+186G>A (rs1217414, rs3765598) RGD PMID:23950893 RGD:11533999 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G PYGL glycogen phosphorylase L IAGP HPO ORPHA:369 NCBI chr14:50,905,217...50,944,483
Ensembl chr14:50,857,891...50,944,483
JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO ORPHA:1606 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
JBrowse link
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
JBrowse link
G SCAF4 SR-related CTD associated factor 4 IAGP ClinVar Annotator: match by term: Abnormality of the kidney ClinVar NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:201 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,032
JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:201 NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO ORPHA:201 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO ORPHA:201 NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO ORPHA:821 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261222 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO OMIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,415...50,733,212
JBrowse link
G SIX2 SIX homeobox 2 IAGP HPO ORPHA:488437 NCBI chr 2:45,005,182...45,009,452
Ensembl chr 2:45,005,182...45,009,452
JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
JBrowse link
G SNAI2 snail family transcriptional repressor 2 IAGP HPO ORPHA:895 NCBI chr 8:48,917,598...48,921,429
Ensembl chr 8:48,917,598...48,921,740
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177907 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:895 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:1772 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
JBrowse link
G STAT4 signal transducer and activator of transcription 4 onset IAGP DNA:SNP:intron:c.274-23582A>C (rs7574865) RGD PMID:23049788 RGD:7207877 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G STOX1 storkhead box 1 IAGP HPO ORPHA:275555 NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP HPO ORPHA:495818 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G TALDO1 transaldolase 1 IAGP HPO ORPHA:101028 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012
JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO ORPHA:1194 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO OMIM:615988 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO OMIM:613464 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
JBrowse link
G TYR tyrosinase IAGP HPO ORPHA:895 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239
JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO ORPHA:201 NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO OMIM:235730 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP HPO ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155
JBrowse link
Abnormal glomerular basement membrane morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain IAGP HPO OMIM:620320 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
Abnormal glomerular filtration rate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT2 alanine--glyoxylate aminotransferase 2 IAGP DNA:SNP:cds:rs40200 (human) RGD PMID:25245031 RGD:329970278 NCBI chr 5:34,998,102...35,047,949
Ensembl chr 5:34,998,101...35,048,135
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP DNA:SNP:CDS:E1386K (rs146092501) (human) RGD PMID:30226566 RGD:401851058 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
Abnormal glomerular mesangium morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FN1 fibronectin 1 IAGP HPO ORPHA:84090 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
Abnormal localization of kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 IAGP HPO ORPHA:83473 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CCND2 cyclin D2 IAGP HPO ORPHA:83473 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811
JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO ORPHA:83473 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,532
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:500 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO ORPHA:2510 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207
JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO ORPHA:2510 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO ORPHA:2510 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:1225 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G TBC1D20 TBC1 domain family member 20 IAGP HPO ORPHA:2510 NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566
JBrowse link
G TBX22 T-box transcription factor 22 IAGP HPO ORPHA:921 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
JBrowse link
Abnormal medullary pyramid morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718
JBrowse link
Abnormal renal artery morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:79328 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
Abnormal renal collecting system morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO OMIM:113650 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO OMIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO OMIM:113650 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045
JBrowse link
Abnormal renal cortex morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Abnormal renal corticomedullary differentiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ7 coenzyme Q7, hydroxylase IAGP HPO OMIM:616733 NCBI chr16:19,067,614...19,083,097
Ensembl chr16:19,067,614...19,080,095
JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP HPO OMIM:617397 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,150,118...18,177,397
JBrowse link
Abnormal renal glomerulus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E IAGP DNA:missense mutation:cds:p.R145P RGD PMID:9176854 RGD:6903202 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:transition:cds:g.677C>T RGD PMID:22111818 RGD:6893468 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP HPO OMIM:137940 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
JBrowse link
Abnormal renal insterstitial morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 IAGP HPO ORPHA:84081 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO ORPHA:84081 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
Abnormal renal medulla morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPHP1 nephrocystin 1 IAGP HPO OMIM:609583 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Abnormal renal morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP HPO ORPHA:48 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637
JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO OMIM:616562 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
JBrowse link
G CASR calcium sensing receptor susceptibility IAGP DNA:missense mutation:cds:p.R990G (rs1042636)
DNA:snps, haplotypes:multiple
associated with Hyperparathyroidism, Primary;DNA:snp:intron:IVS1G>A (rs1501899)
RGD PMID:17018660 PMID:20067903 PMID:21183554 RGD:13464331, RGD:7205448, RGD:7205447 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO ORPHA:48 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO OMIM:614615 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO OMIM:610253 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
JBrowse link
G ELN elastin IAGP HPO OMIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G FANCA FA complementation group A IAGP HPO OMIM:227650 ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255
JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
JBrowse link
G FANCI FA complementation group I IAGP HPO OMIM:609053 ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:207410 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FLCN folliculin IAGP HPO OMIM:610883 NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
JBrowse link
G GLMN glomulin, FKBP associated protein IAGP HPO ORPHA:83454 NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO OMIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*2
associated with Diabetes Mellitus, Type 2;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2
DNA:repeats:intron:IVS2+914_1000dup IL1RN*1
DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951)
RGD PMID:10916103 PMID:9186886 PMID:16174285 PMID:17258699 PMID:19280228 RGD:6906961, RGD:6909151, RGD:6907371, RGD:6907128, RGD:6907082 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811
JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MMP1 matrix metallopeptidase 1 susceptibility
no_association
IAGP DNA:insertion:promoter:g.-1607insG RGD PMID:12845675 PMID:17980059 PMID:19843588 RGD:7207023, RGD:7207082, RGD:7207056 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP3 matrix metallopeptidase 3 IAGP DNA:missense mutation:cds:p.E45K (rs679620) RGD PMID:15319295 RGD:7207067 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
severity
no_association
IAGP DNA:transition, transversion:cds:g.677C>T, g.1298A>C
DNA:missense mutation:cds:p.A222V (rs1801133)
DNA:transition:cds:g.677C>T
RGD PMID:21489764 PMID:18098291 PMID:20039875 PMID:19346876 PMID:19520069 More... RGD:6893474, RGD:6893654, RGD:6893632, RGD:6893546, RGD:6893523, RGD:6893522 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP HPO ORPHA:329224 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
JBrowse link
G PAH phenylalanine hydroxylase IAGP HPO ORPHA:2209 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO OMIM:239300 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO OMIM:207410 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO OMIM:182290 ORPHA:477817 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
JBrowse link
G TLR1 toll like receptor 1 susceptibility IAGP DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) RGD PMID:21108742 RGD:7246898 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817
JBrowse link
G TLR9 toll like receptor 9 severity
susceptibility
IAGP DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140)
DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140)
kidney;DNA:snp:exon:g.+2848G>A (rs352140)
RGD PMID:20497632 PMID:18776126 PMID:22251233 RGD:7246884, RGD:7246889, RGD:7246885 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
JBrowse link
G WDR19 WD repeat domain 19 IAGP DNA:missense mutations, snps, insertion:multiple RGD PMID:26260382 RGD:11553845 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
JBrowse link
Abnormal renal pelvis morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCHS1 dachsous cadherin-related 1 IAGP ClinVar Annotator: match by term: Abnormality of the renal pelvis ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
JBrowse link
Abnormal renal physiology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IAGP HPO OMIM:274150 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP HPO ORPHA:99971 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CEP290 centrosomal protein 290 IAGP associated with Joubert syndrome 5;DNA:nonsense mutations, frameshift mutations:CDS:multiple RGD PMID:29146704 RGD:329901759 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP DNA:mutations:multiple RGD PMID:9792862 RGD:11064664 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP HPO OMIM:223900 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit treatment IAGP associated with Ovarian Neoplasms;DNA:SNPs: :8092C>A, 19007T>C (human) RGD PMID:19786980 RGD:5688741 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:99971 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
JBrowse link
G HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 IAGP HPO ORPHA:93600 NCBI chr10:97,584,389...97,612,802
Ensembl chr10:97,584,323...97,612,802
JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:99971 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MYO5B myosin VB IAGP HPO ORPHA:2290 NCBI chr18:49,822,789...50,195,147
Ensembl chr18:49,822,789...50,195,164
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO OMIM:266500 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO OMIM:266500 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PRF1 perforin 1 IAGP HPO ORPHA:540 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759
JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO ORPHA:94088 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353
JBrowse link
G SLC2A9 solute carrier family 2 member 9 IAGP HPO ORPHA:94088 NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
JBrowse link
G STX11 syntaxin 11 IAGP HPO ORPHA:540 NCBI chr 6:144,139,963...144,191,939
Ensembl chr 6:144,150,487...144,191,939
JBrowse link
G STX3 syntaxin 3 IAGP HPO ORPHA:2290 NCBI chr11:59,754,188...59,805,878
Ensembl chr11:59,713,456...59,805,882
JBrowse link
G STXBP2 syntaxin binding protein 2 IAGP HPO ORPHA:540 NCBI chr19:7,629,793...7,647,873
Ensembl chr19:7,636,772...7,647,873
JBrowse link
G TLR1 toll like receptor 1 susceptibility IAGP DNA:snp:cds:p.S602I RGD PMID:19543401 RGD:7246906 NCBI chr 4:38,787,569...38,805,644
Ensembl chr 4:38,790,677...38,856,817
JBrowse link
G TTR transthyretin IAGP HPO ORPHA:85447 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
JBrowse link
G UNC13D unc-13 homolog D IAGP HPO ORPHA:540 NCBI chr17:75,827,225...75,844,404
Ensembl chr17:75,827,225...75,844,785
JBrowse link
Abnormal renal tubular resorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRD1 dopamine receptor D1 IAGP DNA:SNPs, haplotypes:promoter:-48A>G, -94G>A, -800C>T RGD PMID:18413491 RGD:7248550 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
JBrowse link
Abnormal renal tubule morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha IAGP HPO ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP HPO OMIM:611719 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:255210 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:255210 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:255210 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:255210 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670
JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP HPO ORPHA:839 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G REN renin IAGP DNA:polymorphisms:cds, intron:multiple RGD PMID:16116425 RGD:1598878 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G SHPK sedoheptulokinase IAGP HPO ORPHA:440713 NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250
JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO ORPHA:94088 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353
JBrowse link
G SLC2A9 solute carrier family 2 member 9 IAGP HPO ORPHA:94088 NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820
JBrowse link
Abnormal tubulointerstitial morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO ORPHA:411629 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
Abnormality of renal excretion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMP1 dentin matrix acidic phosphoprotein 1 IAGP HPO ORPHA:289176 NCBI chr 4:87,650,280...87,664,357
Ensembl chr 4:87,650,280...87,664,361
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:289176 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Absence of renal corticomedullary differentiation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H4C3 H4 clustered histone 3 IAGP HPO OMIM:619758 NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337
JBrowse link
G IFNG interferon gamma IAGP HPO OMIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G INVS inversin IAGP HPO OMIM:602088 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175
JBrowse link
G PAX2 paired box 2 IAGP HPO OMIM:120330 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
G PBX1 PBX homeobox 1 IAGP HPO OMIM:617641 NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO OMIM:263200 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO OMIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
Acute kidney injury term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO ORPHA:57 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457
JBrowse link
G APRT adenine phosphoribosyltransferase IAGP HPO ORPHA:976 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP HPO ORPHA:89938 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
G C3 complement C3 IAGP HPO OMIM:612925 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:423 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:29073 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G CD46 CD46 molecule IAGP HPO OMIM:612922 ORPHA:244242 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CFB complement factor B IAGP HPO OMIM:612924 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CFH complement factor H IAGP HPO OMIM:235400 ORPHA:244242 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFHR1 complement factor H related 1 IAGP HPO OMIM:235400 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
JBrowse link
G CFHR3 complement factor H related 3 IAGP HPO OMIM:235400 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407
JBrowse link
G CFI complement factor I IAGP HPO OMIM:612923 ORPHA:244242 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP HPO ORPHA:89938 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:89938 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G CORIN corin, serine peptidase IAGP HPO ORPHA:275555 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP HPO OMIM:615008 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567
JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP HPO ORPHA:275555 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G HELLPAR HELLP associated long non-coding RNA IAGP HPO ORPHA:244242 Ensembl chr12:102,197,585...102,402,596 JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO ORPHA:79233 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G LDHA lactate dehydrogenase A IAGP HPO ORPHA:284426 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425
JBrowse link
G LPIN1 lipin 1 IAGP HPO OMIM:268200 ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO OMIM:277400 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:99845 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:99845 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO ORPHA:99845 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:447 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO OMIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO ORPHA:411536 ORPHA:411543 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP HPO ORPHA:368 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:423 ORPHA:466650 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
JBrowse link
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO OMIM:220150 ORPHA:94088 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP HPO OMIM:167030 NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
JBrowse link
G SLC2A9 solute carrier family 2 member 9 IAGP HPO ORPHA:94088 NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
JBrowse link
G STAT2 signal transducer and activator of transcription 2 IAGP HPO OMIM:618886 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203
JBrowse link
G STOX1 storkhead box 1 IAGP HPO ORPHA:275555 NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
JBrowse link
G TCN2 transcobalamin 2 IAGP HPO ORPHA:859 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
JBrowse link
G THBD thrombomodulin IAGP HPO OMIM:612926 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Acute kidney failure ClinVar PMID:27633801 PMID:33490854 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031
JBrowse link
Anuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IAGP HPO OMIM:267430 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G AGT angiotensinogen IAGP HPO OMIM:267430 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AGTR1 angiotensin II receptor type 1 IAGP HPO OMIM:267430 NCBI chr 3:148,697,903...148,743,003
Ensembl chr 3:148,697,784...148,743,008
JBrowse link
G C3 complement C3 IAGP HPO OMIM:612925 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CD46 CD46 molecule IAGP HPO OMIM:612922 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513
JBrowse link
G CFB complement factor B IAGP HPO OMIM:612924 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086
JBrowse link
G CFH complement factor H IAGP HPO OMIM:235400 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFHR1 complement factor H related 1 IAGP HPO OMIM:235400 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
JBrowse link
G CFHR3 complement factor H related 3 IAGP HPO OMIM:235400 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407
JBrowse link
G CFI complement factor I IAGP HPO OMIM:612923 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G MYH11 myosin heavy chain 11 IAGP HPO OMIM:619351 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,857,028
JBrowse link
G REN renin IAGP HPO OMIM:267430 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G THBD thrombomodulin IAGP HPO OMIM:612926 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672
JBrowse link
Axial malrotation of the kidney term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
JBrowse link
Bicarbonate-wasting renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO ORPHA:3337 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990
JBrowse link
G GATM glycine amidinotransferase IAGP HPO ORPHA:3337 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO ORPHA:3337 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SLC4A4 solute carrier family 4 member 4 IAGP HPO OMIM:604278 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
JBrowse link
Bilateral fetal pyelectasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FH fumarate hydratase IAGP HPO OMIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
Bilateral renal agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Bilateral renal agenesis ClinVar PMID:25741868 PMID:35005812 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
JBrowse link
G FGF20 fibroblast growth factor 20 IAGP HPO OMIM:615721 NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 IAGP HPO OMIM:617666 NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131
JBrowse link
G GFRA1 GDNF family receptor alpha 1 IAGP HPO OMIM:619887 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO OMIM:617667 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162
JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP HPO OMIM:191830 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922
JBrowse link
G KIF14 kinesin family member 14 IAGP HPO OMIM:616258 OMIM:617914 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751
JBrowse link
G NADSYN1 NAD synthetase 1 IAGP HPO OMIM:618845 NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107
JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP ClinVar Annotator: match by term: Bilateral renal agenesis ClinVar
HPO
PMID:25741868 PMID:29194579 OMIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
JBrowse link
Bilateral renal atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B IAGP HPO OMIM:166300 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
Bilateral renal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Bilateral renal hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F IAGP HPO OMIM:243605 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:619695 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Calcium nephrolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Calcium kidney stone ClinVar PMID:25741868 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO OMIM:241530 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
JBrowse link
Calcium oxalate nephrolithiasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY10 adenylate cyclase 10 IAGP HPO OMIM:143870 ORPHA:2197 NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215
JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO OMIM:259900 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
JBrowse link
G AHSG alpha 2-HS glycoprotein IAGP ClinVar Annotator: match by term: Calcium oxalate urolithiasis ClinVar PMID:24886237 NCBI chr 3:186,613,060...186,621,318
Ensembl chr 3:186,613,060...186,621,318
JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP HPO ORPHA:730 NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:730 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IAGP ClinVar Annotator: match by term: Calcium oxalate urolithiasis ClinVar PMID:24886237 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317
JBrowse link
G BICC1 BicC family RNA binding protein 1 IAGP HPO ORPHA:730 NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435
JBrowse link
G CD44 CD44 molecule (IN blood group) IAGP ClinVar Annotator: match by term: Calcium oxalate urolithiasis ClinVar PMID:24886237 NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP HPO ORPHA:730 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800
JBrowse link
G GANAB glucosidase II alpha subunit IAGP HPO ORPHA:730 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726
JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP HPO OMIM:260000 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990
JBrowse link
G HAO1 hydroxyacid oxidase 1 IAGP ClinVar Annotator: match by term: Calcium oxalate urolithiasis ClinVar PMID:24886237 NCBI chr20:7,882,985...7,940,458
Ensembl chr20:7,882,985...7,940,458
JBrowse link
G HOGA1 4-hydroxy-2-oxoglutarate aldolase 1 IAGP HPO OMIM:613616 ORPHA:93600 NCBI chr10:97,584,389...97,612,802
Ensembl chr10:97,584,323...97,612,802
JBrowse link
G IDUA alpha-L-iduronidase IAGP ClinVar Annotator: match by term: Calcium oxalate urolithiasis
ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis
ClinVar PMID:25741868 PMID:27125215 PMID:27210743 PMID:27238910 PMID:27939258 More... NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:730 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing IAGP HPO OMIM:260005 NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965
JBrowse link
G PAQR6 progestin and adipoQ receptor family member 6 IAGP ClinVar Annotator: match by term: Calcium oxalate urolithiasis ClinVar PMID:24886237 NCBI chr 1:156,243,320...156,248,056
Ensembl chr 1:156,243,320...156,248,117
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP HPO ORPHA:730 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP HPO ORPHA:730 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Calcium oxalate urolithiasis
ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis
ClinVar
HPO
PMID:25741868 PMID:27125215 PMID:27210743 PMID:27238910 PMID:27939258 More... OMIM:167030 NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440
JBrowse link
G SLC36A2 solute carrier family 36 member 2 IAGP HPO OMIM:138500 NCBI chr 5:151,314,972...151,347,559
Ensembl chr 5:151,314,972...151,347,590
JBrowse link
G SNORD164 small nucleolar RNA, C/D box 164 IAGP ClinVar Annotator: match by term: Calcium oxalate urolithiasis ClinVar PMID:24886237 NCBI chr11:35,162,950...35,163,010 JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO OMIM:248000 NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583
JBrowse link
Chronic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
JBrowse link
G ACTN4 actinin alpha 4 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:25741868 ORPHA:656 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO ORPHA:469 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664
JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP HPO ORPHA:730 NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:730 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ANKFY1 ankyrin repeat and FYVE domain containing 1 IAGP HPO ORPHA:656 NCBI chr17:4,163,821...4,263,979
Ensembl chr17:4,163,821...4,263,995
JBrowse link
G ANLN anillin, actin binding protein IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:25741868 PMID:28492532 ORPHA:656 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791
JBrowse link
G APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOL1 apolipoprotein L1 IAGP HPO ORPHA:656 NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530
JBrowse link
G APRT adenine phosphoribosyltransferase IAGP HPO ORPHA:976 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP HPO ORPHA:656 NCBI chr 4:85,475,150...86,002,666
Ensembl chr 4:85,475,150...86,002,668
JBrowse link
G ARHGDIA Rho GDP dissociation inhibitor alpha IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:25741868 OMIM:615244 ORPHA:656 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378
JBrowse link
G ARL6 ADP ribosylation factor like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773
JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More... NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735
JBrowse link
G B2M beta-2-microglobulin IAGP HPO ORPHA:314652 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
JBrowse link
G BICC1 BicC family RNA binding protein 1 IAGP HPO ORPHA:730 NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435
JBrowse link
G BNC2 basonuclin zinc finger protein 2 IAGP HPO ORPHA:93110 NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP HPO ORPHA:89938 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
G CD2AP CD2 associated protein IAGP HPO ORPHA:656 NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263
JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Progressive renal insufficiency ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861
JBrowse link
G CEP164 centrosomal protein 164 IAGP HPO ORPHA:3156 NCBI chr11:117,321,778...117,413,266
Ensembl chr11:117,314,557...117,413,266
JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 ORPHA:3156 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
G CFH complement factor H IAGP ClinVar Annotator: match by term: Progressive renal insufficiency ClinVar
HPO
PMID:25741868 OMIM:609814 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
JBrowse link
G CFHR1 complement factor H related 1 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chr 1:196,819,731...196,832,189
Ensembl chr 1:196,819,731...196,837,159
JBrowse link
G CFHR5 complement factor H related 5 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:17000000 PMID:22503529 PMID:22527104 PMID:24033266 PMID:25260719 More... NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678
JBrowse link
G CFI complement factor I IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:17084897 PMID:20301541 PMID:25741868 PMID:28492532 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 OMIM:310468 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP HPO ORPHA:89938 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:89938 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G CLDN16 claudin 16 IAGP HPO OMIM:248250 NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
JBrowse link
G CLDN19 claudin 19 IAGP HPO OMIM:248190 NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:14871398 PMID:17216251 PMID:24033266 PMID:24854265 PMID:25741868 More... ORPHA:656 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:12325029 PMID:21196518 PMID:24052634 PMID:24854265 PMID:25307543 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453
JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545
JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP HPO ORPHA:1018 NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP HPO ORPHA:79408 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G COQ8B coenzyme Q8B IAGP HPO ORPHA:656 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784
JBrowse link
G CORIN corin, serine peptidase IAGP HPO ORPHA:275555 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106
JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP HPO ORPHA:656 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324
JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 IAGP HPO ORPHA:656 NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877
JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP HPO ORPHA:84081 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP HPO ORPHA:730 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800
JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702
JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:25741868 PMID:28492532 ORPHA:3337 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G EMP2 epithelial membrane protein 2 IAGP HPO ORPHA:656 NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632
JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP ClinVar Annotator: match by term: Progressive renal insufficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP HPO ORPHA:275555 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G FN1 fibronectin 1 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995
JBrowse link
G GANAB glucosidase II alpha subunit IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:25741868 PMID:28492532 ORPHA:730 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726
JBrowse link
G GAPVD1 GTPase activating protein and VPS9 domains 1 IAGP HPO ORPHA:656 NCBI chr 9:125,261,826...125,367,207
Ensembl chr 9:125,261,794...125,367,207
JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO OMIM:146255 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GATM glycine amidinotransferase IAGP HPO ORPHA:3337 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO OMIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO OMIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:730 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:615630 ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:25741868 PMID:28492532 ORPHA:656 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535
JBrowse link
G INVS inversin IAGP HPO ORPHA:3156 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175
JBrowse link
G IQCB1 IQ motif containing B1 IAGP HPO ORPHA:3156 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079
JBrowse link
G KYNU kynureninase IAGP HPO OMIM:617661 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833
JBrowse link
G LDHA lactate dehydrogenase A IAGP HPO ORPHA:284426 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425
JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chr11:32,430,169...32,437,423 JBrowse link
G LOC126806496 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:215,375,334...215,376,533 JBrowse link
G LOC126806498 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216288045-216289244 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:215,423,322...215,424,521 JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
JBrowse link
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP HPO ORPHA:656 NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:14871398 PMID:17216251 PMID:24033266 PMID:24854265 PMID:25741868 More... NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP ClinVar Annotator: match by term: Progressive renal insufficiency ClinVar
HPO
PMID:20301500 PMID:24886560 PMID:25741868 PMID:26092869 PMID:26490104 More... ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MMP1 matrix metallopeptidase 1 IAGP HPO ORPHA:79408 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:31965079 NCBI chr MT:577...647
Ensembl chr MT:577...647
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:324525 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MYO1E myosin IE IAGP HPO ORPHA:656 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO ORPHA:3337 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
JBrowse link
G NHERF1 NHERF family PDZ scaffold protein 1 IAGP ClinVar Annotator: match by term: Progressive renal insufficiency ClinVar PMID:18784102 PMID:25741868 PMID:28492532 NCBI chr17:74,748,628...74,769,353
Ensembl chr17:74,748,628...74,769,353
JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 ORPHA:3156 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO ORPHA:3156 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432
JBrowse link
G NPHP4 nephrocystin 4 IAGP HPO ORPHA:3156 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP HPO ORPHA:656 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... ORPHA:656 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP HPO ORPHA:642 NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:656 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
JBrowse link
G NUP133 nucleoporin 133 IAGP HPO ORPHA:656 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341
JBrowse link
G NUP160 nucleoporin 160 IAGP HPO ORPHA:656 NCBI chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555
JBrowse link
G NUP205 nucleoporin 205 IAGP HPO ORPHA:656 NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757
JBrowse link
G NUP37 nucleoporin 37 IAGP HPO ORPHA:656 NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120
JBrowse link
G NUP85 nucleoporin 85 IAGP HPO ORPHA:656 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
JBrowse link
G NUP93 nucleoporin 93 IAGP HPO ORPHA:656 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:300555 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G PASK PAS domain containing serine/threonine kinase IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 NCBI chr 2:241,106,099...241,150,347
Ensembl chr 2:241,106,099...241,150,264
JBrowse link
G PAX2 paired box 2 IAGP HPO OMIM:120330 ORPHA:656 ORPHA:97362 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
G PBX1 PBX homeobox 1 IAGP HPO ORPHA:97362 NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO ORPHA:447 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Progressive renal insufficiency ClinVar
HPO
PMID:25741868 ORPHA:730 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP HPO ORPHA:730 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP HPO ORPHA:656 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013
JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O IAGP HPO ORPHA:656 NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP HPO ORPHA:368 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
JBrowse link
G REN renin IAGP HPO OMIM:613092 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324
JBrowse link
G SAA1 serum amyloid A1 IAGP HPO ORPHA:85445 NCBI chr11:18,266,264...18,269,967
Ensembl chr11:18,266,260...18,269,977
JBrowse link
G SARS2 seryl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:613845 NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763
JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 ORPHA:3156 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO OMIM:617056 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705
JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261222 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO ORPHA:94088 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353
JBrowse link
G SLC2A9 solute carrier family 2 member 9 IAGP HPO ORPHA:94088 NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP HPO OMIM:137940 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
JBrowse link
G STOX1 storkhead box 1 IAGP HPO ORPHA:275555 NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432
JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP HPO ORPHA:656 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150
JBrowse link
G TBX18 T-box transcription factor 18 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598
JBrowse link
G TFCP2L1 transcription factor CP2 like 1 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:33097957 NCBI chr 2:121,216,587...121,285,202
Ensembl chr 2:121,216,587...121,285,202
JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:602152 ORPHA:84081 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO ORPHA:3156 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP HPO OMIM:603965 ORPHA:656 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562
JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Progressive renal insufficiency ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
JBrowse link
G UMOD uromodulin IAGP ClinVar Annotator: match by term: Progressive renal insufficiency ClinVar PMID:25741868 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:3156 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar
HPO
PMID:25741868 ORPHA:656 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
G ZNF423 zinc finger protein 423 IAGP ClinVar Annotator: match by term: Chronic kidney disease ClinVar PMID:25741868 PMID:28492532 PMID:32723786 NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919
JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO OMIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
JBrowse link
Chronic tubulointerstitial nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INVS inversin IAGP HPO OMIM:602088 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614376 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
Clear cell renal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATM ATM serine/threonine kinase IAGP ClinVar Annotator: match by term: Clear cell renal cell carcinoma ClinVar PMID:8755918 PMID:9792409 PMID:10980530 PMID:18560558 PMID:19431188 More... NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP ClinVar Annotator: match by term: Clear cell renal cell carcinoma ClinVar PMID:25741868 PMID:28492532 PMID:35483881 PMID:35992853 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G C11orf65 chromosome 11 open reading frame 65 IAGP ClinVar Annotator: match by term: Clear cell renal cell carcinoma ClinVar PMID:8755918 PMID:9792409 PMID:10980530 PMID:18560558 PMID:19431188 More... NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
JBrowse link
G C12orf43 chromosome 12 open reading frame 43 IAGP ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:25741868 NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502
JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I IAGP ClinVar Annotator: match by term: Renal cell carcinoma, nonpapillary ClinVar NCBI chr 3:9,757,347...9,769,947
Ensembl chr 3:9,757,347...9,769,992
JBrowse link
G FLCN folliculin IAGP ClinVar Annotator: match by term: Renal cell carcinoma, nonpapillary
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma
ClinVar PMID:12204536 PMID:12471204 PMID:15805188 PMID:15852235 PMID:16199547 More... NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Renal cell carcinoma, nonpapillary
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma
ClinVar Annotator: match by term: Clear cell renal cell carcinoma
ClinVar PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
JBrowse link
G HNF1B HNF1 homeobox B IAGP ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:9398836 PMID:10672455 PMID:11085914 PMID:11317673 PMID:11845238 More... NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059
JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Renal cell carcinoma, nonpapillary
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma
ClinVar PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G LOC126862549 BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 IAGP ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:16199547 PMID:19639018 More... NCBI chr17:37,733,408...37,734,611 JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP HPO ORPHA:90340 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase IAGP ClinVar Annotator: match by term: Renal cell carcinoma, nonpapillary
ClinVar Annotator: match by term: Clear cell renal cell carcinoma
ClinVar PMID:9681819 PMID:10987279 PMID:12172214 PMID:19537786 PMID:21195604 More... NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PBRM1 polybromo 1 IAGP ClinVar Annotator: match by term: Clear cell renal cell carcinoma ClinVar PMID:25911086 NCBI chr 3:52,545,367...52,685,913
Ensembl chr 3:52,545,352...52,685,917
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Renal cell carcinoma, nonpapillary
ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma
ClinVar PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667
JBrowse link
Congenital nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIRREL2 kirre like nephrin family adhesion molecule 2 IAGP ClinVar Annotator: match by term: Congenital nephrotic syndrome
ClinVar Annotator: match by term: Nephrosis, congenital
ClinVar Annotator: match by term: Congenital nephrosis
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More... NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL ClinVar NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287
JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Congenital nephrotic syndrome
ClinVar Annotator: match by term: Nephrosis, congenital
ClinVar Annotator: match by term: Congenital nephrosis
ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL
ClinVar
HPO
PMID:9915943 PMID:10652016 PMID:11317351 PMID:11854170 PMID:12039988 More... OMIM:256300 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO OMIM:617730 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444
JBrowse link
Cortical nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Crescentic glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Crescentic glomerulonephritis ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861
JBrowse link
G COPA COPI coat complex subunit alpha IAGP HPO OMIM:616414 NCBI chr 1:160,288,594...160,343,250
Ensembl chr 1:160,288,594...160,343,566
JBrowse link
Crossed fused renal ectopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G CCNQ cyclin Q IAGP HPO OMIM:300707 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045
JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO OMIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP HPO OMIM:618142 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
JBrowse link
G DACT1 dishevelled binding antagonist of beta catenin 1 IAGP HPO OMIM:617466 NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO OMIM:300960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO OMIM:607323 ORPHA:959 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:3097 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
JBrowse link
Cystic renal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO OMIM:615989 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G BICC1 BicC family RNA binding protein 1 IAGP HPO OMIM:601331 NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435
JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO OMIM:608022 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427
JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Cystic renal dysplasia ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 PMID:21866095 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G JAM3 junctional adhesion molecule 3 IAGP HPO OMIM:613730 NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001
JBrowse link
G LRRC37A2 leucine rich repeat containing 37 member A2 IAGP ClinVar Annotator: match by term: Cystic renal dysplasia ClinVar PMID:34145744 NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G NEK8 NIMA related kinase 8 IAGP HPO OMIM:615415 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO OMIM:220500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G TMEM67 transmembrane protein 67 IAGP DNA:missense mutation:exon:p.R549C (c.1645C>T)
DNA:SNPs, deletions:exons:multiple
RGD PMID:26191240 PMID:17397051 RGD:11535080, RGD:11063991 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
JBrowse link
G WNT9B Wnt family member 9B IAGP ClinVar Annotator: match by term: Cystic renal dysplasia ClinVar PMID:34145744 NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730
JBrowse link
Decreased glomerular filtration rate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor severity IAGP DNA:polymorphisms:promoter, intron:g.-429T>C, g.2184A>G RGD PMID:20185929 RGD:7242570 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO ORPHA:93598 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP HPO ORPHA:730 NCBI chr13:36,949,738...36,999,367
Ensembl chr13:36,949,738...37,000,763
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase IAGP HPO ORPHA:730 NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
JBrowse link
G BICC1 BicC family RNA binding protein 1 IAGP HPO ORPHA:730 NCBI chr10:58,512,220...58,831,435
Ensembl chr10:58,512,872...58,831,435
JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP HPO OMIM:602522 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
G CASR calcium sensing receptor IAGP HPO OMIM:601198 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP HPO OMIM:613090 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO OMIM:613090 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G CYB561 cytochrome b561 IAGP HPO OMIM:618182 NCBI chr17:63,432,304...63,446,639
Ensembl chr17:63,432,304...63,446,354
JBrowse link
G DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 IAGP HPO OMIM:618061 ORPHA:730 NCBI chr 3:186,570,720...186,585,793
Ensembl chr 3:186,567,403...186,585,800
JBrowse link
G DRD1 dopamine receptor D1 IAGP DNA:polymorphism:5' utr:g.-94G>A RGD PMID:19675531 RGD:7248447 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
JBrowse link
G G6PC1 glucose-6-phosphatase catalytic subunit 1 IAGP HPO OMIM:232200 NCBI chr17:42,900,799...42,914,438
Ensembl chr17:42,900,797...42,914,438
JBrowse link
G GANAB glucosidase II alpha subunit IAGP HPO ORPHA:730 NCBI chr11:62,624,829...62,646,613
Ensembl chr11:62,624,826...62,646,726
JBrowse link
G GLO1 glyoxalase I IAGP DNA, protein:frameshift mutation, decreased activity:erythrocyte RGD PMID:22001178 RGD:8552679 NCBI chr 6:38,675,925...38,703,145
Ensembl chr 6:38,675,925...38,703,145
JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO OMIM:203500 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:730 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
JBrowse link
G IL1B interleukin 1 beta IAGP associated with Periodontitis;DNA:SNP:intron:g.3954C>T RGD PMID:22795294 RGD:6906881 NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL1RN interleukin 1 receptor antagonist susceptibility IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*1
DNA:polymorphism:exon:g.14709C>T (rs315952)
RGD PMID:22795294 PMID:16766392 PMID:12837270 RGD:6906881, RGD:6907370, RGD:6907105 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G ITGA3 integrin subunit alpha 3 IAGP HPO OMIM:614748 NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
JBrowse link
G MMP1 matrix metallopeptidase 1 no_association
severity
IAGP DNA:insertion:promoter:g.-1607insG
DNA:insertion, haplotype:promoter:g.-1607insG
RGD PMID:22401717 PMID:19221176 RGD:7206856, RGD:7207064 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP3 matrix metallopeptidase 3 severity IAGP DNA:insertion, haplotype:promoter:g.-1613insA RGD PMID:19221176 RGD:7207064 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP associated with hypertension
DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A
DNA:transition, transversion:cds:g.677C>T, g.1298A>C
DNA:transition:cds:g.677C>T
RGD PMID:22897803 PMID:17899317 PMID:21613384 PMID:22111818 RGD:6893451, RGD:6893579, RGD:6893469, RGD:6893468 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MUC1 mucin 1, cell surface associated IAGP HPO OMIM:174000 NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
JBrowse link
G PAX2 paired box 2 IAGP HPO ORPHA:97362 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944
JBrowse link
G PBX1 PBX homeobox 1 IAGP HPO ORPHA:97362 NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP HPO ORPHA:730 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898
JBrowse link
G PKD2 polycystin 2, transient receptor potential cation channel IAGP HPO ORPHA:730 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
JBrowse link
G PTH parathyroid hormone IAGP DNA:snps:exon, intron:g.350C>A, g.IVS2+56G>A (rs6256, rs6254) RGD PMID:22777106 RGD:7242744 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
JBrowse link
G RGS14 regulator of G protein signaling 14 IAGP DNA:SNP: :rs11746443 RGD PMID:22396660 RGD:7242927 NCBI chr 5:177,357,924...177,372,596
Ensembl chr 5:177,357,924...177,372,596
JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO ORPHA:94088 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353
JBrowse link
G SLC2A9 solute carrier family 2 member 9 IAGP HPO ORPHA:94088 NCBI chr 4:9,771,025...10,040,270
Ensembl chr 4:9,771,153...10,054,936
JBrowse link
G SLC34A1 solute carrier family 34 member 1