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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 urinary system physiology
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Accession:HP:0011277 term browser browse the term
Synonyms:xref: UMLS:C4023437


show annotations for term's descendants           Sort by:
2,8-dihydroxyadenine crystalluria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APRT adenine phosphoribosyltransferase IAGP HPO OMIM:614723 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937 		JBrowse link
2-ethylhydracylic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADSB acyl-CoA dehydrogenase short/branched chain IAGP HPO OMIM:610006 NCBI chr10:123,009,006...123,058,290
Ensembl chr10:123,008,979...123,058,290 		JBrowse link
2-hydroxyadipic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP HPO OMIM:204750 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221 		JBrowse link
3-hydroxydicarboxylic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO OMIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO OMIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP HPO OMIM:613070 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		JBrowse link
3-hydroxyisovaleric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA5A carbonic anhydrase 5A IAGP HPO OMIM:615751 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
G HLCS holocarboxylase synthetase IAGP HPO OMIM:253270 NCBI chr21:36,748,625...36,990,211
Ensembl chr21:36,748,626...36,990,236 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 IAGP HPO OMIM:210200 NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075 		JBrowse link
3-Methylglutaconic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGK acylglycerol kinase IAGP HPO OMIM:212350 NCBI chr 7:141,551,410...141,655,244
Ensembl chr 7:141,551,278...141,655,244 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP HPO ORPHA:496790 NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO OMIM:615228 ORPHA:254913 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO OMIM:618120 ORPHA:254913 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G ATP5F1E ATP synthase F1 subunit epsilon IAGP HPO OMIM:614053 ORPHA:254913 NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345 		JBrowse link
G ATP5MK ATP synthase membrane subunit k IAGP HPO ORPHA:254913 NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492 		JBrowse link
G ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 IAGP HPO ORPHA:254913 NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO OMIM:604273 ORPHA:254913 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP HPO OMIM:250950 ORPHA:67046 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP ClinVar Annotator: match by term: 3-Methylglutaconic aciduria ClinVar
HPO		 PMID:34140661 OMIM:616271 OMIM:619813 OMIM:619835 ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP ClinVar Annotator: match by term: 3-Methylglutaconic aciduria ClinVar
HPO		 PMID:25741868 OMIM:610198 ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP HPO OMIM:617248 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:620089 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G MICOS13 mitochondrial contact site and cristae organizing system subunit 13 IAGP HPO OMIM:618329 ORPHA:67047 NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:254913 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:254913 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		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 NGLY1 N-glycanase 1 IAGP HPO OMIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP ClinVar Annotator: match by term: 3-Methylglutaconic aciduria HPO
ClinVar		 PMID:28492532 OMIM:258501 ORPHA:67047 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:203700 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO OMIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SERAC1 serine active site containing 1 IAGP HPO OMIM:614739 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		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
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO OMIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO OMIM:617698 ORPHA:505216 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TMEM70 transmembrane protein 70 IAGP HPO OMIM:614052 ORPHA:1194 NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783 		JBrowse link
3-Methylglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPB ClpB family mitochondrial disaggregase IAGP ClinVar Annotator: match by term: 3-Methylglutaric aciduria ClinVar PMID:34140661 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO OMIM:610198 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO OMIM:246450 ORPHA:20 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP HPO OMIM:617248 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP HPO OMIM:258501 NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP HPO OMIM:617698 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
4-hydroxyphenylacetic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase IAGP HPO OMIM:140350 OMIM:276710 ORPHA:2118 NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596 		JBrowse link
G TFAM transcription factor A, mitochondrial IAGP HPO OMIM:617156 NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220 		JBrowse link
4-Hydroxyphenylpyruvic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase IAGP HPO OMIM:140350 OMIM:276710 ORPHA:2118 NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596 		JBrowse link
G TAT tyrosine aminotransferase IAGP HPO OMIM:276600 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092 		JBrowse link
G TFAM transcription factor A, mitochondrial IAGP HPO OMIM:617156 NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220 		JBrowse link
Abnormal concentration of acylcarnitine in the urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTCD formimidoyltransferase cyclodeaminase IAGP HPO ORPHA:51208 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO ORPHA:391428 ORPHA:391457 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370 		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 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 urinary color term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC2 ATP binding cassette subfamily C member 2 IAGP HPO ORPHA:234 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP HPO ORPHA:2116 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G DMD dystrophin IAGP HPO ORPHA:98895 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP HPO ORPHA:2116 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:538 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:538 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
Abnormal urinary electrolyte concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 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 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 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		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 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 urine alpha-ketoglutarate concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OGDH oxoglutarate dehydrogenase IAGP HPO ORPHA:31 NCBI chr 7:44,606,627...44,709,066
Ensembl chr 7:44,606,572...44,709,066 		JBrowse link
Abnormal urine carbohydrate level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCXR dicarbonyl and L-xylulose reductase IAGP HPO ORPHA:2843 NCBI chr17:82,035,858...82,037,697
Ensembl chr17:82,035,136...82,037,709 		JBrowse link
G KHK ketohexokinase IAGP HPO ORPHA:2056 NCBI chr 2:27,086,772...27,100,762
Ensembl chr 2:27,086,772...27,100,762 		JBrowse link
Abnormal urine pH 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
Abnormal urine potassium concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
Abnormal urine sebacic acid concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA5A carbonic anhydrase 5A IAGP HPO OMIM:615751 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
Abnormal urine sodium concentration 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
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 IAGP HPO ORPHA:320 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		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
Abnormality of urine calcium concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor susceptibility
no_association		 IAGP DNA:missense mutations:cds:multiple
associated with Nephrolithiasis, Calcium Oxalate;DNA:missense mutation:cds:p.R990G
associated with Nephrolithiasis, Calcium Oxalate;DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q
DNA:missense mutation:cds:p.A213E 		RGD PMID:7726161 PMID:12239240 PMID:19887834 PMID:21034470 RGD:7205440, RGD:7205666, RGD:7205502, RGD:7205499 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP DNA:deletions, snps:multiple RGD PMID:16358215 RGD:7242925 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
Abnormality of urine catecholamine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRD1 dopamine receptor D1 IAGP DNA:polymorphism:5' utr:g.-94G>A rs5326 (human) RGD PMID:17353515 RGD:7248452 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO OMIM:256700 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
Abnormality of urine homeostasis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1501 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G DCXR dicarbonyl and L-xylulose reductase IAGP HPO OMIM:260800 NCBI chr17:82,035,858...82,037,697
Ensembl chr17:82,035,136...82,037,709 		JBrowse link
G DRD1 dopamine receptor D1 IAGP DNA:polymorphism:5' utr:g.-94G>A (rs5326) RGD PMID:17353515 RGD:7248452 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182 		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 IL1RN interleukin 1 receptor antagonist IAGP associated with Glomerulonephritis, IGA;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 RGD PMID:12138282 RGD:6909118 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP associated with Diabetes Mellitus, Type 2;DNA:transition, transversion:cds:g.677C>T, g.1298A>C RGD PMID:22554825 RGD:6893631 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NAT1 N-acetyltransferase 1 IAGP DNA:SNPs, deletion:cds, 3��� utr:multiple RGD PMID:17438651 RGD:25671462 NCBI chr 8:18,170,467...18,223,689
Ensembl chr 8:18,170,477...18,223,689 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha IAGP associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A (rs8192678) RGD PMID:22684233 RGD:7242025 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP RGD PMID:22919024 RGD:10450480 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1501 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		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 susceptibility IAGP DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) RGD PMID:21908957 RGD:7246887 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1501 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Absent urinary urothione term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
Aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRPS2 mitochondrial ribosomal protein S2 IAGP HPO OMIM:617950 NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:203700 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		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
Alaninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPT1 lipoyltransferase 1 IAGP HPO OMIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G UQCRB ubiquinol-cytochrome c reductase binding protein IAGP HPO OMIM:615158 NCBI chr 8:96,222,947...96,235,545
Ensembl chr 8:96,222,947...96,235,546 		JBrowse link
Albuminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme susceptibility
no_association		 IAGP associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del		 RGD PMID:8314010 PMID:16385653 PMID:7729604 RGD:7829777, RGD:8142355, RGD:7829780 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G AGER advanced glycosylation end-product specific receptor susceptibility IAGP associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:g.-429T>C RGD PMID:20353610 RGD:7244142 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		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 COL4A3 collagen type IV alpha 3 chain IAGP HPO OMIM:620536 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G CUBN cubilin IAGP HPO OMIM:618884 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		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 GALT galactose-1-phosphate uridylyltransferase IAGP HPO OMIM:230400 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		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 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 IL1RN interleukin 1 receptor antagonist no_association IAGP associated with Diabetes Mellitus, Type 2; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 RGD PMID:17286233 RGD:6909120 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T RGD PMID:14737040 RGD:6893524 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility
no_association		 IAGP associated with Anemia, Sickle Cell;DNA:repeats:intron:
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27		 RGD PMID:25263931 PMID:10741691 RGD:11533931, RGD:7421534 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO OMIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		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 PPARGC1A PPARG coactivator 1 alpha IAGP DNA:polymorphism:exon:p.G482S RGD PMID:19900151 RGD:7242045 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089 		JBrowse link
Alpha-aminoadipic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP HPO OMIM:204750 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:620089 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO OMIM:605711 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
Alpha-aminobutyric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOCAD focadhesin IAGP HPO OMIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
Aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASL argininosuccinate lyase IAGP HPO OMIM:207900 ORPHA:23 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO OMIM:604273 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO OMIM:124000 OMIM:603358 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G CASR calcium sensing receptor IAGP HPO OMIM:239200 ORPHA:417 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:308990 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP ClinVar Annotator: match by term: Aminoaciduria ClinVar NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 IAGP HPO ORPHA:147 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 ORPHA:411629 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G DDB2 damage specific DNA binding protein 2 IAGP HPO ORPHA:910 NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO OMIM:615605 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:910 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:910 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:910 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:614946 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
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 FOCAD focadhesin IAGP HPO OMIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP HPO OMIM:229100 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G GALE UDP-galactose-4-epimerase IAGP HPO OMIM:230350 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO OMIM:230400 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO OMIM:134600 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GCLC glutamate-cysteine ligase catalytic subunit IAGP HPO ORPHA:33574 NCBI chr 6:53,497,341...53,545,101
Ensembl chr 6:53,497,341...53,616,970 		JBrowse link
G GEMIN4 gem nuclear organelle associated protein 4 IAGP HPO OMIM:617913 NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999 		JBrowse link
G GLYCTK glycerate kinase IAGP HPO OMIM:220120 NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase IAGP HPO OMIM:250620 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO OMIM:616026 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO OMIM:615486 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO OMIM:609242 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO OMIM:618913 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:812 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NFS1 NFS1 cysteine desulfurase IAGP HPO OMIM:619386 NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355 		JBrowse link
G OAT ornithine aminotransferase IAGP HPO ORPHA:414 NCBI chr10:124,397,303...124,418,923
Ensembl chr10:124,397,303...124,418,976 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:300555 OMIM:309000 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OTC ornithine transcarbamylase IAGP HPO ORPHA:664 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone IAGP HPO OMIM:619055 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO OMIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO OMIM:214110 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO OMIM:612075 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP HPO OMIM:249270 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC1A1 solute carrier family 1 member 1 IAGP HPO OMIM:222730 NCBI chr 9:4,490,468...4,587,469
Ensembl chr 9:4,490,468...4,587,469 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO OMIM:603585 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO OMIM:222700 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SPINK5 serine peptidase inhibitor Kazal type 5 IAGP HPO ORPHA:634 NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO OMIM:612073 ORPHA:1933 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO OMIM:609560 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO OMIM:616084 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,933...3,153,435 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO ORPHA:417 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP HPO ORPHA:30 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP HPO OMIM:613404 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO OMIM:208085 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340 		JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor IAGP HPO ORPHA:910 NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,147...14,178,621 		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...15,858,438 		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
Argininosuccinic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASL argininosuccinate lyase IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:705937 PMID:1705937 PMID:2263616 PMID:9045711 PMID:9256435 More... NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G CRCP CGRP receptor component IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:28492532 NCBI chr 7:66,114,818...66,154,568
Ensembl chr 7:66,114,604...66,154,568 		JBrowse link
G GUSB glucuronidase beta IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:19224584 PMID:28492532 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:28492532 NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067 		JBrowse link
G LOC129998525 ATAC-STARR-seq lymphoblastoid silent region 18203 IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar NCBI chr 7:66,075,460...66,075,989 JBrowse link
G LOC129998526 ATAC-STARR-seq lymphoblastoid active region 26080 IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:66,076,090...66,076,369 JBrowse link
G RABGEF1 RAB guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:28492532 NCBI chr 7:66,654,567...66,811,464
Ensembl chr 7:66,682,164...66,811,464 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:28492532 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO OMIM:603471 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G TMEM248 transmembrane protein 248 IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:28492532 NCBI chr 7:66,921,225...66,958,551
Ensembl chr 7:66,921,225...66,958,551 		JBrowse link
G TPST1 tyrosylprotein sulfotransferase 1 IAGP ClinVar Annotator: match by term: Argininosuccinic Aciduria ClinVar PMID:28492532 NCBI chr 7:66,198,790...66,360,443
Ensembl chr 7:66,205,317...66,420,543 		JBrowse link
Argininuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO OMIM:238700 ORPHA:2203 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP HPO OMIM:220100 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		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
G SLC7A9 solute carrier family 7 member 9 IAGP HPO OMIM:220100 NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767 		JBrowse link
Aspartic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A1 solute carrier family 1 member 1 IAGP HPO OMIM:222730 NCBI chr 9:4,490,468...4,587,469
Ensembl chr 9:4,490,468...4,587,469 		JBrowse link
Aspartylglucosaminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGA aspartylglucosaminidase IAGP ClinVar Annotator: match by term: Aspartylglucosaminuria ClinVar
HPO		 PMID:1427775 PMID:1559710 PMID:1703489 PMID:1722323 PMID:1756604 More... OMIM:208400 ORPHA:93 NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437 		JBrowse link
G AGA-DT AGA divergent transcript IAGP ClinVar Annotator: match by term: Aspartylglucosaminuria ClinVar PMID:1722323 PMID:1765378 PMID:8457202 PMID:11309371 PMID:15365992 More... NCBI chr 4:177,442,514...177,697,910
Ensembl chr 4:177,442,519...177,681,381 		JBrowse link
Bacteriuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility IAGP DNA:SNP:promoter:g.-251T>A (rs4073) RGD PMID:22325052 RGD:7207860 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 susceptibility IAGP DNA:polymorphism:3' utr:1208C>T RGD PMID:22325052 RGD:7207860 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		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 TLR5 toll like receptor 5 severity IAGP DNA:nonsense mutation:cds:p.R392X RGD PMID:19543401 RGD:7246906 NCBI chr 1:223,109,404...223,143,248
Ensembl chr 1:223,109,404...223,143,292 		JBrowse link
Beta 2-microglobulinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:308990 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		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 SLC2A2 solute carrier family 2 member 2 IAGP HPO OMIM:227810 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
Beta-alaninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO OMIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
Beta-aminoisobutyric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT2 alanine--glyoxylate aminotransferase 2 IAGP ClinVar Annotator: match by term: Beta-aminoisobutyric aciduria
DNA:SNP:cds:V140I (rs37369) (human)
DNA:SNP, haplotype:exon:multiple (human)		 ClinVar
HPO
RGD		 PMID:21572414 PMID:25741868 PMID:21572414 PMID:33879046 OMIM:210100, RGD:329970283, RGD:329961321 NCBI chr 5:34,998,102...35,047,949
Ensembl chr 5:34,998,101...35,048,135 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO OMIM:615330 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257 		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
Bicarbonaturia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO OMIM:229600 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664 		JBrowse link
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 OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		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
Bilirubinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLCO1B1 solute carrier organic anion transporter family member 1B1 IAGP HPO ORPHA:3111 NCBI chr12:21,131,194...21,239,796
Ensembl chr12:21,131,194...21,239,796 		JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 IAGP HPO ORPHA:3111 NCBI chr12:20,810,705...20,916,911
Ensembl chr12:20,810,702...20,916,911 		JBrowse link
Cellular urinary casts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF1B TNF receptor superfamily member 1B IAGP DNA:polymorphism:cds:p.H131R RGD PMID:15004265 RGD:5147975 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
Chondroitin sulfate excretion in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO OMIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		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...110,307,202 		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: Chronic kidney disease ClinVar PMID:24215330 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 chr19:12,891,128...12,915,126 		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
Citrullinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO ORPHA:3124 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:28492532 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ARSA arylsulfatase A IAGP ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ASS1 argininosuccinate synthase 1 IAGP ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:934749 PMID:1943692 PMID:2246255 PMID:2358466 PMID:2615645 More... NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274 		JBrowse link
G EXOSC2 exosome component 2 IAGP ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:28492532 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288 		JBrowse link
G FUBP3 far upstream element binding protein 3 IAGP ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:28492532 NCBI chr 9:130,579,577...130,638,352
Ensembl chr 9:130,578,965...130,638,352 		JBrowse link
G LOC110121061 VISTA enhancer hs1328 IAGP ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:28492532 NCBI chr 9:130,478,260...130,479,710 JBrowse link
G PRDM12 PR/SET domain 12 IAGP ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:28492532 NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP ClinVar Annotator: match by term: Citrullinuria ClinVar PMID:9536098 PMID:10369257 PMID:11153906 PMID:11343052 PMID:11793471 More... NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		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
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
Crystalluria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Cystathioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTH cystathionine gamma-lyase IAGP ClinVar Annotator: match by term: Cystathioninuria ClinVar
HPO		 PMID:12574942 PMID:15151507 PMID:18476726 PMID:19019829 PMID:19428278 More... OMIM:219500 ORPHA:212 NCBI chr 1:70,411,268...70,439,851
Ensembl chr 1:70,411,218...70,439,851 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO OMIM:277380 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G LOC129930756 ATAC-STARR-seq lymphoblastoid silent region 989 IAGP ClinVar Annotator: match by term: Cystathioninuria ClinVar NCBI chr 1:70,411,159...70,411,308 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 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
Cystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO OMIM:238700 ORPHA:2203 ORPHA:3124 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G ANKRD17 ankyrin repeat domain 17 IAGP ClinVar Annotator: match by term: Cystinuria ClinVar NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798 		JBrowse link
G CAMKMT calmodulin-lysine N-methyltransferase IAGP HPO ORPHA:163693 NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592 		JBrowse link
G CENPF centromere protein F IAGP ClinVar Annotator: match by term: Cystinuria ClinVar PMID:25741868 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574 		JBrowse link
G CEP89 centrosomal protein 89 IAGP ClinVar Annotator: match by term: Cystinuria ClinVar PMID:21681106 NCBI chr19:32,875,925...32,971,958
Ensembl chr19:32,875,925...32,971,991 		JBrowse link
G PPM1B protein phosphatase, Mg2+/Mn2+ dependent 1B IAGP HPO ORPHA:163693 NCBI chr 2:44,168,875...44,246,928
Ensembl chr 2:44,167,969...44,244,384 		JBrowse link
G PREPL prolyl endopeptidase like IAGP ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: High urine cystine levels		 ClinVar
HPO		 PMID:7573036 PMID:8054986 PMID:8792820 PMID:9648062 PMID:9768685 More... OMIM:616224 ORPHA:163690 ORPHA:163693 NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP ClinVar Annotator: match by term: Cystinuria
ClinVar Annotator: match by term: High urine cystine levels		 ClinVar
HPO		 PMID:7539209 PMID:7573036 PMID:8054986 PMID:8731106 PMID:8792820 More... OMIM:220100 ORPHA:163690 ORPHA:163693 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 IAGP ClinVar Annotator: match by term: Cystinuria ClinVar
HPO		 PMID:6031738 PMID:10471498 PMID:11013083 PMID:11157794 PMID:11260385 More... OMIM:220100 NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767 		JBrowse link
D-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria ClinVar
HPO		 PMID:18414213 PMID:25741868 PMID:28492532 OMIM:600721 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP HPO OMIM:613657 NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
Dark urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKR1D1 aldo-keto reductase family 1 member D1 IAGP HPO ORPHA:79303 NCBI chr 7:138,076,459...138,118,305
Ensembl chr 7:138,002,324...138,118,305 		JBrowse link
G ATP11C ATPase phospholipid transporting 11C IAGP HPO OMIM:301015 NCBI chr  X:139,726,348...139,936,903
Ensembl chr  X:139,726,346...139,945,276 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO ORPHA:79273 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO OMIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO OMIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		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 PYGM glycogen phosphorylase, muscle associated IAGP HPO OMIM:232600 ORPHA:368 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		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 IAGP HPO OMIM:613388 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:232220 OMIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		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
G TLR9 toll like receptor 9 susceptibility IAGP DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) RGD PMID:21908957 RGD:7246887 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G UMOD uromodulin IAGP HPO OMIM:162000 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		JBrowse link
Decreased level of erythritol in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPIA ribose 5-phosphate isomerase A IAGP HPO OMIM:608611 NCBI chr 2:88,691,673...88,750,929
Ensembl chr 2:88,691,673...88,750,929 		JBrowse link
Decreased renal tubular phosphate excretion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO OMIM:211900 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
Decreased urinary biopterin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCH1 GTP cyclohydrolase 1 IAGP HPO OMIM:233910 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
Decreased urinary neopterin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCH1 GTP cyclohydrolase 1 IAGP HPO OMIM:233910 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
Decreased urinary potassium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G SERPINA6 serpin family A member 6 IAGP HPO OMIM:611489 NCBI chr14:94,304,248...94,323,336
Ensembl chr14:94,304,248...94,323,389 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
Decreased urinary sulfate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G SUOX sulfite oxidase IAGP HPO OMIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
Decreased urinary urate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO OMIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
G PNP purine nucleoside phosphorylase IAGP HPO OMIM:613179 ORPHA:760 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
Decreased urine alpha-ketoglutarate concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO ORPHA:2203 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
Decreased urine output 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
Dermatan sulfate excretion in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSB arylsulfatase B IAGP HPO OMIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARSK arylsulfatase family member K IAGP HPO OMIM:619698 NCBI chr 5:95,555,101...95,605,102
Ensembl chr 5:95,555,101...95,605,102 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 OMIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
Diaminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 IAGP HPO OMIM:207800 ORPHA:90 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332 		JBrowse link
Dicarboxylic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD8 acyl-CoA dehydrogenase family member 8 IAGP HPO ORPHA:79159 NCBI chr11:134,253,568...134,265,855
Ensembl chr11:134,253,548...134,265,855 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO OMIM:611126 ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO ORPHA:42 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO OMIM:201475 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 IAGP HPO ORPHA:289504 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121 		JBrowse link
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO OMIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP HPO OMIM:255120 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		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 HADH hydroxyacyl-CoA dehydrogenase IAGP HPO OMIM:231530 ORPHA:71212 NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP HPO OMIM:605911 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905 		JBrowse link
G MRPL39 mitochondrial ribosomal protein L39 IAGP HPO OMIM:620646 NCBI chr21:25,585,656...25,607,859
Ensembl chr21:25,585,656...25,607,517 		JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO OMIM:614887 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP HPO OMIM:212140 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP HPO OMIM:212138 ORPHA:159 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
G SLC52A1 solute carrier family 52 member 1 IAGP HPO OMIM:615026 NCBI chr17:5,032,602...5,042,414
Ensembl chr17:5,032,600...5,052,009 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP HPO OMIM:613070 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		JBrowse link
Distal renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar
HPO		 PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 OMIM:602722 NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 2:10,720,943...10,785,110
Ensembl chr 2:10,721,100...10,785,110 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO OMIM:259730 ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		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 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 HNF1B HNF1 homeobox B IAGP HPO ORPHA:1309 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I ClinVar
HPO		 PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... OMIM:179800 OMIM:611590 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		JBrowse link
G WDR72 WD repeat domain 72 IAGP ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878 		JBrowse link
Elevated urinary 2-methyl-3-hydroxybutyric acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP HPO OMIM:203750 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603 		JBrowse link
Elevated urinary 3-hydroxybutyric acid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO ORPHA:42 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO OMIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G CA5A carbonic anhydrase 5A IAGP HPO OMIM:615751 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP HPO OMIM:605911 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 IAGP HPO OMIM:245050 NCBI chr 5:41,730,065...41,870,425
Ensembl chr 5:41,730,065...41,870,425 		JBrowse link
Elevated urinary 3-hydroxyisobutyric acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO OMIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
Elevated urinary 3-hydroxykynurenine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KYNU kynureninase IAGP HPO OMIM:236800 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833 		JBrowse link
Elevated urinary 3-methylcrotonylglycine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLCS holocarboxylase synthetase IAGP HPO OMIM:253270 NCBI chr21:36,748,625...36,990,211
Ensembl chr21:36,748,626...36,990,236 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO OMIM:246450 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 IAGP HPO OMIM:210200 NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075 		JBrowse link
Elevated urinary 4-hydroxybutyric acid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP HPO OMIM:271980 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO OMIM:619003 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase IAGP HPO OMIM:608688 NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773 		JBrowse link
Elevated urinary 7-biopterin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 IAGP HPO OMIM:264070 NCBI chr10:70,882,280...70,888,565
Ensembl chr10:70,882,280...70,888,565 		JBrowse link
Elevated urinary 7-hydroxyoctanoic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO OMIM:201450 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
Elevated urinary aminoisobutyric acid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO OMIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
Elevated urinary catecholamine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:635 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G CCND1 cyclin D1 IAGP HPO ORPHA:892 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:635 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO OMIM:256700 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LIN28B lin-28 homolog B IAGP HPO ORPHA:635 NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332 		JBrowse link
G LMO1 LIM domain only 1 IAGP HPO ORPHA:635 NCBI chr11:8,224,309...8,268,787
Ensembl chr11:8,224,309...8,268,716 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:635 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:635 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO OMIM:115310 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G TOP2A DNA topoisomerase II alpha IAGP HPO ORPHA:635 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:892 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Elevated urinary coproporphyrin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPOX coproporphyrinogen oxidase IAGP HPO OMIM:121300 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
Elevated urinary creatine/creatinine ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC6A8 solute carrier family 6 member 8 IAGP HPO OMIM:300352 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
Elevated urinary cytidine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC28A1 solute carrier family 28 member 1 IAGP HPO OMIM:618477 NCBI chr15:84,884,662...84,975,649
Ensembl chr15:84,884,654...84,945,798 		JBrowse link
Elevated urinary delta-aminolevulinic acid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase IAGP HPO OMIM:612740 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP DNA:mutations:multiple HPO
RGD		 PMID:9888388 OMIM:121300 ORPHA:79273, RGD:25671428 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO OMIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO OMIM:176000 ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO OMIM:176200 ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
Elevated urinary dihydrothymine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPYD dihydropyrimidine dehydrogenase IAGP HPO OMIM:274270 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DPYS dihydropyrimidinase IAGP HPO OMIM:222748 NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055 		JBrowse link
Elevated urinary dihydrouracil level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPYS dihydropyrimidinase IAGP HPO OMIM:222748 NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055 		JBrowse link
Elevated urinary dopamine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBH dopamine beta-hydroxylase IAGP HPO ORPHA:230 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO OMIM:256700 ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G RET ret proto-oncogene IAGP HPO OMIM:171400 ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 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:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,266,047 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Elevated urinary epinephrine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G RET ret proto-oncogene IAGP HPO OMIM:162300 OMIM:171400 ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 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:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,266,047 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Elevated urinary formiminoglutamic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTCD formimidoyltransferase cyclodeaminase IAGP HPO OMIM:229100 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
Elevated urinary gamma-glutamylphenylalanine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAH phenylalanine hydroxylase IAGP HPO OMIM:261600 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
Elevated urinary glycolic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Elevated urinary guanosine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNP purine nucleoside phosphorylase IAGP HPO OMIM:613179 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
Elevated urinary homogentisic acid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGD homogentisate 1,2-dioxygenase IAGP HPO OMIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269 		JBrowse link
Elevated urinary homovanillic acid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:635 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:635 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO OMIM:256700 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LIN28B lin-28 homolog B IAGP HPO ORPHA:635 NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332 		JBrowse link
G LMO1 LIM domain only 1 IAGP HPO ORPHA:635 NCBI chr11:8,224,309...8,268,787
Ensembl chr11:8,224,309...8,268,716 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:635 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:635 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 IAGP HPO OMIM:618049 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G TOP2A DNA topoisomerase II alpha IAGP HPO ORPHA:635 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896 		JBrowse link
Elevated urinary indoleacetic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC6A19 solute carrier family 6 member 19 IAGP HPO OMIM:234500 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
Elevated urinary inosine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNP purine nucleoside phosphorylase IAGP HPO OMIM:613179 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
Elevated urinary isovalerylglycine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IVD isovaleryl-CoA dehydrogenase IAGP HPO OMIM:243500 NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947 		JBrowse link
Elevated urinary mevalonate lactone level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO OMIM:618156 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
Elevated urinary N,N-dimethylglycine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMGDH dimethylglycine dehydrogenase IAGP HPO OMIM:605850 NCBI chr 5:78,997,564...79,069,674
Ensembl chr 5:78,997,564...79,236,038 		JBrowse link
Elevated urinary N-carbamyl-beta-aminoisobutyric acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UPB1 beta-ureidopropionase 1 IAGP HPO OMIM:613161 NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390 		JBrowse link
Elevated urinary N-tau-ribosylhistidine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAL histidine ammonia-lyase IAGP HPO OMIM:235800 NCBI chr12:95,972,662...95,996,344
Ensembl chr12:95,972,662...95,996,365 		JBrowse link
Elevated urinary norepinephrine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G MAX MYC associated factor X IAGP HPO OMIM:171300 ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G RET ret proto-oncogene IAGP HPO OMIM:171300 OMIM:171400 ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 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:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		JBrowse link
G SLC6A2 solute carrier family 6 member 2 IAGP HPO OMIM:604715 NCBI chr16:55,655,988...55,706,192
Ensembl chr16:55,655,988...55,707,645 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO OMIM:171300 ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,266,047 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO OMIM:171300 ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
Elevated urinary phenylpyruvic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAH phenylalanine hydroxylase IAGP HPO OMIM:261600 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
Elevated urinary prostaglandin E2 level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLCO2A1 solute carrier organic anion transporter family member 2A1 IAGP HPO OMIM:167100 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184 		JBrowse link
Elevated urinary pyrroline hydroxycarboxylic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP HPO OMIM:239510 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724 		JBrowse link
Elevated urinary quinolinic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A21 solute carrier family 25 member 21 IAGP HPO OMIM:618811 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606 		JBrowse link
Elevated urinary S-sulfocysteine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
Elevated urinary succinylacetone level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAH fumarylacetoacetate hydrolase IAGP HPO OMIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
Elevated urinary succinylaminoimidazole carboxamide riboside level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSL adenylosuccinate lyase IAGP HPO OMIM:103050 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463 		JBrowse link
Elevated urinary sulfatide level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCH1 GTP cyclohydrolase 1 IAGP HPO OMIM:233910 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826 		JBrowse link
Elevated urinary thymine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPYS dihydropyrimidinase IAGP HPO OMIM:222748 NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055 		JBrowse link
Elevated urinary ureidoisobutyric acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UPB1 beta-ureidopropionase 1 IAGP HPO OMIM:613161 NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390 		JBrowse link
Elevated urinary ureidopropionic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UPB1 beta-ureidopropionase 1 IAGP HPO OMIM:613161 NCBI chr22:24,495,332...24,528,390
Ensembl chr22:24,494,107...24,528,390 		JBrowse link
Elevated urinary uridine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC28A1 solute carrier family 28 member 1 IAGP HPO OMIM:618477 NCBI chr15:84,884,662...84,975,649
Ensembl chr15:84,884,654...84,945,798 		JBrowse link
Elevated urinary vanillylmandelic acid term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:635 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 IAGP HPO ORPHA:635 NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO OMIM:256700 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LIN28B lin-28 homolog B IAGP HPO ORPHA:635 NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332 		JBrowse link
G LMO1 LIM domain only 1 IAGP HPO ORPHA:635 NCBI chr11:8,224,309...8,268,787
Ensembl chr11:8,224,309...8,268,716 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO ORPHA:635 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G PHOX2B paired like homeobox 2B IAGP HPO ORPHA:635 NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725 		JBrowse link
G RET ret proto-oncogene IAGP HPO OMIM:171400 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G TOP2A DNA topoisomerase II alpha IAGP HPO ORPHA:635 NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896 		JBrowse link
Elevated urinary xanthurenic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KYNU kynureninase IAGP HPO OMIM:236800 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833 		JBrowse link
Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECHS1 enoyl-CoA hydratase, short chain 1 IAGP HPO OMIM:616277 NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354 		JBrowse link
Elevated urine 2-methylcitric acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMAA metabolism of cobalamin associated A IAGP HPO OMIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033 		JBrowse link
Elevated urine 3-hydroxypropionic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMAA metabolism of cobalamin associated A IAGP HPO OMIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033 		JBrowse link
Elevated urine 3-methyladipic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO OMIM:618156 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
Elevated urine acetoacetic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA5A carbonic anhydrase 5A IAGP HPO OMIM:615751 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:620089 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
Elevated urine D-lactate level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LDHD lactate dehydrogenase D IAGP HPO OMIM:245450 NCBI chr16:75,111,864...75,116,780
Ensembl chr16:75,111,860...75,116,780 		JBrowse link
Elevated urine fumaric acid level 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
Elevated urine mesaconic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 IAGP HPO OMIM:618156 NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,395 		JBrowse link
Elevated urine mevalonic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MVK mevalonate kinase IAGP HPO OMIM:260920 OMIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
Elevated urine N-acetylaspartic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASPA aspartoacylase IAGP HPO OMIM:271900 ORPHA:314911 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 IAGP HPO OMIM:618384 NCBI chr20:46,557,828...46,684,485
Ensembl chr20:46,557,823...46,684,467 		JBrowse link
Elevated urine N-acetyltyrosine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAT tyrosine aminotransferase IAGP HPO OMIM:276600 NCBI chr16:71,565,660...71,577,092
Ensembl chr16:71,565,660...71,577,092 		JBrowse link
Elevated urine pyrophosphate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:241500 OMIM:241510 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
Elevated urine suberic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA5A carbonic anhydrase 5A IAGP HPO OMIM:615751 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP HPO OMIM:248360 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445 		JBrowse link
Elevated urine trihydroxycholestanoic acid level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO OMIM:266510 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863 		JBrowse link
Ethylmalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADS acyl-CoA dehydrogenase short chain IAGP HPO OMIM:201470 ORPHA:26792 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO OMIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha IAGP HPO OMIM:231680 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP HPO OMIM:231680 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP HPO OMIM:231680 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP HPO OMIM:602473 ORPHA:51188 NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP HPO OMIM:612233 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:203700 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		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
Exercise-induced myoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO OMIM:201475 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:352479 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:607155 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		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 ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		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 PFKM phosphofructokinase, muscle IAGP HPO OMIM:232800 NCBI chr12:48,105,353...48,146,404
Ensembl chr12:48,105,139...48,146,404 		JBrowse link
G PGK1 phosphoglycerate kinase 1 IAGP HPO OMIM:300653 NCBI chr  X:78,104,248...78,129,295
Ensembl chr  X:77,910,739...78,129,295 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 IAGP HPO OMIM:300559 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319 		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
Foamy urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 IAGP HPO ORPHA:656 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		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 HPO ORPHA:656 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		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 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 HPO ORPHA:656 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378 		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 COL4A3 collagen type IV alpha 3 chain IAGP HPO ORPHA:656 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		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 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 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 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 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 INF2 inverted formin 2 IAGP HPO ORPHA:656 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		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 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 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 HPO ORPHA:656 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		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 PAX2 paired box 2 IAGP HPO ORPHA:656 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		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 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 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 TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP HPO ORPHA:656 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:656 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Galactosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP2 forkhead box P2 IAGP HPO ORPHA:251061 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GALE UDP-galactose-4-epimerase IAGP HPO OMIM:230350 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781 		JBrowse link
G GALK1 galactokinase 1 IAGP HPO OMIM:230200 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO OMIM:230400 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
G SKIC3 SKI3 subunit of superkiller complex IAGP HPO OMIM:222470 NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050 		JBrowse link
Generalized aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP HPO OMIM:264700 ORPHA:289157 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP HPO ORPHA:289157 NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO OMIM:251880 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
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 ETFA electron transfer flavoprotein subunit alpha IAGP HPO OMIM:231680 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP HPO OMIM:231680 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP HPO OMIM:231680 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO ORPHA:882 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		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 NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO OMIM:227810 ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:613388 ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
Glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 APOL1 apolipoprotein L1 IAGP ClinVar Annotator: match by term: Glomerulonephritis ClinVar PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More... NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO OMIM:614380 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CD81 CD81 molecule IAGP HPO OMIM:613496 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Glomerular nephritis 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 CFHR5 complement factor H related 5 IAGP HPO OMIM:614809 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 HPO OMIM:610984 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP HPO OMIM:104200 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: Glomerulonephritis ClinVar PMID:12325029 PMID:17216251 PMID:20301386 PMID:21196518 PMID:24052634 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		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 FAS Fas cell surface death receptor IAGP HPO ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP DNA:missense mutation:cds:p.H131R RGD PMID:15004265 RGD:5147975 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO OMIM:304790 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DRB1*1501 (human) RGD PMID:12651073 RGD:40902999 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Glomerulonephritis ClinVar PMID:25741868 PMID:28492532 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Glomerulonephritis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO ORPHA:69063 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		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 MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Glomerulonephritis ClinVar PMID:25741868 PMID:28492532 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Glomerular nephritis ClinVar PMID:25741868 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP ClinVar Annotator: match by term: Glomerular nephritis ClinVar PMID:25741868 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		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
G SOCS1 suppressor of cytokine signaling 1 IAGP HPO OMIM:619375 NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO OMIM:619428 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		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
Glutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP HPO OMIM:600721 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha IAGP HPO OMIM:231680 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP HPO OMIM:231680 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP HPO OMIM:231680 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO OMIM:231670 ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO OMIM:246450 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase IAGP HPO OMIM:231690 ORPHA:35706 NCBI chr 7:40,135,005...41,038,816
Ensembl chr 7:40,135,005...40,860,763 		JBrowse link
Glutathionuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GGT1 gamma-glutamyltransferase 1 IAGP ClinVar Annotator: match by term: Glutathionuria ClinVar
HPO		 PMID:25741868 OMIM:231950 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005 		JBrowse link
Glycopeptiduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUCA1 alpha-L-fucosidase 1 IAGP HPO OMIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
Glycosuria 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 OMIM:618857 ORPHA:552 ORPHA:99885 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO OMIM:229600 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664 		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 ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		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 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 CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:308990 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 ORPHA:411629 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO OMIM:615605 ORPHA:3337 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G ETFA electron transfer flavoprotein subunit alpha IAGP HPO OMIM:231680 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP HPO OMIM:231680 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP HPO OMIM:231680 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO OMIM:614817 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO OMIM:600001 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO OMIM:134600 ORPHA:3337 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GYS2 glycogen synthase 2 IAGP HPO ORPHA:2089 NCBI chr12:21,532,577...21,604,847
Ensembl chr12:21,536,107...21,604,847 		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 ClinVar Annotator: match by term: Glycosuria ClinVar
HPO		 PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 More... OMIM:616026 ORPHA:263455 ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G INS insulin IAGP HPO ORPHA:552 ORPHA:99885 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:552 ORPHA:99885 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		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 LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO OMIM:618913 ORPHA:3337 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		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 NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO OMIM:617253 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120 		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 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 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 PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		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 RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO OMIM:268315 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SLC16A12 solute carrier family 16 member 12 IAGP HPO OMIM:612018 NCBI chr10:89,430,299...89,556,704
Ensembl chr10:89,430,299...89,556,641 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO OMIM:227810 ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:613388 ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC5A1 solute carrier family 5 member 1 IAGP HPO OMIM:606824 NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029 		JBrowse link
G SLC5A2 solute carrier family 5 member 2 IAGP HPO OMIM:233100 ORPHA:69076 NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G TRMT5 tRNA methyltransferase 5 IAGP HPO OMIM:616539 NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP HPO OMIM:613404 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
Green urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLVRA biliverdin reductase A IAGP HPO OMIM:614156 NCBI chr 7:43,758,122...43,807,342
Ensembl chr 7:43,758,680...43,807,342 		JBrowse link
Hawkinsinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPD 4-hydroxyphenylpyruvate dioxygenase IAGP ClinVar Annotator: match by term: Hawkinsinuria ClinVar
HPO		 PMID:858207 PMID:1130176 PMID:1519651 PMID:9536098 PMID:10942115 More... OMIM:140350 NCBI chr12:121,839,527...121,888,611
Ensembl chr12:121,839,527...121,863,596 		JBrowse link
G LOC126861662 MED14-independent group 3 enhancer GRCh37_chr12:122293687-122294886 IAGP ClinVar Annotator: match by term: Hawkinsinuria ClinVar PMID:10942115 PMID:23036342 PMID:25741868 PMID:28492532 PMID:32109208 NCBI chr12:121,855,781...121,856,980 JBrowse link
G LOC130009013 ATAC-STARR-seq lymphoblastoid silent region 5000 IAGP ClinVar Annotator: match by term: Hawkinsinuria ClinVar NCBI chr12:121,839,481...121,839,680 JBrowse link
Heavy proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 RGD PMID:14758530 RGD:6907374 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
Hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme disease_progression IAGP DNA:deletion:intron:IVS16+1464-1751del RGD PMID:15315169 RGD:11038920 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
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 ACVRL1 activin A receptor like type 1 IAGP HPO ORPHA:774 NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361 		JBrowse link
G AGGF1 angiogenic factor with G-patch and FHA domains 1 IAGP HPO ORPHA:90308 NCBI chr 5:77,030,404...77,065,234
Ensembl chr 5:77,029,251...77,065,234 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO OMIM:259900 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 APOA1 apolipoprotein A1 IAGP HPO OMIM:105200 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APRT adenine phosphoribosyltransferase IAGP HPO OMIM:614723 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937 		JBrowse link
G B2M beta-2-microglobulin IAGP HPO OMIM:105200 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:520 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		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 BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:654 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		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 C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CD109 CD109 molecule IAGP HPO ORPHA:853 NCBI chr 6:73,679,192...73,828,313
Ensembl chr 6:73,695,785...73,828,316 		JBrowse link
G CD2AP CD2 associated protein IAGP HPO OMIM:607832 NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263 		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:609814 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		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 CLCNKB chloride voltage-gated channel Kb IAGP ClinVar Annotator: match by term: High urine occult blood
ClinVar Annotator: match by term: Hematuria		 ClinVar PMID:24830959 PMID:25741868 PMID:26920127 PMID:28381550 PMID:28492532 More... 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 ORPHA:2196 NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254 		JBrowse link
G CLEC7A C-type lectin domain containing 7A IAGP HPO ORPHA:1334 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO OMIM:611773 ORPHA:73229 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Hematuria ClinVar
HPO		 PMID:8956999 PMID:16199547 PMID:24052634 PMID:24854265 PMID:25307543 More... OMIM:104200 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: Hematuria ClinVar
HPO		 PMID:17396119 PMID:24033287 PMID:24052634 PMID:24854265 PMID:25741868 More... OMIM:141200 OMIM:203780 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 ClinVar Annotator: match by term: Hematuria ClinVar
HPO		 PMID:9150741 PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 More... 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 CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human) HPO
RGD		 PMID:22700162 ORPHA:536 ORPHA:900, RGD:11344910 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G DIS3L2 DIS3 like 3'-5' exoribonuclease 2 IAGP HPO ORPHA:654 NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350 		JBrowse link
G DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		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 DNASE1 deoxyribonuclease 1 IAGP HPO ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO OMIM:616901 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G ENG endoglin IAGP HPO ORPHA:774 NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G F10 coagulation factor X IAGP HPO ORPHA:328 NCBI chr13:113,122,799...113,149,529
Ensembl chr13:113,122,799...113,149,529 		JBrowse link
G F5 coagulation factor V IAGP HPO ORPHA:326 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169805 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G F9 coagulation factor IX IAGP HPO OMIM:306900 NCBI chr  X:139,530,739...139,563,459
Ensembl chr  X:139,530,739...139,563,459 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO OMIM:614817 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FCGR2C Fc gamma receptor IIc (gene/pseudogene) IAGP HPO ORPHA:3002 NCBI chr 1:161,581,339...161,601,220
Ensembl chr 1:161,581,339...161,605,662 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G FGA fibrinogen alpha chain IAGP HPO OMIM:105200 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP HPO ORPHA:520 NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,569...53,464,382 		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 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 GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77259 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GDF2 growth differentiation factor 2 IAGP HPO ORPHA:774 NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588 		JBrowse link
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 GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO ORPHA:853 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:853 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:654 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		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 H19 H19 imprinted maternally expressed transcript IAGP HPO ORPHA:654 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO OMIM:603903 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO
RGD		 PMID:21569485 ORPHA:900, RGD:5147561 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO
RGD		 PMID:21569485 ORPHA:397 ORPHA:536, RGD:5147561 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO OMIM:614034 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:1309 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		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 HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO ORPHA:510 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 ORPHA:730 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL17F interleukin 17F IAGP HPO ORPHA:1334 NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689 		JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO ORPHA:1334 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP HPO ORPHA:1334 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 RGD PMID:9186886 RGD:6909151 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP HPO ORPHA:520 NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G ITGA2 integrin subunit alpha 2 IAGP HPO ORPHA:853 NCBI chr 5:52,989,352...53,094,779
Ensembl chr 5:52,989,340...53,094,779 		JBrowse link
G ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:853 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGA6 integrin subunit alpha 6 IAGP HPO ORPHA:79403 NCBI chr 2:172,427,336...172,506,459
Ensembl chr 2:172,234,216...172,506,459 		JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:853 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:79403 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 IAGP HPO OMIM:617783 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:617021 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LMAN1 lectin, mannose binding 1 IAGP HPO ORPHA:35909 NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265 		JBrowse link
G LMNB2 lamin B2 IAGP HPO OMIM:608709 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: High urine occult blood
ClinVar Annotator: match by term: Hematuria		 ClinVar PMID:24830959 PMID:25741868 PMID:26920127 PMID:28381550 PMID:28492532 More... NCBI chr 1:16,044,593...16,059,459 JBrowse link
G LYZ lysozyme IAGP HPO OMIM:105200 NCBI chr12:69,348,381...69,354,234
Ensembl chr12:69,348,381...69,354,234 		JBrowse link
G MAX MYC associated factor X IAGP HPO ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MCFD2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit IAGP HPO ORPHA:35909 NCBI chr 2:46,901,870...46,941,855
Ensembl chr 2:46,901,870...46,941,855 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Hematuria ClinVar PMID:8956999 PMID:16199547 PMID:24052634 PMID:24854265 PMID:25307543 More... NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		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 MYO1E myosin IE IAGP HPO OMIM:614131 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP HPO ORPHA:520 NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO OMIM:610205 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO OMIM:604387 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:520 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP HPO ORPHA:520 NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO OMIM:618349 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G NUP93 nucleoporin 93 IAGP HPO OMIM:616892 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 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		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 PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PFKM phosphofructokinase, muscle IAGP HPO OMIM:232800 NCBI chr12:48,105,353...48,146,404
Ensembl chr12:48,105,139...48,146,404 		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 PML PML nuclear body scaffold IAGP HPO ORPHA:520 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827 		JBrowse link
G POU6F2 POU class 6 homeobox 2 IAGP HPO ORPHA:654 NCBI chr 7:38,977,909...39,468,601
Ensembl chr 7:38,977,909...39,493,095 		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 PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:520 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 ORPHA:536 ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127 		JBrowse link
G RARA retinoic acid receptor alpha IAGP HPO ORPHA:520 NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643 		JBrowse link
G REST RE1 silencing transcription factor IAGP HPO ORPHA:654 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO ORPHA:77259 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 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:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SERPINF2 serpin family F member 2 IAGP HPO ORPHA:79 NCBI chr17:1,742,871...1,755,265
Ensembl chr17:1,742,836...1,755,265 		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 SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		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 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 SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC5A1 solute carrier family 5 member 1 IAGP HPO ORPHA:35710 NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:774 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 IAGP HPO OMIM:616818 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO OMIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 IAGP HPO OMIM:158310 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:520 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP HPO ORPHA:520 NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO OMIM:185070 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO ORPHA:520 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		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 TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,266,047 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP HPO ORPHA:1334 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:192315 ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRIM28 tripartite motif containing 28 IAGP HPO ORPHA:654 NCBI chr19:58,544,064...58,550,715
Ensembl chr19:58,544,064...58,550,722 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:654 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:538 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:538 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP HPO OMIM:258900 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G VWF von Willebrand factor IAGP ClinVar Annotator: match by term: Hematuria ClinVar NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:654 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP HPO OMIM:120433 ORPHA:1473 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP HPO ORPHA:520 NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765 		JBrowse link
Hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO OMIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO OMIM:300908 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CD46 CD46 molecule IAGP HPO ORPHA:244242 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		JBrowse link
G CFH complement factor H IAGP HPO ORPHA:244242 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		JBrowse link
G CFI complement factor I IAGP HPO ORPHA:244242 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase IAGP HPO OMIM:300908 NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		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 NT5C3A 5'-nucleotidase, cytosolic IIIA IAGP HPO OMIM:266120 NCBI chr 7:33,014,113...33,062,776
Ensembl chr 7:33,014,130...33,062,796 		JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 (Er blood group) IAGP HPO OMIM:194380 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220 		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
Hemolytic-uremic syndrome 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 C1GALT1C1 C1GALT1 specific chaperone 1 IAGP HPO OMIM:301110 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		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 COG1 component of oligomeric golgi complex 1 IAGP HPO OMIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar
HPO		 PMID:25854283 OMIM:615008 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO OMIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		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 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 TMEM165 transmembrane protein 165 IAGP HPO OMIM:614727 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP ClinVar Annotator: match by term: Hemolytic-uremic syndrome ClinVar PMID:34964109 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549 		JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426 		JBrowse link
Hemosiderinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF23 kinesin family member 23 IAGP HPO OMIM:105600 NCBI chr15:69,414,349...69,448,427
Ensembl chr15:69,414,246...69,448,427 		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
Heparan sulfate excretion in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP HPO OMIM:252930 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 ORPHA:217085 ORPHA:217093 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 OMIM:607015 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP HPO OMIM:252920 NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO OMIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase IAGP HPO OMIM:252900 NCBI chr17:80,200,673...80,220,333
Ensembl chr17:80,206,716...80,220,923 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
Histidinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HAL histidine ammonia-lyase IAGP HPO OMIM:235800 ORPHA:2157 NCBI chr12:95,972,662...95,996,344
Ensembl chr12:95,972,662...95,996,365 		JBrowse link
Homocitrullinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO OMIM:238700 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 IAGP HPO OMIM:238970 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460 		JBrowse link
Homocystinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO OMIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO OMIM:601552 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640 		JBrowse link
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: High urine homocystine levels		 ClinVar
HPO		 PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 More... OMIM:236200 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G HCFC1 host cell factor C1 IAGP HPO OMIM:309541 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO OMIM:277380 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ClinVar Annotator: match by term: Homocystinuria ClinVar
HPO		 PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... OMIM:277400 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MMADHC metabolism of cobalamin associated D IAGP HPO OMIM:277410 NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO OMIM:236250 ORPHA:395 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP ClinVar Annotator: match by term: Homocystinuria ClinVar
HPO		 PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... OMIM:250940 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO OMIM:236270 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		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
Hydroxyprolinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP HPO OMIM:239510 ORPHA:79101 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO OMIM:609220 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PRODH proline dehydrogenase 1 IAGP HPO OMIM:239500 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553 		JBrowse link
G SLC36A2 solute carrier family 36 member 2 IAGP HPO OMIM:242600 ORPHA:42062 NCBI chr 5:151,314,972...151,347,559
Ensembl chr 5:151,314,972...151,347,590 		JBrowse link
G SLC6A18 solute carrier family 6 member 18 IAGP HPO ORPHA:42062 NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP HPO ORPHA:42062 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 IAGP HPO ORPHA:42062 NCBI chr 3:45,755,449...45,796,536
Ensembl chr 3:45,755,449...45,796,574 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO OMIM:174810 OMIM:602080 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO OMIM:239000 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
Hypercalciuria 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 ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:241500 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO OMIM:300990 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 IAGP HPO OMIM:602722 NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
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 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 BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		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 CASR calcium sensing receptor IAGP HPO OMIM:145980 OMIM:239200 OMIM:601198 ORPHA:428 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 ORPHA:99879 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO OMIM:614732 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO OMIM:219700 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 OMIM:308990 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 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 CYP24A1 cytochrome P450 family 24 subfamily A member 1 IAGP HPO OMIM:143880 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		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 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 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 OMIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:219700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO OMIM:617993 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		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 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 GCM2 glial cells missing transcription factor 2 IAGP HPO ORPHA:2239 ORPHA:99879 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:428 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		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 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO OMIM:181000 ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:1309 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G INSR insulin receptor IAGP HPO ORPHA:508 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO OMIM:613677 ORPHA:251274 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		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 MAGED2 MAGE family member D2 IAGP HPO OMIM:300971 NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:652 ORPHA:99879 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		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 OMIM:194050 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 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 OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:300555 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO OMIM:615398 ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO OMIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:156400 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		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 SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		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 SLC2A2 solute carrier family 2 member 2 IAGP HPO OMIM:227810 ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		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 OMIM:612286 OMIM:613388 OMIM:616963 ORPHA:157215 ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP ClinVar Annotator: match by term: Hypercalciuria ClinVar
HPO		 OMIM:241530 ORPHA:157215 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		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 TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:219700 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		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 TNFRSF11B TNF receptor superfamily member 11b IAGP HPO OMIM:239000 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		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
Hyperchloriduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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:607364 OMIM:613090 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
Hypercitraturia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Hyperglutaminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LIPT1 lipoyltransferase 1 IAGP HPO OMIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
Hyperglycinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO OMIM:201450 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP HPO OMIM:239510 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724 		JBrowse link
G GLDC glycine decarboxylase IAGP HPO OMIM:605899 NCBI chr 9:6,532,467...6,645,729
Ensembl chr 9:6,532,467...6,645,729 		JBrowse link
G GLYCTK glycerate kinase IAGP HPO ORPHA:941 NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257 		JBrowse link
G IVD isovaleryl-CoA dehydrogenase IAGP HPO OMIM:243500 NCBI chr15:40,405,795...40,435,947
Ensembl chr15:40,405,485...40,435,947 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 IAGP HPO OMIM:210210 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO OMIM:605711 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO OMIM:606054 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO OMIM:606054 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PRODH proline dehydrogenase 1 IAGP HPO OMIM:239500 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553 		JBrowse link
G SLC36A1 solute carrier family 36 member 1 IAGP ClinVar Annotator: match by term: Hyperglycinuria ClinVar PMID:19033659 NCBI chr 5:151,344,596...151,556,085
Ensembl chr 5:151,437,046...151,492,379 		JBrowse link
G SLC36A2 solute carrier family 36 member 2 IAGP ClinVar Annotator: match by term: High urine glycine levels
ClinVar Annotator: match by term: Hyperglycinuria		 ClinVar
HPO		 PMID:19033659 PMID:25741868 PMID:28492532 OMIM:138500 OMIM:242600 ORPHA:42062 NCBI chr 5:151,314,972...151,347,559
Ensembl chr 5:151,314,972...151,347,590 		JBrowse link
G SLC6A18 solute carrier family 6 member 18 IAGP HPO ORPHA:42062 NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP ClinVar Annotator: match by term: Hyperglycinuria ClinVar
HPO		 PMID:9536098 PMID:15286787 PMID:15286788 PMID:16199547 PMID:17555458 More... ORPHA:42062 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 IAGP ClinVar Annotator: match by term: Hyperglycinuria ClinVar
HPO		 PMID:19033659 PMID:25741868 PMID:28492532 ORPHA:42062 NCBI chr 3:45,755,449...45,796,536
Ensembl chr 3:45,755,449...45,796,574 		JBrowse link
Hyperimidodipeptiduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEPD peptidase D IAGP HPO OMIM:170100 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
Hyperlysinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO OMIM:238700 ORPHA:2203 ORPHA:3124 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO OMIM:616034 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP HPO OMIM:220100 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO OMIM:222700 ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 IAGP HPO OMIM:220100 NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767 		JBrowse link
Hypermagnesiuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor IAGP HPO ORPHA:428 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		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 GNA11 G protein subunit alpha 11 IAGP HPO ORPHA:428 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
Hypernatriuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVPR2 arginine vasopressin receptor 2 IAGP HPO OMIM:300539 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		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 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 CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G MC2R melanocortin 2 receptor IAGP HPO ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G NNT nicotinamide nucleotide transhydrogenase IAGP HPO ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G STAR steroidogenic acute regulatory protein IAGP HPO ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
Hyperoxaluria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate aminotransferase IAGP HPO OMIM:259900 ORPHA:93598 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP HPO OMIM:260000 ORPHA:93599 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		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: Hyperoxaluria ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G OXGR1 oxoglutarate receptor 1 IAGP HPO OMIM:620374 NCBI chr13:96,985,713...96,994,730
Ensembl chr13:96,985,713...96,994,730 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO OMIM:601539 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 IAGP ClinVar Annotator: match by term: Hyperoxaluria ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:167030 NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440 		JBrowse link
G SLC26A6 solute carrier family 26 member 6 IAGP ClinVar Annotator: match by term: Hyperoxaluria ClinVar PMID:25741868 NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493 		JBrowse link
G SLC26A7 solute carrier family 26 member 7 IAGP ClinVar Annotator: match by term: Hyperoxaluria ClinVar PMID:25741868 NCBI chr 8:91,209,496...91,398,155
Ensembl chr 8:91,209,494...91,398,155 		JBrowse link
Hyperphosphaturia 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 ALDOB aldolase, fructose-bisphosphate B IAGP HPO OMIM:229600 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G CASR calcium sensing receptor IAGP HPO OMIM:239200 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:99879 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 ORPHA:411629 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
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 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO OMIM:615605 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO OMIM:613312 ORPHA:289176 ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FGF23 fibroblast growth factor 23 IAGP HPO ORPHA:89937 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO OMIM:134600 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO ORPHA:99879 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO OMIM:616026 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:99879 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G NHERF1 NHERF family PDZ scaffold protein 1 IAGP HPO OMIM:612287 NCBI chr17:74,748,628...74,769,353
Ensembl chr17:74,748,628...74,769,353 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO OMIM:163200 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO OMIM:156400 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO OMIM:227810 ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:612286 ORPHA:157215 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP HPO ORPHA:157215 NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
Hyperprostaglandinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
Hypersarcosinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SARDH sarcosine dehydrogenase IAGP HPO ORPHA:3129 NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955 		JBrowse link
Hyperthreoninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY2D guanylate cyclase 2D, retinal IAGP HPO OMIM:204000 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
Hyperuricosuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO OMIM:229600 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664 		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 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 HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO OMIM:300322 OMIM:300323 ORPHA:79233 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		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 PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO OMIM:300661 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 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 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
Hypocalciuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP HPO OMIM:600740 NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		JBrowse link
G CASR calcium sensing receptor IAGP DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W
ClinVar Annotator: match by term: Hypocalciuria		 ClinVar
HPO
RGD		 PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... OMIM:145980, RGD:1600616 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO OMIM:607364 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G CLDN10 claudin 10 IAGP HPO OMIM:617671 NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759 		JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO ORPHA:1031 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP HPO OMIM:154020 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO OMIM:145981 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) HPO
RGD		 PMID:19420365 OMIM:612780, RGD:8662866 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO OMIM:263800 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
Hypocitraturia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OXGR1 oxoglutarate receptor 1 IAGP HPO OMIM:620374 NCBI chr13:96,985,713...96,994,730
Ensembl chr13:96,985,713...96,994,730 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP DNA:mutations:exons: RGD PMID:23561848 RGD:13506826 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G VDR vitamin D receptor IAGP associated with Nephrolithiasis, Calcium Oxalate;DNA:polymorphisms: : RGD PMID:12542560 RGD:13210762 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048 		JBrowse link
Hypophosphaturia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO ORPHA:1031 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
Hyposthenuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 IAGP HPO ORPHA:223 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO OMIM:615926 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP HPO OMIM:300539 ORPHA:223 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:308990 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		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 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO OMIM:256100 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
Impaired renal concentrating ability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta IAGP HPO OMIM:602522 ORPHA:89938 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO OMIM:610188 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		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 FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO OMIM:204690 ORPHA:1031 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO OMIM:266900 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
Impaired renal tubular reabsorption of bicarbonate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Impaired renal tubular reabsorption of chloride term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCNKB chloride voltage-gated channel Kb IAGP HPO OMIM:607364 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
Impaired renal tubular reabsorption of magnesium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP HPO OMIM:613882 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222 		JBrowse link
Impaired renal tubular reabsorption of phosphate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATM glycine amidinotransferase IAGP HPO OMIM:134600 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
Impaired renal uric acid clearance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Impaired urinary acidification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO OMIM:179800 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
Increased glomerular filtration rate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFR methylenetetrahydrofolate reductase IAGP DNA:SNP: :677C>T(human) RGD PMID:25664255 RGD:14696732 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
Increased level of 3-hydroxy-3-methylglutaric acid in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO OMIM:246450 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
Increased level of D-threitol in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPIA ribose 5-phosphate isomerase A IAGP HPO OMIM:608611 NCBI chr 2:88,691,673...88,750,929
Ensembl chr 2:88,691,673...88,750,929 		JBrowse link
Increased level of galactitol in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALK1 galactokinase 1 IAGP HPO ORPHA:79237 NCBI chr17:75,751,469...75,765,192
Ensembl chr17:75,751,594...75,765,236 		JBrowse link
G GALT galactose-1-phosphate uridylyltransferase IAGP HPO OMIM:230400 NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035 		JBrowse link
Increased level of gamma-aminobutyric acid in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 IAGP HPO OMIM:271980 NCBI chr 6:24,494,969...24,537,207
Ensembl chr 6:24,494,867...24,537,207 		JBrowse link
Increased level of hippuric acid in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP HPO OMIM:248600 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO OMIM:246450 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G PAH phenylalanine hydroxylase IAGP HPO OMIM:261600 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO OMIM:606054 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO OMIM:606054 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
Increased level of L-fucose in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1B activin A receptor type 1B IAGP HPO OMIM:260350 NCBI chr12:51,951,699...51,997,078
Ensembl chr12:51,951,699...51,997,078 		JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO OMIM:613659 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239 		JBrowse link
G CASP10 caspase 10 IAGP HPO OMIM:613659 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP HPO OMIM:613659 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:613659 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G IL1B interleukin 1 beta IAGP HPO OMIM:613659 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 IAGP HPO OMIM:613659 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IRF1 interferon regulatory factor 1 IAGP HPO OMIM:613659 NCBI chr 5:132,481,609...132,490,773
Ensembl chr 5:132,440,440...132,508,719 		JBrowse link
G KLF6 KLF transcription factor 6 IAGP HPO OMIM:613659 NCBI chr10:3,775,996...3,785,209
Ensembl chr10:3,775,996...3,785,281 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO OMIM:260350 OMIM:613659 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT18 keratin 18 IAGP HPO OMIM:215600 NCBI chr12:52,948,855...52,952,906
Ensembl chr12:52,948,871...52,952,906 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP HPO OMIM:613659 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:613659 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO OMIM:260350 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G STK11 serine/threonine kinase 11 IAGP HPO OMIM:260350 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431 		JBrowse link
G TP53 tumor protein p53 IAGP HPO OMIM:260350 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Increased level of L-pyroglutamic acid in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSS glutathione synthetase IAGP HPO OMIM:231900 OMIM:266130 NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027 		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
Increased level of methylsuccinic acid in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADS acyl-CoA dehydrogenase short chain IAGP HPO ORPHA:26792 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
Increased level of N-acetylneuraminic acid in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO OMIM:269921 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
Increased level of ribitol in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPIA ribose 5-phosphate isomerase A IAGP HPO OMIM:608611 NCBI chr 2:88,691,673...88,750,929
Ensembl chr 2:88,691,673...88,750,929 		JBrowse link
Increased level of ribose in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPIA ribose 5-phosphate isomerase A IAGP HPO OMIM:608611 NCBI chr 2:88,691,673...88,750,929
Ensembl chr 2:88,691,673...88,750,929 		JBrowse link
G TKT transketolase IAGP HPO ORPHA:488618 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052 		JBrowse link
Increased level of xylitol in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPIA ribose 5-phosphate isomerase A IAGP HPO OMIM:608611 NCBI chr 2:88,691,673...88,750,929
Ensembl chr 2:88,691,673...88,750,929 		JBrowse link
Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP HPO OMIM:225400 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538 		JBrowse link
Increased renal tubular phosphate reabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO OMIM:211900 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201 		JBrowse link
Increased urinary 8-oxo-7,8-dihydroguanosine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP HPO OMIM:613630 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
Increased urinary copper concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
Increased urinary disaccharide excretion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MANBA mannosidase beta IAGP HPO OMIM:248510 NCBI chr 4:102,630,770...102,760,968
Ensembl chr 4:102,630,770...102,760,994 		JBrowse link
Increased urinary galactosylated oligosaccharide term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
Increased urinary glycerol term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBP1 fructose-bisphosphatase 1 IAGP HPO OMIM:229700 ORPHA:348 NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,249 		JBrowse link
G GK glycerol kinase IAGP HPO OMIM:307030 NCBI chr  X:30,653,423...30,731,462
Ensembl chr  X:30,653,359...30,731,462 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO ORPHA:247598 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
Increased urinary hypoxanthine level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOCOS molybdenum cofactor sulfurase IAGP HPO OMIM:603592 NCBI chr18:36,187,497...36,272,157
Ensembl chr18:36,187,497...36,272,157 		JBrowse link
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO OMIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
Increased urinary N-acetylglucosamine-rich oligosaccharide level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEXB hexosaminidase subunit beta IAGP HPO OMIM:268800 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
Increased urinary O-linked sialopeptides term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAGA alpha-N-acetylgalactosaminidase IAGP HPO OMIM:609241 OMIM:609242 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO OMIM:256550 ORPHA:812 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
Increased urinary porphobilinogen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase IAGP HPO ORPHA:100924 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP DNA:mutations:multiple HPO
RGD		 PMID:9888388 OMIM:121300 OMIM:618892 ORPHA:79273, RGD:25671428 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:79277 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO OMIM:176200 ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO ORPHA:79277 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
Increased urinary potassium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta IAGP HPO OMIM:602522 ORPHA:89938 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP HPO OMIM:613090 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 OMIM:607364 OMIM:613090 ORPHA:89938 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
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 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		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 SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		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
Increased urinary sedoheptulose term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHPK sedoheptulokinase IAGP HPO OMIM:617213 NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250 		JBrowse link
Increased urinary sulfate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A1 solute carrier family 26 member 1 IAGP HPO OMIM:620372 NCBI chr 4:978,991...993,404
Ensembl chr 4:979,073...993,440 		JBrowse link
Increased urinary sulfite level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO OMIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
G SUOX sulfite oxidase IAGP HPO OMIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
Increased urinary taurine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPHN gephyrin IAGP HPO OMIM:615501 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO OMIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
Increased urinary thiosulfate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
Increased urinary type 1 collagen N-terminal telopeptide level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93315 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G FN1 fibronectin 1 IAGP HPO ORPHA:93315 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO OMIM:615923 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
Increased urine alpha-ketoglutarate concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP HPO ORPHA:79101 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO OMIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G DLD dihydrolipoamide dehydrogenase IAGP HPO ORPHA:2394 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 IAGP HPO ORPHA:35878 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO OMIM:605711 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO OMIM:618580 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO OMIM:619224 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 IAGP HPO OMIM:618384 NCBI chr20:46,557,828...46,684,485
Ensembl chr20:46,557,823...46,684,467 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO OMIM:615182 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO OMIM:220500 ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TPK1 thiamin pyrophosphokinase 1 IAGP HPO OMIM:614458 NCBI chr 7:144,451,941...144,836,437
Ensembl chr 7:144,451,941...144,836,395 		JBrowse link
Increased urine deoxypyridinoline level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO OMIM:239000 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
Increased urine harderoporphyrin level term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPOX coproporphyrinogen oxidase IAGP HPO OMIM:618892 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
Increased urine succinate level 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 SCO1 synthesis of cytochrome C oxidase 1 IAGP HPO OMIM:619048 NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375 		JBrowse link
G SLC13A3 solute carrier family 13 member 3 IAGP HPO OMIM:618384 NCBI chr20:46,557,828...46,684,485
Ensembl chr20:46,557,823...46,684,467 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO OMIM:615182 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
Isothenuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP HPO OMIM:611590 NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
Keratan sulfate excretion in urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:485 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:253000 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO OMIM:253010 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:423461 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO OMIM:615273 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
Ketonuria 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 OMIM:618857 ORPHA:99885 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 IAGP HPO ORPHA:134 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603 		JBrowse link
G CA5A carbonic anhydrase 5A IAGP HPO OMIM:615751 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
G COX14 cytochrome c oxidase assembly factor COX14 IAGP HPO OMIM:619053 NCBI chr12:50,112,236...50,120,453
Ensembl chr12:50,112,082...50,120,457 		JBrowse link
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO OMIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP HPO OMIM:255120 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CYC1 cytochrome c1 IAGP HPO OMIM:615453 NCBI chr 8:144,095,076...144,097,525
Ensembl chr 8:144,095,039...144,097,525 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO OMIM:231670 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GYS2 glycogen synthase 2 IAGP HPO ORPHA:2089 NCBI chr12:21,532,577...21,604,847
Ensembl chr12:21,536,107...21,604,847 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO OMIM:246450 ORPHA:20 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 IAGP HPO OMIM:605911 NCBI chr 1:119,747,996...119,768,932
Ensembl chr 1:119,748,002...119,768,905 		JBrowse link
G INS insulin IAGP HPO ORPHA:99885 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:79644 ORPHA:99885 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO OMIM:220111 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 IAGP HPO OMIM:210200 NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 IAGP HPO OMIM:210210 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706 		JBrowse link
G MCEE methylmalonyl-CoA epimerase IAGP HPO OMIM:251120 NCBI chr 2:71,109,687...71,130,229
Ensembl chr 2:71,109,684...71,130,239 		JBrowse link
G MMAA metabolism of cobalamin associated A IAGP HPO OMIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033 		JBrowse link
G MMAB metabolism of cobalamin associated B IAGP HPO OMIM:251110 NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G OXCT1 3-oxoacid CoA-transferase 1 IAGP HPO OMIM:245050 NCBI chr 5:41,730,065...41,870,425
Ensembl chr 5:41,730,065...41,870,425 		JBrowse link
G PCK1 phosphoenolpyruvate carboxykinase 1 IAGP HPO OMIM:261680 NCBI chr20:57,561,110...57,568,121
Ensembl chr20:57,561,080...57,568,121 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO OMIM:619167 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SLC16A1 solute carrier family 16 member 1 IAGP HPO OMIM:616095 NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,593 		JBrowse link
G SLC25A13 solute carrier family 25 member 13 IAGP HPO ORPHA:247598 NCBI chr 7:96,120,220...96,322,098
Ensembl chr 7:96,120,220...96,322,147 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO OMIM:227810 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase IAGP HPO ORPHA:35706 NCBI chr 7:40,135,005...41,038,816
Ensembl chr 7:40,135,005...40,860,763 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO OMIM:616878 ORPHA:480864 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
L-2-hydroxyglutaric aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMAC2L distal membrane arm assembly component 2 like IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:26467025 More... NCBI chr14:50,311,516...50,327,957
Ensembl chr14:50,312,324...50,335,558 		JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar
HPO		 PMID:9536098 PMID:15385440 PMID:15548604 PMID:16134148 PMID:16199547 More... OMIM:236792 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229 		JBrowse link
G LINC01588 long intergenic non-protein coding RNA 1588 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:49,981,669...50,007,520
Ensembl chr14:49,927,571...50,105,102 		JBrowse link
G LINC01599 long intergenic non-protein coding RNA 1599 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,007,313...50,105,043
Ensembl chr14:49,927,571...50,105,102 		JBrowse link
G LOC125024479 Sharpr-MPRA regulatory region 12952 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,038,451...50,038,745 JBrowse link
G LOC125024480 Sharpr-MPRA regulatory region 10345 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,047,271...50,047,565 JBrowse link
G LOC129390630 MPRA-validated peak2154 silencer IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,237,558...50,237,758 JBrowse link
G LOC130055566 ATAC-STARR-seq lymphoblastoid active region 8334 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,000,737...50,000,786 JBrowse link
G LOC130055567 ATAC-STARR-seq lymphoblastoid silent region 5714 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,001,267...50,001,396 JBrowse link
G LOC130055568 ATAC-STARR-seq lymphoblastoid active region 8335 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,001,767...50,001,816 JBrowse link
G LOC130055569 ATAC-STARR-seq lymphoblastoid active region 8336 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,001,827...50,002,036 JBrowse link
G LOC130055570 ATAC-STARR-seq lymphoblastoid silent region 5716 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,021,369...50,021,428 JBrowse link
G LOC130055571 ATAC-STARR-seq lymphoblastoid silent region 5717 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,037,925...50,038,014 JBrowse link
G LOC130055572 ATAC-STARR-seq lymphoblastoid active region 8338 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,055,952...50,056,011 JBrowse link
G LOC130055573 ATAC-STARR-seq lymphoblastoid active region 8339 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,056,062...50,056,181 JBrowse link
G LOC130055574 ATAC-STARR-seq lymphoblastoid active region 8340 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,061,080...50,061,369 JBrowse link
G LOC130055575 ATAC-STARR-seq lymphoblastoid active region 8341 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,061,570...50,061,749 JBrowse link
G LOC130055576 ATAC-STARR-seq lymphoblastoid active region 8342 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,062,240...50,062,309 JBrowse link
G LOC130055577 ATAC-STARR-seq lymphoblastoid active region 8343 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,062,780...50,062,989 JBrowse link
G LOC130055578 ATAC-STARR-seq lymphoblastoid active region 8344 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,064,545...50,064,594 JBrowse link
G LOC130055579 ATAC-STARR-seq lymphoblastoid active region 8345 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,064,965...50,065,324 JBrowse link
G LOC130055580 ATAC-STARR-seq lymphoblastoid active region 8346 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,082,860...50,082,919 JBrowse link
G LOC130055581 ATAC-STARR-seq lymphoblastoid active region 8347 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,082,960...50,083,009 JBrowse link
G LOC130055582 ATAC-STARR-seq lymphoblastoid active region 8348 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,083,140...50,083,259 JBrowse link
G LOC130055583 ATAC-STARR-seq lymphoblastoid active region 8349 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,083,530...50,083,599 JBrowse link
G LOC130055584 ATAC-STARR-seq lymphoblastoid active region 8350 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,085,432...50,085,481 JBrowse link
G LOC130055585 ATAC-STARR-seq lymphoblastoid active region 8351 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,085,522...50,085,681 JBrowse link
G LOC130055586 ATAC-STARR-seq lymphoblastoid active region 8352 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,086,212...50,086,261 JBrowse link
G LOC130055587 ATAC-STARR-seq lymphoblastoid active region 8353 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,116,509...50,116,568 JBrowse link
G LOC130055588 ATAC-STARR-seq lymphoblastoid silent region 5718 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,231,170...50,232,249 JBrowse link
G LOC130055589 ATAC-STARR-seq lymphoblastoid active region 8354 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,232,400...50,232,489 JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO OMIM:615182 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578 		JBrowse link
G VCPKMT valosin containing protein lysine methyltransferase IAGP ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria ClinVar PMID:15385440 NCBI chr14:50,102,716...50,116,572
Ensembl chr14:50,108,632...50,116,600 		JBrowse link
Lacticaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 IAGP HPO OMIM:604273 NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209 		JBrowse link
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO OMIM:124000 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G CA5A carbonic anhydrase 5A IAGP HPO OMIM:615751 NCBI chr16:87,881,549...87,936,529
Ensembl chr16:87,881,546...87,936,580 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO OMIM:134600 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G LDHD lactate dehydrogenase D IAGP HPO OMIM:245450 NCBI chr16:75,111,864...75,116,780
Ensembl chr16:75,111,860...75,116,780 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP HPO OMIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157 		JBrowse link
G LYRM4 LYR motif containing 4 IAGP HPO OMIM:615595 NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950 		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 NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 IAGP HPO OMIM:618247 NCBI chr12:4,649,114...4,694,317
Ensembl chr12:4,649,095...4,694,317 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO OMIM:619003 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO OMIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NFS1 NFS1 cysteine desulfurase IAGP HPO OMIM:619386 NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355 		JBrowse link
G NFU1 NFU1 iron-sulfur cluster scaffold IAGP HPO OMIM:605711 NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628 		JBrowse link
G PDP1 pyruvate dehydrogenase phosphatase catalytic subunit 1 IAGP HPO ORPHA:79246 NCBI chr 8:93,916,923...93,926,068
Ensembl chr 8:93,857,807...93,926,068 		JBrowse link
G PET117 PET117 cytochrome c oxidase chaperone IAGP HPO OMIM:619063 NCBI chr20:18,137,863...18,143,169
Ensembl chr20:18,137,863...18,143,169 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO OMIM:619167 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP HPO OMIM:618811 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO OMIM:245400 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G TEFM transcription elongation factor, mitochondrial IAGP HPO OMIM:620451 NCBI chr17:30,898,986...30,906,238
Ensembl chr17:30,897,336...30,906,238 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO OMIM:618250 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP HPO OMIM:613070 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		JBrowse link
Lipiduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha IAGP HPO OMIM:301500 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
Long-chain dicarboxylic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
Low urinary cyclic AMP response to PTH administration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP HPO OMIM:103580 OMIM:603233 OMIM:612462 ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP HPO OMIM:603233 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,918...58,850,903 		JBrowse link
G STX16 syntaxin 16 IAGP HPO OMIM:603233 ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526 		JBrowse link
Low-molecular-weight proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 OMIM:308990 OMIM:310468 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 ORPHA:411629 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO OMIM:615605 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 OMIM:134600 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 OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:300555 OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		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
Lupus nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO OMIM:152700 ORPHA:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO OMIM:152700 ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO OMIM:614420 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:152700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO OMIM:152700 ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:536 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO OMIM:152700 ORPHA:536 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:536 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:152700 ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034 		JBrowse link
Macroscopic hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 CD81 CD81 molecule IAGP HPO OMIM:613496 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		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 COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:25741868 PMID:28492532 PMID:30586318 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G F8 coagulation factor VIII IAGP HPO ORPHA:169802 NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP HPO ORPHA:274 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:274 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GP9 glycoprotein IX platelet IAGP HPO ORPHA:274 NCBI chr 3:129,054,845...129,062,406
Ensembl chr 3:129,060,779...129,062,406 		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 ITGA2B integrin subunit alpha 2b IAGP HPO ORPHA:849 NCBI chr17:44,372,181...44,389,649
Ensembl chr17:44,372,180...44,389,649 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP HPO ORPHA:849 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:25741868 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Macroscopic hematuria ClinVar PMID:25741868 PMID:28492532 PMID:30586318 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
Medium chain dicarboxylic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain IAGP ClinVar Annotator: match by term: Medium chain dicarboxylic aciduria ClinVar
HPO		 PMID:1361190 PMID:1447668 PMID:1570195 PMID:1601002 PMID:1671131 More... OMIM:201450 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
Membranoproliferative glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QA complement C1q A chain IAGP HPO OMIM:613652 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678 		JBrowse link
G C3 complement C3 IAGP ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar
HPO		 PMID:32581362 OMIM:613779 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CFH complement factor H IAGP ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar PMID:32581362 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		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 DNASE2 deoxyribonuclease 2, lysosomal IAGP HPO OMIM:619858 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G KCNT2 potassium sodium-activated channel subfamily T member 2 IAGP ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis ClinVar PMID:32581362 NCBI chr 1:196,225,779...196,608,440
Ensembl chr 1:196,225,779...196,609,225 		JBrowse link
G LMNB2 lamin B2 IAGP HPO OMIM:608709 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G PGM3 phosphoglucomutase 3 IAGP HPO OMIM:615816 ORPHA:443811 NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		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 ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426 		JBrowse link
Membranous nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G JAK1 Janus kinase 1 IAGP HPO OMIM:618999 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		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
Methioninuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBS cystathionine beta-synthase IAGP HPO OMIM:236200 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
Methylmalonic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD4 ATP binding cassette subfamily D member 4 IAGP HPO OMIM:614857 NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055 		JBrowse link
G ACSF3 acyl-CoA synthetase family member 3 IAGP HPO OMIM:614265 ORPHA:289504 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO OMIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G CD320 CD320 molecule IAGP HPO OMIM:613646 NCBI chr19:8,302,127...8,308,358
Ensembl chr19:8,302,127...8,308,358 		JBrowse link
G HCFC1 host cell factor C1 IAGP HPO OMIM:309541 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO OMIM:277380 ORPHA:79284 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G MCEE methylmalonyl-CoA epimerase IAGP HPO OMIM:251120 NCBI chr 2:71,109,687...71,130,229
Ensembl chr 2:71,109,684...71,130,239 		JBrowse link
G MLYCD malonyl-CoA decarboxylase IAGP HPO OMIM:248360 NCBI chr16:83,899,115...83,927,031
Ensembl chr16:83,899,115...83,951,445 		JBrowse link
G MMAA metabolism of cobalamin associated A IAGP HPO OMIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033 		JBrowse link
G MMAB metabolism of cobalamin associated B IAGP HPO OMIM:251110 NCBI chr12:109,553,715...109,573,504
Ensembl chr12:109,553,715...109,573,580 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ClinVar Annotator: match by term: Methylmalonic aciduria ClinVar
HPO		 PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... OMIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MMADHC metabolism of cobalamin associated D IAGP HPO OMIM:277410 NCBI chr 2:149,569,637...149,587,775
Ensembl chr 2:149,569,637...149,587,778 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO OMIM:251000 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase IAGP HPO OMIM:250940 NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO OMIM:236270 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		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 SFXN4 sideroflexin 4 IAGP HPO OMIM:615578 NCBI chr10:119,140,767...119,165,714
Ensembl chr10:119,140,767...119,165,714 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO OMIM:612073 ORPHA:1933 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO OMIM:245400 ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045 		JBrowse link
G TCN2 transcobalamin 2 IAGP HPO OMIM:275350 ORPHA:859 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271 		JBrowse link
Microscopic hematuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP HPO ORPHA:86818 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		JBrowse link
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 AMMECR1 AMMECR nuclear protein 1 IAGP HPO ORPHA:86818 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G CFHR5 complement factor H related 5 IAGP HPO OMIM:614809 NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:308990 OMIM:310468 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		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 COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Microscopic hematuria ClinVar
HPO		 PMID:11134255 PMID:24052634 PMID:25741868 PMID:28492532 PMID:29854973 More... OMIM:104200 OMIM:620320 OMIM:620536 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: Microscopic hematuria ClinVar PMID:24052634 PMID:24854265 PMID:25741868 PMID:26809805 PMID:28492532 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 ClinVar Annotator: match by term: Microscopic hematuria ClinVar
HPO		 PMID:25741868 OMIM:301050 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CUBN cubilin IAGP HPO OMIM:261100 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		JBrowse link
G F2 coagulation factor II, thrombin IAGP HPO ORPHA:325 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G FN1 fibronectin 1 IAGP HPO OMIM:601894 ORPHA:84090 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G INF2 inverted formin 2 IAGP HPO OMIM:613237 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP HPO ORPHA:86818 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172 		JBrowse link
G LMNB2 lamin B2 IAGP HPO ORPHA:79087 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2613 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LPIN2 lipin 2 IAGP HPO ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:11134255 PMID:24052634 PMID:25741868 PMID:28492532 PMID:29854973 More... NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G MYO1E myosin IE IAGP ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP HPO OMIM:619155 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:25741868 PMID:28492532 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NUP85 nucleoporin 85 IAGP HPO OMIM:618176 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758 		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 PLCE1 phospholipase C epsilon 1 IAGP ClinVar Annotator: match by term: Microscopic hematuria ClinVar PMID:25741868 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Microhematuria ClinVar PMID:9108089 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Mild proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Mild proteinuria ClinVar PMID:9848783 PMID:11223851 PMID:12028435 PMID:17396119 PMID:19728970 More... NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO OMIM:301108 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO OMIM:619147 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		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 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 VPS50 VPS50 subunit of EARP/GARPII complex IAGP HPO OMIM:619685 NCBI chr 7:93,232,366...93,361,123
Ensembl chr 7:93,232,340...93,361,123 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614377 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
Minimal change glomerulonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 IAGP HPO ORPHA:656 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		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 HPO ORPHA:656 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		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 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 HPO ORPHA:656 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378 		JBrowse link
G ARPC5 actin related protein 2/3 complex subunit 5 IAGP HPO OMIM:620565 NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783 		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 COL4A3 collagen type IV alpha 3 chain IAGP HPO ORPHA:656 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		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 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 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 EMP2 epithelial membrane protein 2 IAGP HPO OMIM:615861 ORPHA:656 NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632 		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 INF2 inverted formin 2 IAGP HPO ORPHA:656 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 IAGP HPO OMIM:617783 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791 		JBrowse link
G KIRREL1 kirre like nephrin family adhesion molecule 1 IAGP HPO OMIM:619201 NCBI chr 1:157,993,645...158,100,262
Ensembl chr 1:157,993,273...158,100,262 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO OMIM:301006 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Minimal change glomerulonephritis ClinVar
HPO		 PMID:23687361 PMID:32581362 OMIM:256020 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP HPO OMIM:617609 ORPHA:656 NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667 		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 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 HPO ORPHA:656 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:616730 OMIM:618348 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 PAX2 paired box 2 IAGP HPO ORPHA:656 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		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 PTPRO protein tyrosine phosphatase receptor type O IAGP HPO OMIM:614196 ORPHA:656 NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		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 TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP HPO ORPHA:656 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO ORPHA:656 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO OMIM:617006 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
Moderate albuminuria 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:99885 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACTN4 actinin alpha 4 IAGP RGD PMID:10700177 RGD:1598731 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G AMN amnion associated transmembrane protein IAGP HPO OMIM:618882 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Microalbuminuria ClinVar PMID:25741868 PMID:28492532 PMID:30586318 NCBI chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association IAGP associated with Diabetes Mellitus, Type 1;DNA:deletion:cds: RGD PMID:19752172 RGD:7495818 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039 		JBrowse link
G GSTT1 glutathione S-transferase theta 1 no_association IAGP associated with Diabetes Mellitus, Type 1;DNA:deletion:cds: RGD PMID:19752172 RGD:7495818
G HFE homeostatic iron regulator IAGP associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y RGD PMID:15347835 RGD:8694362 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO OMIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G INS insulin IAGP HPO ORPHA:99885 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:99885 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Microalbuminuria ClinVar PMID:25741868 PMID:28492532 PMID:30586318 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO OMIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP associated with Diabetes Mellitus, Type 2;DNA:transition, transversion:cds:g.677C>T, g.1298A>C RGD PMID:22554825 RGD:6893631 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP associated with Type II diabetes mellitus;DNA:SNP:exon:g.20882C>T RGD PMID:26337659 RGD:12879466 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
Moderate proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1GALT1C1 C1GALT1 specific chaperone 1 IAGP HPO OMIM:301110 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		JBrowse link
Mucopolysacchariduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUCA1 alpha-L-fucosidase 1 IAGP HPO ORPHA:349 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 OMIM:252600 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma IAGP HPO OMIM:252605 NCBI chr16:1,351,931...1,364,113
Ensembl chr16:1,351,931...1,365,737 		JBrowse link
G GUSB glucuronidase beta IAGP HPO ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G IDUA alpha-L-iduronidase IAGP ClinVar Annotator: match by term: Mucopolysacchariduria ClinVar
HPO		 PMID:1301196 PMID:4221470 PMID:7951228 PMID:8680403 PMID:10215409 More... ORPHA:93473 ORPHA:93474 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G NAGLU N-acetyl-alpha-glucosaminidase IAGP ClinVar Annotator: match by term: Mucopolysacchariduria ClinVar PMID:8650226 PMID:9443875 PMID:9443878 PMID:9832037 PMID:9950362 More... NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449 		JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO OMIM:618440 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:175 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO OMIM:272200 ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:184095 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
Myoglobinuria 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 ANO5 anoctamin 5 IAGP HPO ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		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 CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:255110 ORPHA:228302 ORPHA:228305 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G DMD dystrophin IAGP HPO ORPHA:98895 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP HPO OMIM:231530 ORPHA:71212 NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO OMIM:609015 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP HPO OMIM:620300 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465 		JBrowse link
G ISCU iron-sulfur cluster assembly enzyme IAGP HPO OMIM:255125 NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368 		JBrowse link
G LDHA lactate dehydrogenase A IAGP HPO OMIM:612933 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 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G MLIP muscular LMNA interacting protein IAGP HPO OMIM:620138 NCBI chr 6:54,018,970...54,266,280
Ensembl chr 6:53,929,982...54,266,280 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 IAGP HPO OMIM:261670 NCBI chr 7:44,062,727...44,065,567
Ensembl chr 7:44,062,727...44,065,567 		JBrowse link
G PGK1 phosphoglycerate kinase 1 IAGP HPO ORPHA:713 NCBI chr  X:78,104,248...78,129,295
Ensembl chr  X:77,910,739...78,129,295 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO ORPHA:264580 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP HPO OMIM:232600 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 OMIM:145600 ORPHA:423 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO ORPHA:119 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO OMIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
Nephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO OMIM:203800 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G CASP10 caspase 10 IAGP HPO OMIM:603909 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CD151 CD151 molecule (Raph blood group) IAGP HPO OMIM:609057 NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP HPO OMIM:104200 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 HPO OMIM:203780 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 ClinVar Annotator: match by term: Nephritis ClinVar
HPO		 PMID:25741868 OMIM:301050 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO OMIM:152700 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO OMIM:152700 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G FCGR2A Fc gamma receptor IIa IAGP HPO OMIM:152700 NCBI chr 1:161,505,457...161,524,048
Ensembl chr 1:161,505,430...161,524,013 		JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO OMIM:152700 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO OMIM:614034 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		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 ORPHA:182050 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 IAGP associated with Lupus Erythematosus, Systemic, DNA:SNPs:promoter, exon:-1963A>G, 28077G>A RGD PMID:16461442 RGD:1601085 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PLG plasminogen IAGP HPO OMIM:217090 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO OMIM:152700 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:152700 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UMOD uromodulin IAGP HPO OMIM:162000 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
Nephropathy 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 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACTN4 actinin alpha 4 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:19142020 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:820 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO OMIM:105200 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		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 AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 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 OMIM:105200 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		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 C2 complement C2 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:31,897,783...31,945,672
Ensembl chr 6:31,897,785...31,945,673 		JBrowse link
G C3 complement C3 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 PMID:29888403 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:1454 ORPHA:2318 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		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 CD2AP CD2 associated protein IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263 		JBrowse link
G CD46 CD46 molecule IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:207,752,038...207,795,516
Ensembl chr 1:207,752,037...207,795,513 		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 CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar
HPO		 PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 PMID:25741868 More... ORPHA:2318 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFB complement factor B IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:23847193 PMID:24652797 PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:11158219 PMID:12424708 PMID:12697737 PMID:16338962 PMID:16601698 More... 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: 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 CFHR2 complement factor H related 2 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:196,943,738...196,959,622
Ensembl chr 1:196,943,738...196,959,622 		JBrowse link
G CFHR3 complement factor H related 3 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:196,774,840...196,795,407
Ensembl chr 1:196,774,813...196,795,407 		JBrowse link
G CFHR4 complement factor H related 4 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 NCBI chr 1:196,888,052...196,918,633
Ensembl chr 1:196,888,014...196,918,795 		JBrowse link
G CFHR5 complement factor H related 5 IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:19365580 PMID:22622361 PMID:25741868 PMID:28492532 PMID:29148534 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: Kidney disease ClinVar 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 CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G CLDN19 claudin 19 IAGP HPO ORPHA:2196 NCBI chr 1:42,733,093...42,740,236
Ensembl chr 1:42,733,093...42,740,254 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:12028435 PMID:14582039 PMID:14871398 PMID:15880327 PMID:17216251 More... 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: Kidney disease
ClinVar Annotator: match by term: Kidney damage
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:1721625 PMID:9792860 PMID:12631110 PMID:14582039 PMID:17216251 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 ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar
HPO		 PMID:8406498 PMID:8455372 PMID:8940267 PMID:9536098 PMID:10094548 More... 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 COQ2 coenzyme Q2, polyprenyltransferase IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CPOX coproporphyrinogen oxidase IAGP HPO ORPHA:79273 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Kidney damage ClinVar PMID:25741868 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G DNAJB7 DnaJ heat shock protein family (Hsp40) member B7 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 NCBI chr22:40,859,549...40,862,113
Ensembl chr22:40,859,549...40,862,113 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:474 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO ORPHA:1031 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G FGA fibrinogen alpha chain IAGP HPO OMIM:105200 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FOXI1 forkhead box I1 IAGP HPO ORPHA:705 NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		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 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 GLIS2 GLIS family zinc finger 2 IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:4,314,761...4,339,595
Ensembl chr16:4,314,761...4,339,597 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 IAGP HPO ORPHA:531 NCBI chr17:2,055,103...2,063,241
Ensembl chr17:2,054,154...2,063,241 		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 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 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 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility IAGP DNA:SNO:intron: (rs17389016, rs11799643) (human) RGD PMID:32453474 RGD:329902062 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:474 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 ORPHA:474 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:20023659 PMID:21866090 PMID:23515051 PMID:25165188 PMID:25741868 More... NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO OMIM:213300 ORPHA:1454 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 INVS inversin IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:100,099,243...100,302,175
Ensembl chr 9:100,099,243...100,302,175 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO ORPHA:705 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:552 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIR3DS1 killer cell immunoglobulin like receptor, three Ig domains and short cytoplasmic tail 1 IAGP DNA:deletion (human) RGD PMID:23486513 RGD:150340577
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 LAGE3 L antigen family member 3 IAGP HPO ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar PMID:9536098 PMID:17576681 PMID:18594871 PMID:20556798 PMID:21763483 More... NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC107548112 REN promoter and enhancer region IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:204,162,166...204,178,479 JBrowse link
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Nephropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:32,430,169...32,437,423 JBrowse link
G LOC126859690 MED14-independent group 3 enhancer GRCh37_chr6:51888848-51890047 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:11919560 PMID:12846734 PMID:16523049 PMID:19914852 PMID:25741868 More... NCBI chr 6:52,024,050...52,025,249 JBrowse link
G LOC126863137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr22:36,299,956...36,301,155 JBrowse link
G LOC129935730 ATAC-STARR-seq lymphoblastoid silent region 12397 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:227,164,678...227,164,857 JBrowse link
G LOC129937586 ATAC-STARR-seq lymphoblastoid silent region 14743 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,722,066...132,722,315 JBrowse link
G LOC130002251 ATAC-STARR-seq lymphoblastoid silent region 20132 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:100,099,307...100,099,516 JBrowse link
G LYZ lysozyme IAGP HPO OMIM:105200 NCBI chr12:69,348,381...69,354,234
Ensembl chr12:69,348,381...69,354,234 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:12028435 PMID:14582039 PMID:14871398 PMID:15880327 PMID:17216251 More... NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		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:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 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:550 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:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar
HPO		 PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26467025 More... ORPHA:182050 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO1E myosin IE IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		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 NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar
HPO		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:12522564 More... ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		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 NPHP1 nephrocystin 1 IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:220497 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 ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephropathy ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,874,223 		JBrowse link
G NPHP4 nephrocystin 4 IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar PMID:12205563 PMID:15776426 PMID:21546380 PMID:22550138 PMID:22773737 More... 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 ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:11317351 PMID:11562357 PMID:11854170 PMID:12039988 PMID:15086927 More... 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: Kidney disease ClinVar PMID:15954915 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:2065 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:2065 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO ORPHA:531 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		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 PAX6 paired box 6 IAGP HPO OMIM:194072 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		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 PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:11898128 PMID:11919560 PMID:12506140 PMID:12846734 PMID:12874454 More... NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PLA2R1 phospholipase A2 receptor 1 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 NCBI chr 2:159,923,933...160,062,615
Ensembl chr 2:159,932,006...160,062,615 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar PMID:22865593 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G PLCE1-AS1 PLCE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephropathy ClinVar PMID:22865593 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:94,279,290...94,287,070
Ensembl chr10:94,278,681...94,287,478 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma no_association IAGP DNA:snp:cds:p.P12A RGD PMID:9918859 RGD:8552822 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		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 PRODH proline dehydrogenase 1 IAGP HPO ORPHA:419 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553 		JBrowse link
G REG1A regenerating family member 1 alpha IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:25741868 NCBI chr 2:79,120,488...79,123,409
Ensembl chr 2:79,120,362...79,123,409 		JBrowse link
G REN renin IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar
HPO		 PMID:18414213 PMID:25741868 PMID:28492532 ORPHA:1454 ORPHA:220497 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		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 SCARB2 scavenger receptor class B member 2 IAGP HPO OMIM:254900 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:526 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:526 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:526 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:25741868 PMID:28492532 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 SLC26A4 solute carrier family 26 member 4 IAGP HPO ORPHA:705 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC5A2 solute carrier family 5 member 2 IAGP HPO ORPHA:69076 NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G THBD thrombomodulin IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar PMID:7811989 PMID:10460600 PMID:11986219 PMID:12139752 PMID:25741868 More... NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO ORPHA:2318 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO ORPHA:2318 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2318 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:220497 ORPHA:2318 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP ClinVar Annotator: match by term: Kidney damage
ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar
HPO		 PMID:17160906 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19508969 More... ORPHA:1454 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO ORPHA:2065 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:247691 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP HPO ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		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 UMOD uromodulin IAGP ClinVar Annotator: match by term: Kidney disease ClinVar
HPO		 PMID:14531790 PMID:23988501 PMID:25741868 PMID:26467025 PMID:28492532 OMIM:162000 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP HPO OMIM:613404 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO OMIM:208085 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP HPO OMIM:301000 ORPHA:906 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO ORPHA:2065 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:3463 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WIPF1 WAS/WASL interacting protein family member 1 IAGP HPO ORPHA:906 NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Nephropathy
ClinVar Annotator: match by term: Kidney disease		 ClinVar
HPO		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 More... OMIM:194072 OMIM:194080 ORPHA:220 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XPNPEP3 X-prolyl aminopeptidase 3 IAGP ClinVar Annotator: match by term: Kidney disease
ClinVar Annotator: match by term: Nephropathy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:40,857,148...40,932,815
Ensembl chr22:40,857,077...40,932,815 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon IAGP HPO ORPHA:531 NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222 		JBrowse link
G ZNF423 zinc finger protein 423 IAGP HPO ORPHA:2318 NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		JBrowse link
Nephrotic range proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOL1 apolipoprotein L1 IAGP ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More... NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Nephrotic range proteinuria 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 CD81 CD81 molecule IAGP HPO OMIM:613496 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit IAGP HPO ORPHA:300536 NCBI chr 1:20,651,777...20,661,369
Ensembl chr 1:20,651,767...20,661,544 		JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP HPO OMIM:619155 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:20172850 PMID:32581362 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: Nephrotic range proteinuria ClinVar PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Nephrotic range proteinuria ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G ADA adenosine deaminase IAGP HPO ORPHA:39041 NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252 		JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10453743 PMID:15110324 PMID:15327387 PMID:15464418 PMID:17495019 More... NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502 		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 ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ANLN anillin, actin binding protein IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:28492532 OMIM:616032 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 HPO OMIM:105200 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G ARHGAP24 Rho GTPase activating protein 24 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar 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 HPO OMIM:615244 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: Nephrotic syndrome ClinVar PMID:29127259 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: Nephrotic syndrome ClinVar PMID:12464671 PMID:12707396 PMID:19145239 PMID:19268410 PMID:20798252 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 OMIM:105200 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 C1QBP complement C1q binding protein IAGP HPO OMIM:617713 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G C3 complement C3 IAGP HPO OMIM:613779 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G CASP10 caspase 10 IAGP HPO OMIM:603909 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		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 CDK20 cyclin dependent kinase 20 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 9:87,966,441...87,974,533
Ensembl chr 9:87,966,441...87,974,753 		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 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 CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:39041 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO OMIM:601776 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:15086899 PMID:15895257 PMID:19657328 PMID:22083641 PMID:23566014 More... NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:19008299 PMID:25741868 PMID:29127259 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375 OMIM:104200 OMIM:620536 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: Nephrotic syndrome ClinVar
HPO		 PMID:21196518 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 More... OMIM:203780 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 ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:7599631 PMID:7695699 PMID:8218237 PMID:9848783 PMID:15044104 More... OMIM:301050 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 ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:25349199 More... OMIM:607426 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33532864 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:10556299 PMID:19580442 PMID:24464559 PMID:25741868 PMID:29127259 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO OMIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO ORPHA:39041 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G DDX53 DEAD-box helicase 53 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:22,999,960...23,003,589
Ensembl chr  X:22,999,960...23,003,589 		JBrowse link
G DGKE diacylglycerol kinase epsilon IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:23274426 PMID:25349199 PMID:25741868 PMID:29127259 OMIM:615008 NCBI chr17:56,834,151...56,869,567
Ensembl chr17:56,834,107...56,869,567 		JBrowse link
G DHTKD1 dehydrogenase E1 and transketolase domain containing 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:28492532 PMID:29127259 NCBI chr10:12,068,954...12,123,221
Ensembl chr10:12,068,954...12,123,221 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO ORPHA:251510 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO OMIM:301108 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DMRT3 doublesex and mab-3 related transcription factor 3 IAGP HPO ORPHA:251510 NCBI chr 9:976,655...991,732
Ensembl chr 9:976,655...991,732 		JBrowse link
G EMP2 epithelial membrane protein 2 IAGP HPO OMIM:615861 NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632 		JBrowse link
G FAT1 FAT atypical cadherin 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26905694 PMID:28492532 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722 		JBrowse link
G FGA fibrinogen alpha chain IAGP HPO OMIM:105200 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FN1 fibronectin 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:29127259 OMIM:601894 ORPHA:84090 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		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 GATA4 GATA binding protein 4 IAGP HPO ORPHA:251510 NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:29127259 ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GSN gelsolin IAGP HPO OMIM:105120 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO 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 IL2RG interleukin 2 receptor subunit gamma IAGP HPO ORPHA:39041 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G IL7R interleukin 7 receptor IAGP HPO ORPHA:39041 NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603 		JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29127259 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G ITGA3 integrin subunit alpha 3 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:22512483 PMID:29127259 OMIM:614748 NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G ITSN1 intersectin 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:29773874 NCBI chr21:33,642,501...33,899,861
Ensembl chr21:33,642,400...33,899,861 		JBrowse link
G JAK1 Janus kinase 1 IAGP HPO OMIM:618999 NCBI chr 1:64,833,229...65,067,746
Ensembl chr 1:64,833,223...65,067,754 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 IAGP HPO OMIM:617783 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791 		JBrowse link
G KANK4 KN motif and ankyrin repeat domains 4 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:25961457 PMID:28492532 PMID:29127259 NCBI chr 1:62,236,165...62,319,434
Ensembl chr 1:62,236,165...62,319,434 		JBrowse link
G KIRREL2 kirre like nephrin family adhesion molecule 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:11317351 PMID:11854170 PMID:12039988 PMID:18503012 PMID:20507940 More... NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO OMIM:301006 ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:23999528 PMID:25741868 PMID:26553438 PMID:28492532 PMID:29534211 More... OMIM:620049 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:2206901 PMID:9536098 PMID:15367484 PMID:17576681 PMID:18672223 More... OMIM:609049 OMIM:614199 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:39041 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMNB2 lamin B2 IAGP HPO OMIM:608709 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... OMIM:161200 ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC107372315 OSGEP/APEX1 bi-directional promoter region IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28805828 PMID:29127259 NCBI chr14:20,451,644...20,455,489 JBrowse link
G LOC112997540 Sharpr-MPRA regulatory region 13773 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 4:83,284,501...83,284,930 JBrowse link
G LOC126862634 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:71195948-71197147 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:19008299 PMID:25741868 PMID:29127259 NCBI chr17:73,199,809...73,201,008 JBrowse link
G LOC130004381 ATAC-STARR-seq lymphoblastoid silent region 2632 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr10:93,993,745...93,994,034 JBrowse link
G LYZ lysozyme IAGP HPO OMIM:105200 NCBI chr12:69,348,381...69,354,234
Ensembl chr12:69,348,381...69,354,234 		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 MAP3K1 mitogen-activated protein kinase kinase kinase 1 IAGP HPO ORPHA:251510 NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP HPO ORPHA:401835 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO OMIM:249100 ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375 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 HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO ORPHA:69063 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		JBrowse link
G MXRA5 matrix remodeling associated 5 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:3,308,565...3,346,652
Ensembl chr  X:3,308,565...3,346,652 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO1E myosin IE IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:25741868 PMID:29127259 OMIM:614131 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOC3L NOC3 like DNA replication regulator IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr10:94,314,907...94,362,939
Ensembl chr10:94,333,226...94,362,959 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO OMIM:620425 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NOS1AP nitric oxide synthase 1 adaptor protein IAGP HPO OMIM:619155 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:2656023 PMID:9536098 PMID:9660941 PMID:9915943 PMID:10972661 More... ORPHA:839 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: Nephrotic syndrome ClinVar
HPO		 PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More... OMIM:600995 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO ORPHA:251510 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 IAGP HPO ORPHA:251510 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:616730 OMIM:618348 ORPHA:2065 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO OMIM:618349 ORPHA:2065 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G NUP93 nucleoporin 93 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 More... NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 More... OMIM:617729 ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PAX2 paired box 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 OMIM:616002 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:17186472 PMID:17374725 PMID:19096106 PMID:20689595 PMID:23816342 More... OMIM:614652 NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:29127259 OMIM:610725 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G PLCE1-AS1 PLCE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr10:94,279,290...94,287,070
Ensembl chr10:94,278,681...94,287,478 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO OMIM:212065 ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PTCHD1-AS PTCHD1 antisense RNA (head to head) IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:22,193,005...23,293,146
Ensembl chr  X:22,191,895...22,235,358 		JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O IAGP HPO OMIM:614196 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 RAG1 recombination activating 1 IAGP HPO ORPHA:39041 NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156 		JBrowse link
G RAG2 recombination activating 2 IAGP HPO ORPHA:39041 NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279 		JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP HPO ORPHA:90307 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931 		JBrowse link
G REN renin IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO ORPHA:39041 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017 		JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		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 SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		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 SCARB2 scavenger receptor class B member 2 IAGP HPO OMIM:254900 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		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 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SERPINA1 serpin family A member 1 IAGP HPO ORPHA:60 NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:23232022 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28492532 More... OMIM:617575 NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO OMIM:269920 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992 		JBrowse link
G SLC35F1 solute carrier family 35 member F1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:29127259 NCBI chr 6:117,907,264...118,317,671
Ensembl chr 6:117,907,264...118,317,676 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... OMIM:242900 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO ORPHA:66631 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:251510 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SRY sex determining region Y IAGP HPO ORPHA:251510 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 IAGP HPO ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 no_association
severity		 IAGP DNA:polymorphism:3' utr:2964G>A
DNA:polymorphism:3' utr:g.2964G>A
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 		RGD PMID:15687724 PMID:12900808 PMID:19011907 RGD:7244146, RGD:7244138, RGD:7244144 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO OMIM:612783 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G SYNPO synaptopodin IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:33615071 NCBI chr 5:150,586,010...150,659,207
Ensembl chr 5:150,601,080...150,659,207 		JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:31732614 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150 		JBrowse link
G TNS2 tensin 2 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29773874 NCBI chr12:53,046,991...53,064,379
Ensembl chr12:53,046,969...53,064,379 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO OMIM:617730 ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPRKB TP53RK binding protein IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:28805828 PMID:29127259 ORPHA:2065 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		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 TRIM8 tripartite motif containing 8 IAGP HPO OMIM:619428 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:15924139 PMID:19129465 PMID:21734084 PMID:23645677 PMID:25741868 More... OMIM:603965 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891 		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 VAMP7 vesicle associated membrane protein 7 IAGP HPO ORPHA:251510 NCBI chr  X:155,881,345...155,943,769
NCBI chr  Y:57,067,865...57,130,289
Ensembl chr  Y:57,067,865...57,130,289
Ensembl chr  X:57,067,865...57,130,289 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		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 WDR4 WD repeat domain 4 IAGP HPO OMIM:618347 ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR73 WD repeat domain 73 IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:27001912 More... OMIM:251300 ORPHA:2065 ORPHA:83472 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Nephrotic syndrome ClinVar
HPO		 OMIM:136680 OMIM:194080 OMIM:256370 ORPHA:220 ORPHA:251510 ORPHA:347 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:251510 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO OMIM:617006 ORPHA:911 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO ORPHA:251510 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZNF592 zinc finger protein 592 IAGP HPO ORPHA:83472 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426 		JBrowse link
Neutral hyperaminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLTRN collectrin, amino acid transport regulator IAGP HPO ORPHA:2116 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP HPO OMIM:234500 ORPHA:2116 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
Non-acidotic proximal tubulopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP2 LDL receptor related protein 2 IAGP HPO OMIM:222448 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
Oligosacchariduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FUCA1 alpha-L-fucosidase 1 IAGP HPO OMIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GAA alpha glucosidase IAGP HPO ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO ORPHA:423461 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 ORPHA:309288 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		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 SNX14 sorting nexin 14 IAGP HPO OMIM:616354 ORPHA:397709 NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156 		JBrowse link
Oliguria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APRT adenine phosphoribosyltransferase IAGP HPO OMIM:614723 ORPHA:976 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220393 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220393 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		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 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:220393 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		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 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 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 RYR1 ryanodine receptor 1 IAGP HPO ORPHA:466650 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO OMIM:220150 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP HPO ORPHA:159 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
Organic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 IAGP HPO OMIM:301310 NCBI chr  X:75,051,048...75,156,283
Ensembl chr  X:75,051,048...75,156,732 		JBrowse link
G BTD biotinidase IAGP HPO OMIM:253260 ORPHA:79241 NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 IAGP HPO OMIM:255100 NCBI chr 1:154,983,344...154,993,111
Ensembl chr 1:154,983,338...154,993,111 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO OMIM:612718 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G HLCS holocarboxylase synthetase IAGP HPO OMIM:253270 ORPHA:79242 NCBI chr21:36,748,625...36,990,211
Ensembl chr21:36,748,626...36,990,236 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP HPO OMIM:246450 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 IAGP HPO ORPHA:6 NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075 		JBrowse link
G MCCC2 methylcrotonyl-CoA carboxylase subunit 2 IAGP HPO OMIM:210210 ORPHA:6 NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706 		JBrowse link
G MPC1 mitochondrial pyruvate carrier 1 IAGP HPO OMIM:614741 NCBI chr 6:166,364,919...166,382,940
Ensembl chr 6:166,364,919...166,383,013 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha IAGP HPO ORPHA:35 NCBI chr13:100,089,093...100,530,435
Ensembl chr13:100,089,015...100,530,437 		JBrowse link
G PCCB propionyl-CoA carboxylase subunit beta IAGP HPO ORPHA:35 NCBI chr 3:136,250,340...136,330,169
Ensembl chr 3:136,250,340...136,337,896 		JBrowse link
G PGM2L1 phosphoglucomutase 2 like 1 IAGP HPO OMIM:620191 NCBI chr11:74,330,316...74,398,433
Ensembl chr11:74,330,316...74,398,433 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO OMIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO OMIM:617184 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP HPO OMIM:614707 NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
Ornithinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO OMIM:238700 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP HPO OMIM:220100 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		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
G SLC7A9 solute carrier family 7 member 9 IAGP HPO OMIM:220100 NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767 		JBrowse link
Orotic acid crystalluria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UMPS uridine monophosphate synthetase IAGP HPO OMIM:258900 ORPHA:30 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
Oroticaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARG1 arginase 1 IAGP HPO OMIM:207800 NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332 		JBrowse link
G ASL argininosuccinate lyase IAGP HPO OMIM:207900 ORPHA:23 NCBI chr 7:66,075,819...66,093,576
Ensembl chr 7:66,075,800...66,094,697 		JBrowse link
G ASS1 argininosuccinate synthase 1 IAGP HPO OMIM:215700 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha IAGP HPO OMIM:620358 NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP HPO OMIM:616457 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G OTC ornithine transcarbamylase IAGP HPO OMIM:311250 NCBI chr  X:38,327,684...38,422,928
Ensembl chr  X:38,327,598...38,422,908 		JBrowse link
G SLC25A15 solute carrier family 25 member 15 IAGP HPO ORPHA:415 NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO OMIM:222700 ORPHA:470 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP ClinVar Annotator: match by term: Orotic aciduria
ClinVar Annotator: match by term: Oroticaciduria		 ClinVar
HPO		 PMID:9042911 PMID:25741868 PMID:28205048 PMID:28263315 PMID:28492532 OMIM:258900 ORPHA:30 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
Parathormone-independent increased renal tubular calcium reabsorption term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY10 adenylate cyclase 10 IAGP HPO ORPHA:2197 NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215 		JBrowse link
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP HPO OMIM:600740 NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO OMIM:145981 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
Paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD59 CD59 molecule (CD59 blood group) IAGP HPO OMIM:612300 NCBI chr11:33,703,010...33,736,479
Ensembl chr11:33,703,010...33,736,479 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria ClinVar
HPO		 PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More... OMIM:300818 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO OMIM:615399 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
Phosphoethanolaminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO OMIM:241500 OMIM:241510 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
Phosphohydroxylysinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase IAGP ClinVar Annotator: match by term: Phosphohydroxylysinuria ClinVar
HPO		 PMID:23242558 OMIM:615011 NCBI chr 5:178,207,144...178,232,822
Ensembl chr 5:178,208,471...178,232,802 		JBrowse link
Pink urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UROS uroporphyrinogen III synthase IAGP HPO OMIM:263700 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
Polyuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP2 aquaporin 2 IAGP HPO OMIM:125800 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP HPO OMIM:618314 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP HPO OMIM:304800 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		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:239200 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CAV1 caveolin 1 IAGP HPO OMIM:606721 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		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:607364 OMIM:613090 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G CLDN10 claudin 10 IAGP HPO OMIM:617671 NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759 		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 CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 IAGP HPO OMIM:143880 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO OMIM:204690 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO OMIM:222100 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G IL6 interleukin 6 IAGP HPO OMIM:222100 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IAGP HPO OMIM:222100 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO OMIM:612780 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO OMIM:613677 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G KL klotho IAGP HPO OMIM:617994 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO OMIM:615994 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MAGED2 MAGE family member D2 IAGP HPO OMIM:300971 NCBI chr  X:54,807,745...54,816,015
Ensembl chr  X:54,807,599...54,816,015 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP HPO OMIM:613824 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO OMIM:256100 OMIM:266900 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 OMIM:604387 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 OMIM:606966 OMIM:606996 NCBI chr 1:5,862,811...5,992,425
Ensembl chr 1:5,862,811...5,992,473 		JBrowse link
G PLVAP plasmalemma vesicle associated protein IAGP HPO OMIM:618183 NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO OMIM:222100 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RRAGD Ras related GTP binding D IAGP HPO OMIM:620152 NCBI chr 6:89,364,616...89,412,273
Ensembl chr 6:89,364,616...89,412,273 		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 SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO OMIM:263800 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:616963 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC41A1 solute carrier family 41 member 1 IAGP HPO OMIM:619468 NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748 		JBrowse link
G SLC5A2 solute carrier family 5 member 2 IAGP HPO OMIM:233100 NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO OMIM:617140 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:613550 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Porphyrinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPOX coproporphyrinogen oxidase IAGP DNA:missense mutations, nonsense mutation:exons:multiple HPO
RGD		 PMID:15896662 ORPHA:79273, RGD:25671429 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:79277 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G HFE homeostatic iron regulator susceptibility IAGP DNA:missense mutations:cds:p.C282Y, p.H63D
ClinVar Annotator: match by term: Porphyrinuria		 ClinVar
RGD		 PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... RGD:8694347 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G PPOX protoporphyrinogen oxidase IAGP HPO OMIM:176200 ORPHA:79473 NCBI chr 1:161,165,728...161,178,013
Ensembl chr 1:161,166,056...161,178,013 		JBrowse link
G SLCO1B1 solute carrier organic anion transporter family member 1B1 IAGP HPO ORPHA:3111 NCBI chr12:21,131,194...21,239,796
Ensembl chr12:21,131,194...21,239,796 		JBrowse link
G SLCO1B3 solute carrier organic anion transporter family member 1B3 IAGP HPO ORPHA:3111 NCBI chr12:20,810,705...20,916,911
Ensembl chr12:20,810,702...20,916,911 		JBrowse link
G UROD uroporphyrinogen decarboxylase IAGP HPO OMIM:176100 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO ORPHA:79277 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
Positive 2,4-dinitrophenylhydrazine urine test term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP HPO OMIM:248600 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002 		JBrowse link
Prolinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP HPO OMIM:239510 ORPHA:79101 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724 		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 PRODH proline dehydrogenase 1 IAGP HPO OMIM:239500 ORPHA:419 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553 		JBrowse link
G SLC36A2 solute carrier family 36 member 2 IAGP HPO OMIM:242600 ORPHA:42062 NCBI chr 5:151,314,972...151,347,559
Ensembl chr 5:151,314,972...151,347,590 		JBrowse link
G SLC6A18 solute carrier family 6 member 18 IAGP HPO ORPHA:42062 NCBI chr 5:1,225,381...1,246,189
Ensembl chr 5:1,225,381...1,246,189 		JBrowse link
G SLC6A19 solute carrier family 6 member 19 IAGP HPO ORPHA:42062 NCBI chr 5:1,201,595...1,225,111
Ensembl chr 5:1,201,595...1,225,111 		JBrowse link
G SLC6A20 solute carrier family 6 member 20 IAGP HPO ORPHA:42062 NCBI chr 3:45,755,449...45,796,536
Ensembl chr 3:45,755,449...45,796,574 		JBrowse link
Proteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme disease_progression
severity		 IAGP DNA:deletion:intron:IVS16+1464-1751del
associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del 		RGD PMID:15315169 PMID:10193250 RGD:11038920, RGD:11038828 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
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 ACSL4 acyl-CoA synthetase long chain family member 4 IAGP HPO ORPHA:86818 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		JBrowse link
G ACTN4 actinin alpha 4 IAGP HPO OMIM:603278 ORPHA:656 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
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 AGER advanced glycosylation end-product specific receptor susceptibility IAGP associated with Diabetes Mellitus;DNA:polymorphisms, haplotype:cds, intron:p.G82S, g.2184A>G (rs2070600, rs3134940) RGD PMID:21533139 RGD:7244187 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B susceptibility IAGP associated with Diabetes Mellitus, Type 1;DNA:promoter:repeat:g.?(AC)n RGD PMID:9000706 RGD:8548641 NCBI chr 7:134,442,350...134,459,239
Ensembl chr 7:134,442,356...134,459,284 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO ORPHA:86818 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G AMN amnion associated transmembrane protein IAGP HPO OMIM:618882 ORPHA:35858 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596 		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 HPO OMIM:616032 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 HPO OMIM:105200 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOE apolipoprotein E IAGP DNA:missense mutation:cds:p.R145P HPO
RGD		 PMID:9176854 OMIM:611771, RGD:6903202 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APOL1 apolipoprotein L1 IAGP ClinVar Annotator: match by term: Proteinuria HPO
ClinVar		 PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More... 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 HPO OMIM:615244 ORPHA:656 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Proteinuria ClinVar 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 OMIM:105200 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851 		JBrowse link
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
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 BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		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 C1GALT1C1 C1GALT1 specific chaperone 1 IAGP HPO OMIM:301110 NCBI chr  X:120,625,674...120,630,054
Ensembl chr  X:120,625,674...120,630,054 		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 C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CD2AP CD2 associated protein IAGP HPO OMIM:607832 ORPHA:656 NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263 		JBrowse link
G CD46 CD46 molecule susceptibility IAGP DNA:missense mutation:cds:p.A304V HPO
RGD		 PMID:21445332 OMIM:612922 ORPHA:244242, RGD:6483459 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 ORPHA:244242 NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476 		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 CLCNKB chloride voltage-gated channel Kb IAGP ClinVar Annotator: match by term: Proteinuria ClinVar
HPO		 PMID:24830959 PMID:25741868 PMID:26920127 PMID:28381550 PMID:28492532 More... ORPHA:358 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 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 COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Proteinuria HPO
ClinVar		 PMID:25741868 PMID:28492532 PMID:30586318 OMIM:104200 OMIM:620320 OMIM:620536 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: Proteinuria ClinVar
HPO		 PMID:17396119 PMID:24033287 PMID:24854265 PMID:25741868 PMID:26934356 More... OMIM:203780 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 ClinVar Annotator: match by term: Proteinuria ClinVar
HPO		 PMID:25741868 OMIM:301050 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 COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO OMIM:607426 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COQ6 coenzyme Q6, monooxygenase IAGP HPO OMIM:614650 NCBI chr14:73,949,926...73,963,670
Ensembl chr14:73,949,926...73,963,670 		JBrowse link
G COQ8B coenzyme Q8B IAGP HPO OMIM:615573 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 CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		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 CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP associated with Purpura, Schoenlein-Henoch;DNA:polymorphism:exon:49A>G(human) HPO
RGD		 PMID:22700162 ORPHA:536 ORPHA:900, RGD:11344910 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 OMIM:219900 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CUBN cubilin IAGP HPO OMIM:261100 OMIM:618884 ORPHA:35858 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		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 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 DLST dihydrolipoamide S-succinyltransferase IAGP HPO ORPHA:29072 NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743 		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 DNASE1 deoxyribonuclease 1 IAGP HPO ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP HPO OMIM:619858 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO ORPHA:276621 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO OMIM:616901 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		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 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 EPAS1 endothelial PAS domain protein 1 IAGP HPO ORPHA:276621 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697 		JBrowse link
G EPHX2 epoxide hydrolase 2 IAGP DNA:SNPs, haplotype:promoter:-255T>C, -111G>A, 25C>T RGD PMID:18086949 RGD:5688363 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO OMIM:610965 ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 ORPHA:90321 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 ORPHA:90321 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G EXT2 exostosin glycosyltransferase 2 IAGP HPO OMIM:616682 NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962 		JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO OMIM:614817 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G FGA fibrinogen alpha chain IAGP HPO OMIM:105200 NCBI chr 4:154,583,126...154,590,742
Ensembl chr 4:154,583,126...154,590,742 		JBrowse link
G FH fumarate hydratase IAGP HPO ORPHA:29072 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		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 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 HPO OMIM:601894 ORPHA:84090 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FOXC2 forkhead box C2 IAGP HPO ORPHA:33001 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		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 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 GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GLA galactosidase alpha IAGP HPO OMIM:301500 ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GSN gelsolin IAGP HPO ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility IAGP DNA:missense mutation:cds:p.I105V RGD PMID:11826024 RGD:737707 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		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 HELLPAR HELLP associated long non-coding RNA IAGP HPO ORPHA:244242 Ensembl chr12:102,197,585...102,402,596 JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO
RGD		 PMID:21569485 ORPHA:900, RGD:5147561 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO
RGD		 PMID:21569485 ORPHA:536, RGD:5147561 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMOX1 heme oxygenase 1 IAGP HPO OMIM:614034 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G HNF1A HNF1 homeobox A IAGP RGD PMID:31825269 RGD:329901812 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 OMIM:616026 ORPHA:263455 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO OMIM:619471 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL1B interleukin 1 beta severity IAGP associated with Purpura, Schoenlein-Henoch;DNA:snp:promoter:g.-511C>T RGD PMID:14760799 RGD:7175337 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 IAGP DNA:polymorphism:exon:g.14709C>T (rs315952) RGD PMID:12837270 RGD:6907105 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Proteinuria ClinVar
HPO		 PMID:20023659 PMID:20803156 PMID:21258034 PMID:23014460 PMID:23515051 More... OMIM:613237 OMIM:614455 ORPHA:656 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		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 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 ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795 		JBrowse link
G KANK2 KN motif and ankyrin repeat domains 2 IAGP HPO OMIM:617783 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP HPO ORPHA:86818 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G KIF1B kinesin family member 1B IAGP HPO ORPHA:29072 NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603 		JBrowse link
G KIRREL1 kirre like nephrin family adhesion molecule 1 IAGP HPO OMIM:619201 NCBI chr 1:157,993,645...158,100,262
Ensembl chr 1:157,993,273...158,100,262 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO OMIM:301006 ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO OMIM:609049 OMIM:614199 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase IAGP HPO OMIM:245900 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		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 LMNB2 lamin B2 IAGP HPO OMIM:608709 ORPHA:79087 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 OMIM:256020 ORPHA:2613 ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC106501713 CLCNKB recombination region IAGP ClinVar Annotator: match by term: Proteinuria ClinVar PMID:24830959 PMID:25741868 PMID:26920127 PMID:28381550 PMID:28492532 More... NCBI chr 1:16,044,593...16,059,459 JBrowse link
G LPIN2 lipin 2 IAGP HPO ORPHA:77297 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G LRP2 LDL receptor related protein 2 IAGP HPO OMIM:222448 ORPHA:2143 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G LYZ lysozyme IAGP HPO OMIM:105200 NCBI chr12:69,348,381...69,354,234
Ensembl chr12:69,348,381...69,354,234 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO OMIM:166300 ORPHA:2774 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP HPO OMIM:617609 ORPHA:656 NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667 		JBrowse link
G MAX MYC associated factor X IAGP HPO OMIM:171300 ORPHA:29072 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MDH2 malate dehydrogenase 2 IAGP HPO ORPHA:29072 NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:2728 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO OMIM:134610 ORPHA:342 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		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 MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Proteinuria ClinVar PMID:25741868 PMID:28492532 PMID:30586318 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		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 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:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 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:550 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:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTX2 metaxin 2 IAGP HPO OMIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Proteinuria HPO
ClinVar		 PMID:25741868 PMID:28492532 ORPHA:182050 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO1E myosin IE IAGP HPO OMIM:614131 ORPHA:656 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		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 NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO OMIM:618913 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO OMIM:256550 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:29072 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 NOS3 nitric oxide synthase 3 susceptibility IAGP associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 HPO
RGD		 PMID:10868974 OMIM:189800, RGD:7421530 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO OMIM:610205 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO OMIM:604387 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Proteinuria ClinVar
HPO		 PMID:10652016 PMID:11317351 PMID:12324903 PMID:12631336 PMID:19812541 More... OMIM:256300 ORPHA:656 ORPHA:839 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: Proteinuria ClinVar
HPO		 PMID:11805166 PMID:11854170 PMID:12464671 PMID:14675423 PMID:14978175 More... OMIM:600995 ORPHA:656 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:616730 OMIM:618348 ORPHA:2065 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 OMIM:618177 OMIM:618349 ORPHA:2065 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 OMIM:618178 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 OMIM:618176 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 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:311200 ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO OMIM:617729 ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 IAGP associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A RGD PMID:16461442 RGD:1601085 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154 		JBrowse link
G PAX2 paired box 2 IAGP HPO OMIM:120330 OMIM:616002 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 PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 IAGP HPO OMIM:614652 NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564 		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: Proteinuria ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PLCE1 phospholipase C epsilon 1 IAGP ClinVar Annotator: match by term: Proteinuria ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:610725 ORPHA:656 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO OMIM:212065 ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R RGD PMID:15270786 RGD:8547548 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		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 PRODH proline dehydrogenase 1 IAGP HPO ORPHA:419 NCBI chr22:18,912,781...18,936,553
Ensembl chr22:18,912,777...18,936,553 		JBrowse link
G PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO ORPHA:69126 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		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 PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:536 ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O IAGP HPO OMIM:614196 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 PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127 		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 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 RET ret proto-oncogene IAGP HPO OMIM:171300 ORPHA:276621 ORPHA:29072 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		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 RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		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 SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO OMIM:254900 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO ORPHA:29072 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP HPO ORPHA:29072 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO ORPHA:276621 ORPHA:29072 NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO ORPHA:29072 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:276621 ORPHA:29072 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 IAGP HPO OMIM:617575 NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		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 SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC22A12 solute carrier family 22 member 12 IAGP HPO OMIM:220150 NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353 		JBrowse link
G SLC25A11 solute carrier family 25 member 11 IAGP HPO ORPHA:29072 NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO OMIM:227810 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:613388 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC35A1 solute carrier family 35 member A1 IAGP HPO OMIM:603585 NCBI chr 6:87,472,974...87,512,336
Ensembl chr 6:87,470,623...87,512,336 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:232220 OMIM:232240 ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		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
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO OMIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP HPO ORPHA:66631 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 IAGP HPO OMIM:616818 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126 		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 STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:536 ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 severity
no_association		 IAGP DNA:polymorphism:3' utr:g.2964G>A
DNA:polymorphism:3' utr:2964G>A 		RGD PMID:12900808 PMID:15687724 RGD:7244138, RGD:7244146 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		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 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 SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP HPO OMIM:301028 ORPHA:656 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150 		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 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 TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TLR9 toll like receptor 9 IAGP associated with Lupus Erythematosus, Systemic;DNA:snp:intron:g.+1174A>G (rs352139) RGD PMID:22787315 RGD:7245989 NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP HPO OMIM:171300 ORPHA:29072 NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,514...96,266,047 		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 TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IAGP DNA:polymorphism:cds:p.H131R RGD PMID:15004265 RGD:5147975 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO OMIM:617730 ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO OMIM:617731 ORPHA:2065 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:192315 ORPHA:247691 ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO OMIM:619428 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
G TRPC6 transient receptor potential cation channel subfamily C member 6 IAGP DNA:missense mutations, SNPs:exon, intron:multiple HPO
RGD		 PMID:21511817 OMIM:603965 ORPHA:656, RGD:7247446 NCBI chr11:101,451,564...101,584,007
Ensembl chr11:101,451,564...101,872,562 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034 		JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP HPO OMIM:619377 NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP HPO OMIM:171300 ORPHA:276621 ORPHA:29072 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,667 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP HPO OMIM:613404 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO OMIM:620010 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		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
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614376 OMIM:614377 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO OMIM:618347 ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO OMIM:251300 ORPHA:2065 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Proteinuria ClinVar
HPO		 PMID:25741868 PMID:28492532 OMIM:136680 ORPHA:220 ORPHA:347 ORPHA:656 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO OMIM:619609 ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP HPO OMIM:617006 NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862 		JBrowse link
Proximal renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO OMIM:229600 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
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 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 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 OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G PC pyruvate carboxylase IAGP HPO OMIM:266150 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		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
G UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 IAGP HPO OMIM:615824 NCBI chr 6:33,696,764...33,711,700
Ensembl chr 6:33,694,293...33,711,727 		JBrowse link
Proximal tubulopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO OMIM:229600 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 OMIM:308990 OMIM:310468 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO OMIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665 		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 ETFA electron transfer flavoprotein subunit alpha IAGP HPO OMIM:231680 NCBI chr15:76,215,353...76,311,469
Ensembl chr15:76,188,555...76,311,730 		JBrowse link
G ETFB electron transfer flavoprotein subunit beta IAGP HPO OMIM:231680 NCBI chr19:51,345,155...51,366,388
Ensembl chr19:51,345,169...51,366,388 		JBrowse link
G ETFDH electron transfer flavoprotein dehydrogenase IAGP HPO OMIM:231680 NCBI chr 4:158,672,296...158,709,623
Ensembl chr 4:158,671,968...158,710,742 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO ORPHA:2609 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231222 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G MPI mannose phosphate isomerase IAGP HPO OMIM:602579 NCBI chr15:74,890,042...74,902,219
Ensembl chr15:74,890,005...74,902,219 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:2609 ORPHA:550 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:2609 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:2609 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:550 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:550 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:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP HPO ORPHA:2609 NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP HPO ORPHA:2609 NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,276...5,904,006 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO ORPHA:2609 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP HPO ORPHA:2609 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP HPO ORPHA:2609 NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP HPO ORPHA:2609 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO ORPHA:2609 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO ORPHA:2609 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IAGP HPO ORPHA:2609 NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO ORPHA:2609 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2609 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP HPO ORPHA:2609 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 IAGP HPO ORPHA:2609 NCBI chr 8:124,539,123...124,549,979
Ensembl chr 8:124,539,101...124,580,648 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO ORPHA:2609 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO ORPHA:2609 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP HPO ORPHA:2609 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO ORPHA:2609 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP HPO ORPHA:2609 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP HPO ORPHA:2609 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO ORPHA:2609 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP HPO ORPHA:2609 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP HPO ORPHA:2609 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP HPO ORPHA:2609 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		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 PMM2 phosphomannomutase 2 IAGP HPO OMIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO OMIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO OMIM:612075 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:613388 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP HPO ORPHA:2609 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO ORPHA:2609 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
Purple urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALAD aminolevulinate dehydratase IAGP HPO ORPHA:100924 NCBI chr 9:113,386,312...113,401,284
Ensembl chr 9:113,386,312...113,401,290 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:79277 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G UROD uroporphyrinogen decarboxylase IAGP HPO ORPHA:95159 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO ORPHA:79277 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
Pyelonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP HPO ORPHA:90348 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711 		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 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 CFI complement factor I IAGP HPO OMIM:610984 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		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 EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO ORPHA:90349 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G ELN elastin IAGP HPO ORPHA:90348 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90348 ORPHA:90349 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		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 HOXA13 homeobox A13 IAGP HPO OMIM:140000 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		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 KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO OMIM:181270 ORPHA:2036 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO ORPHA:90349 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		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...15,858,438 		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 XDH xanthine dehydrogenase IAGP HPO OMIM:278300 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 IAGP HPO OMIM:301111 NCBI chr  X:71,239,624...71,255,290
Ensembl chr  X:71,239,624...71,255,146 		JBrowse link
Pyuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BANK1 B cell scaffold protein with ankyrin repeats 1 IAGP HPO ORPHA:536 NCBI chr 4:101,790,730...102,074,812
Ensembl chr 4:101,411,286...102,074,812 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:536 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G C4B complement C4B (Chido/Rodgers blood group) IAGP HPO ORPHA:536 NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418 		JBrowse link
G CR2 complement C3d receptor 2 IAGP HPO ORPHA:536 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:536 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 susceptibility IAGP DNA:polymorphism:3' utr:1208C>T RGD PMID:22325052 RGD:7207860 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G DNASE1 deoxyribonuclease 1 IAGP HPO ORPHA:536 NCBI chr16:3,611,760...3,665,461
Ensembl chr16:3,611,728...3,680,143 		JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor IAGP HPO ORPHA:536 NCBI chr11:128,458,765...128,587,558
Ensembl chr11:128,458,761...128,587,558 		JBrowse link
G FCGR2B Fc gamma receptor IIb IAGP HPO ORPHA:536 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FCGR3B Fc gamma receptor IIIb IAGP HPO ORPHA:536 NCBI chr 1:161,623,196...161,631,963
Ensembl chr 1:161,623,196...161,631,963 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:536 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) IAGP HPO ORPHA:536 NCBI chr14:105,741,473...105,743,070
Ensembl chr14:105,736,343...105,743,071 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:536 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:536 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:536 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G ITGAM integrin subunit alpha M IAGP HPO ORPHA:536 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G JAZF1 JAZF zinc finger 1 IAGP HPO ORPHA:536 NCBI chr 7:27,830,577...28,180,795
Ensembl chr 7:27,830,573...28,180,795 		JBrowse link
G KIAA0319L KIAA0319 like IAGP HPO ORPHA:536 NCBI chr 1:35,433,492...35,557,661
Ensembl chr 1:35,393,883...35,557,950 		JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP HPO ORPHA:536 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO ORPHA:536 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:536 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PXK PX domain containing serine/threonine kinase like IAGP HPO ORPHA:536 NCBI chr 3:58,332,892...58,426,127
Ensembl chr 3:58,332,880...58,426,127 		JBrowse link
G SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:536 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:536 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		JBrowse link
G TLR7 toll like receptor 7 IAGP HPO ORPHA:536 NCBI chr  X:12,867,072...12,890,361
Ensembl chr  X:12,867,072...12,890,361 		JBrowse link
G TNFAIP3 TNF alpha induced protein 3 IAGP HPO ORPHA:536 NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314 		JBrowse link
G TNFSF4 TNF superfamily member 4 IAGP HPO ORPHA:536 NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583 		JBrowse link
G TNIP1 TNFAIP3 interacting protein 1 IAGP HPO ORPHA:536 NCBI chr 5:151,029,943...151,087,685
Ensembl chr 5:151,029,945...151,093,577 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:536 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UBE2L3 ubiquitin conjugating enzyme E2 L3 IAGP HPO ORPHA:536 NCBI chr22:21,549,447...21,624,034
Ensembl chr22:21,549,447...21,624,034 		JBrowse link
Recurrent cystitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PEPD peptidase D IAGP HPO ORPHA:742 NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823 		JBrowse link
Recurrent myoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO OMIM:607426 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP HPO OMIM:620300 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465 		JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: Myoglobinuria, recurrent HPO
ClinVar		 PMID:10980727 PMID:32906214 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 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
Recurrent pyelonephritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCL8 C-X-C motif chemokine ligand 8 susceptibility IAGP DNA:SNP:promoter:g.-251T>A (rs4073) RGD PMID:22325052 RGD:7207860 NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO ORPHA:48652 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
Recurrent urinary tract infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox IAGP HPO OMIM:615873 ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		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 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 AMN amnion associated transmembrane protein IAGP HPO OMIM:618882 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596 		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 ARL3 ADP ribosylation factor like GTPase 3 IAGP HPO OMIM:618161 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		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 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 BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		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 BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		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 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 BTK Bruton tyrosine kinase IAGP HPO OMIM:300755 OMIM:307200 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		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 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 CFI complement factor I IAGP HPO OMIM:610984 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP HPO ORPHA:2970 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit IAGP HPO OMIM:191800 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G CIITA class II major histocompatibility complex transactivator IAGP HPO OMIM:209920 NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021 		JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		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 CLEC7A C-type lectin domain containing 7A IAGP HPO ORPHA:1334 NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258 		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 CR2 complement C3d receptor 2 IAGP HPO OMIM:614699 NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895 		JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		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 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 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		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 EBF3 EBF transcription factor 3 IAGP ClinVar Annotator: match by term: Urinary tract infections ClinVar PMID:28017370 PMID:32581362 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO ORPHA:90349 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		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 OMIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EN1 engrailed homeobox 1 IAGP HPO OMIM:619218 NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		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 EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		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 FARSB phenylalanyl-tRNA synthetase subunit beta IAGP HPO OMIM:613658 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90349 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987 		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 FLVCR1 FLVCR choline and heme transporter 1 IAGP HPO OMIM:609033 NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G FOCAD focadhesin IAGP HPO OMIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G FOXC2 forkhead box C2 IAGP HPO ORPHA:33001 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO OMIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		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 ORPHA:93599 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		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 HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:29207 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO ORPHA:2438 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 IAGP HPO OMIM:614075 NCBI chr10:102,065,349...102,068,036
Ensembl chr10:102,065,349...102,068,036 		JBrowse link
G HPSE2 heparanase 2 (inactive) IAGP HPO OMIM:236730 ORPHA:2704 NCBI chr10:98,457,077...99,315,951
Ensembl chr10:98,457,077...99,235,862 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO OMIM:616854 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		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 IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G IL17F interleukin 17F IAGP HPO ORPHA:1334 NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689 		JBrowse link
G IL17RA interleukin 17 receptor A IAGP HPO ORPHA:1334 NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP HPO ORPHA:1334 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G IL2RB interleukin 2 receptor subunit beta IAGP HPO OMIM:618495 NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118 		JBrowse link
G ISL1 ISL LIM homeobox 1 IAGP HPO ORPHA:93930 NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO OMIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		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 KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G LAMA3 laminin subunit alpha 3 IAGP HPO ORPHA:79404 NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222 		JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO ORPHA:79404 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425 		JBrowse link
G LAMC2 laminin subunit gamma 2 IAGP HPO ORPHA:79404 NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127 		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 LMNB1 lamin B1 IAGP HPO ORPHA:99027 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 IAGP HPO OMIM:615112 ORPHA:2704 NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260 		JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP HPO ORPHA:90349 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509 		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 MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPK8 mitogen-activated protein kinase 8 IAGP associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A RGD PMID:31784499 RGD:150340677 NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360 		JBrowse link
G MC2R melanocortin 2 receptor IAGP HPO ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		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 MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO OMIM:619527 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO OMIM:176450 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		JBrowse link
G MSN moesin IAGP HPO OMIM:300988 NCBI chr  X:65,588,377...65,741,931
Ensembl chr  X:65,588,377...65,741,931 		JBrowse link
G MYL9 myosin light chain 9 IAGP HPO OMIM:619365 NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO OMIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NBN nibrin IAGP HPO OMIM:251260 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		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 NNT nicotinamide nucleotide transhydrogenase IAGP HPO ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		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 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma IAGP HPO OMIM:619802 NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980 		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 OMIM:613095 ORPHA:730 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		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 PNP purine nucleoside phosphorylase IAGP HPO OMIM:613179 NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP HPO OMIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO OMIM:617157 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		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 RELB RELB proto-oncogene, NF-kB subunit IAGP HPO OMIM:617585 NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192 		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 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 RFX5 regulatory factor X5 IAGP HPO OMIM:209920 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein IAGP HPO OMIM:209920 NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869 		JBrowse link
G RFXAP regulatory factor X associated protein IAGP HPO OMIM:209920 NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO OMIM:617053 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SATB1 SATB homeobox 1 IAGP HPO OMIM:619229 NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
G SLC35C1 solute carrier family 35 member C1 IAGP HPO ORPHA:99843 NCBI chr11:45,804,072...45,813,016
Ensembl chr11:45,804,072...45,813,016 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP HPO OMIM:220100 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP HPO ORPHA:90045 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197 		JBrowse link
G SLC5A2 solute carrier family 5 member 2 IAGP HPO ORPHA:69076 NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 IAGP HPO OMIM:220100 NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767 		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 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP HPO OMIM:619293 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624 		JBrowse link
G SOX17 SRY-box transcription factor 17 IAGP HPO OMIM:613674 NCBI chr 8:54,457,935...54,460,892
Ensembl chr 8:54,457,935...54,460,892 		JBrowse link
G STAR steroidogenic acute regulatory protein IAGP HPO ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP HPO OMIM:612783 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		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 THOC6 THO complex subunit 6 IAGP HPO OMIM:613680 ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755 		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 TNXB tenascin XB IAGP HPO OMIM:615963 NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:93930 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G TRAF3IP2 TRAF3 interacting protein 2 IAGP HPO ORPHA:1334 NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO OMIM:616777 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
G UBAP2L ubiquitin associated protein 2 like IAGP HPO OMIM:620494 NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510 		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 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
G WASF1 WASP family member 1 IAGP HPO OMIM:618707 NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP HPO ORPHA:3463 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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
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
Red urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPOX coproporphyrinogen oxidase IAGP HPO OMIM:618892 NCBI chr 3:98,570,488...98,593,611
Ensembl chr 3:98,579,446...98,593,648 		JBrowse link
G UROD uroporphyrinogen decarboxylase IAGP HPO ORPHA:95159 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO OMIM:263700 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
Red-brown urine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228302 ORPHA:228305 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:79277 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G UROD uroporphyrinogen decarboxylase IAGP HPO ORPHA:95159 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575 		JBrowse link
G UROS uroporphyrinogen III synthase IAGP HPO ORPHA:79277 NCBI chr10:125,784,980...125,823,258
Ensembl chr10:125,784,980...125,823,288 		JBrowse link
Renal calcium wasting term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY10 adenylate cyclase 10 IAGP HPO ORPHA:2197 NCBI chr 1:167,809,386...167,914,134
Ensembl chr 1:167,809,386...167,914,215 		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
Renal Fanconi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCS1L BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone IAGP HPO ORPHA:53693 NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 ORPHA:411629 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO OMIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		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 HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:263455 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		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 POLRMT RNA polymerase mitochondrial IAGP HPO OMIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP ClinVar Annotator: match by term: Renal Fanconi syndrome ClinVar
HPO		 PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 OMIM:268315 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
Renal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA12 ATP binding cassette subfamily A member 12 IAGP HPO ORPHA:313 NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626 		JBrowse link
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP HPO ORPHA:86818 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403 		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 ALDH4A1 aldehyde dehydrogenase 4 family member A1 IAGP HPO ORPHA:79101 NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724 		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 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 ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP HPO OMIM:620056 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 OMIM:203800 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP HPO ORPHA:313 NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP HPO ORPHA:313 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO ORPHA:86818 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G AMN amnion associated transmembrane protein IAGP HPO OMIM:618882 NCBI chr14:102,922,663...102,930,842
Ensembl chr14:102,922,663...102,933,596 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP HPO OMIM:615382 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G AP1S3 adaptor related protein complex 1 subunit sigma 3 IAGP HPO ORPHA:247353 NCBI chr 2:223,755,326...223,837,582
Ensembl chr 2:223,667,680...223,838,027 		JBrowse link
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP HPO OMIM:600740 NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		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 APOE apolipoprotein E IAGP HPO OMIM:611771 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APRT adenine phosphoribosyltransferase IAGP HPO OMIM:614723 ORPHA:976 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937 		JBrowse link
G AQP2 aquaporin 2 IAGP HPO ORPHA:223 NCBI chr12:49,950,737...49,958,878
Ensembl chr12:49,950,737...49,958,878 		JBrowse link
G ASPRV1 aspartic peptidase retroviral like 1 IAGP HPO ORPHA:313 NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 IAGP HPO ORPHA:223 NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
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 BBIP1 BBSome interacting protein 1 IAGP HPO OMIM:615995 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO OMIM:615987 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO OMIM:615986 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		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 BICC1 BicC family RNA binding protein 1 IAGP HPO OMIM:601331 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 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 BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		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 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 BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181 		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 C3 complement C3 IAGP HPO OMIM:613779 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562 		JBrowse link
G C4A complement C4A (Chido/Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CAV1 caveolin 1 IAGP HPO ORPHA:220393 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:1454 ORPHA:2318 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCN2 cellular communication network factor 2 IAGP HPO ORPHA:220393 NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372 		JBrowse link
G CCNQ cyclin Q IAGP HPO ORPHA:140952 NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CCR6 C-C motif chemokine receptor 6 IAGP HPO ORPHA:220393 NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141 		JBrowse link
G CD2AP CD2 associated protein IAGP HPO OMIM:607832 NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 ORPHA:99879 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:474 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO OMIM:615991 ORPHA:2318 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFHR5 complement factor H related 5 IAGP HPO OMIM:614809 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 HPO OMIM:610984 NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP HPO OMIM:617159 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP HPO ORPHA:2970 NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 OMIM:308990 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 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 CLDN10 claudin 10 IAGP HPO OMIM:617671 NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759 		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 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 CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO OMIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO OMIM:611773 ORPHA:73229 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP HPO OMIM:104200 OMIM:620536 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 HPO OMIM:203780 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 OMIM:301050 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		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 ClinVar Annotator: match by term: Renal insufficiency ClinVar PMID:25741868 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 CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:255110 OMIM:608836 ORPHA:228302 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP HPO OMIM:219730 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:900 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 ORPHA:411634 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CUBN cubilin IAGP HPO OMIM:618884 NCBI chr10:16,823,966...17,129,811
Ensembl chr10:16,823,966...17,129,811 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 IAGP HPO ORPHA:313 NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317 		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 DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO OMIM:613861 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306 		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 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 DNASE1L3 deoxyribonuclease 1L3 IAGP HPO ORPHA:36412 NCBI chr 3:58,192,257...58,210,972
Ensembl chr 3:58,192,257...58,214,697 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:474 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:474 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO ORPHA:474 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010 		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 EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase IAGP HPO OMIM:615605 NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:96147 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO OMIM:226980 ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		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 OMIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		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 ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO OMIM:610965 ORPHA:84 ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 ORPHA:90321 ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 ORPHA:90321 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO ORPHA:107 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G FAH fumarylacetoacetate hydrolase IAGP HPO OMIM:276700 NCBI chr15:80,152,789...80,186,949
Ensembl chr15:80,152,490...80,186,946 		JBrowse link
G FAM20A FAM20A golgi associated secretory pathway pseudokinase IAGP HPO OMIM:204690 ORPHA:1031 NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367 		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 FAS Fas cell surface death receptor IAGP HPO ORPHA:117 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		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 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 HPO OMIM:601894 ORPHA:84090 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO ORPHA:3027 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP HPO OMIM:154020 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		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 GATA3 GATA binding protein 3 IAGP HPO ORPHA:2237 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GATM glycine amidinotransferase IAGP HPO OMIM:134600 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO ORPHA:99879 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GLA galactosidase alpha IAGP HPO OMIM:301500 ORPHA:324 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP HPO OMIM:260000 ORPHA:93599 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		JBrowse link
G GSN gelsolin IAGP HPO OMIM:105120 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		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 HBB hemoglobin subunit beta IAGP HPO OMIM:603903 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 ORPHA:36426 ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 IAGP HPO ORPHA:900 NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775 		JBrowse link
G HLA-DPB1 major histocompatibility complex, class II, DP beta 1 IAGP HPO ORPHA:900 NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:220393 ORPHA:397 ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMBS hydroxymethylbilane synthase IAGP HPO ORPHA:79276 NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO ORPHA:261265 ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HOXA13 homeobox A13 IAGP HPO OMIM:140000 NCBI chr 7:27,194,364...27,200,091
Ensembl chr 7:27,193,503...27,200,091 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP HPO OMIM:300323 ORPHA:510 ORPHA:79233 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G HPS1 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 IAGP HPO OMIM:203300 NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963 		JBrowse link
G HPSE2 heparanase 2 (inactive) IAGP HPO ORPHA:2704 NCBI chr10:98,457,077...99,315,951
Ensembl chr10:98,457,077...99,235,862 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO OMIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 IAGP HPO ORPHA:320 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		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 IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO ORPHA:474 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 ORPHA:474 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 OMIM:615996 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO OMIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:474 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP HPO ORPHA:36426 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL36RN interleukin 36 receptor antagonist IAGP HPO ORPHA:247353 NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382 		JBrowse link
G INF2 inverted formin 2 IAGP ClinVar Annotator: match by term: Renal failure ClinVar PMID:20023659 PMID:20803156 PMID:21258034 PMID:23014460 PMID:23515051 More... NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:1454 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 IAGP HPO ORPHA:93552 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP HPO ORPHA:220393 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		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 KARS1 lysyl-tRNA synthetase 1 IAGP HPO OMIM:619147 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP HPO ORPHA:86818 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO OMIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:474 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase IAGP HPO OMIM:245900 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LDHA lactate dehydrogenase A IAGP HPO OMIM:612933 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425 		JBrowse link
G LHX1 LIM homeobox 1 IAGP HPO ORPHA:261265 NCBI chr17:36,936,785...36,944,612
Ensembl chr17:36,936,785...36,944,612 		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 LIPN lipase family member N IAGP HPO ORPHA:313 NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 OMIM:256020 ORPHA:2613 ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: Renal failure ClinVar PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 IAGP HPO OMIM:615112 ORPHA:2704 NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260 		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 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
G MAPKBP1 mitogen-activated protein kinase binding protein 1 IAGP HPO OMIM:617271 NCBI chr15:41,774,484...41,827,855
Ensembl chr15:41,774,434...41,827,855 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO OMIM:618681 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Renal failure HPO
ClinVar		 PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... OMIM:134610 ORPHA:117 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:99879 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		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 OMIM:194050 ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO OMIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MME membrane metalloendopeptidase IAGP HPO ORPHA:69063 NCBI chr 3:155,024,202...155,183,729
Ensembl chr 3:155,024,124...155,183,704 		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 MMUT methylmalonyl-CoA mutase IAGP HPO ORPHA:289916 ORPHA:79312 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MOCOS molybdenum cofactor sulfurase IAGP HPO OMIM:603592 NCBI chr18:36,187,497...36,272,157
Ensembl chr18:36,187,497...36,272,157 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		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 MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO ORPHA:254857 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953 		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 MYD88 MYD88 innate immune signal transduction adaptor IAGP HPO ORPHA:33226 NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP HPO ORPHA:182050 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		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 NFS1 NFS1 cysteine desulfurase IAGP HPO OMIM:619386 NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355 		JBrowse link
G NIPAL4 NIPA like domain containing 4 IAGP HPO ORPHA:313 NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:191900 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO OMIM:610205 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO OMIM:266900 OMIM:609583 ORPHA:220497 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 OMIM:208540 OMIM:604387 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP HPO OMIM:256300 NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO OMIM:620235 ORPHA:99845 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
G OCLN occludin IAGP HPO OMIM:251290 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:309000 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		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 PAX2 paired box 2 IAGP HPO ORPHA:1475 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PAX6 paired box 6 IAGP HPO OMIM:194072 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		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 PEX7 peroxisomal biogenesis factor 7 IAGP HPO ORPHA:773 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 IAGP HPO OMIM:261670 NCBI chr 7:44,062,727...44,065,567
Ensembl chr 7:44,062,727...44,065,567 		JBrowse link
G PGK1 phosphoglycerate kinase 1 IAGP HPO OMIM:300653 ORPHA:713 NCBI chr  X:78,104,248...78,129,295
Ensembl chr  X:77,910,739...78,129,295 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP HPO ORPHA:773 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412 		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: Renal insufficiency ClinVar
HPO		 OMIM:173900 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 OMIM:613095 ORPHA:730 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		JBrowse link
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin IAGP HPO OMIM:263200 ORPHA:731 NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:2377 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		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 PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO OMIM:300661 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 PRTN3 proteinase 3 IAGP HPO ORPHA:900 NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 ORPHA:900 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		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 RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		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 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 RMND1 required for meiotic nuclear division 1 homolog IAGP HPO OMIM:614922 NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO OMIM:619113 ORPHA:1454 ORPHA:220497 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO OMIM:107480 ORPHA:857 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334 		JBrowse link
G SAT1 spermidine/spermine N1-acetyltransferase 1 IAGP HPO ORPHA:93552 NCBI chr  X:23,783,173...23,786,210
Ensembl chr  X:23,783,173...23,786,210 		JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP HPO OMIM:254900 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:526 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO OMIM:177200 ORPHA:526 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294 		JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:526 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO OMIM:615993 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SDR9C7 short chain dehydrogenase/reductase family 9C member 7 IAGP HPO ORPHA:313 NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		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 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 SIX1 SIX homeobox 1 IAGP HPO ORPHA:107 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SIX5 SIX homeobox 5 IAGP HPO OMIM:610896 ORPHA:107 NCBI chr19:45,764,785...45,769,252
Ensembl chr19:45,764,785...45,769,252 		JBrowse link
G SLC30A9 solute carrier family 30 member 9 IAGP HPO OMIM:617595 NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:613388 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO OMIM:232240 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC3A1 solute carrier family 3 member 1 IAGP HPO OMIM:220100 NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494 		JBrowse link
G SLC41A1 solute carrier family 41 member 1 IAGP HPO OMIM:619468 NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748 		JBrowse link
G SLC5A1 solute carrier family 5 member 1 IAGP HPO ORPHA:35710 NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029 		JBrowse link
G SLC7A9 solute carrier family 7 member 9 IAGP HPO OMIM:220100 NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767 		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 SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO OMIM:242900 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		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 SPP1 secreted phosphoprotein 1 IAGP HPO ORPHA:93552 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 ORPHA:93552 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,178,435 		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 STS steroid sulfatase IAGP HPO ORPHA:281090 NCBI chr  X:7,147,290...7,354,641
Ensembl chr  X:7,147,237...7,804,358 		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 SULT2B1 sulfotransferase family 2B member 1 IAGP HPO ORPHA:313 NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425 		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 TBX1 T-box transcription factor 1 IAGP HPO OMIM:188400 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX18 T-box transcription factor 18 IAGP HPO OMIM:143400 NCBI chr 6:84,732,496...84,764,598
Ensembl chr 6:84,687,351...84,764,598 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TGM1 transglutaminase 1 IAGP HPO ORPHA:313 NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO ORPHA:2318 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:608091 ORPHA:2318 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2318 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO ORPHA:220497 ORPHA:2318 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM260 transmembrane protein 260 IAGP HPO OMIM:617478 NCBI chr14:56,579,525...56,663,165
Ensembl chr14:56,488,354...56,650,606 		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 TMEM67 transmembrane protein 67 IAGP HPO OMIM:602152 OMIM:615991 ORPHA:1454 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Renal failure ClinVar
HPO		 PMID:10227394 PMID:10570911 PMID:15798777 PMID:17304050 PMID:23341583 More... 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 HPO ORPHA:474 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		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 UMOD uromodulin IAGP HPO OMIM:162000 NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO ORPHA:3027 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		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
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:474 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO OMIM:613610 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO OMIM:251300 ORPHA:83472 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WT1 WT1 transcription factor IAGP HPO OMIM:194072 OMIM:256370 ORPHA:347 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XDH xanthine dehydrogenase IAGP associated with Hypertension, DNA:SNP: :66292C>G RGD PMID:18712049 RGD:7247654 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		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
G ZNF423 zinc finger protein 423 IAGP HPO ORPHA:2318 NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		JBrowse link
G ZNF592 zinc finger protein 592 IAGP HPO ORPHA:83472 NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445 		JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426 		JBrowse link
Renal magnesium wasting term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP HPO OMIM:618314 ORPHA:564178 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		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 FXYD2 FXYD domain containing ion transport regulator 2 IAGP HPO OMIM:154020 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698 		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 KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO OMIM:263800 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
Renal phosphate wasting term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 OMIM:300554 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		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 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 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 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
G FGF23 fibroblast growth factor 23 IAGP HPO OMIM:193100 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712 		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 GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO OMIM:258480 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		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 HPO OMIM:612287 NCBI chr17:74,748,628...74,769,353
Ensembl chr17:74,748,628...74,769,353 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO OMIM:307800 ORPHA:89936 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 IAGP HPO OMIM:612286 OMIM:613388 OMIM:616963 ORPHA:3337 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		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
Renal potassium wasting term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP HPO OMIM:618314 ORPHA:564178 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO OMIM:607364 ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO OMIM:612780 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO OMIM:263800 ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
Renal salt wasting term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSND barttin CLCNK type accessory subunit beta IAGP HPO OMIM:602522 ORPHA:89938 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP HPO OMIM:613090 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 OMIM:607364 OMIM:613090 ORPHA:89938 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO OMIM:613743 ORPHA:168558 ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 IAGP HPO ORPHA:90795 NCBI chr 8:142,872,357...142,879,825
Ensembl chr 8:142,872,356...142,879,846 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP HPO OMIM:203400 OMIM:610600 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
G CYP21A2 cytochrome P450 family 21 subfamily A member 2 IAGP HPO OMIM:201910 NCBI chr 6:32,038,415...32,041,644
Ensembl chr 6:32,038,327...32,041,644 		JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 IAGP HPO ORPHA:90791 NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035 		JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO OMIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO OMIM:612780 ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNJ16 potassium inwardly rectifying channel subfamily J member 16 IAGP HPO OMIM:619406 NCBI chr17:70,075,225...70,135,608
Ensembl chr17:70,053,429...70,135,608 		JBrowse link
G MC2R melanocortin 2 receptor IAGP HPO ORPHA:361 NCBI chr18:13,882,044...13,915,707
Ensembl chr18:13,882,044...13,915,707 		JBrowse link
G MRAP melanocortin 2 receptor accessory protein IAGP HPO ORPHA:361 NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784 		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 NNT nicotinamide nucleotide transhydrogenase IAGP HPO OMIM:614736 ORPHA:361 NCBI chr 5:43,602,675...43,707,396
Ensembl chr 5:43,602,692...43,707,405 		JBrowse link
G NR0B1 nuclear receptor subfamily 0 group B member 1 IAGP HPO OMIM:300200 NCBI chr  X:30,304,206...30,309,390
Ensembl chr  X:30,304,206...30,309,390 		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 SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO OMIM:264350 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730 		JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO OMIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078 		JBrowse link
G STAR steroidogenic acute regulatory protein IAGP HPO OMIM:201710 ORPHA:361 NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992 		JBrowse link
G TXNRD2 thioredoxin reductase 2 IAGP HPO ORPHA:361 NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820 		JBrowse link
Renal sodium wasting term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 IAGP HPO ORPHA:556030 NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843 		JBrowse link
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 HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 IAGP HPO ORPHA:320 NCBI chr16:67,429,801...67,437,553
Ensembl chr16:67,430,652...67,437,553 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP HPO OMIM:612780 ORPHA:199343 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		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
Renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Renal tubular acidosis ClinVar
HPO		 PMID:9916796 PMID:16611712 PMID:18368028 PMID:19364879 PMID:26571219 More... OMIM:267300 NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP HPO OMIM:616457 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP HPO OMIM:255120 ORPHA:156 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO ORPHA:1493 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO OMIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:118450 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KYNU kynureninase IAGP HPO ORPHA:79155 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833 		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 NADK2 NAD kinase 2, mitochondrial IAGP HPO ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO OMIM:610205 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO ORPHA:264580 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
G RMND1 required for meiotic nuclear division 1 homolog IAGP HPO OMIM:614922 NCBI chr 6:151,404,762...151,452,126
Ensembl chr 6:151,398,898...151,452,158 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 (Diego blood group) IAGP ClinVar Annotator: match by term: Renal tubular acidosis ClinVar PMID:9312167 PMID:9600966 PMID:12750988 PMID:14734552 PMID:16420521 More... NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141 		JBrowse link
G TAOK1 TAO kinase 1 IAGP HPO OMIM:619575 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903 		JBrowse link
G VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog IAGP HPO OMIM:613404 NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952 		JBrowse link
G VPS33B VPS33B late endosome and lysosome associated IAGP HPO OMIM:208085 NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603 		JBrowse link
Renal tubular dysfunction 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:99885 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125 		JBrowse link
G COA8 cytochrome c oxidase assembly factor 8 IAGP HPO ORPHA:436271 NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523 		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 GATM glycine amidinotransferase IAGP HPO OMIM:134600 NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G INS insulin IAGP HPO ORPHA:99885 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Renal tubular disease ClinVar PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:99885 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO ORPHA:289916 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO OMIM:614886 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PHEX phosphate regulating endopeptidase X-linked IAGP HPO OMIM:307800 NCBI chr  X:22,032,325...22,251,310
Ensembl chr  X:22,032,325...22,494,713 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO OMIM:227810 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		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
G SLC5A2 solute carrier family 5 member 2 IAGP HPO ORPHA:69076 NCBI chr16:31,483,123...31,490,769
Ensembl chr16:31,483,002...31,490,860 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G TRMT5 tRNA methyltransferase 5 IAGP HPO OMIM:616539 NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170 		JBrowse link
Renovascular hypertension 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 OMIM:264800 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
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 COL3A1 collagen type III alpha 1 chain IAGP HPO ORPHA:286 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		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 FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		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 NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		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 STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		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 TOM1 target of myb1 membrane trafficking protein IAGP HPO ORPHA:391487 NCBI chr22:35,299,275...35,347,973
Ensembl chr22:35,299,275...35,347,992 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		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
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:264800 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO OMIM:264800 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138 		JBrowse link
G YY1AP1 YY1 associated protein 1 IAGP HPO OMIM:602531 NCBI chr 1:155,659,442...155,688,996
Ensembl chr 1:155,659,446...155,689,334 		JBrowse link
Saccharopinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP ClinVar Annotator: match by term: Saccharopinuria ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308 		JBrowse link
Stage 1 chronic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 PKDCC protein kinase domain containing, cytoplasmic IAGP HPO OMIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517 		JBrowse link
Stage 2 chronic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit IAGP HPO OMIM:191800 NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO OMIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
Stage 3 chronic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUP160 nucleoporin 160 IAGP HPO OMIM:618178 NCBI chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO OMIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G SLC30A9 solute carrier family 30 member 9 IAGP HPO OMIM:617595 NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 IAGP HPO OMIM:620366 NCBI chr 7:151,058,200...151,076,527
Ensembl chr 7:151,057,210...151,076,526 		JBrowse link
Stage 4 chronic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP HPO ORPHA:411536 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
Stage 5 chronic kidney disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 IAGP HPO OMIM:603278 ORPHA:656 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		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 AHI1 Abelson helper integration site 1 IAGP HPO OMIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ALG5 ALG5 dolichyl-phosphate beta-glucosyltransferase IAGP HPO OMIM:620056 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 ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar
HPO		 PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... 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 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 IAGP HPO OMIM:615382 NCBI chr 9:98,732,009...98,796,555
Ensembl chr 9:98,731,329...98,796,965 		JBrowse link
G ANLN anillin, actin binding protein IAGP HPO OMIM:616032 ORPHA:656 NCBI chr 7:36,389,862...36,453,791
Ensembl chr 7:36,389,821...36,453,791 		JBrowse link
G APOL1 apolipoprotein L1 IAGP HPO OMIM:612551 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 HPO OMIM:615244 ORPHA:656 NCBI chr17:81,867,721...81,871,337
Ensembl chr17:81,867,721...81,871,378 		JBrowse link
G AVIL advillin IAGP HPO OMIM:618594 NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO OMIM:615995 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		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 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 CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO OMIM:612285 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CD151 CD151 molecule (Raph blood group) IAGP HPO OMIM:609057 NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831 		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 CD81 CD81 molecule IAGP HPO OMIM:613496 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		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 CEP290 centrosomal protein 290 IAGP HPO OMIM:610188 OMIM:610189 ORPHA:3156 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP83 centrosomal protein 83 IAGP HPO OMIM:615862 NCBI chr12:94,265,662...94,460,454
Ensembl chr12:94,306,449...94,459,988 		JBrowse link
G CFHR5 complement factor H related 5 IAGP HPO OMIM:614809 NCBI chr 1:196,975,034...197,009,678
Ensembl chr 1:196,975,010...197,009,678 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP HPO OMIM:300009 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 COL4A3 collagen type IV alpha 3 chain IAGP HPO OMIM:104200 OMIM:620536 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: Stage 5 chronic kidney disease ClinVar
HPO		 PMID:24033266 PMID:25741868 PMID:28492532 OMIM:203780 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 OMIM:301050 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 COQ6 coenzyme Q6, monooxygenase IAGP HPO OMIM:614650 NCBI chr14:73,949,926...73,963,670
Ensembl chr14:73,949,926...73,963,670 		JBrowse link
G COQ8B coenzyme Q8B IAGP HPO OMIM:615573 ORPHA:656 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228302 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		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 OMIM:219800 OMIM:219900 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 OMIM:616217 ORPHA:84081 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		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 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 DSTYK dual serine/threonine and tyrosine protein kinase IAGP HPO OMIM:610805 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702 		JBrowse link
G DZIP1L DAZ interacting zinc finger protein 1 like IAGP HPO OMIM:617610 ORPHA:731 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
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 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 FAN1 FANCD2 and FANCI associated nuclease 1 IAGP HPO OMIM:614817 NCBI chr15:30,903,852...30,943,108
Ensembl chr15:30,890,559...30,943,108 		JBrowse link
G FN1 fibronectin 1 IAGP HPO OMIM:601894 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		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 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 ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar PMID:25741868 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 GLIS2 GLIS family zinc finger 2 IAGP HPO OMIM:611498 NCBI chr16:4,314,761...4,339,595
Ensembl chr16:4,314,761...4,339,597 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO OMIM:619603 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GSN gelsolin IAGP HPO OMIM:105120 ORPHA:85448 NCBI chr 9:121,201,483...121,332,842
Ensembl chr 9:121,207,794...121,332,843 		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 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 OMIM:266920 ORPHA:730 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO OMIM:614099 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO OMIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G INF2 inverted formin 2 IAGP HPO OMIM:613237 OMIM:614455 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 OMIM:602088 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 OMIM:609254 ORPHA:3156 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 IAGP HPO OMIM:118450 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO OMIM:301006 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO OMIM:620049 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP HPO OMIM:609049 OMIM:614199 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LIPJ lipase family member J IAGP ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar PMID:28492532 NCBI chr10:88,582,907...88,623,184
Ensembl chr10:88,586,753...88,606,976 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:256020 ORPHA:2614 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC130004283 ATAC-STARR-seq lymphoblastoid active region 3723 IAGP ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar PMID:28492532 NCBI chr10:88,582,869...88,583,118 JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO OMIM:615994 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
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
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP HPO OMIM:617609 ORPHA:656 NCBI chr 7:78,017,055...79,453,667
Ensembl chr 7:78,017,055...79,453,667 		JBrowse link
G MAPKBP1 mitogen-activated protein kinase binding protein 1 IAGP HPO OMIM:617271 NCBI chr15:41,774,484...41,827,855
Ensembl chr15:41,774,434...41,827,855 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO OMIM:249100 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO OMIM:251000 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		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 MYO1E myosin IE IAGP HPO OMIM:614131 ORPHA:656 NCBI chr15:59,132,434...59,372,871
Ensembl chr15:59,132,434...59,372,871 		JBrowse link
G MYOCD myocardin IAGP HPO OMIM:618719 NCBI chr17:12,665,890...12,768,949
Ensembl chr17:12,665,890...12,768,949 		JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO OMIM:618913 ORPHA:3337 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455 		JBrowse link
G NEK8 NIMA related kinase 8 IAGP HPO OMIM:613824 NCBI chr17:28,728,788...28,743,455
Ensembl chr17:28,725,897...28,743,455 		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 NOS1AP nitric oxide synthase 1 adaptor protein IAGP HPO OMIM:619155 NCBI chr 1:162,069,691...162,370,475
Ensembl chr 1:162,069,691...162,370,475 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO OMIM:256100 OMIM:266900 OMIM:609583 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 OMIM:208540 OMIM:267010 OMIM:604387 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 OMIM:606966 OMIM:606996 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 HPO OMIM:600995 ORPHA:656 NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:616730 OMIM:618348 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 OMIM:618177 OMIM:618349 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 OMIM:616893 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 OMIM:618176 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 OMIM:616892 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:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO OMIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PAX2 paired box 2 IAGP HPO OMIM:120330 OMIM:616002 ORPHA:656 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Stage 5 chronic kidney disease 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 OMIM:613095 ORPHA:730 NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777 		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 PLCE1 phospholipase C epsilon 1 IAGP HPO OMIM:610725 ORPHA:656 NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO OMIM:615559 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O IAGP HPO OMIM:614196 ORPHA:656 NCBI chr12:15,322,508...15,598,331
Ensembl chr12:15,322,257...15,602,175 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO OMIM:613390 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RNLS renalase, FAD dependent amine oxidase IAGP ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar PMID:28492532 NCBI chr10:88,171,523...88,583,318
Ensembl chr10:88,273,864...88,584,530 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO OMIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO OMIM:611560 OMIM:619113 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO OMIM:268315 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO OMIM:615993 ORPHA:3156 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 IAGP HPO OMIM:617575 NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		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 SLC37A4 solute carrier family 37 member 4 IAGP HPO ORPHA:79259 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SLC41A1 solute carrier family 41 member 1 IAGP HPO OMIM:619468 NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748 		JBrowse link
G SLC7A7 solute carrier family 7 member 7 IAGP HPO OMIM:222700 NCBI chr14:22,773,222...22,819,791
Ensembl chr14:22,773,222...22,829,820 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP HPO OMIM:242900 ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 IAGP HPO OMIM:616818 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP HPO OMIM:301028 ORPHA:656 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO OMIM:618250 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2752 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:216360 OMIM:610688 OMIM:613550 ORPHA:84081 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		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
G TPRKB TP53RK binding protein IAGP HPO OMIM:617731 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP HPO OMIM:616629 ORPHA:3156 NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897 		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 HPO OMIM:613819 OMIM:613820 NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO OMIM:614376 OMIM:614377 OMIM:614378 OMIM:616307 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 HPO OMIM:136680 OMIM:194080 ORPHA:656 NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
G XPNPEP3 X-prolyl aminopeptidase 3 IAGP HPO OMIM:613159 NCBI chr22:40,857,148...40,932,815
Ensembl chr22:40,857,077...40,932,815 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO OMIM:619609 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO OMIM:608612 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Sterile pyuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Steroid-dependent nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEXMIF neurite extension and migration factor IAGP HPO OMIM:300912 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
Steroid-resistant nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOL1 apolipoprotein L1 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:20635188 PMID:20647424 PMID:20668430 PMID:21997394 PMID:24033266 More... NCBI chr22:36,253,133...36,267,525
Ensembl chr22:36,253,071...36,267,530 		JBrowse link
G AVIL advillin IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar
HPO		 PMID:25741868 PMID:29058690 OMIM:618594 NCBI chr12:57,797,380...57,818,734
Ensembl chr12:57,797,376...57,818,734 		JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:14675423 More... NCBI chr 1:179,365,705...179,554,735
Ensembl chr 1:179,365,720...179,554,735 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 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: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:32581362 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COQ6 coenzyme Q6, monooxygenase IAGP HPO OMIM:614650 NCBI chr14:73,949,926...73,963,670
Ensembl chr14:73,949,926...73,963,670 		JBrowse link
G COQ8B coenzyme Q8B IAGP HPO OMIM:615573 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar
HPO		 PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More... OMIM:616220 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		JBrowse link
G DAAM2 dishevelled associated activator of morphogenesis 2 IAGP HPO OMIM:619263 NCBI chr 6:39,792,376...39,904,869
Ensembl chr 6:39,792,298...39,904,877 		JBrowse link
G EMP2 epithelial membrane protein 2 IAGP HPO OMIM:615861 NCBI chr16:10,528,422...10,580,598
Ensembl chr16:10,528,422...10,580,632 		JBrowse link
G KIRREL1 kirre like nephrin family adhesion molecule 1 IAGP HPO OMIM:619201 NCBI chr 1:157,993,645...158,100,262
Ensembl chr 1:157,993,273...158,100,262 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP HPO OMIM:620049 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 IAGP HPO OMIM:617609 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: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:20172850 PMID:32581362 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: Steroid-resistant nephrotic syndrome ClinVar PMID:1523708 PMID:8589695 PMID:8606597 PMID:10742096 PMID:11729243 More... NCBI chr 1:179,550,539...179,575,948
Ensembl chr 1:179,550,539...179,575,952 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO OMIM:618177 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 OMIM:618178 NCBI chr11:47,778,118...47,848,544
Ensembl chr11:47,778,087...47,848,555 		JBrowse link
G NUP205 nucleoporin 205 IAGP HPO OMIM:616893 NCBI chr 7:135,557,917...135,648,753
Ensembl chr 7:135,557,917...135,648,757 		JBrowse link
G NUP85 nucleoporin 85 IAGP HPO OMIM:618176 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758 		JBrowse link
G NUP93 nucleoporin 93 IAGP HPO OMIM:616892 NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		JBrowse link
G PAX2 paired box 2 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G SGPL1 sphingosine-1-phosphate lyase 1 IAGP HPO OMIM:617575 NCBI chr10:70,815,948...70,881,184
Ensembl chr10:70,815,905...70,895,816 		JBrowse link
G SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053 		JBrowse link
G TBC1D8B TBC1 domain family member 8B IAGP HPO OMIM:301028 NCBI chr  X:106,802,673...106,876,150
Ensembl chr  X:106,802,673...106,876,150 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO OMIM:617731 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:25741868 PMID:29058690 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
G WT1 WT1 transcription factor IAGP ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 More... NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564 		JBrowse link
Sulfocysteinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUOX sulfite oxidase IAGP ClinVar Annotator: match by term: Sulfocysteinuria ClinVar
HPO		 PMID:1212661 PMID:9428520 PMID:9600976 PMID:12112661 PMID:15952210 More... OMIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
Transient aminoaciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOB aldolase, fructose-bisphosphate B IAGP HPO OMIM:229600 NCBI chr 9:101,420,560...101,435,774
Ensembl chr 9:101,420,560...101,449,664 		JBrowse link
Transient nephrotic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
Trimethylaminuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FMO3 flavin containing dimethylaniline monoxygenase 3 IAGP ClinVar Annotator: match by term: Trimethylaminuria ClinVar
HPO		 PMID:987532 PMID:8401051 PMID:9282831 PMID:9398858 PMID:9536088 More... OMIM:602079 ORPHA:468726 NCBI chr 1:171,090,905...171,117,819
Ensembl chr 1:171,090,901...171,117,819 		JBrowse link
G FMO4 flavin containing dimethylaniline monoxygenase 4 IAGP ClinVar Annotator: match by term: Trimethylaminuria ClinVar PMID:25741868 NCBI chr 1:171,314,183...171,342,084
Ensembl chr 1:171,314,183...171,342,084 		JBrowse link
G LOC126805916 BRD4-independent group 4 enhancer GRCh37_chr1:171076844-171078043 IAGP ClinVar Annotator: match by term: Trimethylaminuria ClinVar PMID:8401051 PMID:9282831 PMID:9398858 PMID:9536088 PMID:10376762 More... NCBI chr 1:171,107,703...171,108,902 JBrowse link
Tryptophanuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TDO2 tryptophan 2,3-dioxygenase IAGP HPO OMIM:600627 NCBI chr 4:155,903,696...155,920,406
Ensembl chr 4:155,854,738...155,920,406 		JBrowse link
Uraciluria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPYD dihydropyrimidine dehydrogenase IAGP HPO OMIM:274270 ORPHA:1675 NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000 		JBrowse link
G DPYS dihydropyrimidinase IAGP HPO OMIM:222748 NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055 		JBrowse link
Urinary excretion of sialylated oligosaccharides term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEU1 neuraminidase 1 IAGP HPO OMIM:256550 ORPHA:812 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905 		JBrowse link
Urinary glycosaminoglycan excretion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GUSB glucuronidase beta IAGP HPO OMIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO OMIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO OMIM:607014 NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
Urinary mulberry cells term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha IAGP HPO OMIM:301500 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012 		JBrowse link
Urocanic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806801 BRD4-independent group 4 enhancer GRCh37_chr3:126207907-126209106 IAGP ClinVar Annotator: match by term: Urocanic aciduria ClinVar PMID:25741868 NCBI chr 3:126,489,064...126,490,263 JBrowse link
G UROC1 urocanate hydratase 1 IAGP ClinVar Annotator: match by term: High urine urocanic acid levels
ClinVar Annotator: match by term: Urocanic aciduria		 ClinVar
HPO		 PMID:18414213 PMID:19304569 PMID:25741868 PMID:28492532 OMIM:276880 ORPHA:210128 NCBI chr 3:126,481,166...126,517,773
Ensembl chr 3:126,481,166...126,517,773 		JBrowse link
Xanthinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MOCOS molybdenum cofactor sulfurase IAGP HPO OMIM:603592 NCBI chr18:36,187,497...36,272,157
Ensembl chr18:36,187,497...36,272,157 		JBrowse link
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO OMIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO OMIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063 		JBrowse link
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Xanthinuria ClinVar
HPO		 PMID:28492532 OMIM:278300 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the genitourinary system 4426
        Abnormality of the urinary system 2351
          Abnormality of the urinary system physiology 1280
            Abnormal renal physiology + 804
            Abnormality of urine homeostasis + 854
            Recurrent urinary tract infections + 163
paths to the root