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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:Nephropathy
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Accession:HP:0000112 term browser browse the term
Definition:A nonspecific term referring to disease or damage of the kidneys.
Synonyms:broad_synonym: Kidney damage;   Kidney disease
 xref: EFO:0003086;   SNOMEDCT_US:90708001;   UMLS:C0022658;   UMLS:C1408258


show annotations for term's descendants           Sort by:
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 AL133297.2 novel transcript, antisense to IFT140 IAGP ClinVar Annotator: match by term: Kidney disease ClinVar PMID:32037395 NCBI chr16:1,580,527...1,610,328
Ensembl chr16:1,580,527...1,610,328 		JBrowse link
G APOA1 apolipoprotein A1 IAGP HPO MIM:105200 NCBI chr11:116,835,751...116,837,622
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 MIM: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 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 MIM: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 ClinVar Annotator: match by term: Kidney disease HPO
ClinVar		 PMID:32037395 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 chr14:104,681,133...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO MIM: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 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 MIM: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 MIM: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:14872505 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...132,895,230 		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 MIM: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 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 chr10:94,278,280...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 MIM: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 MIM: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 MIM: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 SNF2 related chromatin remodeling annealing helicase 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 PMID:14531790 PMID:23988501 PMID:25741868 PMID:26467025 PMID:28492532 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 MIM: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 MIM: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 MIM: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... MIM:194072 MIM: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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the genitourinary system 9751
        Abnormality of the urinary system 3438
          Abnormality of the urinary system physiology 1790
            Abnormal renal physiology 1220
              Nephropathy 167
Path 2
Term Annotations click to browse term
  Human phenotype 73835
    Phenotypic abnormality 73530
      Abnormality of the genitourinary system 9751
        Abnormality of the urinary system 3438
          Abnormality of the upper urinary tract 2622
            Abnormality of the kidney 2556
              Abnormal renal physiology 1220
                Nephropathy 167
paths to the root