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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:end stage renal disease
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Accession:DOID:783 term browser browse the term
Definition:A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. (DO)
Synonyms:exact_synonym: ESRD;   STAGE 5 CHRONIC KIDNEY DISEASE;   chronic kidney failure;   end stage kidney disease;   end stage renal failure
 primary_id: MESH:D007676
 xref: EFO:0009909;   ICD9CM:585.6
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
end stage renal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA1 ATP binding cassette subfamily A member 1 ameliorates EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19878707 PMID:19878707 RGD:2326081 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G ABCB1 ATP binding cassette subfamily B member 1 ISO RGD PMID:17135344 RGD:2301067 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G ABCC2 ATP binding cassette subfamily C member 2 ISO RGD PMID:17135344 RGD:2301067 NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594 		JBrowse link
G ABCC3 ATP binding cassette subfamily C member 3 ISO protein:decreased expression:intestine RGD PMID:17135344 RGD:2301067 NCBI chr17:50,634,881...50,692,253
Ensembl chr17:50,634,777...50,692,253 		JBrowse link
G ABCG1 ATP binding cassette subfamily G member 1 EXP
ISO		 CTD Direct Evidence: marker/mechanism
protein:increased expression:kidney (rat)		 CTD
RGD		 PMID:19878707 PMID:19878707 RGD:2326081 NCBI chr21:42,199,689...42,297,244
Ensembl chr21:42,199,689...42,304,389 		JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO
EXP		 protein:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19878707 PMID:19878707 RGD:2326081 NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,148,957 		JBrowse link
G ACE angiotensin I converting enzyme treatment
susceptibility		 IEA
EXP
ISO
IAGP		 CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Vesico-Ureteral Reflux;DNA:deletion		 CTD
RGD		 PMID:7593601 PMID:10099885 PMID:15118671 PMID:14586729 PMID:16385653 More... RGD:1331525, RGD:12879398, RGD:8142355, RGD:6903283 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380 		JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO
EXP		 protein:increased expression:serum, urine
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19539174 PMID:24028144 RGD:8695941 NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463 		JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19539174 PMID:24028144 RGD:8695941 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572 		JBrowse link
G ADIPOR2 adiponectin receptor 2 ISO RGD PMID:24028144 RGD:8695941 NCBI chr12:1,691,070...1,788,674
Ensembl chr12:1,688,574...1,788,674 		JBrowse link
G ADRB2 adrenoceptor beta 2 IDA RGD PMID:9730702 RGD:7175286 NCBI chr 5:148,826,611...148,828,623
Ensembl chr 5:148,826,611...148,828,623 		JBrowse link
G AGER advanced glycosylation end-product specific receptor IEP protein:increased expression:serum (human) RGD PMID:21822023 RGD:7243867 NCBI chr 6:32,180,969...32,184,253
Ensembl chr 6:32,180,968...32,184,322 		JBrowse link
G AGT angiotensinogen IEA GAD PMID:15118671 RGD:1331525 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G AGTR2 angiotensin II receptor type 2 IAGP
ISO		 associated with Vesico-Ureteral Reflux;DNA:SNP: :-1332A>G (human) RGD PMID:20149750 PMID:19212419 RGD:6903283, RGD:6903843 NCBI chr  X:116,170,744...116,174,974
Ensembl chr  X:116,170,744...116,174,974 		JBrowse link
G ALB albumin disease_progression IEP
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11938814 PMID:11849406 RGD:11036089 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G APOA1 apolipoprotein A1 treatment IEP
ISO		 protein:decreased expression:blood
protein:increased expression, increased glycation:plasma
associated with Hyperlipidemias		 RGD PMID:22515595 PMID:18079481 PMID:20488818 RGD:7241208, RGD:7241576, RGD:7241571 NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622 		JBrowse link
G APOC2 apolipoprotein C2 IEP associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:8139482 RGD:2313968 NCBI chr19:44,946,051...44,949,565
Ensembl chr19:44,946,035...44,949,565 		JBrowse link
G APOC3 apolipoprotein C3 IEP associated with Diabetes Mellitus, Insulin-Dependent
protein:increased expression: :		 RGD PMID:8139482 PMID:10822722 RGD:2313968, RGD:7207212 NCBI chr11:116,829,907...116,833,072
Ensembl chr11:116,829,706...116,833,072 		JBrowse link
G APOE apolipoprotein E ISO
IEP		 protein:increased expression:serum (human) RGD PMID:21705678 PMID:21332332 RGD:6903287, RGD:6904217 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G ARG2 arginase 2 ISO protein:decreased activity:kidney (rat) RGD PMID:16809898 RGD:4110828 NCBI chr14:67,619,920...67,651,708
Ensembl chr14:67,619,920...67,651,708 		JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:20424483 RGD:11522730 NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128 		JBrowse link
G BDKRB1 bradykinin receptor B1 resistance
no_association		 IAGP
IEP		 DNA: SNP: G-699-->C
DNA: SNP: G(-699)C		 RGD PMID:9555662 PMID:10604543 PMID:10809796 RGD:7241560, RGD:7241582, RGD:7241561 NCBI chr14:96,256,210...96,264,763
Ensembl chr14:96,256,210...96,268,967 		JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:kidney RGD PMID:24090408 RGD:11561926 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350 		JBrowse link
G BGLAP bone gamma-carboxyglutamate protein IEP
ISO		 protein:increased expression:serum RGD PMID:20845051 PMID:17365904 RGD:7207235, RGD:7207409 NCBI chr 1:156,242,184...156,243,317
Ensembl chr 1:156,242,184...156,243,317 		JBrowse link
G BNIP3 BCL2 interacting protein 3 ISO protein:increased expression:kidney RGD PMID:24090408 RGD:11561926 NCBI chr10:131,967,684...131,981,923
Ensembl chr10:131,967,684...131,981,967 		JBrowse link
G C6 complement C6 severity ISO RGD PMID:11912252 RGD:1600675 NCBI chr 5:41,142,116...41,261,469
Ensembl chr 5:41,142,116...41,261,438 		JBrowse link
G CASR calcium sensing receptor IEP protein:decreased expression:epigastric artery (human) RGD PMID:17537980 RGD:7205455 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CAT catalase ISO
EXP		 protein: decreased expression :kidney
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16518626 PMID:19420110 PMID:20007347 RGD:6892947 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CBR1 carbonyl reductase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26282591 NCBI chr21:36,070,024...36,073,164
Ensembl chr21:36,069,941...36,073,166 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 susceptibility
treatment		 IAGP
EXP
ISO		 associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-2518A>G (human)
CTD Direct Evidence: marker/mechanism
protein:increased expression:renal proximal tubule (rat)		 CTD
RGD		 PMID:19420110 PMID:19539174 PMID:17982227 PMID:18797164 PMID:12080327 RGD:2306990, RGD:2307007, RGD:8549739 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208 		JBrowse link
G CCL3 C-C motif chemokine ligand 3 IEP RGD PMID:22613545 RGD:7175169 NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169 		JBrowse link
G CCL5 C-C motif chemokine ligand 5 ISO mRNA:increased expression:kidney cortex (rat) RGD PMID:19535570 RGD:4889989 NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 ISO associated with Candidiasis, Invasive; RGD PMID:22916017 RGD:7241817 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CCR5 C-C motif chemokine receptor 5 ISO mRNA:increased expression:kidney cortex (rat) RGD PMID:19535570 RGD:4889989 NCBI chr 3:46,370,142...46,376,206
Ensembl chr 3:46,370,946...46,376,206 		JBrowse link
G CD2AP CD2 associated protein ISS MouseDO NCBI chr 6:47,477,789...47,627,263
Ensembl chr 6:47,477,789...47,627,263 		JBrowse link
G CD40 CD40 molecule treatment
severity		 IDA
IEP		 protein:increased expression:plasma RGD PMID:12941150 PMID:20846521 RGD:7248709, RGD:7248723 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863 		JBrowse link
G CD40LG CD40 ligand IEP protein:increased expression:plasma RGD PMID:19019166 RGD:7248427 NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G CD68 CD68 molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:19539174 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111 		JBrowse link
G CFB complement factor B severity ISO
IEP		 RGD PMID:17522263 PMID:1837062 RGD:7242704, RGD:7242753 NCBI chr 6:31,946,095...31,952,084
Ensembl chr 6:31,945,650...31,952,086 		JBrowse link
G CHGA chromogranin A IEP
IAGP		 protein:increased expression:serum
associated with Hypertension;DNA:polymorphisms, haplotypes:promoter, 3' utr:multiple 		RGD PMID:20730520 PMID:18235090 RGD:6906898, RGD:6906903 NCBI chr14:92,922,664...92,935,285
Ensembl chr14:92,923,150...92,935,285 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IEP RGD PMID:25782334 RGD:11041185 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP DNA:polymorphism: :p.I1205V (human) RGD PMID:19424605 RGD:7257553 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP RGD PMID:19357112 RGD:7242047 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
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:19357112 RGD:7242047 NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A EXP
ISO		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:kidney (rat)		 CTD
RGD		 PMID:19878707 PMID:19878707 RGD:2326081 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CRP C-reactive protein disease_progression IEP
EXP		 protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19539174 PMID:22865783 RGD:6906886 NCBI chr 1:159,712,289...159,714,589
Ensembl chr 1:159,712,289...159,714,589 		JBrowse link
G CSF1 colony stimulating factor 1 IEP protein:increased expression:plasma RGD PMID:11340249 RGD:7257586 NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP associated with Wegener Granulomatosis;DNA:polymorphisms:promoter,exon::-318C>T, (AT)repeats (human) RGD PMID:15708894 RGD:7204725 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G CXCR1 C-X-C motif chemokine receptor 1 IEP RGD PMID:20649681 RGD:7207863 NCBI chr 2:218,162,841...218,166,962
Ensembl chr 2:218,162,841...218,166,962 		JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 IAGP DNA:polymorphism: :1208C>T (human) RGD PMID:23615182 RGD:7257672 NCBI chr 2:218,125,294...218,137,251
Ensembl chr 2:218,125,289...218,137,251 		JBrowse link
G CYBA cytochrome b-245 alpha chain ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19420110 PMID:19420110 RGD:2306994 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083 		JBrowse link
G CYBB cytochrome b-245 beta chain ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19420110 PMID:15550752 RGD:1599682 NCBI chr  X:37,780,059...37,813,461
Ensembl chr  X:37,780,018...37,813,461 		JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 IAGP
ISO		 DNA:polymorphisms:exon, 3' utr:3801T>C (rs4646903), p.I462V (rs1048943) (human)
mRNA, protein:decreased expression:intestine		 RGD PMID:23619522 PMID:12039987 RGD:7257728, RGD:7296923 NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15248218 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398 		JBrowse link
G CYP2C18 cytochrome P450 family 2 subfamily C member 18 ISO RGD PMID:8531418 PMID:11158222 RGD:6903939 RGD:6903940 NCBI chr10:94,683,729...94,736,190
Ensembl chr10:94,683,729...94,736,190 		JBrowse link
G CYP2C19 cytochrome P450 family 2 subfamily C member 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15248218 NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547 		JBrowse link
G CYP2C8 cytochrome P450 family 2 subfamily C member 8 IAGP DNA:polymorphisms: : RGD PMID:18769365 RGD:7243146 NCBI chr10:95,036,772...95,069,497
Ensembl chr10:95,036,772...95,069,497 		JBrowse link
G CYP2C9 cytochrome P450 family 2 subfamily C member 9 ISO RGD PMID:11158222 PMID:8531418 RGD:6903939, RGD:6903940 NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091 		JBrowse link
G CYP3A4 cytochrome P450 family 3 subfamily A member 4 ISO mRNA, protein:decreased expression:intestine RGD PMID:12039987 RGD:7296923 NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,960...99,784,248 		JBrowse link
G DDC dopa decarboxylase ISO protein:altered activity:renal cortex (rat) RGD PMID:19167406 RGD:5128880 NCBI chr 7:50,458,442...50,565,405
Ensembl chr 7:50,458,436...50,565,405 		JBrowse link
G DRD1 dopamine receptor D1 treatment ISO RGD PMID:18402547 RGD:7248448 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182 		JBrowse link
G DRD2 dopamine receptor D2 IAGP associated with Diabetes Mellitus, Non-Insulin Dependent; DNA:polymorphisms:5'utr, intron: -141delC, G>A (human) RGD PMID:18366720 RGD:2311602 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691 		JBrowse link
G EDN1 endothelin 1 ISO mRNA:increased expression:kidney (rat) RGD PMID:8441230 RGD:4144849 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP Associated with Type 2 diabetes RGD PMID:18184924 RGD:6906927 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G EPHX2 epoxide hydrolase 2 disease_progression ISO RGD PMID:20694143 RGD:5688726 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564 		JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: therapeutic CTD PMID:16707910 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G EPOR erythropoietin receptor ISO protein:decreased expression:heart RGD PMID:27468524 RGD:11532749 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342 		JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:22473220 RGD:7387323 NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506 		JBrowse link
G F5 coagulation factor V IAGP DNA:mutation: :1691G>A(human) RGD PMID:19520684 RGD:6893522 NCBI chr 1:169,511,951...169,586,481
Ensembl chr 1:169,511,951...169,586,588 		JBrowse link
G FABP1 fatty acid binding protein 1 ameliorates EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19878707 PMID:19878707 RGD:2326081 NCBI chr 2:88,122,982...88,128,062
Ensembl chr 2:88,122,982...88,128,062 		JBrowse link
G FABP2 fatty acid binding protein 2 IAGP DNA:polymorphism:CDS:amino acid A54T, associated with Diabetes Mellitus, Type 2 (MeSH:D003924) RGD PMID:16249461 RGD:1578457 NCBI chr 4:119,317,250...119,322,138
Ensembl chr 4:119,317,250...119,322,138 		JBrowse link
G FASN fatty acid synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294 		JBrowse link
G FCGR2B Fc gamma receptor IIb IEP RGD PMID:15266033 RGD:7240530 NCBI chr 1:161,647,243...161,678,654
Ensembl chr 1:161,663,143...161,678,654 		JBrowse link
G FGB fibrinogen beta chain treatment IAGP associated with hypertension;DNA:polymorphism: :-455G>A (human) RGD PMID:19352213 RGD:7175505 NCBI chr 4:154,562,980...154,572,807
Ensembl chr 4:154,563,011...154,572,807 		JBrowse link
G FN1 fibronectin 1 IEP protein:decreased expression:plasma RGD PMID:6665521 RGD:7205701 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G GATA3 GATA binding protein 3 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stage 5 chronic kidney disease		 CTD
ClinVar		 PMID:25741868 PMID:26970513 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GCKR glucokinase regulator IMP DNA: snp: rs1260326 RGD PMID:21980298 RGD:7242279 NCBI chr 2:27,496,839...27,523,684
Ensembl chr 2:27,496,839...27,523,684 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide IEP RGD PMID:18809976 RGD:7242553 NCBI chr 3:10,285,666...10,292,947
Ensembl chr 3:10,285,666...10,292,947 		JBrowse link
G GLO1 glyoxalase I severity IAGP DNA:SNP: :419C>A (human) RGD PMID:20185929 RGD:7242570 NCBI chr 6:38,675,925...38,703,145
Ensembl chr 6:38,675,925...38,703,145 		JBrowse link
G GSR glutathione-disulfide reductase IEP protein:increased activity:blood:
protein:increased activity:lymphocyte:		 RGD PMID:20181004 PMID:6463365 RGD:7257547, RGD:7257560 NCBI chr 8:30,678,066...30,727,846
Ensembl chr 8:30,678,066...30,727,846 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:24339523 RGD:14700960 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 susceptibility IAGP associated with Diabetes Mellitus;DNA:deletion RGD PMID:15492856 RGD:2306631
G GTPBP4 GTP binding protein 4 ISO RGD PMID:11316846 RGD:632611 NCBI chr10:988,434...1,019,932
Ensembl chr10:988,434...1,019,932 		JBrowse link
G GUCA2B guanylate cyclase activator 2B EXP CTD Direct Evidence: marker/mechanism CTD PMID:15780094 NCBI chr 1:42,153,410...42,155,820
Ensembl chr 1:42,153,410...42,155,820 		JBrowse link
G HAMP hepcidin antimicrobial peptide ISO
EXP
IEP		 mRNA:increased expression:liver
CTD Direct Evidence: marker/mechanism
protein:increased expression:plasma		 CTD
RGD		 PMID:16929540 PMID:20631677 PMID:19212416 RGD:11041611, RGD:11041622 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HBEGF heparin binding EGF like growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21937979 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO
EXP		 associated with Hypertension
protein:decreased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19878707 PMID:21119529 PMID:19878707 RGD:5508686, RGD:2326081 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001 		JBrowse link
G HMOX1 heme oxygenase 1 EXP CTD Direct Evidence: therapeutic CTD PMID:22622455 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:kidney (rat) RGD PMID:20820841 RGD:4145364 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G IGF1 insulin like growth factor 1 EXP CTD Direct Evidence: therapeutic CTD PMID:10198369 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G IL1A interleukin 1 alpha no_association IAGP DNA:SNP
DNA:SNPs, deletion, haplotypes:3' utr:multiple (human)
DNA:SNP, insertion/deletion:intron, 3' utr:rs1516792-3, rs16347-2 (human) 		RGD PMID:20551628 PMID:12631337 PMID:12837270 RGD:6907070, RGD:6907106, RGD:6907105 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493 		JBrowse link
G IL1B interleukin 1 beta no_association IAGP
ISO		 DNA:SNP
protein:increased expression:plasma (rat)		 RGD PMID:20551628 PMID:20199183 PMID:22031851 RGD:6907070, RGD:7175346, RGD:7175302 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 disease_progression
susceptibility		 IAGP
IEP		 DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
DNA:repeats:intron:IVS2+914_1000dup IL1RN*1 (human)
protein:increased expression:serum (human)
DNA:polymorphism:exon:g.14709C>T rs315952 (human)
DNA:polymorphism:intron:IVS6+327A>G rs452204 (human)		 RGD PMID:17224277 PMID:16766392 PMID:16556139 PMID:12837270 PMID:20551628 RGD:6907131, RGD:6907370, RGD:6907368, RGD:6907105, RGD:6907070 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G IL20 interleukin 20 IEP protein:increased expression:serum RGD PMID:18639518 RGD:5147394 NCBI chr 1:206,863,565...206,869,223
Ensembl chr 1:206,865,623...206,869,223 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19539174 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INSIG2 insulin induced gene 2 ISO protein:decreased expression:kidney (rat) RGD PMID:19878707 RGD:2326081 NCBI chr 2:118,088,471...118,110,997
Ensembl chr 2:118,088,452...118,110,997 		JBrowse link
G IRS1 insulin receptor substrate 1 ISO protein:decreased tyrosine phosphorylation:aorta RGD PMID:22942179 RGD:7207055 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820 		JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP associated with Polycystic Kidney, Autosomal Dominant;DNA:polymorphism: :-414T>C(human) RGD PMID:18277079 RGD:7257723 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G ITGB3 integrin subunit beta 3 IAGP associated with Hypertension;DNA:polymorphism RGD PMID:19368146 RGD:6907396 NCBI chr17:47,253,827...47,313,743
Ensembl chr17:47,253,827...47,313,743 		JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO protein:increased expression:renal cortex, cytosol (rat) RGD PMID:20007347 RGD:6892947 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558 		JBrowse link
G KL klotho IEP
ISO		 mRNA,protein:decreased expression:kidney:
mRNA:decreased expression:kidney:		 RGD PMID:11162628 PMID:9731228 RGD:10403042, RGD:10403067 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G KLK1 kallikrein 1 IAGP RGD PMID:11849458 RGD:1581753 NCBI chr19:50,819,146...50,823,787
Ensembl chr19:50,819,146...50,823,787 		JBrowse link
G LCAT lecithin-cholesterol acyltransferase ISO RGD PMID:15280162 RGD:1581769 NCBI chr16:67,939,750...67,944,120
Ensembl chr16:67,939,750...67,944,131 		JBrowse link
G LCN2 lipocalin 2 onset IEP protein:increased expression:urine: RGD PMID:22542304 RGD:7245503 NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LEP leptin IEP protein:increased expression:serum (human) RGD PMID:9294834 RGD:10053636 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LIPC lipase C, hepatic type ISO protein, mRNA:decreased expression:hepatocytes, liver (rat) RGD PMID:8636395 RGD:2308788 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G LIPJ lipase family member J IAGP ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr10:88,582,907...88,623,184
Ensembl chr10:88,586,753...88,606,976 		JBrowse link
G LOC130004283 ATAC-STARR-seq lymphoblastoid active region 3723 IAGP ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr10:88,582,869...88,583,118 JBrowse link
G LPIN1 lipin 1 ISO mRNA:increased expression:skeletal muscle RGD PMID:14718385 RGD:1641826 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G LPL lipoprotein lipase ISO RGD PMID:22009636 RGD:6909179 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO mRNA:decreased expression:kidney RGD PMID:15266031 RGD:1641836 NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534 		JBrowse link
G MBL2 mannose binding lectin 2 IAGP associated with Lupus Erythematosus, Systemic;DNA:polymorphisms RGD PMID:16801331 RGD:6903261 NCBI chr10:52,765,380...52,772,784
Ensembl chr10:52,765,380...52,772,784 		JBrowse link
G MLXIPL MLX interacting protein like ameliorates EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19878707 PMID:19878707 RGD:2326081 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMP1 matrix metallopeptidase 1 severity
no_association		 IAGP DNA:insertion, haplotype:promoter:g.-1607insG (human)
DNA:insertion:promoter:g.-1607insG (human)		 RGD PMID:19221176 PMID:22401717 RGD:7207064, RGD:7206856 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160 		JBrowse link
G MMP10 matrix metallopeptidase 10 IEP associated with Hypertension; protein:increased expression:plasma (human) RGD PMID:19886850 RGD:7207051 NCBI chr11:102,770,502...102,780,628
Ensembl chr11:102,770,502...102,780,628 		JBrowse link
G MMP2 matrix metallopeptidase 2 IEP associated with Hypertension; protein:increased expression:plasma (human) RGD PMID:19886850 RGD:7207051 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MMP3 matrix metallopeptidase 3 severity IAGP DNA:insertion, haplotype:promoter:g.-1613insA (human) RGD PMID:19221176 RGD:7207064 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609 		JBrowse link
G MPO myeloperoxidase disease_progression IDA RGD PMID:20638167 RGD:6909184 NCBI chr17:58,269,855...58,280,935
Ensembl chr17:58,269,855...58,280,935 		JBrowse link
G MSC musculin susceptibility IAGP associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs9298190(human) RGD PMID:19929986 RGD:596936222 NCBI chr 8:71,841,560...71,844,412
Ensembl chr 8:71,841,560...71,844,412 		JBrowse link
G MSR1 macrophage scavenger receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr 8:16,107,881...16,192,651
Ensembl chr 8:16,107,878...16,567,490 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility
severity
no_association		 IAGP DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)
DNA:SNP: :677C>T(human)
DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human)
associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)		 RGD PMID:19520684 PMID:25664255 PMID:17899317 PMID:14737040 PMID:19520069 RGD:6893522, RGD:14696732, RGD:6893579, RGD:6893524, RGD:6893523 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTOR mechanistic target of rapamycin kinase treatment ISO RGD PMID:22427849 RGD:10040968 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP
EXP		 associated with hypertension, glomerulosclerosis, focal segmental;DNA:SNPs: :rs4821480, rs2032487, rs4821481(human)
CTD Direct Evidence: marker/mechanism
associated with diabetes mellitus, type 2;DNA:SNPs: :
DNA:SNPs:multiple:
associated with hypertension;DNA:polymorphisms:multiple:
associated with diabetes mellitus,type 2;DNA:SNPs: :		 CTD
RGD		 PMID:18794854 PMID:18794856 PMID:18794854 PMID:21968013 PMID:20144966 More... RGD:6903237, RGD:6903256, RGD:6903243, RGD:6903239, RGD:6903238 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G NAT2 N-acetyltransferase 2 ISO mRNA,protein:decreased expression:liver: RGD PMID:20007296 RGD:11533637 NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302 		JBrowse link
G NGF nerve growth factor treatment IDA
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:24244623 PMID:19169037 RGD:7242783 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770 		JBrowse link
G NOS1 nitric oxide synthase 1 treatment ISO protein:decreased expression:kidney cortex RGD PMID:17200156 PMID:23185775 RGD:1642147, RGD:7257669 NCBI chr12:117,208,142...117,361,626
Ensembl chr12:117,208,142...117,452,170 		JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO
IAGP		 protein:decreased expression:glomerulus
DNA:duplication, snp:intron, cds:g.IVS4?-?+27, p.E298D (human)		 RGD PMID:18089446 PMID:12701818 RGD:2292109, RGD:7777097 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
G NOX4 NADPH oxidase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr11:89,324,353...89,589,557
Ensembl chr11:89,324,353...89,498,187 		JBrowse link
G NPHS1 NPHS1 adhesion molecule, nephrin disease_progression ISO mRNA;increased expression:urine (rat) RGD PMID:19389856 RGD:38599006 NCBI chr19:35,862,915...35,869,357
Ensembl chr19:35,825,964...35,869,287 		JBrowse link
G NPPB natriuretic peptide B IEP protein:increased expression:plasma: RGD PMID:7606877 RGD:7246912 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945 		JBrowse link
G NPPC natriuretic peptide C IEP protein:increased expression:plasma
protein:increased expression:plasma (human)		 RGD PMID:8117275 PMID:8743538 RGD:1642297, RGD:1580770 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO RGD PMID:18591458 RGD:7174716 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G OLR1 oxidized low density lipoprotein receptor 1 ISO mRNA, protein:increased expression:kidney (rat) RGD PMID:12661921 RGD:1580992 NCBI chr12:10,158,301...10,176,266
Ensembl chr12:10,158,301...10,172,138 		JBrowse link
G PAX2 paired box 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16631587 NCBI chr10:100,735,396...100,829,944
Ensembl chr10:100,735,396...100,829,944 		JBrowse link
G PGF placental growth factor ISO RGD PMID:16543713 RGD:1642390 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Stage 5 chronic kidney disease ClinVar PMID:25741868 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PLA2G7 phospholipase A2 group VII IEP plasma:increased expression:plasma RGD PMID:16421163 RGD:7248787 NCBI chr 6:46,704,201...46,735,721
Ensembl chr 6:46,704,201...46,735,693 		JBrowse link
G PLAU plasminogen activator, urokinase treatment
severity		 IEP
ISO
IDA		 protein:increased expression, increased activity:kidney (rat)
protein:increased expression:plasma (human)		 RGD PMID:19926968 PMID:15506291 PMID:17869326 PMID:22683425 RGD:6483806, RGD:7241279, RGD:7241218, RGD:7241081 NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496 		JBrowse link
G PLAUR plasminogen activator, urokinase receptor IEP RGD PMID:19926968 RGD:6483806 NCBI chr19:43,646,095...43,670,169
Ensembl chr19:43,646,095...43,670,547 		JBrowse link
G POSTN periostin ISO mRNA,protein:increased expression,increased secretion:kidney,urine: RGD PMID:22167593 RGD:10040972 NCBI chr13:37,562,585...37,598,768
Ensembl chr13:37,562,583...37,598,844 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma disease_progression IAGP associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human) RGD PMID:18467141 RGD:2301857 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PTGER4 prostaglandin E receptor 4 treatment ISO RGD PMID:16871242 RGD:10003092 NCBI chr 5:40,679,915...40,746,800
Ensembl chr 5:40,679,915...40,693,735 		JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19420110 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922 		JBrowse link
G PTH parathyroid hormone severity ISO
IEP		 protein:increased expression:serum (rat)
protein:increased expression:serum (human)		 RGD PMID:23548814 PMID:23243213 RGD:7242564, RGD:7242692 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO
EXP		 protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19420110 PMID:18077597 RGD:2298859 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RETN resistin severity IEP
EXP		 protein:increased expression:serum
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19539174 PMID:22421264 RGD:7207074 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455 		JBrowse link
G RNLS renalase, FAD dependent amine oxidase IEP
IAGP		 protein:decreased expression:plasma:
ClinVar Annotator: match by term: Stage 5 chronic kidney disease		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:15841207 RGD:7327153 NCBI chr10:88,171,523...88,583,318
Ensembl chr10:88,273,864...88,584,530 		JBrowse link
G SCAF1 SR-related CTD associated factor 1 ISO protein:increased expression:kidney (rat) RGD PMID:19878707 RGD:2326081 NCBI chr19:49,640,465...49,658,642
Ensembl chr19:49,642,209...49,658,642 		JBrowse link
G SCAP SREBF chaperone multiple interactions ISO RGD PMID:19878707 RGD:2326081 NCBI chr 3:47,413,681...47,477,127
Ensembl chr 3:47,413,681...47,477,126 		JBrowse link
G SCARB1 scavenger receptor class B member 1 ameliorates EXP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19878707 PMID:19878707 RGD:2326081 NCBI chr12:124,776,856...124,863,864
Ensembl chr12:124,776,856...124,882,668 		JBrowse link
G SELL selectin L no_association IAGP RGD PMID:22119815 RGD:7175303 NCBI chr 1:169,690,667...169,711,620
Ensembl chr 1:169,690,665...169,711,702 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19420110 PMID:26903149 RGD:11073683 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 ISO protein:decreased expression:kidney, plasma membrane RGD PMID:23280877 PMID:12110012 RGD:7243177, RGD:7243883 NCBI chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO mRNA:decreased expression:renal cortex (rat) RGD PMID:15452708 RGD:7242930 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G SLC9A5 solute carrier family 9 member A5 resistance IAGP DNA:polymorphism RGD PMID:10642288 RGD:1643221 NCBI chr16:67,248,979...67,272,191
Ensembl chr16:67,237,683...67,272,191 		JBrowse link
G SOAT2 sterol O-acyltransferase 2 ISO RGD PMID:12217884 RGD:625687 NCBI chr12:53,103,486...53,124,535
Ensembl chr12:53,103,486...53,124,535 		JBrowse link
G SREBF1 sterol regulatory element binding transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19878707 NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002 		JBrowse link
G SREBF2 sterol regulatory element binding transcription factor 2 ISO
EXP		 mRNA, protein:increased expression:liver
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19878707 PMID:16814791 RGD:2308825 NCBI chr22:41,833,105...41,907,305
Ensembl chr22:41,833,105...41,907,306 		JBrowse link
G TBX21 T-box transcription factor 21 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26970513 NCBI chr17:47,733,236...47,746,122
Ensembl chr17:47,733,236...47,746,122 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO
EXP		 mRNA, protein:increased expression:kidney
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19420110 PMID:10919844 RGD:7394838 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G THBD thrombomodulin ISO
IEP		 protein:increased expression:plasma RGD PMID:22129968 PMID:21873362 RGD:5684979, RGD:5684981 NCBI chr20:23,045,633...23,049,672
Ensembl chr20:23,045,633...23,049,672 		JBrowse link
G TLR2 toll like receptor 2 IEP RGD PMID:20729266 RGD:7240546 NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260 		JBrowse link
G TLR4 toll like receptor 4 IEP RGD PMID:20729266 RGD:7240546 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TNF tumor necrosis factor IEP
EXP		 associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19539174 PMID:22266663 RGD:7245510 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b severity IEP RGD PMID:21479768 RGD:7205485 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:22266663 RGD:7245510 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114 		JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B IEP associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma RGD PMID:22266663 RGD:7245510 NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228 		JBrowse link
G UCP2 uncoupling protein 2 susceptibility IAGP DNA:polymorphism: :-866G>A (human)
DNA:deletion		 RGD PMID:19406964 PMID:18242170 RGD:7175298, RGD:7175299 NCBI chr11:73,974,672...73,983,202
Ensembl chr11:73,974,061...73,982,843 		JBrowse link
G VWF von Willebrand factor disease_progression
treatment		 IDA
IEP		 protein:increased oxidation:plasma RGD PMID:22189209 PMID:21378155 PMID:22091998 RGD:7205641, RGD:7205649, RGD:7205646 NCBI chr12:5,948,877...6,124,670
Ensembl chr12:5,948,877...6,124,770 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 susceptibility IAGP associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs1749824(human) RGD PMID:19929986 RGD:596936222 NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519 		JBrowse link
Frasier syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107982234 WT1/WT1-AS bi-directional promoter region IAGP ClinVar Annotator: match by term: Frasier syndrome ClinVar PMID:8621495 PMID:12640141 PMID:15266301 PMID:16987884 PMID:18559874 More... NCBI chr11:32,430,169...32,437,423 JBrowse link
G WT1 WT1 transcription factor IAGP
EXP		 ClinVar Annotator: match by term: Frasier syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 112207
    disease of anatomical entity 104973
      Urogenital Diseases 13584
        urinary system disease 4421
          kidney disease 4095
            kidney failure 847
              chronic kidney disease 519
                end stage renal disease 185
                  Frasier syndrome 2
                  Nephropathy, Deafness, and Hyperparathyroidism 0
                  Progressive Nephropathy with Deafness 0
paths to the root