nephritis - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	nephritis	go back to main search page
Accession:	DOID:10952	browse the term
Definition:	A kidney disease that is characterized by an inflammation of the kidneys. (DO)
Synonyms:	exact_synonym:	nephritides
	primary_id:	MESH:D009393
	xref:	EFO:1002050; ICD10CM:N05; NCI:C26833
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (496) Mouse (423) Human (6711) Chinchilla (369) Bonobo (403) Dog (407) Squirrel (381) Pig (398) Green Monkey (399) Naked Mole-rat (373) All
Genes (403)

nephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

susceptibility

associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :-240A>T,2350A>G (human)

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

angiotensin II receptor type 1

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

albumin

CTD Direct Evidence: marker/mechanism

PMID:161594 PMID:2945356 PMID:3656695 PMID:4065304 PMID:9380243 More...

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

bradykinin receptor B1

NCBI chr14:76,885,923...76,894,456

G

caspase 8

treatment

NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468

G

C-C motif chemokine ligand 2

associated with Purpura, Schoenlein-Henoch;protein:increased expression:urine (human)

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

cyclin D2

mRNA:increased expression:kidney cortex

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

G

C-C motif chemokine receptor 5

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,273,096...46,278,471
Ensembl chr 3:47,380,321...47,381,379

G

C-X-C motif chemokine receptor 2

NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148

G

cytochrome P450 family 1 subfamily A member 1

mRNA, protein:increased expression:kidney

NCBI chr15:53,664,968...53,672,277
Ensembl chr15:73,284,566...73,290,636

G

cytochrome P450 family 2 subfamily J member 2

NCBI chr 1:59,151,079...59,184,625
Ensembl chr 1:60,856,269...60,889,810

G

endothelin 1

treatment

mRNA, protein:increased expression:multiple (rat)

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fc gamma receptor IIIa

NCBI chr 1:137,027,943...137,036,738

G

forkhead box C2

DNA:insertion:1006insA

NCBI chr16:67,237,476...67,239,545

G

intercellular adhesion molecule 1

treatment

NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605

G

interferon gamma

associated with bacterial infection;protein:increased expression:serum

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 4

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

integrin subunit alpha 4

treatment

NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203

G

integrin subunit alpha L

treatment

NCBI chr16:24,445,966...24,496,037
Ensembl chr16:30,843,747...30,892,597

G

integrin subunit alpha M

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

integrin subunit beta 2

treatment

NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963

G

leptin receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,772,612...64,881,886
Ensembl chr 1:66,693,926...66,764,768

G

galectin 1

CTD Direct Evidence: therapeutic

NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356

G

galectin 3

CTD Direct Evidence: therapeutic

NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412

G

galectin-9

CTD Direct Evidence: therapeutic

NCBI chr17:29,125,460...29,145,028
Ensembl chr17:29,623,398...29,642,959

G

class I histocompatibility antigen, Gogo-B*0101 alpha chain

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067

G

mechanistic target of rapamycin kinase

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

nitric oxide synthase 3

susceptibility

associated with Purpura, Schoenlein-Henoch;DNA:polymorphisms,haplotype: :894G>T,-786T>C (human)

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

poly(ADP-ribose) polymerase 1

associated with Lupus Erythematosus, Systemic;DNA:SNPs:promoter, exon:-1963A>G, 28077G>A (human)

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

plasminogen activator, urokinase

CTD Direct Evidence: therapeutic

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

protein tyrosine kinase 2

treatment

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

G

protein tyrosine kinase 2 beta

treatment

NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474

G

serpin family B member 7

NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165

G

SMAD family member 6

mRNA:decreased expression:kidney

NCBI chr15:45,648,709...45,728,821
Ensembl chr15:63,923,379...64,001,154

G

SMAD family member 7

mRNA:decreased expression:kidney

NCBI chr18:42,306,324...42,337,214

G

small nuclear ribonucleoprotein D1 polypeptide

associated with Lupus Erythematosus, Systemic in humans

NCBI chr18:14,851,041...14,869,042
Ensembl chr18:18,488,929...18,506,284

acute pyelonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine ligand 8

susceptibility

DNA:SNP:promoter:g.-251T>A (rs4073) (human)

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine receptor 2

susceptibility

DNA:polymorphism:3' utr:1208C>T (human)

NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148

G

retinol binding protein 4

protein:decreased expression:blood plasma (human)

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

Acute Tubulointerstitial Nephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein A1

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

toll like receptor 2

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 4

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

Alport syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 14

ClinVar Annotator: match by term: Alport syndrome

NCBI chr21:22,830,770...22,946,594
Ensembl chr21:36,187,306...36,188,025

G

collagen type IV alpha 3 chain

susceptibility

DNA:deletion, nonsense mutations
ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria

PMID:1400291 PMID:2557550 PMID:7780062 PMID:7987301 PMID:7987396 More...

NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane

PMID:1721625 PMID:3385421 PMID:9536098 PMID:9792860 PMID:11134255 More...

NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Alport syndrome | ClinVar Annotator: match by term: Congenital hereditary hematuria | ClinVar Annotator: match by term: Disease of glomerular basement membrane

PMID:2349482 PMID:7599631 PMID:7695699 PMID:8218237 PMID:8455372 More...

NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095

G

interleukin 1 beta

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

unconventional myosin-XV

ClinVar Annotator: match by term: Alport syndrome

PMID:28492532 PMID:30311386

NCBI chr17:32,661,499...32,723,320

G

matrix metallopeptidase 12

NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762

G

matrix metallopeptidase 3

protein:increased expression:kidney

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

myosin heavy chain 9

CTD Direct Evidence: marker/mechanism

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

anti-basement membrane glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

protein:increased expression:kidney, urine
mRNA, protein:increased expression:liver, plasma

PMID:7550093 PMID:21282555

RGD:11039051 RGD:5129185

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

protein:increased expression:kidney

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

BCL2 associated X, apoptosis regulator

mRNA, protein:increased expression:kidney

NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468

G

BCL2 apoptosis regulator

mRNA, protein:decreased expression:kidney

NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100

G

C-C motif chemokine ligand 17

mRNA:increased expression:glomerulus

NCBI chr16:37,678,518...37,689,350
Ensembl chr16:56,819,949...56,822,131

G

C-C motif chemokine ligand 2

treatment

mRNA:increased expression:glomerulus

PMID:17898087 PMID:20071465 PMID:21894146

RGD:2307059 RGD:4145614 RGD:6218988

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 22

mRNA, protein:increased expression:glomerulus

NCBI chr16:37,631,861...37,640,208
Ensembl chr16:56,765,367...56,771,213

G

C-C motif chemokine ligand 5

mRNA:increased expression:glomerulus

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

CD274 molecule

treatment

NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402

G

CD40 molecule

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

CD80 molecule

NCBI chr 3:116,646,590...116,683,725
Ensembl chr 3:123,559,559...123,594,870

G

complement factor B

NCBI chr 6:31,606,716...31,612,782

G

clusterin

protein:increased expression:urine

NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523

G

colony stimulating factor 1

treatment

NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943

G

colony stimulating factor 1 receptor

treatment
ameliorates

PMID:19242505 PMID:21519331

RGD:151665824 RGD:7257569

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

cytotoxic T-lymphocyte associated protein 4

treatment

PMID:8206086 PMID:10712436

RGD:11352257 RGD:6902936

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

C-X3-C motif chemokine ligand 1

mRNA, protein:increased expression:glomerulus

NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760

G

C-X3-C motif chemokine receptor 1

mRNA, protein:increased expression:glomerulus

NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219

G

C-X-C motif chemokine ligand 12

mRNA:increased expression:glomerulus

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

G

dual specificity phosphatase 1

mRNA:increased expression:glomerulus

NCBI chr 5:168,121,536...168,124,671
Ensembl chr 5:175,032,803...175,035,960

G

Fc gamma receptor IIIa

no_association

DNA:polymorphism:exon:(rs396991)(human)
DNA:cnv: :

PMID:19640933 PMID:19946017

RGD:5508400 RGD:5508403

NCBI chr 1:137,027,943...137,036,738

G

glycoprotein VI platelet

NCBI chr19:52,051,138...52,071,673
Ensembl chr19:60,746,578...60,770,643

G

interleukin 10

treatment

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 17A

treatment

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 beta

mRNA, protein:increased expression:kidney
mRNA:increased expression:kidney (mouse)

PMID:9198037 PMID:22046355

RGD:6893447 RGD:7401232

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 4

PMID:9350645 PMID:17898087

RGD:2307059 RGD:2317673

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

integrin subunit alpha 4

treatment

PMID:7679412 PMID:9032136

RGD:2308810 RGD:9698425

NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203

G

lymphotactin

mRNA:increased expression:glomerulus

NCBI chr 1:143,837,578...144,068,261
Ensembl chr 1:147,785,654...147,790,587

G

HLA class II histocompatibility antigen, DP beta 1 chain

NCBI chr 6:32,648,780...32,659,613
Ensembl chr 6:33,763,566...33,774,387

G

mitogen-activated protein kinase 14

NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114

G

mitogen-activated protein kinase 8

NCBI chr10:45,806,748...45,936,362

G

macrophage migration inhibitory factor

NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009

G

matrix metallopeptidase 12

NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762

G

matrix metallopeptidase 14

mRNA:increased expression:kidney, macrophage

NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058

G

nitric oxide synthase 2

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

natriuretic peptide B

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

programmed cell death 1

treatment

NCBI chr12:130,849,353...130,858,776

G

platelet factor 4

treatment

NCBI chr 4:50,208,806...50,210,570
Ensembl chr 4:56,041,833...56,043,750

G

peroxisome proliferator activated receptor alpha

Ensembl chr22:45,218,364...45,302,970

G

protein tyrosine kinase 2 beta

protein:increased expression:glomerulus

NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474

G

Rap guanine nucleotide exchange factor 1

protein:increased expression:renal glomerulus

NCBI chr 9:102,698,970...102,861,482
Ensembl chr 9:131,337,001...131,495,664

G

selectin P

NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701

G

solute carrier family 34 member 1

protein:decreased expression:kidney, brush border membrane (mouse)

NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975

G

slit guidance ligand 2

mRNA:decreased expression:kidney, glomerulus

NCBI chr 4:14,654,448...15,023,708
Ensembl chr 4:20,158,952...20,314,656

G

secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

spleen associated tyrosine kinase

NCBI chr 9:61,859,767...61,956,619
Ensembl chr 9:89,959,599...90,056,101

G

tumor necrosis factor

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

vascular cell adhesion molecule 1

protein:increased expression:urine, serum:

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

autosomal dominant Alport syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss

PMID:1400291 PMID:2557550 PMID:6138234 PMID:7780062 PMID:7987301 More...

NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome | ClinVar Annotator: match by term: Renal failure and sensorineural hearing loss

PMID:9536098 PMID:9792860 PMID:11375996 PMID:11961012 PMID:12028435 More...

NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Alport syndrome 3, autosomal dominant | ClinVar Annotator: match by term: Autosomal dominant Alport syndrome

PMID:7599631 PMID:7695699 PMID:8218237 PMID:8651296 PMID:8940267 More...

NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095

G

myosin heavy chain 9

DNA:missense mutation:exon:4270G>C,D1424H (human)

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

autosomal recessive Alport syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 D

ClinVar Annotator: match by term: Autosomal recessive Alport syndrome

NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444

G

C-C motif chemokine receptor 1

NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome

PMID:1400291 PMID:6138234 PMID:7633417 PMID:7780062 PMID:7987301 More...

NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome
ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Autosomal recessive Alport syndrome

PMID:3385421 PMID:7987396 PMID:8787673 PMID:9195222 PMID:9536098 More...

NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892

G

gap junction protein beta 2

ClinVar Annotator: match by term: Autosomal recessive Alport syndrome

PMID:24033266 PMID:25741868

NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954

G

mitochondrial inner membrane protein MPV17

OMIM:203780

NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090

G

SEC61 translocon subunit alpha 1

ClinVar Annotator: match by term: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE

PMID:27392076 PMID:33185949

NCBI chr 3:125,091,916...125,111,238
Ensembl chr 3:132,457,005...132,476,935

Balkan nephropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

C1q Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q A chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:7594474 PMID:8840296 PMID:9225968 PMID:9590289 PMID:21654842 More...

NCBI chr 1:21,821,927...21,825,020

G

complement C1q B chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:17513176 PMID:21654842 PMID:25741868 PMID:28492532

NCBI chr 1:21,838,514...21,846,855
Ensembl chr 1:22,786,685...22,797,581

G

complement C1q C chain

ClinVar Annotator: match by term: C1Q deficiency

PMID:7029321 PMID:7900940 PMID:8630118 PMID:20635792 PMID:21654842 More...

NCBI chr 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176

C1q Deficiency 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q A chain

ClinVar Annotator: match by term: C1Q deficiency 1 | ClinVar Annotator: match by term: C1QA-related condition

PMID:25741868 PMID:28492532

NCBI chr 1:21,821,927...21,825,020

C1q Deficiency 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q B chain

ClinVar Annotator: match by term: C1Q deficiency 2 | ClinVar Annotator: match by term: C1QB-related condition

PMID:2894352 PMID:24160257 PMID:25741868 PMID:28492532

NCBI chr 1:21,838,514...21,846,855
Ensembl chr 1:22,786,685...22,797,581

C1q Deficiency 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C1q C chain

ClinVar Annotator: match by term: C1Q deficiency 3 | ClinVar Annotator: match by term: C1QC-related condition

PMID:7029321 PMID:8630118 PMID:24157463 PMID:28492532

NCBI chr 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176

C3 Glomerulopathy 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement factor H

ClinVar Annotator: match by term: C3 GLOMERULOPATHY 3 | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II

PMID:8072530 PMID:9536098 PMID:11158219 PMID:11170895 PMID:11978762 More...

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

complement factor H related 5

ClinVar Annotator: match by term: C3 glomerulonephritis | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II | ClinVar Annotator: match by term: CFHR5 deficiency

PMID:16299065 PMID:17000000 PMID:19365580 PMID:20513133 PMID:20800271 More...

NCBI chr 1:172,541,948...172,574,591
Ensembl chr 1:176,876,635...176,908,723

Chronic Mesangial Proliferative Glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X3-C motif chemokine ligand 1

NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760

G

C-X3-C motif chemokine receptor 1

NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219

Chronic Tubulointerstitial Nephropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

mRNA:increased expression:kidney (rat)

PMID:10844611 PMID:11135063

RGD:10755562 RGD:8549481

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

endothelin 1

mRNA:increased expression:renal cortex (rat)

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

heme oxygenase 1

NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063

G

NFE2 like bZIP transcription factor 2

protein:decreased localization:nucleus

NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085

crescentic glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

treatment

PMID:8903512 PMID:17314328

RGD:8549743 RGD:8549770

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

CD40 molecule

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

treatment

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

colony stimulating factor 1 receptor

treatment

NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415

G

interleukin 1 beta

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

treatment

human protein in a rat model

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

JunD proto-oncogene, AP-1 transcription factor subunit

NCBI chr19:17,755,331...17,757,164

G

low affinity immunoglobulin gamma Fc region receptor II-a

DNA:CNV:3'UTR:

NCBI chr 1:136,892,311...136,906,450

G

matrix metallopeptidase 12

PMID:12626598 PMID:20488952

RGD:2325762 RGD:737630

NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762

G

matrix metallopeptidase 3

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

matrix metallopeptidase 9

protein:increased expression:renal cortex (rat)

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mechanistic target of rapamycin kinase

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

G

signal transducer and activator of transcription 6

Ensembl chr12:32,068,679...32,085,099

focal segmental glomerulosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin converting enzyme 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:8,189,267...8,229,415
Ensembl chr X:15,470,896...15,510,891

G

actin alpha 2, smooth muscle

CTD Direct Evidence: marker/mechanism

NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080

G

actinin alpha 4

susceptibility

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:10700177 PMID:16251236 PMID:18594871 PMID:19142020 PMID:19956976 More...

NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508

G

actin related protein 3

protein:increased expression:renal glomerulus (rat)
DNA:missense mutation:cds:p.L111F (rat)

PMID:18064521 PMID:27251563

RGD:11575049 RGD:2292230

NCBI chr2B:827,184...900,424
Ensembl chr2B:114,373,392...114,445,729

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

PMID:19858406 PMID:21357516

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

protein:increased expression:kidney cortex

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

angiotensin II receptor type 2

protein:increased expression:kidney cortex

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

angiopoietin 2

mRNA, protein:increased expression:glomerulus (rat)

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

anillin, actin binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More...

NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251

G

bradykinin receptor B1

NCBI chr14:76,885,923...76,894,456

G

complement C2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr 6:31,590,135...31,606,368

G

complement C3

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:1976733 PMID:7870343 PMID:16687714 PMID:17634448 PMID:17767156 More...

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

caspase 9

treatment

NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266

G

catalase

NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160

G

cellular communication network factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077

G

CD2 associated protein

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:28492532

NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163

G

complement factor B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr 6:31,606,716...31,612,782

G

complement factor H

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:8072530 PMID:15870199 PMID:16299065 PMID:17089378 PMID:17947292 More...

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

complement factor I

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:18825487 PMID:25741868 PMID:28492532

NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581

G

cytidine monophosphate N-acetylneuraminic acid synthetase

NCBI chr12:64,234,241...64,253,306
Ensembl chr12:66,838,670...66,857,774

G

collagen type IV alpha 1 chain

CTD Direct Evidence: marker/mechanism

PMID:16191423 PMID:18682491

NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:14871398 PMID:17216251 PMID:18385178 PMID:24033266 PMID:24854265 More...

NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:12028435 PMID:15618242 PMID:17396119 PMID:19129241 PMID:20029656 More...

NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:8648925 PMID:9195222 PMID:10561141 PMID:10752524 PMID:14514738 More...

NCBI chr X:97,538,978...97,797,019
Ensembl chr X:108,008,689...108,166,095

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 4:40,913,015...40,934,594
Ensembl chr 4:46,762,659...46,784,014

G

coenzyme Q8B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:32543055

NCBI chr19:37,735,725...37,761,160
Ensembl chr19:46,242,576...46,267,503

G

crumbs cell polarity complex component 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855

G

cubilin

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25741868 PMID:28492532

NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545

G

EYA transcriptional coactivator and phosphatase 1

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720

NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829

G

fibronectin 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

hepatitis A virus cellular receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481

G

HR lysine demethylase and nuclear receptor corepressor

NCBI chr 8:21,359,348...21,378,315
Ensembl chr 8:18,298,709...18,316,151

G

heat shock protein family B (small) member 1

protein:increased expression:glomerulus, podocyte:

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

G

interleukin 1 beta

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

inverted formin 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:21866090 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30655312 More...

NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154

G

integrin subunit beta 3

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

integrin subunit beta 4

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:19406966 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467

G

laminin subunit beta 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074

G

lipase C, hepatic type

protein:reduced expression:serum (rat)

NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:28492532

NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420

G

nuclear RNA export factor 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr X:91,029,232...91,040,710

G

guanine nucleotide-binding protein G(q) subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849

G

lipoprotein lipase

NCBI chr 8:19,164,541...19,193,100
Ensembl chr 8:16,113,415...16,142,966

G

mediator complex subunit 28

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr 4:12,035,441...12,051,718
Ensembl chr 4:17,328,975...17,348,546

G

matrix metallopeptidase 2

mRNA, protein:increased expression, increased activity:kidney

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

mRNA, protein:increased expression, increased activity:kidney

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mitochondrial inner membrane protein MPV17

CTD Direct Evidence: marker/mechanism

NCBI chr2A:27,311,551...27,325,249
Ensembl chr2A:27,399,258...27,414,090

G

myosin heavy chain 10

CTD Direct Evidence: marker/mechanism

NCBI chr17:43,023,922...43,180,159
Ensembl chr17:47,761,322...47,911,192

G

myosin heavy chain 9

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 More...

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

myosin IE

CTD Direct Evidence: marker/mechanism

NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722

G

myosin IXA

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25741868 PMID:33412162

NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20182451 More...

NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216

G

NOC3 like DNA replication regulator

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr10:91,052,341...91,101,068
Ensembl chr10:94,579,840...94,609,405

G

nitric oxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

nephrocystin 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:28492532

NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205

G

nephrocystin 3

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25741868 PMID:28492532

NCBI chr 3:129,753,399...129,795,300

G

nephrocystin 4

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:28492532

NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864

G

NPHS1 adhesion molecule, nephrin

disease_progression

mRNA:increased expression:urine (human)
protein:decreased expression:kidney,renal glomerulus (human)

PMID:21414970 PMID:30900988

RGD:15023481 RGD:38549367

NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:1523708 PMID:8589695 PMID:10742096 PMID:11805166 PMID:11805168 More...

NCBI chr 1:155,038,753...155,064,332

G

nucleoporin 93

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

NCBI chr16:37,007,481...37,122,785
Ensembl chr16:56,140,546...56,255,561

G

paired box 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More...

NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028

G

proliferating cell nuclear antigen

CTD Direct Evidence: marker/mechanism

NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440

G

decaprenyl diphosphate synthase subunit 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:25741868 PMID:28492532

NCBI chr 6:104,963,942...105,272,807
Ensembl chr 6:108,833,223...109,137,055

G

protein inhibitor of activated STAT 1

NCBI chr15:47,006,718...47,141,035
Ensembl chr15:65,276,530...65,410,105

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:18975016 PMID:20507940 PMID:25060053 PMID:25741868 PMID:26467025 More...

NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024

G

phosphomannomutase 2

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More...

NCBI chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406

G

protein phosphatase 3 catalytic subunit alpha

NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394

G

protein phosphatase 3 catalytic subunit beta

NCBI chr10:69,984,241...70,043,352
Ensembl chr10:72,443,051...72,501,752

G

prosaposin

ClinVar Annotator: match by term: Hyalinosis, Segmental Glomerular

PMID:24033266 PMID:25741868 PMID:28492532 PMID:30976395 PMID:35456468

NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781

G

RAP1 GTPase activating protein

mRNA:increased expression:renal glomerulus (human)

NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405

G

RPGRIP1 like

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532

NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174

G

scavenger receptor class B member 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25088547 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132

G

serpin family E member 1

treatment

CTD Direct Evidence: marker/mechanism

PMID:18682491 PMID:22303720

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

sonic hedgehog signaling molecule

NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651

G

solute carrier family 17 member 5

ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:25741868 PMID:28492532 PMID:29140481

NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557

G

SNF2 related chromatin remodeling annealing helicase 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal

PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More...

NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

SLIT-ROBO Rho GTPase activating protein 1

NCBI chr12:24,760,093...25,066,794
Ensembl chr12:25,262,893...25,564,180

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

PMID:16191423 PMID:18682491 PMID:20493835

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transmembrane protein 63C

protein:decreased expression:kidney,renal glomerulus (human)

NCBI chr14:57,734,857...57,812,529
Ensembl chr14:76,974,416...77,011,555

G

tumor necrosis factor

protein:increased expression:serum

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF alpha induced protein 2

NCBI chr14:83,745,176...83,759,157
Ensembl chr14:103,561,181...103,570,309

G

TNF receptor superfamily member 1A

protein:increased expression:serum

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

TNF receptor superfamily member 1B

protein:increased expression:serum

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

G

transient receptor potential cation channel subfamily C member 6

treatment

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal
DNA:SNP:exon:p.P15S (human)

PMID:19936226 PMID:21839714 PMID:22980509 PMID:23385000 PMID:25019165 More...

RGD:7247440 RGD:7247444 RGD:7247445

NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685

G

very low density lipoprotein receptor

protein:decreased expression:adipose tissue, skeletal muscle (rat)

NCBI chr 9:2,428,639...2,463,796
Ensembl chr 9:2,621,199...2,653,980

G

von Willebrand factor

NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153

G

WT1 transcription factor

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis

PMID:7795587 PMID:8388765 PMID:9108089 PMID:9531607 PMID:10571943 More...

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

G

zinc metallopeptidase STE24

CTD Direct Evidence: marker/mechanism

NCBI chr 1:39,545,264...39,589,721
Ensembl chr 1:40,869,076...40,912,747

focal segmental glomerulosclerosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

actinin alpha 4

ClinVar Annotator: match by term: ACTN4-related condition | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1

PMID:9536098 PMID:10700177 PMID:16251236 PMID:17576681 PMID:18594871 More...

NCBI chr19:35,742,758...35,825,321
Ensembl chr19:44,313,569...44,395,508

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1

NCBI chr 4:77,788,074...78,316,357
Ensembl chr 4:88,619,296...89,045,861

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:8589695 PMID:10742096 PMID:11805166 PMID:15253708 PMID:15327385 More...

NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251

G

complement C2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr 6:31,590,135...31,606,368

G

complement C3

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:1976733 PMID:17634448 PMID:18325906 PMID:19168221 PMID:25741868 More...

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

CD2 associated protein

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163

G

complement factor B

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 More...

NCBI chr 6:31,606,716...31,612,782

G

complement factor I

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:18825487 PMID:25741868 PMID:28492532

NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:19129241 PMID:21196518 PMID:24052634 PMID:24522496 PMID:24854265 More...

NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892

G

cubilin

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129

G

EYA transcriptional coactivator and phosphatase 1

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:10991693 PMID:24033266 PMID:25741868 PMID:31049720

NCBI chr 8:67,728,057...68,060,069
Ensembl chr 8:69,387,769...69,551,829

G

inverted formin 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr19:32,769,592...32,785,045
Ensembl chr19:41,518,306...41,533,467

G

laminin subunit beta 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:20556798 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074

G

myosin heavy chain 9

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:19557653 PMID:23144074 PMID:24033266 PMID:25741868 PMID:26346198 More...

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

myosin IXA

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:33412162

NCBI chr15:50,771,747...51,069,700
Ensembl chr15:69,541,318...69,760,771

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:17509468 PMID:18263599 PMID:18311798 PMID:19319132 PMID:20182451 More...

NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216

G

nephrocystin 3

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr 3:129,753,399...129,795,300

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:8589695 PMID:10742096 PMID:11805166 PMID:11854170 PMID:12446471 More...

NCBI chr 1:155,038,753...155,064,332

G

nucleoporin 107

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1

NCBI chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642

G

paired box 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More...

NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024

G

phosphomannomutase 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More...

NCBI chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406

G

RPGRIP1 like

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:19430481 PMID:20301500 PMID:25741868 PMID:28492532

NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174

G

scavenger receptor class B member 2

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 4:47,992,589...48,047,528
Ensembl chr 4:53,830,488...53,886,059

G

SHH signaling and ciliogenesis regulator SDCCAG8

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

NCBI chr 1:218,856,571...219,107,855
Ensembl chr 1:224,239,009...224,481,132

G

solute carrier family 17 member 5

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532 PMID:29140481

NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557

G

SNF2 related chromatin remodeling annealing helicase 1

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More...

NCBI chr2B:103,672,934...103,743,802
Ensembl chr2B:222,276,353...222,347,258

G

transient receptor potential cation channel subfamily C member 6

ClinVar Annotator: match by term: Focal sclerosis with hyalinosis

PMID:25741868 PMID:28492532

NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685

focal segmental glomerulosclerosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transient receptor potential cation channel subfamily C member 6

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2 | ClinVar Annotator: match by term: TRPC6-related condition

PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:16932363 More...

NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685

focal segmental glomerulosclerosis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD2 associated protein

ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to

PMID:10514378 PMID:12764198 PMID:17713465 PMID:18443213 PMID:19131354 More...

NCBI chr 6:47,065,284...47,210,746
Ensembl chr 6:48,328,863...48,474,163

focal segmental glomerulosclerosis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylosuccinate synthase 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

Ensembl chr14:105,169,769...105,190,333

G

AHNAK nucleoprotein 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,587,016...85,627,319

G

AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756

G

BRF1 general transcription factor IIIB subunit

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465

G

BTB domain containing 6

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,883,988...85,886,491

G

cell division cycle associated 4

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,659,022...85,670,182
Ensembl chr14:105,444,672...105,445,397

G

centrosomal protein 170B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,515,684...85,548,410
Ensembl chr14:105,307,591...105,332,523

G

clathrin binding box of aftiphilin containing 1

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,634,349...85,649,411
Ensembl chr14:105,419,834...105,441,870

G

G protein-coupled receptor 132

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,697,589...85,716,764

G

inverted formin 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition

PMID:6054293 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20023659 More...

NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154

G

jagged canonical Notch ligand 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878

G

nudix hydrolase 14

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,816,561...85,824,887
Ensembl chr14:105,600,783...105,605,538

G

phosphofurin acidic cluster sorting protein 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,935,807...86,035,935
Ensembl chr14:105,737,878...105,810,349

G

phospholipase D family member 4

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,574,724...85,587,176
Ensembl chr14:105,360,584...105,369,247

G

SIVA1 apoptosis inducing factor

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,404,148...85,408,254
Ensembl chr14:105,196,118...105,202,678

G

zinc finger and BTB domain containing 42

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5

NCBI chr14:85,449,536...85,453,692
Ensembl chr14:105,243,998...105,245,266

focal segmental glomerulosclerosis 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lactate dehydrogenase A like 6B

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6

NCBI chr15:38,176,451...38,179,189
Ensembl chr15:56,484,343...56,485,488

G

myosin IE

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition

PMID:9536098 PMID:17576681 PMID:21756023 PMID:25741868 PMID:28492532 More...

NCBI chr15:38,106,599...38,343,040
Ensembl chr15:56,413,570...56,649,722

focal segmental glomerulosclerosis 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

paired box 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7

PMID:3077329 PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 More...

NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028

focal segmental glomerulosclerosis 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anillin, actin binding protein

ClinVar Annotator: match by term: ANLN-related condition | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8

PMID:24676636 PMID:25741868 PMID:28106320 PMID:28492532 PMID:29869118

NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137

G

synaptopodin

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8

PMID:25741868 PMID:33615071

NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595

focal segmental glomerulosclerosis 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crumbs cell polarity complex component 2

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9

PMID:25557779 PMID:25741868 PMID:26795916 PMID:27004616 PMID:27942854 More...

NCBI chr 9:94,473,423...94,511,285
Ensembl chr 9:123,011,968...123,032,855

Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tripartite motif containing 8

ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition

PMID:25741868 PMID:27346735 PMID:28492532 PMID:29758562 PMID:30244534 More...

NCBI chr10:99,242,187...99,256,342
Ensembl chr10:102,707,199...102,720,565

glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

adrenomedullin

associated with Anti-Glomerular Basement Membrane Disease
CTD Direct Evidence: marker/mechanism

PMID:15063164 PMID:15680492 PMID:16735801 PMID:20431304

RGD:1625317 RGD:2325320

NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842

G

angiotensinogen

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:11459117 PMID:15888567

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 2

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

allograft inflammatory factor 1

protein:increased expression:kidney (rat)

NCBI chr 6:31,276,215...31,278,051
Ensembl chr 6:32,166,301...32,168,125

G

albumin

CTD Direct Evidence: marker/mechanism

PMID:3160244 PMID:6343549 PMID:6769622 PMID:8501856 PMID:17161813 More...

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

arachidonate 15-lipoxygenase

NCBI chr17:4,686,339...4,696,877
Ensembl chr17:4,677,125...4,687,669

G

arachidonate 5-lipoxygenase activating protein

onset

protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat)

NCBI chr13:12,012,399...12,041,557
Ensembl chr13:30,425,510...30,476,607

G

annexin A5

NCBI chr 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972

G

apolipoprotein E

Apoe(-/-) Id3(-/-) double knockout

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

AXL receptor tyrosine kinase

NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747

G

BCL2 like 11

NCBI chr2A:90,862,070...90,909,833
Ensembl chr2A:112,337,927...112,385,079

G

bradykinin receptor B1

NCBI chr14:76,885,923...76,894,456

G

complement C1q A chain

susceptibility

DNA:nonsense mutation (human)

NCBI chr 1:21,821,927...21,825,020

G

complement C3

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

complement C6

NCBI chr 5:69,174,411...69,245,801
Ensembl chr 5:74,216,244...74,288,588

G

C-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

PMID:10385480 PMID:11157384

NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 5

CTD Direct Evidence: marker/mechanism

NCBI chr17:20,915,198...20,923,530
Ensembl chr17:21,210,798...21,219,172

G

CD163 molecule

associated with liver disease;protein:increased expression:blood serum (human)

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

CD59 molecule (CD59 blood group)

NCBI chr11:33,680,580...33,708,479
Ensembl chr11:33,552,164...33,590,157

G

complement factor D

CTD Direct Evidence: marker/mechanism

G

complement factor H

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

complement factor I

NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581

G

carnosine dipeptidase 1

NCBI chr18:67,920,453...67,982,843
Ensembl chr18:71,162,331...71,188,879
Ensembl chr18:71,162,331...71,188,879

G

collagen type IV alpha 3 chain

NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Glomerulonephritis

PMID:12028435 PMID:12325029 PMID:16467446 PMID:17216251 PMID:17942953 More...

NCBI chr2B:114,227,135...114,410,564
Ensembl chr2B:233,065,678...233,205,892

G

carboxypeptidase B2

NCBI chr13:26,926,788...26,979,767

G

colony stimulating factor 1

NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943

G

C-X3-C motif chemokine ligand 1

mRNA, protein:increased expression:glomerulus, urine

NCBI chr16:37,646,447...37,659,078
Ensembl chr16:56,779,065...56,791,760

G

C-X3-C motif chemokine receptor 1

mRNA:increased expression:glomerulus

PMID:10432400 PMID:14605272

RGD:4891995 RGD:4892027

NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219

G

C-X-C motif chemokine ligand 8

CTD Direct Evidence: marker/mechanism

PMID:9403216 PMID:10910440

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:60,880,759...60,883,355
Ensembl chr X:70,933,160...70,935,756

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604

G

elastase, neutrophil expressed

NCBI chr19:276,499...280,598

G

E1A binding protein p300

protein:increased expression:glomerulus, renal tubule (human)

NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604

G

estrogen receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

G

coagulation factor II, thrombin

protein:increased expression;urine

PMID:15164604 PMID:17519558

RGD:6893586 RGD:6893593

NCBI chr11:46,669,925...46,690,391
Ensembl chr11:47,227,891...47,249,157

G

Fas cell surface death receptor

treatment

CTD Direct Evidence: marker/mechanism

PMID:9466307 PMID:21880982 PMID:36999444

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

fibrillin 1

mRNA, protein:increased expression:renal glomerulus (rat)
mRNA:increased expression:renal cortex, renal glomerulus (rat)

PMID:16282705 PMID:16395273

RGD:7365077 RGD:7387262

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

G

Fc gamma receptor IIb

NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637

G

Fc gamma receptor IIIa

NCBI chr 1:137,027,943...137,036,738

G

fibronectin 1

disease_progression

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

PMID:11880336 PMID:31821871

RGD:405650596 RGD:7242278

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

growth arrest specific 6

Ensembl chr13:113,968,843...114,009,562

G

glial cell derived neurotrophic factor

treatment

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

gap junction protein alpha 5

NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413

G

interferon gamma

associated with kidney transplantation;mRNA:increased expression:kidney
CTD Direct Evidence: marker/mechanism

PMID:1825860 PMID:21546865 PMID:22495297

RGD:6893377 RGD:6893462

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 10

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 18

CTD Direct Evidence: therapeutic

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 alpha

associated with Malaria

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

CTD Direct Evidence: marker/mechanism

PMID:9403216 PMID:10910440

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor type 1

Ensembl chr2A:103,193,131...103,230,005

G

interleukin 1 receptor antagonist

mouse model treated with human protein
mRNA:increased expression:kidney (mouse)

PMID:21304992 PMID:22241891

RGD:6906885 RGD:6906960

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

interleukin 2

CTD Direct Evidence: marker/mechanism

PMID:9403216 PMID:10910440

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 2 receptor subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:6,053,549...6,103,863

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 7:23,415,922...23,420,767

G

inverted formin 2

ClinVar Annotator: match by term: Glomerulonephritis

PMID:25741868 PMID:28492532

NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154

G

integrin subunit alpha 3

protein:decreased expression:glomerulus (rat)

NCBI chr17:44,145,974...44,181,343
Ensembl chr17:49,019,892...49,055,245

G

integrin subunit alpha M

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

integrin subunit beta 1

protein:decreased expression:glomerulus (rat)

NCBI chr10:33,023,573...33,081,384
Ensembl chr10:33,608,978...33,644,031

G

integrin subunit beta 2

PMID:15277234 PMID:19752320

RGD:6907051 RGD:6907066

NCBI chr21:31,181,228...31,216,033
Ensembl chr21:44,470,999...44,505,963

G

integrin subunit beta 3

PMID:8083378 PMID:11051455

RGD:6907411 RGD:6907420

NCBI chr17:10,134,450...10,194,596
Ensembl chr17:10,353,111...10,392,382

G

JunD proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,755,331...17,757,164

G

kallikrein B1

protein:increased expression:plasma:

NCBI chr 4:178,398,359...178,429,448
Ensembl chr 4:190,604,901...190,636,300

G

laminin subunit beta 2

ClinVar Annotator: match by term: Glomerulonephritis

PMID:25741868 PMID:28492532

NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074

G

latent transforming growth factor beta binding protein 1

NCBI chr2A:32,956,937...33,409,286
Ensembl chr2A:33,667,191...34,120,602

G

leukotriene C4 synthase

protein:altered activity:kidney, cortex (rat)

NCBI chr 5:174,946,346...174,950,805

G

mitogen-activated protein kinase 1

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

G

matrix metallopeptidase 3

PMID:15034162 PMID:23224597

RGD:7241253 RGD:8694105

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

myeloperoxidase

disease_progression

PMID:17267745 PMID:19238910

RGD:7174702 RGD:7174705

NCBI chr17:52,333,882...52,357,838
Ensembl chr17:57,201,073...57,212,111

G

membrane spanning 4-domains A1

protein:increased expression:kidney, glomerulus (rat)

NCBI chr11:55,691,750...55,706,697
Ensembl chr11:59,134,617...59,149,521

G

methylenetetrahydrofolate reductase

DNA:transition:cds:g.677C>T (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

myosin heavy chain 9

ClinVar Annotator: match by term: Glomerulonephritis

PMID:25741868 PMID:28492532

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

nerve growth factor

CTD Direct Evidence: marker/mechanism
protein:increased expression:serum

PMID:19169037 PMID:24244623

NCBI chr 1:87,223,597...87,276,759

G

natriuretic peptide A

associated with Streptococcal Infections;protein:increased expression:plasma

NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373

G

poly(ADP-ribose) polymerase 1

severity

NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356

G

platelet derived growth factor subunit B

treatment

NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883

G

platelet derived growth factor D

NCBI chr11:98,852,652...99,110,147
Ensembl chr11:102,357,079...102,593,273

G

phospholipase A2 group VII

NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Glomerulonephritis

NCBI chr10:90,731,695...91,065,846
Ensembl chr10:94,278,550...94,575,024

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:4368615 PMID:6300362

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

G

peroxisome proliferator activated receptor gamma

CTD Direct Evidence: therapeutic

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

perforin 1

NCBI chr10:67,071,141...67,078,057
Ensembl chr10:69,597,574...69,603,070

G

platelet activating factor receptor

treatment

NCBI chr 1:27,405,880...27,436,184
Ensembl chr 1:28,447,833...28,448,861

G

protein tyrosine kinase 2 beta

protein:increased expression:glomerulus

NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474

G

secretoglobin family 1A member 1

recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice)

NCBI chr11:57,774,560...57,780,334
Ensembl chr11:61,133,649...61,137,873

G

serpin family E member 1

treatment

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

SMAD family member 1

protein:increased phosphorylation:glomerulus

NCBI chr 4:137,822,269...137,899,700
Ensembl chr 4:149,481,836...149,558,135

G

secreted phosphoprotein 1

disease_progression

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

thromboxane A synthase 1

NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523

G

transferrin

severity

NCBI chr 3:130,799,063...130,830,227
Ensembl chr 3:138,274,159...138,305,476

G

toll like receptor 2

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 4

PMID:16849506 PMID:20844472

RGD:4144104 RGD:7241071

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

PMID:9403216 PMID:10910440

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 1A

treatment
disease_progression

protein:increased expression:urine

PMID:20525973 PMID:23400706

RGD:7245516 RGD:7245540

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

TNF receptor superfamily member 1B

treatment

PMID:15841213 PMID:22449555 PMID:23400706

RGD:7245530 RGD:7245540 RGD:7245546

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

G

thyroid peroxidase

NCBI chr2A:1,364,083...1,491,284
Ensembl chr2A:1,335,556...1,493,055

G

vascular cell adhesion molecule 1

protein:increased expression:kidney

NCBI chr 1:103,377,815...103,395,118
Ensembl chr 1:102,091,336...102,107,732

G

vascular endothelial growth factor A

treatment

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

WT1 transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement factor H

DNA:SNPs,Haplotype::

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

Glomerulopathy with Giant Fibrillar Deposits

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2

PMID:25741868 PMID:28492532 PMID:29100092 PMID:32200603

NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360

G

fibronectin 1

ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2

PMID:1544672 PMID:7564073 PMID:7747733 PMID:9536098 PMID:12042895 More...

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

inverted formin 2

ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2

NCBI chr14:85,339,478...85,366,336
Ensembl chr14:105,145,779...105,163,154

glomerulosclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

advanced glycosylation end-product specific receptor

treatment

associated with Diabetic Nephropathies

PMID:20554645 PMID:23046363

RGD:7243247 RGD:7244139

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

angiotensin II receptor type 1

mRNA:decreased expression:kidney

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

angiotensin II receptor type 2

mRNA:increased expression:kidney
associated with Kidney Failure, Chronic

PMID:12495295 PMID:20042458 PMID:20631980

RGD:6903284 RGD:6903859 RGD:6903882

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

apolipoprotein E

protein:increased expression:renal glomerulus (rat)

PMID:21907828 PMID:22207560

RGD:6903199 RGD:6903285

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

collagen type III alpha 1 chain

NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956

G

estrogen receptor 2

susceptibility

protein:decreased expression:renal glomerulus (mouse)

NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303

G

fibrillin 1

associated with Hypertension

NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111

G

heparin binding EGF like growth factor

induced

NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531

G

interleukin 1 beta

associated with Hypertension

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

matrix metallopeptidase 1

protein:decreased expression:kidney (rat)
associated with Hyperhomocysteinemia

PMID:20406136 PMID:21275176

RGD:7207203 RGD:7207363

NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104

G

matrix metallopeptidase 9

associated with Hyperhomocysteinemia
associated with Obesity;mRNA:decreased expression:glomerulus

PMID:9300240 PMID:20406136

RGD:7207203 RGD:8547929

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

NPHS1 adhesion molecule, nephrin

treatment

NCBI chr19:32,742,802...32,770,600
Ensembl chr19:41,492,444...41,518,471

G

paired box 2

ClinVar Annotator: match by term: Glomerulosclerosis

PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More...

NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028

G

phospholipase A2 group VII

NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212

G

pleckstrin homology domain containing A7

ameliorates

compared to wild type

NCBI chr11:16,861,464...17,095,610
Ensembl chr11:16,555,368...16,647,075

G

peroxisome proliferator activated receptor gamma

treatment

NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060

G

regulator of G protein signaling 2

susceptibility

associated with Hypertension

NCBI chr 1:168,273,112...168,276,348
Ensembl chr 1:172,566,701...172,569,955

G

renalase, FAD dependent amine oxidase

NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990

G

serpin family E member 1

treatment

mRNA, protein:increased expression:kidney (rat)

PMID:26999660 PMID:27129290

RGD:11073618 RGD:11073688

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

SHC adaptor protein 1

ameliorates

NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008

G

solute carrier family 2 member 1

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

secreted phosphoprotein 1

NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935

G

synaptopodin

treatment

NCBI chr 5:146,048,956...146,083,490
Ensembl chr 5:152,046,207...152,085,595

G

TNF receptor superfamily member 1B

associated with Hypertension

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

Granulomatous Interstitial Nephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

mRNA, protein:increased expression:kidney, serum (rat)

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

Hypertensive Nephropathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

treatment

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

treatment

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

cofilin 1

protein:increased phosphorylation:kidney (rat)

NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806

G

collagen type I alpha 1 chain

mRNA:increased expression:juxtamedullary cortex (rat)

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

matrix metallopeptidase 2

ameliorates

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

natriuretic peptide B

NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995

G

periostin

disease_progression

mRNA,protein:increased expression:kidney:

NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212

G

peroxisome proliferator activated receptor alpha

Strain: SHRSP

Ensembl chr22:45,218,364...45,302,970

G

recombination activating 1

ameliorates

NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904

G

SHC adaptor protein 1

NCBI chr 1:130,310,778...130,323,001
Ensembl chr 1:133,920,532...133,929,008

G

sirtuin 6

protein:decreased expression:kidney

NCBI chr19:3,196,092...3,204,602
Ensembl chr19:4,146,057...4,154,126

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 18

ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

PMID:2484451 PMID:12740761 PMID:24697860 PMID:25741868 PMID:28492532 More...

IgA glomerulonephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

disease_progression

DNA:polymorphism:intron:
ClinVar Annotator: match by term: Susceptibility to progression to renal failure in IgA nephropathy

PMID:1313972 PMID:1319114 PMID:1328889 PMID:1386652 PMID:1976655 More...

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

acyl-CoA synthetase medium chain family member 3

disease_progression

DNA:polymorphism: :

NCBI chr16:17,611,715...17,644,587
Ensembl chr16:20,796,425...20,829,315

G

ADAM metallopeptidase domain 10

CTD Direct Evidence: marker/mechanism

NCBI chr15:37,562,930...37,717,175
Ensembl chr15:55,873,606...56,027,188

G

adducin 1

disease_progression

DNA:polymorphism:cds:rs4961(human)

NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012

G

adducin 2

disease_progression

DNA:polymorphism:cds: rs4984(human)

NCBI chr2A:70,724,454...70,831,248
Ensembl chr2A:71,839,470...71,895,106

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044

G

angiotensin II receptor type 1

protein:increased expression:kidney tubule

NCBI chr 3:145,722,475...145,767,550
Ensembl chr 3:153,341,947...153,345,380

G

angiotensin II receptor type 2

disease_progression

DNA:polymorphism: :1818A>T (human)
protein:increased expression:kidney tubule

PMID:15930094 PMID:19194560

RGD:6903844 RGD:6903851

NCBI chr X:105,252,903...105,257,171
Ensembl chr X:115,671,594...115,672,685

G

aurora kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr17:43,447,661...43,453,864
Ensembl chr17:48,180,066...48,186,129

G

beta-1,4-galactosyltransferase 1

OMIM:161950 | OMIM:616818

NCBI chr 9:32,889,124...32,945,759
Ensembl chr 9:33,691,733...33,754,192

G

complement C1q A chain

CTD Direct Evidence: marker/mechanism

PMID:8840296 PMID:25133636

NCBI chr 1:21,821,927...21,825,020

G

complement C1q B chain

CTD Direct Evidence: marker/mechanism

NCBI chr 1:21,838,514...21,846,855
Ensembl chr 1:22,786,685...22,797,581

G

complement C2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:31,590,135...31,606,368

G

complement C3

mRNA,protein:increased expression, increased activity:kidney

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

caspase recruitment domain family member 9

CTD Direct Evidence: marker/mechanism

NCBI chr 9:107,432,709...107,446,271
Ensembl chr 9:136,416,279...136,424,756

G

C-C motif chemokine ligand 2

protein:increased expression:kidney

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine ligand 20

disease_progression

NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225

G

C-C motif chemokine receptor 6

disease_progression

NCBI chr 6:165,094,563...165,109,774
Ensembl chr 6:170,069,689...170,084,779

G

CD14 molecule

disease_progression

DNA:polymorphism:promoter:c. -159C>T (human)

NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966

G

CD163 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023

G

CD44 molecule (IN blood group)

CTD Direct Evidence: marker/mechanism

NCBI chr11:35,110,732...35,258,238
Ensembl chr11:34,985,634...35,079,009

G

complement factor B

disease_progression

protein:increased expression:serum
mRNA:increased expression:kidney

PMID:3118258 PMID:8567024 PMID:17385664

RGD:7242737 RGD:7242754 RGD:7242759

NCBI chr 6:31,606,716...31,612,782

G

chromogranin A

associated with Hypertension;DNA:polymorphism:promoter:-415T>C (human)

NCBI chr14:73,555,834...73,568,547
Ensembl chr14:92,895,450...92,908,159

G

coronin 1C

CTD Direct Evidence: marker/mechanism

NCBI chr12:106,220,755...106,306,098
Ensembl chr12:109,617,093...109,674,368

G

C-X-C motif chemokine receptor 2

DNA:SNPs: :rs4674257, rs4674259 (human)

NCBI chr2B:105,387,198...105,400,533
Ensembl chr2B:223,997,066...223,998,148

G

fatty acid binding protein 1

protein:increased expression:urine (human)

NCBI chr2A:87,256,032...87,303,505
Ensembl chr2A:89,165,315...89,170,448

G

Fas cell surface death receptor

treatment

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fc alpha receptor

PMID:21985370 PMID:22451718

RGD:7242063 RGD:7242167

NCBI chr19:51,919,345...51,935,340
Ensembl chr19:60,614,405...60,630,480

G

Fc gamma receptor IIIa

disease_progression

DNA:polymorphism:exon:p.F176V(human)

NCBI chr 1:137,027,943...137,036,738

G

fibronectin 1

protein:increased expression:kidney

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

forkhead box M1

CTD Direct Evidence: marker/mechanism

NCBI chr12:2,978,400...2,999,077
Ensembl chr12:2,910,028...2,930,503

G

G protein-coupled receptor 183

CTD Direct Evidence: marker/mechanism

NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305

G

hepatitis A virus cellular receptor 1

protein:increased expression:urine:

PMID:21467131 PMID:23135864

RGD:7245479 RGD:7245983

NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481

G

heparanase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:40,863,491...40,905,693
Ensembl chr 4:46,709,621...46,755,157

G

insulin like growth factor 1 receptor

DNA: snp::rs2229765

NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974

G

interleukin 18

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 alpha

no_association

DNA:SNP:promoter

NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801

G

interleukin 1 beta

no_association

DNA:SNP
DNA:SNPs: :rs1143627, rs3917356, rs1143633 (human)

PMID:19280228 PMID:21049406

RGD:6907082 RGD:6907116

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

susceptibility

rat model treated with human protein
protein:decreased expression:serum, urine (human)
mouse model treated with human protein
response to immunoglobulin therapy
DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
DNA:polymorphisms:intron, 3' utr:IVS1+1890G>T, IVS1+8796A>G, *138C>G (rs928940, rs439154, rs315951) (human)

PMID:9370186 PMID:9844059 PMID:10079261 PMID:10566895 PMID:10916103 More...

RGD:6906961 RGD:6907082 RGD:6907414 RGD:6907427 RGD:6909131 RGD:6909132 RGD:6909150

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

kinesin family member 15

CTD Direct Evidence: marker/mechanism

NCBI chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700

G

leukocyte associated immunoglobulin like receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:51,306,570...51,316,878
Ensembl chr19:60,146,873...60,156,597

G

lysosomal protein transmembrane 5

CTD Direct Evidence: marker/mechanism

NCBI chr 1:30,005,941...30,031,366
Ensembl chr 1:31,032,963...31,058,385

G

lipocalin 2

protein:increased expression:urine:

NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798

G

LHFPL tetraspan subfamily member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:36,663,171...36,825,272
Ensembl chr 5:37,289,046...37,314,043

G

HLA class II histocompatibility antigen, DQ beta 1 chain

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :HLA-DQB1*0301(human)

PMID:7638860 PMID:25305756

NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272

G

defensin alpha 5

CTD Direct Evidence: marker/mechanism

PMID:22197929 PMID:25305756

NCBI chr 8:264,298...265,962

G

complement factor H-related protein 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:172,355,204...172,389,914

G

mannosidase alpha class 2B member 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056

G

MER proto-oncogene, tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr2A:89,977,226...90,109,970
Ensembl chr2A:113,056,852...113,162,052

G

matrix metallopeptidase 14

mRNA:increased expression:glomerulus

NCBI chr14:3,654,125...3,665,158
Ensembl chr14:21,753,305...21,764,058

G

membrane spanning 4-domains A6A

CTD Direct Evidence: marker/mechanism

NCBI chr11:55,402,207...55,413,959
Ensembl chr11:58,847,867...58,860,947

G

5-methyltetrahydrofolate-homocysteine methyltransferase

DNA:polymorphism:Cds :2756A>G(human)

NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946

G

nerve growth factor

DNA:SNP: :rs11102930 (human)

NCBI chr 1:87,223,597...87,276,759

G

notch receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840

G

OTU deubiquitinase, ubiquitin aldehyde binding 1

protein:increased expression:kidney

NCBI chr11:59,342,820...59,355,386
Ensembl chr11:62,690,542...62,706,542

G

phosphodiesterase 5A

DNA:SNP: :rs13124532(human)

NCBI chr 4:111,682,772...111,817,234
Ensembl chr 4:122,832,175...122,966,636

G

polymeric immunoglobulin receptor

ClinVar Annotator: match by term: IgA glomerulonephritis

PMID:12740691 PMID:16282702

NCBI chr 1:182,532,773...182,550,662
Ensembl chr 1:186,811,152...186,829,793

G

phospholipase A2 group VII

disease_progression

DNA:polymorphism:exon:

NCBI chr 6:46,264,262...46,318,487
Ensembl chr 6:47,558,861...47,590,212

G

plasminogen activator, urokinase

CTD Direct Evidence: therapeutic

NCBI chr10:70,433,340...70,441,569
Ensembl chr10:73,105,895...73,113,136

G

protein regulator of cytokinesis 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:69,659,420...69,687,707
Ensembl chr15:88,856,323...88,884,071

G

secretoglobin family 1A member 1

disease_progression

OMIM:161950 | OMIM:616818

NCBI chr11:57,774,560...57,780,334
Ensembl chr11:61,133,649...61,137,873

G

selectin E

ClinVar Annotator: match by term: IgA nephropathy, susceptibility to

PMID:11828340 PMID:16282702

NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313

G

selectin L

PMID:11828340 PMID:17452405

RGD:1625253 RGD:7175290

NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393

G

serpin family B member 7

disease_progression

DNA:SNPs:3' utr:2093C>T, 2180C>T (human)
DNA:SNP: :23167A>G (human)
DNA:SNP:5' utr, exon:267G>A (human)

PMID:16550745 PMID:16796905 PMID:18793525

RGD:7207366 RGD:7207372 RGD:7207380

NCBI chr18:57,112,242...57,164,213
Ensembl chr18:60,445,135...60,475,165

G

sonic hedgehog signaling molecule

NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651

G

solute carrier family 43 member 3

CTD Direct Evidence: marker/mechanism

NCBI chr11:52,647,840...52,668,017
Ensembl chr 3:160,138,345...160,158,459

G

sprouty RTK signaling antagonist 2

susceptibility

ClinVar Annotator: match by term: IgA nephropathy, susceptibility to, 3

PMID:25741868 PMID:25782674

NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408

G

ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:70,513,376...70,534,277
Ensembl chr17:76,204,947...76,226,088

G

signal transducer and activator of transcription 4

disease_progression
no_association

DNA:SNP: :rs7561832 (human)
DNA:SNP:intron:c.274-28828C>G (rs10181656) (human)

PMID:20045654 PMID:20479942

RGD:7207872 RGD:7207878

NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

TIMP metallopeptidase inhibitor 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:40,018,190...40,022,636
Ensembl chr X:47,914,906...47,919,419

G

toll like receptor 1

susceptibility

DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human)

NCBI chr 4:33,119,485...33,133,541
Ensembl chr 4:38,979,006...38,981,366

G

tumor necrosis factor

treatment

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 1A

treatment

protein:increased expression:serum

PMID:9844059 PMID:16209246

RGD:6907414 RGD:6909132

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

TNF receptor superfamily member 1B

treatment

protein:increased expression:serum

PMID:9844059 PMID:16209246

RGD:6907414 RGD:6909132

NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646

G

TNF superfamily member 13

CTD Direct Evidence: marker/mechanism

NCBI chr17:7,589,931...7,593,527
Ensembl chr17:7,576,465...7,579,834

G

TNF superfamily member 13b

OMIM:161950

NCBI chr13:89,399,044...89,438,837
Ensembl chr13:108,536,617...108,574,296

G

TNF superfamily member 14

OMIM:161950

NCBI chr19:5,691,648...5,700,935
Ensembl chr19:6,614,378...6,621,763

G

vav guanine nucleotide exchange factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:110,101,651...110,531,294
Ensembl chr 1:109,210,813...109,617,658

G

V-set and immunoglobulin domain containing 4

CTD Direct Evidence: marker/mechanism

NCBI chr X:55,137,938...55,155,569
Ensembl chr X:65,211,313...65,229,332

G

WASP actin nucleation promoting factor

OMIM:161950 | OMIM:616818

NCBI chr X:40,982,132...40,989,767
Ensembl chr X:48,842,765...48,850,380

interstitial nephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

CTD Direct Evidence: marker/mechanism

PMID:10916085 PMID:12217854 PMID:18176075 PMID:23994741

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

C-C motif chemokine ligand 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,425,022...22,430,243
Ensembl chr17:22,719,425...22,722,341

G

C-C motif chemokine ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-reactive protein

onset

associated with ureteral obstruction
CTD Direct Evidence: marker/mechanism

PMID:17014549 PMID:21383672

NCBI chr 1:135,062,102...135,064,402

G

cytochrome P450 family 2 subfamily C member 9

CTD Direct Evidence: marker/mechanism

NCBI chr10:91,547,865...91,598,918
Ensembl chr10:95,022,482...95,105,653

G

decorin

CTD Direct Evidence: marker/mechanism

NCBI chr12:88,678,791...88,715,677
Ensembl chr12:91,994,129...92,031,413

G

eotaxin

NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345
Ensembl chr17:22,806,076...22,808,345

G

cytochrome P450 2D6-like

CTD Direct Evidence: marker/mechanism

NCBI chr22:23,022,449...23,031,627

G

nerve growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,223,597...87,276,759

G

renalase, FAD dependent amine oxidase

NCBI chr10:84,996,999...85,304,240
Ensembl chr10:88,503,683...88,808,990

G

thrombospondin 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170

G

xanthine dehydrogenase

NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455

karyomegalic interstitial nephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FANCD2 and FANCI associated nuclease 1

ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis

PMID:7847351 PMID:8546134 PMID:16678356 PMID:17304531 PMID:20621605 More...

NCBI chr15:9,395,348...9,435,434
Ensembl chr15:28,433,749...28,473,211

G

myotubularin related protein 10

ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis

PMID:7847351 PMID:16678356 PMID:17304531 PMID:20621605 PMID:20670886 More...

NCBI chr15:9,431,261...9,484,107
Ensembl chr15:28,469,039...28,521,997

lipoid nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1A

treatment

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

interleukin 13

NCBI chr 5:128,073,863...128,078,453
Ensembl chr 5:134,235,788...134,240,548

G

interleukin 17A

Protein:increased expression:plasma (rat)

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

galectin 1

protein:decreased expression:glomerulus, podocytes (rat)

NCBI chr22:18,593,154...18,597,432
Ensembl chr22:36,426,228...36,430,356

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Lipoid nephrosis

PMID:23687361 PMID:32581362

NCBI chr 9:97,730,850...97,820,554
Ensembl chr 9:126,240,722...126,322,420

G

nuclear receptor subfamily 3 group C member 1

disease_progression

NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269

G

signal transducer and activator of transcription 6

no_association
severity

DNA:polymorphism:3' utr:2964G>A (human)
DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:repeat:exon, 5' utr:g.-3041(GT)15-16 (human)

PMID:12900808 PMID:15687724 PMID:19011907

RGD:7244138 RGD:7244144 RGD:7244146

Ensembl chr12:32,068,679...32,085,099

lupus nephritis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advanced glycosylation end-product specific receptor

DNA:polymorphisms:promoter, intron:g.-429T>C rs1800625, g.-374T>A rs1800624, g.2184A>G rs3134940 (human)

NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641

G

apolipoprotein C3

protein:increased expression:serum

NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460

G

complement C3

protein:decreased expression:serum
CTD Direct Evidence: marker/mechanism

PMID:21888025 PMID:31182691

NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699

G

C-C motif chemokine ligand 2

severity
susceptibility

protein:increased expression:urine (human)
DNA:snp:promoter:g.-2518A>G (human)

PMID:8558841 PMID:15188361

RGD:11528534 RGD:8549732

NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384

G

C-C motif chemokine receptor 1

disease_progression

NCBI chr 3:46,107,526...46,114,229
Ensembl chr 3:47,214,688...47,215,755

G

CD40 molecule

treatment

PMID:18566369 PMID:19265127 PMID:23799000

RGD:7248418 RGD:7248425 RGD:7248429

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

CD40 ligand

treatment

protein:increased expression:serum

PMID:11751940 PMID:12632425 PMID:13130474 PMID:15693003 PMID:20726330

RGD:7248426 RGD:7248439 RGD:7248600 RGD:7248710 RGD:7248714

NCBI chr X:125,776,138...125,788,820
Ensembl chr X:136,042,849...136,058,202

G

complement factor B

PMID:3183062 PMID:10623824 PMID:21893562

RGD:7242736 RGD:7242755 RGD:7242763

NCBI chr 6:31,606,716...31,612,782

G

complement factor H

NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521

G

clusterin

mRNA:increased expression: epithelial cell of renal tubule

NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523

G

collagen type I alpha 1 chain

mRNA, protein:increased expression:kidney cortex
associated with Graft vs Host Disease

PMID:7700025 PMID:7723234 PMID:21354048

RGD:5688301 RGD:5688332 RGD:5688333

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

C-reactive protein

no_association

DNA:SNP

PMID:15692982 PMID:17596285 PMID:18852001 PMID:20039408

RGD:5508454 RGD:6907400 RGD:6909145 RGD:6909146

NCBI chr 1:135,062,102...135,064,402

G

colony stimulating factor 1

PMID:17659436 PMID:21885670

RGD:7257567 RGD:7257589

NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943

G

cytotoxic T-lymphocyte associated protein 4

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

epidermal growth factor

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

PMID:33632240 PMID:38555047

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fc gamma receptor IIb

NCBI chr 1:137,074,342...137,090,962
Ensembl chr 1:140,882,043...140,890,637

G

Fc gamma receptor IIIa

susceptibility

DNA:SNP:cds:p.V158F (human)

NCBI chr 1:137,027,943...137,036,738

G

interferon gamma

protein:increased expression:serum,urine
CTD Direct Evidence: marker/mechanism
protein:increased processing:kidney

PMID:22764573 PMID:29925830 PMID:31182691

RGD:14974252 RGD:6893369

NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829

G

interleukin 17A

treatment

NCBI chr 6:51,736,269...51,740,538
Ensembl chr 6:53,004,820...53,009,074

G

interleukin 18

NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371

G

interleukin 1 beta

mRNA:increased expression:renal glomerulus (mouse)

PMID:20410215 PMID:21641991

RGD:7175315 RGD:7175344

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor antagonist

resistance

associated with Lupus Erythematosus, Systemic; protein:increased expression:serum (human)

NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839

G

integrin subunit alpha M

NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406

G

Janus kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,083,562...64,315,909
Ensembl chr 1:65,973,904...66,024,991