Urination Disorders - 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:	Urination Disorders	go back to main search page
Accession:	DOID:9003919	browse the term
Definition:	Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE.
Synonyms:	exact_synonym:	Urination Disorder
	primary_id:	MESH:D014555

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Rat (633) Mouse (430) Human (8125) Chinchilla (389) Bonobo (416) Dog (417) Squirrel (393) Pig (410) Green Monkey (409) Naked Mole-rat (392) All
Genes (417)

Urination Disorders

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

estrogen receptor 1

treatment

NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544

G

estrogen receptor 2

treatment

NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691

G

glial fibrillary acidic protein

associated with spinal cord injuries

NCBI chr 9:18,569,868...18,579,463
Ensembl chr 9:18,569,892...18,579,461

G

5-hydroxytryptamine receptor 2A

treatment

associated with Experimental Diabetes Mellitus

NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037

G

nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332

G

natriuretic peptide A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385

G

transient receptor potential cation channel subfamily V member 4

CTD Direct Evidence: marker/mechanism

NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165

G

alpha tocopherol transfer protein

CTD Direct Evidence: marker/mechanism

NCBI chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553

G

vimentin

associated with spinal cord injuries

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

Albuminuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

associated with Diabetes Mellitus, Type 1;protein:increased activity:serum (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetic Nephropathies

PMID:1336356 PMID:16902320 PMID:23733546

RGD:12879427 RGD:7829770

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

adrenomedullin

associated with Hypertension

NCBI chr21:33,472,197...33,474,472
Ensembl chr21:33,471,623...33,474,495

G

advanced glycosylation end-product specific receptor

treatment

associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2; protein:increased expression:serum (human)
associated with Diabetic Nephropathies

PMID:20627935 PMID:21607631 PMID:21796806

RGD:7243944 RGD:7244135 RGD:7244184

NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

PMID:12414515 PMID:18679781 PMID:21896938

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

aldo-keto reductase family 1 member B

associated with Diabetes Mellitus, Experimental;human gene in a rat model

NCBI chr14:2,991,888...3,006,941
Ensembl chr14:2,991,888...3,006,940

G

albumin

associated with hypertension
associated with Diabetes Mellitus, Insulin-Dependent

PMID:15102963 PMID:19414946

RGD:1601157 RGD:2306884

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

arachidonate 12-lipoxygenase, 12S type

associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:cds:p.R261Q (human)

NCBI chr 5:32,026,193...32,038,698
Ensembl chr 5:31,882,501...32,038,119

G

beta-2-microglobulin

associated with HIV infections;protein:increased expression:urine

NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997

G

calcium sensing receptor

associated with Uremia

NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559

G

chemokine (C-C motif) ligand 4

associated with Diabetes Mellitus, Type 2;protein:increased expression:urine

NCBI chr 9:37,681,342...37,682,691
Ensembl chr 9:37,676,966...37,710,209

G

CD38 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 3:64,529,129...64,577,755
Ensembl chr 3:64,529,721...64,578,099

G

class II major histocompatibility complex transactivator

DNA:polymorphism:promoter:-168A>G, in non-diabetic subjects

NCBI chr 6:31,774,486...31,837,025
Ensembl chr 6:31,774,609...31,836,820

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369

G

C-reactive protein

severity

associated with Anemia, Sickle Cell; protein:increased expression:serum
associated with hypertension

PMID:20016210 PMID:20710104

RGD:6907441 RGD:6909147

NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166

G

colony stimulating factor 1

treatment

associated with Hypercholesterolemia and Diabetes Mellitus, Experimental

NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371

G

cathepsin B

associated with Hypertension

NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801

G

cathepsin L family member 3

associated with Hypertension

NCBI chr 1:72,215,774...72,219,093

G

dopamine receptor D1

DNA:polymorphism:5' utr:g.-94G>A rs5326 (human)

NCBI chr 4:37,550,454...37,554,641
Ensembl chr 4:37,549,708...37,553,287

G

endothelin 1

protein:increased expression:renal papilla (rat)

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

erythropoietin

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

coagulation factor VII

no_association
severity

associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)

PMID:8250495 PMID:8458188 PMID:9187410

RGD:2312406 RGD:2312407 RGD:2312410

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

fibrillin 1

associated with Hypertension

NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151

G

gamma-glutamyltransferase 1

associated with Diabetes Mellitus; protein:increased activity:serum

NCBI chr26:28,301,455...28,315,029

G

G protein subunit alpha q

CTD Direct Evidence: marker/mechanism

NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065

G

glypican 5

CTD Direct Evidence: therapeutic

NCBI chr22:42,526,426...43,873,992
Ensembl chr22:42,526,054...43,870,405

G

hepatitis A virus cellular receptor 1

associated with Anemia, Sickle Cell;protein:increased expression:urine:

NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952

G

insulin like growth factor 1

susceptibility

NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794

G

interleukin 1 beta

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

insulin

CTD Direct Evidence: marker/mechanism

PMID:9861226 PMID:29420703

NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122

G

leptin receptor

CTD Direct Evidence: marker/mechanism

PMID:17065336 PMID:20175764 PMID:23159718 PMID:28130181 PMID:29988851

NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636

G

lipase C, hepatic type

associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)

NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037

G

cystatin-C-like

associated with Diabetes Mellitus, Non-Insulin Dependent; protein:increased expression:serum (human)

NCBI chr23:49,562...53,618

G

LDL receptor related protein 2

NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546

G

microRNA mir-130a

CTD Direct Evidence: marker/mechanism

NCBI chr18:38,543,618...38,543,679
Ensembl chr18:38,543,618...38,543,681

G

microRNA mir-145

CTD Direct Evidence: marker/mechanism

NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210

G

microRNA mir-155

CTD Direct Evidence: marker/mechanism

NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833

G

microRNA mir-424

CTD Direct Evidence: marker/mechanism

NCBI chr X:105,183,437...105,183,493
Ensembl chr X:105,183,437...105,183,493

G

matrix metallopeptidase 9

onset

associated with Diabetes Mellitus, Type 2; protein:increased expression:plasma (human)

NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293

G

methylenetetrahydrofolate reductase

susceptibility

associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)

NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818

G

myosin heavy chain 9

associated with hypertension;DNA:SNPs: :

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:33,297,660...33,374,025
Ensembl chr23:33,297,756...33,372,534

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,584,351...37,734,388
Ensembl chr10:37,585,565...37,732,994

G

NPHS1 adhesion molecule, nephrin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

nuclear receptor subfamily 4 group A member 1

compared to FHH

NCBI chr27:2,947,729...2,965,045
Ensembl chr27:2,891,053...2,955,655

G

podoplanin

NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375

G

paraoxonase 1

DNA:polymorphisms:promoter, cds (human)

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

PPARG coactivator 1 alpha

associated with Diabetes Mellitus, Type 2; DNA:snp:cds:g.75919G>A rs8192678 (human)

NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

parathyroid hormone

associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)

NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 6:17,049,352...17,051,348
Ensembl chr 6:17,049,705...17,051,240

G

RAB38, member RAS oncogene family

compared to FHH-Tg(CAG-Rab38)1Mcwi, FHH.BN-(D1Hmgc14-D1Hmgc15)/Mcwi

PMID:15758045 PMID:23291471

RGD:1357409 RGD:13782139

NCBI chr21:11,769,924...11,823,546
Ensembl chr21:11,769,351...11,822,815

G

recombination activating 1

NCBI chr18:31,628,231...31,639,980
Ensembl chr18:31,630,737...31,641,660

G

renin

CTD Direct Evidence: marker/mechanism

PMID:12414515 PMID:18679781

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

resistin

associated with Hypertension;protein:increased expression:blood

NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624

G

serpin family E member 1

associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

serpin family F member 1

treatment

associated with Diabetes Mellitus, Experimental; human gene in a rat model

NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765

G

SH2B adaptor protein 3

NCBI chr26:9,033,851...9,073,095
Ensembl chr26:9,005,281...9,070,204

G

SHC adaptor protein 1

ameliorates

NCBI chr 7:42,501,829...42,509,613
Ensembl chr 7:42,500,185...42,508,276

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

secreted phosphoprotein 1

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

transmembrane protein 63C

mRNA:increased expression:kidney,renal glomerulus (rat)

NCBI chr 8:50,000,306...50,076,457
Ensembl chr 8:50,020,823...50,074,060

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425

G

transient receptor potential cation channel subfamily C member 3

associated with Hypertension;mRNA, protein:increased expression:kidney cortex

NCBI chr19:18,207,565...18,272,551
Ensembl chr19:18,207,417...18,271,828

G

transient receptor potential cation channel subfamily C member 5

NCBI chr X:84,835,130...84,989,609
Ensembl chr X:84,801,096...85,116,625

G

transient receptor potential cation channel subfamily C member 6

associated with Hypertension;mRNA:decreased expression:kidney cortex

PMID:19887786 PMID:21839714

RGD:7247445 RGD:7247603

NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:1,502,469...1,507,696
Ensembl chr 3:1,503,188...1,507,696

G

vascular cell adhesion molecule 1

associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma

NCBI chr 6:49,341,669...49,359,841
Ensembl chr 6:49,342,151...49,359,933

anuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensinogen

CTD Direct Evidence: therapeutic

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

protein kinase AMP-activated non-catalytic subunit beta 1

treatment

NCBI chr26:15,706,583...15,716,612
Ensembl chr26:15,706,678...15,715,314

benign familial hematuria

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: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria

PMID:2557550 PMID:9536098 PMID:11134255 PMID:11961012 PMID:12028435 More...

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria

PMID:8787673 PMID:9536098 PMID:9792860 PMID:11961012 PMID:12325029 More...

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Familial hematuria

PMID:25741868 PMID:28492532 PMID:29764427

NCBI chr24:46,315,008...46,351,279

G

myosin IE

ClinVar Annotator: match by term: Microscopic hematuria

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr30:24,067,622...24,265,567
Ensembl chr30:24,068,283...24,265,311

G

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Microscopic hematuria

PMID:25741868 PMID:28492532

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Microscopic hematuria

NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770

G

WT1 transcription factor

ClinVar Annotator: match by term: Microscopic hematuria

PMID:9108089 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

Benign Familial Hematuria 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: COL4A4-related condition

PMID:9536098 PMID:9792860 PMID:12325029 PMID:12631110 PMID:14871398 More...

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

Benign Familial Hematuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 3 chain

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

cataract 47

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 16 member 12

ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuria

PMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 More...

NCBI chr28:4,343,773...4,430,653
Ensembl chr28:4,345,546...4,421,234

Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1

NCBI chr X:122,838,787...122,850,870
Ensembl chr X:122,838,645...122,850,884

Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NOP10 ribonucleoprotein

ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

NCBI chr30:766,801...767,615
Ensembl chr30:766,853...767,613

CD59 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD59 molecule

ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy

PMID:1382994 PMID:23149847 PMID:24382084 PMID:25741868 PMID:28492532

NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329

Chronic Benign Proteinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cubilin

ClinVar Annotator: match by term: Proteinuria, chronic benign

PMID:9536098 PMID:10080186 PMID:15024727 PMID:16199547 PMID:17576681 More...

NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839

Congenital Lower Urinary Tract Obstruction

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

basonuclin zinc finger protein 2

ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital

PMID:25741868 PMID:28492532 PMID:31051115

NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679

G

peptidylprolyl isomerase C

ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital

NCBI chr11:12,882,676...12,893,337
Ensembl chr11:12,883,113...12,889,427

G

PR/SET domain 6

ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital

NCBI chr11:12,942,789...13,046,278
Ensembl chr11:12,943,432...13,044,673

G

synuclein alpha interacting protein

ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital

NCBI chr11:12,226,940...12,375,725
Ensembl chr11:12,301,719...12,375,560

G

sorting nexin 2

ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital

NCBI chr11:12,633,270...12,691,099
Ensembl chr11:12,633,289...12,690,740

G

sorting nexin 24

ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital

NCBI chr11:12,776,934...12,869,304
Ensembl chr11:12,708,712...12,888,165

Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aspartoacylase

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532

NCBI chr 9:47,338,435...47,361,974
Ensembl chr 9:47,343,120...47,360,914

G

cystinosin, lysosomal cystine transporter

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 More...

NCBI chr 9:47,474,488...47,490,951
Ensembl chr 9:47,473,901...47,490,252

G

sedoheptulokinase

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More...

NCBI chr 9:47,445,969...47,486,756

G

Tax1 binding protein 3

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532

NCBI chr 9:47,492,371...47,497,298
Ensembl chr 9:47,493,069...47,497,203

G

transient receptor potential cation channel subfamily V member 1

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 More...

NCBI chr 9:47,404,987...47,443,871
Ensembl chr 9:47,404,972...47,431,926

G

transient receptor potential cation channel subfamily V member 3

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532

NCBI chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362

Diffuse Mesangial Sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Diffuse mesangial sclerosis

PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

G

laminin subunit beta 2

ClinVar Annotator: match by term: Diffuse mesangial sclerosis

PMID:25741868 PMID:28492532

NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523

G

phospholipase C epsilon 1

DNA:mutations: :

NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770

G

WT1 transcription factor

ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

Donnai-Barrow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LMBR1 domain containing 1

ClinVar Annotator: match by term: Donnai-Barrow syndrome

PMID:19136951 PMID:25741868 PMID:28492532

NCBI chr12:32,274,056...32,383,737
Ensembl chr12:32,274,412...32,383,578

G

LDL receptor related protein 2

ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition

PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More...

NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546

familial nephrotic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Hereditary nephrotic syndrome

PMID:25741868 PMID:28492532

NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Congenital nephrotic syndrome

PMID:18436095 PMID:19406966 PMID:25741868 PMID:26467025 PMID:28117080 More...

NCBI chr 1:116,784,756...116,792,138
Ensembl chr 1:116,784,745...116,792,709

G

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Familial nephrotic syndrome

PMID:9915943 PMID:10652016 PMID:11317351 PMID:11854170 PMID:12039988 More...

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Hereditary nephrotic syndrome

PMID:15954915 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

female stress incontinence

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of G protein signaling 2

NCBI chr38:6,200,237...6,203,491
Ensembl chr38:6,200,657...6,203,494

Galloway-Mowat syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:31481669

NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414

G

L antigen family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:122,185,300...122,186,498

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828

NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173

G

TP53 regulating kinase

CTD Direct Evidence: marker/mechanism

NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446

G

TP53RK binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767

G

WD repeat domain 4

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:30079490

NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788

G

WD repeat domain 73

CTD Direct Evidence: marker/mechanism

NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034

G

zinc finger protein 592

CTD Direct Evidence: marker/mechanism

NCBI chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486

Galloway-Mowat syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endoglin

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1

PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 More...

NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064

G

WD repeat domain 73

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition

PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 More...

NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034

G

zinc finger protein 592

ClinVar Annotator: match by term: Galloway-Mowat syndrome 1

PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727

NCBI chr 3:53,980,438...54,056,011
Ensembl chr 3:53,990,434...54,114,486

Galloway-Mowat Syndrome 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromosome 15 C1orf122 homolog

ClinVar Annotator: match by term: Galloway-Mowat syndrome 10

NCBI chr15:4,723,244...4,724,512
Ensembl chr15:4,723,616...4,724,386

G

yrdC N6-threonylcarbamoyltransferase domain containing

ClinVar Annotator: match by term: Galloway-Mowat syndrome 10

PMID:31481669 PMID:34545459

NCBI chr15:4,724,468...4,728,659
Ensembl chr15:4,723,716...4,728,000

Galloway-Mowat syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

L antigen family member 3

ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked

PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828

NCBI chr X:122,185,300...122,186,498

Galloway-Mowat syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Galloway-Mowat syndrome 3

PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 More...

NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173

Galloway-Mowat syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TP53 regulating kinase

ClinVar Annotator: match by term: Galloway-Mowat syndrome 4

PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362

NCBI chr24:33,895,530...33,898,461
Ensembl chr24:33,895,640...33,898,446

Galloway-Mowat syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TP53RK binding protein

ClinVar Annotator: match by term: Galloway-Mowat syndrome 5

PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259

NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767

Galloway-Mowat Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 4

ClinVar Annotator: match by term: Galloway-Mowat syndrome 6

PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 More...

NCBI chr31:37,085,126...37,106,803
Ensembl chr31:37,085,779...37,106,788

Galloway-Mowat Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 107

ClinVar Annotator: match by term: Galloway-Mowat syndrome 7

PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 More...

NCBI chr10:10,838,881...10,887,347
Ensembl chr10:10,838,944...10,887,197

Galloway-Mowat Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 133

ClinVar Annotator: match by term: Galloway-Mowat syndrome 8

PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554

NCBI chr 4:9,751,902...9,805,796
Ensembl chr 4:9,751,986...9,805,033

Galloway-Mowat Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Galloway-Mowat syndrome 9

PMID:25741868 PMID:31481669

NCBI chr 8:62,406,682...62,410,476
Ensembl chr 8:62,407,136...62,410,414

Glycosuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hepatocyte nuclear factor 4 alpha

ClinVar Annotator: match by term: Glycosuria

PMID:9267996 PMID:9313765 PMID:9449683 PMID:10983627 PMID:15793260 More...

NCBI chr24:31,847,864...31,908,337
Ensembl chr24:31,847,961...31,905,916

Hematuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

asparaginase

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,747,319...71,764,570
Ensembl chr 8:71,753,164...71,765,349

G

complement C3

protein:increased expression:renal arteriole:

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria

PMID:8956999 PMID:16199547 PMID:24052634 PMID:24854265 PMID:25307543 More...

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Hematuria

PMID:24052634 PMID:24854265 PMID:25741868 PMID:26809805 PMID:28492532 More...

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

G

collagen type IV alpha 5 chain

onset

ClinVar Annotator: match by term: Hematuria

PMID:9150741 PMID:11223851 PMID:12028435 PMID:12796257 PMID:14514738 More...

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

cytochrome P450 family 1 subfamily A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866

G

coagulation factor VII

CTD Direct Evidence: therapeutic

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

Fos proto-oncogene, AP-1 transcription factor subunit

treatment

NCBI chr 8:48,330,856...48,334,273
Ensembl chr 8:48,331,026...48,333,467

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Macroscopic hematuria

NCBI chr24:46,315,008...46,351,279

G

LIM homeobox transcription factor 1 beta

CTD Direct Evidence: marker/mechanism

NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530

G

plasminogen activator, urokinase

CTD Direct Evidence: marker/mechanism

NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:1267567 PMID:1324751

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

hypoparathyroidism-deafness-renal disease syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA binding domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,631,458...21,639,510

G

aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,661,333...30,691,283
Ensembl chr 2:30,674,558...30,690,043

G

aldo-keto reductase family 1 member E2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,694,119...30,706,693
Ensembl chr 2:30,694,249...30,706,637

G

ankyrin repeat domain 16

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,095,941...30,105,739
Ensembl chr 2:30,095,548...30,105,212

G

ADP ribosylation factor like GTPase 5B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,441,251...18,476,989
Ensembl chr 2:18,445,860...18,471,066

G

ankyrin repeat and SOCS box containing 13

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,244,619...30,314,314
Ensembl chr 2:30,293,451...30,311,817

G

ATP synthase F1 subunit gamma

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,306,857...28,325,149
Ensembl chr 2:28,306,857...28,325,116

G

BEN domain containing 7

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,975,673...23,057,029
Ensembl chr 2:22,977,139...23,054,867

G

complement C1q like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,300,916...20,308,393
Ensembl chr 2:20,301,008...20,307,603

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286

G

calmodulin like 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,431,088...30,431,950
Ensembl chr 2:30,429,338...30,431,948

G

calcium/calmodulin dependent protein kinase ID

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,680,395...24,113,922
Ensembl chr 2:23,685,672...24,114,084

G

coiled-coil domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,477,696...23,593,107
Ensembl chr 2:23,477,696...23,591,036

G

cell division cycle 123

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,184,780...24,239,495
Ensembl chr 2:24,184,807...24,240,081

G

cerebral dopamine neurotrophic factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,795,701...21,814,359
Ensembl chr 2:21,795,821...21,814,320

G

CUGBP Elav-like family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:25,003,810...25,818,264
Ensembl chr 2:25,004,580...25,520,136

G

cubilin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839

G

DNA cross-link repair 1C

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,688,822...21,725,021
Ensembl chr 2:21,688,766...21,724,248

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899

G

enoyl-CoA hydratase domain containing 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,600,563...24,619,948
Ensembl chr 2:24,599,709...24,619,958

G

family with sequence similarity 107 member B

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,015,294...22,085,890
Ensembl chr 2:21,859,935...22,083,555

G

family with sequence similarity 171 member A1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,445,602...21,505,564
Ensembl chr 2:21,445,726...21,504,249

G

F-box DNA helicase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,047,994...30,095,761
Ensembl chr 2:30,048,567...30,095,696

G

FERM domain containing 4A

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,128,030...22,857,707
Ensembl chr 2:22,248,890...22,857,220

G

GATA binding protein 3

ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More...

NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760

G

GDP dissociation inhibitor 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,150,769...30,168,957
Ensembl chr 2:30,150,769...30,169,110

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,362,488...19,383,090
Ensembl chr 2:19,362,403...19,383,090

G

interleukin 15 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,981,385...30,034,364
Ensembl chr 2:29,981,234...30,038,945

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,892,130...29,948,926
Ensembl chr 2:29,894,125...29,944,643

G

integrin subunit alpha 8

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,034,630...21,244,304
Ensembl chr 2:21,075,653...21,241,951

G

inter-alpha-trypsin inhibitor heavy chain 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,367,842...28,403,610
Ensembl chr 2:28,367,908...28,403,667

G

inter-alpha-trypsin inhibitor heavy chain 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,437,907...28,507,008
Ensembl chr 2:28,441,056...28,506,966

G

Kin17 DNA and RNA binding protein

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,325,243...28,360,790
Ensembl chr 2:28,324,723...28,360,773

G

calmodulin-like protein 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,410,830...30,411,981

G

phytanoyl-CoA hydroxylase-like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497

G

minichromosome maintenance 10 replication initiation factor

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,288,249...23,344,060
Ensembl chr 2:23,292,253...23,344,719

G

meiosis/spermiogenesis associated 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,675,003...21,684,020
Ensembl chr 2:21,675,012...21,679,456

G

MINDY lysine 48 deubiquitinase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,948,946...21,014,938
Ensembl chr 2:20,865,946...21,014,429

G

neuroepithelial cell transforming 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,450,946...30,463,280
Ensembl chr 2:30,450,965...30,492,074

G

N-myristoyltransferase 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,569,692...21,609,585
Ensembl chr 2:21,556,246...21,609,325

G

NOP2/Sun RNA methyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,477,150...18,534,716
Ensembl chr 2:18,477,211...18,534,710

G

nudix hydrolase 5

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,239,632...24,266,763
Ensembl chr 2:24,239,627...24,264,469

G

optineurin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511

G

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,716,866...29,785,643
Ensembl chr 2:29,716,752...29,801,936

G

protein kinase C theta

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,319,123...29,505,338
Ensembl chr 2:29,318,870...29,505,337

G

proline and serine rich 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,510,659...24,550,712
Ensembl chr 2:24,512,531...24,550,709

G

pre-mRNA processing factor 18

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:22,868,184...22,922,647

G

phosphotriesterase related

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,237,673...20,377,290
Ensembl chr 2:20,280,990...20,342,390

G

RNA binding motif protein 17

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:29,828,720...29,853,922
Ensembl chr 2:29,829,210...29,853,841

G

ribonuclease P/MRP subunit p38

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,612,114...21,617,371
Ensembl chr 2:21,612,200...21,614,485

G

Ras suppressor protein 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:20,050,029...20,299,179
Ensembl chr 2:20,050,117...20,299,184

G

SEC61 translocon subunit alpha 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,267,260...24,292,466
Ensembl chr 2:24,267,271...24,349,736

G

selenophosphate synthetase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,147,303...23,178,808
Ensembl chr 2:23,146,353...23,177,174

G

Scm like with four mbt domains 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,637,365...28,856,505
Ensembl chr 2:28,661,058...28,853,364

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,392,690...19,618,127
Ensembl chr 2:19,482,468...19,616,339

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,264,392...19,344,187
Ensembl chr 2:19,266,055...19,344,045

G

SUV39H2 histone lysine methyltransferase

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:21,715,677...21,749,732
Ensembl chr 2:21,728,964...21,749,597

G

TATA-box binding protein associated factor 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:28,121,719...28,298,961
Ensembl chr 2:28,122,649...28,298,946

G

transcription activation suppressor family member 2

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,170,539...30,244,738
Ensembl chr 2:30,170,994...30,244,726

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,702,561...19,763,744
Ensembl chr 2:19,677,444...19,763,741

G

tubulin alpha like 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,523,678...30,531,909
Ensembl chr 2:30,523,652...30,532,263

G

upper zone of growth plate and cartilage matrix associated

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:23,287,410...23,307,116
Ensembl chr 2:23,287,551...23,298,035

G

urocortin 3

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:30,541,316...30,547,839
Ensembl chr 2:30,541,779...30,542,282

G

UPF2 regulator of nonsense mediated mRNA decay

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,370,961...24,473,437
Ensembl chr 2:24,371,058...24,472,140

G

USP6 N-terminal like

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:24,724,454...24,894,052
Ensembl chr 2:24,743,120...24,891,668

G

vimentin

ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

Imerslund-Grasbeck Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...

NCBI chr 8:70,800,435...70,807,835

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:18,537,100...18,787,728
Ensembl chr 2:18,538,620...18,902,286

G

CDC42 binding protein kinase beta

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...

NCBI chr 8:70,809,943...70,915,922
Ensembl chr 8:70,811,023...71,033,324

G

cubilin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 PMID:15963748 More...

NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:19,362,488...19,383,090
Ensembl chr 2:19,362,403...19,383,090

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647

G

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:19,392,690...19,618,127
Ensembl chr 2:19,482,468...19,616,339

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:19,264,392...19,344,187
Ensembl chr 2:19,266,055...19,344,045

G

TNF receptor associated factor 3

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 8:70,739,389...70,794,448
Ensembl chr 8:70,739,417...70,790,645

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:19,702,561...19,763,744
Ensembl chr 2:19,677,444...19,763,741

G

vimentin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

Imerslund-Grasbeck Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

Intestinal cobalamin malabsorption, AMN-related
ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type

PMID:1848001 PMID:1941244 PMID:1999430 PMID:6741523 PMID:9536098 More...

NCBI chr 8:70,800,435...70,807,835

G

cobalamin binding intrinsic factor

protein:increased excretion:urine:
DNA:polymorphisms, missense mutations, splice sites:exon,intron:

PMID:10435666 PMID:15738392

RGD:11049583 RGD:11049586

NCBI chr21:50,334,769...50,350,598
Ensembl chr21:50,334,769...50,350,598

G

CDC42 binding protein kinase beta

ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type

PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...

NCBI chr 8:70,809,943...70,915,922
Ensembl chr 8:70,811,023...71,033,324

G

cubilin

ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
Intestinal cobalamin (vitamin B12) malabsorption, CUBN-related

OMIM
ClinVar
OMIA

PMID:1848001 PMID:1941244 PMID:1999430 PMID:9536098 PMID:10080186 More...

NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839

Imerslund-Grasbeck Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE | ClinVar Annotator: match by term: Megaloblastic anemia 1, Norwegian type

PMID:6741523 PMID:9536098 PMID:12590260 PMID:13852753 PMID:15024727 More...

NCBI chr 8:70,800,435...70,807,835

G

CDC42 binding protein kinase beta

ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE

PMID:12590260 PMID:15024727 PMID:16199547 PMID:17114957 PMID:17285242 More...

NCBI chr 8:70,809,943...70,915,922
Ensembl chr 8:70,811,023...71,033,324

Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 3

ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 7, WITH INTERSTITIAL LUNG DISEASE AND NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

PMID:22512483 PMID:24088041 PMID:25741868 PMID:25810266 PMID:26633545 More...

NCBI chr 9:26,065,792...26,095,649
Ensembl chr 9:26,062,393...26,094,422

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 chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281

G

interleukin 13

NCBI chr11:20,957,870...20,961,391
Ensembl chr11:20,958,464...20,961,388

G

interleukin 17A

Protein:increased expression:plasma (rat)

NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513

G

galectin 1

protein:decreased expression:glomerulus, podocytes (rat)

NCBI chr10:26,932,351...26,935,580
Ensembl chr10:26,932,301...26,935,646

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Lipoid nephrosis

PMID:23687361 PMID:32581362

NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530

G

NPHS1 adhesion molecule, nephrin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

nuclear receptor subfamily 3 group C member 1

disease_progression

NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755

G

signal transducer and activator of transcription 6

severity
no_association

DNA:polymorphism:3' utr:g.2964G>A (human)
DNA:polymorphism:3' utr: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

NCBI chr10:1,232,515...1,247,011
Ensembl chr10:1,233,691...1,247,075

nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

Adriamycin Nephrosis
protein:increased activity:multiple (rats)

PMID:8303709 PMID:8665777

RGD:12879388 RGD:8157608

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

angiopoietin 1

mRNA, protein:decreased expression:glomerulus

NCBI chr13:8,068,920...8,312,090
Ensembl chr13:8,048,205...8,311,618

G

angiopoietin 2

mRNA:increased expression:kidney (rat)

PMID:18929864 PMID:18929866

RGD:2314177 RGD:2314178

NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701

G

catalase

mRNA: decreased expression: glomerulus

NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447

G

C-C motif chemokine ligand 1

NCBI chr 9:38,931,895...38,936,969
Ensembl chr 9:38,933,514...38,961,187

G

C-C motif chemokine ligand 7

NCBI chr 9:38,994,638...38,996,103
Ensembl chr 9:38,993,911...39,010,483

G

CD36 molecule (CD36 blood group)

NCBI chr18:20,299,808...20,375,856
Ensembl chr18:20,339,050...20,372,639

G

CD40 ligand

NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006

G

CD59 molecule

NCBI chr18:33,977,433...33,999,145
Ensembl chr18:33,977,480...33,998,329

G

complement factor H

protein:altered expression:kidney:

NCBI chr38:2,878,677...2,956,226

G

C-X3-C motif chemokine ligand 1

NCBI chr 2:59,022,794...59,032,095
Ensembl chr 2:59,022,794...59,032,095

G

C-X3-C motif chemokine receptor 1

NCBI chr23:8,937,069...8,954,738
Ensembl chr23:8,938,906...8,952,808

G

cytochrome P450 family 11 subfamily A member 1

mRNA:decreased expression

NCBI chr30:37,474,997...37,487,028
Ensembl chr30:37,473,901...37,487,507

G

cytochrome P450 family 27 subfamily B member 1

NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911

G

DNA damage inducible transcript 3

CTD Direct Evidence: marker/mechanism
Protein:increased expression:glomerulus, podocyte

NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr37:25,933,525...25,939,910
Ensembl chr37:25,933,455...25,940,985

G

endothelin 1

CTD Direct Evidence: marker/mechanism
mRNA:increased expression:glomerulus (rat)

PMID:7756592 PMID:9175058

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

endothelin receptor type B

CTD Direct Evidence: marker/mechanism

NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459

G

GATA binding protein 3

HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957

NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760

G

glutathione peroxidase 1

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

hepatitis A virus cellular receptor 1

mRNA,protein:increased expression:kidney:

NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952

G

heparanase

CTD Direct Evidence: marker/mechanism

NCBI chr32:7,166,437...7,199,659
Ensembl chr32:7,167,856...7,199,665

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interleukin 1 beta

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018

G

laminin subunit beta 2

NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523

G

LDL receptor related protein 2

mRNA:decreased expression:glomerulus

NCBI chr36:13,910,450...14,107,081
Ensembl chr36:13,911,865...14,107,546

G

nestin

mRNA, protein:increased expression:glomerulus
CTD Direct Evidence: marker/mechanism

PMID:16418842 PMID:17637254

NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

natriuretic peptide A

protein:increased expression:plasma

NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385

G

natriuretic peptide B

protein:increased expression:plasma

NCBI chr 2:84,395,844...84,397,473

G

podoplanin

mRNA, protein:decreased expression:glomerulus

NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375

G

protein tyrosine phosphatase receptor type U

mRNA, protein:decreased expression:glomerulus

NCBI chr 2:71,284,979...71,363,253
Ensembl chr 2:71,285,851...71,363,691

G

renin

CTD Direct Evidence: marker/mechanism

PMID:2046802 PMID:6358456

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

steroidogenic acute regulatory protein

mRNA:decreased expression:ovary

NCBI chr16:27,326,355...27,331,025
Ensembl chr16:27,326,355...27,331,025

G

vimentin

mRNA,protein:increased expression:podocyte
CTD Direct Evidence: marker/mechanism

NCBI chr 2:19,671,316...19,679,367
Ensembl chr 2:19,671,316...19,679,466

nephrotic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

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

PMID:9453001 PMID:11304663

NCBI chr27:36,654,328...36,695,775

G

acetyl-CoA acetyltransferase 1

protein:increased expression:kidney (rat)

NCBI chr 5:24,361,301...24,379,807
Ensembl chr 5:24,361,301...24,379,812

G

angiotensin I converting enzyme

treatment

protein:increased activity:multiple

PMID:2175683 PMID:15942045

RGD:11038913 RGD:1598707

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

actinin alpha 4

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:114,354,993...114,427,997
Ensembl chr 1:114,309,693...114,427,991

G

alanine--glyoxylate and serine--pyruvate aminotransferase

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:10453743 PMID:15327387 PMID:15464418 PMID:17495019 PMID:19479957 More...

NCBI chr25:50,968,291...50,976,089

G

albumin

CTD Direct Evidence: marker/mechanism

PMID:1556257 PMID:17178036 PMID:22203175

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

ALMS1 centrosome and basal body associated protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr17:49,301,397...49,513,729
Ensembl chr17:49,301,606...49,513,625

G

arachidonate 5-lipoxygenase

NCBI chr28:2,170,920...2,218,765
Ensembl chr28:2,170,920...2,219,609

G

anillin, actin binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr14:47,805,113...47,854,749
Ensembl chr14:47,804,845...47,853,633

G

apolipoprotein A1

NCBI chr 5:16,740,071...16,742,081
Ensembl chr 5:16,740,130...16,741,943

G

apolipoprotein B

protein:increased expression:serum (rat)

NCBI chr17:15,877,937...15,916,032
Ensembl chr17:15,878,244...15,915,135

G

apolipoprotein C2

protein:increased expression:serum

NCBI chr 1:110,504,806...110,506,986
Ensembl chr 1:110,504,815...110,506,961

G

apolipoprotein C3

protein:increased expression:serum

NCBI chr 5:16,744,423...16,746,992
Ensembl chr 5:16,744,423...16,746,992

G

apolipoprotein E

protein:increased expression:serum (human)

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr32:8,838,567...9,574,712
Ensembl chr32:9,073,260...9,579,472

G

Rho GDP dissociation inhibitor alpha

OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861

NCBI chr 9:419,350...422,284
Ensembl chr 9:419,413...423,252

G

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

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11805166 PMID:12464671 PMID:12707396 More...

NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823

G

B9 domain containing 2

CTD Direct Evidence: marker/mechanism

PMID:1281619 PMID:8023968 PMID:10515446

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

bone gamma-carboxyglutamate protein

protein:decreased expression:serum

NCBI chr 7:41,630,092...41,630,976
Ensembl chr 7:41,630,098...41,665,791

G

CD2 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr17:54,171,764...54,184,221
Ensembl chr17:54,171,848...54,184,225

G

cyclin dependent kinase 20

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:97,623,126...97,662,668
Ensembl chr 1:97,622,998...97,662,662

G

complement factor I

disease_progression

NCBI chr32:29,936,447...29,986,755
Ensembl chr32:29,936,393...29,985,724

G

cofilin 1

treatment

NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:15086899 PMID:15895257 PMID:19657328 PMID:22083641 PMID:23566014 More...

NCBI chr X:42,705,789...42,860,701
Ensembl chr X:42,704,627...42,853,812

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:19008299 PMID:25741868 PMID:29127259

NCBI chr 9:6,965,583...6,990,905
Ensembl chr 9:6,957,192...6,978,309

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927

G

collagen type IV alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666

G

collagen type IV alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr22:58,656,579...58,820,560
Ensembl chr22:58,697,175...58,773,297

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:28844315 PMID:30828794 PMID:34113375

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:21196518 PMID:24854265 PMID:25307543 PMID:25741868 PMID:26467025 More...

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:7599631 PMID:7695699 PMID:8218237 PMID:9848783 PMID:15044104 More...

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:17855635 PMID:20495179 PMID:20689595 PMID:23349334 PMID:25349199 More...

NCBI chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764

G

coenzyme Q8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33532864

NCBI chr 1:113,056,369...113,075,773
Ensembl chr 1:113,057,141...113,102,074

G

carboxypeptidase B2

protein:increased activity,increased expression:plasma

NCBI chr22:5,074,805...5,126,635
Ensembl chr22:5,074,816...5,126,170

G

cystinosin, lysosomal cystine transporter

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:10556299 PMID:19580442 PMID:24464559 PMID:25741868 PMID:29127259

NCBI chr 9:47,474,488...47,490,951
Ensembl chr 9:47,473,901...47,490,252

G

cathepsin L family member 3

mRNA, protein:increased expression:glomerulus (rat)

NCBI chr 1:72,215,774...72,219,093

G

dopa decarboxylase

protein:decreased activity:renal cortex (rat)

NCBI chr18:1,802,239...1,876,714
Ensembl chr18:1,803,273...1,867,616

G

DEAD-box helicase 53

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr X:18,776,178...18,778,327

G

diacylglycerol O-acyltransferase 1

mRNA,protein:increased expression:liver:

NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916

G

diacylglycerol kinase epsilon

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23274426 PMID:25349199 PMID:25741868 PMID:29127259

NCBI chr 9:31,666,727...31,690,878
Ensembl chr 9:31,667,101...31,685,464

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28492532 PMID:29127259

NCBI chr 2:24,298,323...24,349,848
Ensembl chr 2:24,299,789...24,349,899

G

endothelin converting enzyme 1

mRNA,protein:increased expression:kidney:

NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

endothelin receptor type A

mRNA:increased expression:Glomerulus

NCBI chr15:45,823,472...45,878,527
Ensembl chr15:45,823,560...45,876,463

G

erythropoietin

treatment

NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144

G

coagulation factor III, tissue factor

CTD Direct Evidence: marker/mechanism

NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:26905694 PMID:28492532

NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151

G

fibronectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123

G

galactosidase alpha

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr X:75,311,536...75,320,391
Ensembl chr X:75,311,536...75,320,249

G

glycoprotein Ib platelet subunit alpha

protein: reduced expression: :

NCBI chr 5:31,681,605...31,683,261

G

glycerol-3-phosphate acyltransferase, mitochondrial

NCBI chr28:23,261,673...23,323,985
Ensembl chr28:23,258,428...23,298,017

G

glypican 5

CTD Direct Evidence: therapeutic

NCBI chr22:42,526,426...43,873,992
Ensembl chr22:42,526,054...43,870,405

G

glutathione peroxidase 1

mRNA:increased expression:kidney

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

glutathione peroxidase 3

protein:decreased expression:plasma
mRNA:decreased expression:kidney

PMID:12824952 PMID:20685819

RGD:1625122 RGD:7205671

NCBI chr 4:58,200,671...58,209,010
Ensembl chr 4:58,200,672...58,209,010

G

glutathione peroxidase 4

mRNA:decreased expression:kidney

G

guanylate cyclase activator 2B

CTD Direct Evidence: marker/mechanism

NCBI chr15:1,094,283...1,096,605
Ensembl chr15:1,094,276...1,096,688

G

MHC class II DLA DRB1 beta chain

CTD Direct Evidence: marker/mechanism

PMID:6420562 PMID:11095018

NCBI chr12:2,151,409...2,164,564

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:81,966,397...81,970,301
Ensembl chr 5:81,966,937...81,968,991

G

insulin like growth factor binding protein acid labile subunit

NCBI chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652

G

interleukin 1 beta

severity

protein:increased expression:serum (human)
associated with Purpura, Schoenlein-Henoch; DNA:snp:promoter:g.-511C>T (human)

PMID:14760799 PMID:21103916 PMID:21359962

RGD:7175324 RGD:7175337 RGD:7175339

NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458

G

interleukin 1 receptor antagonist

DNA:repeats:intron:IVS2+914_1000dup IL1RN*1, IL1RN*2 (human)

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394

G

interleukin 4

treatment

NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534

G

interleukin 5

NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269

G

inverted formin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29127259

NCBI chr 8:72,275,209...72,284,991

G

integrin subunit alpha 3

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:22512483 PMID:29127259

NCBI chr 9:26,065,792...26,095,649
Ensembl chr 9:26,062,393...26,094,422

G

integrin subunit beta 4

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532

NCBI chr 9:4,825,148...4,855,266
Ensembl chr 9:4,825,292...4,855,820

G

intersectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29773874

NCBI chr31:29,144,754...29,360,134

G

intersectin 2

NCBI chr17:18,627,543...18,756,669
Ensembl chr17:18,627,935...18,756,114

G

Janus kinase 2

NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997

G

KN motif and ankyrin repeat domains 4

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:25961457 PMID:28492532 PMID:29127259

NCBI chr 5:47,771,672...47,839,768
Ensembl chr 5:47,771,547...47,837,971

G

potassium inwardly rectifying channel subfamily J member 1

NCBI chr 5:5,783,242...5,813,961
Ensembl chr 5:5,809,118...5,812,794

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:11317351 PMID:11854170 PMID:12039988 PMID:18503012 PMID:20507940 More...

NCBI chr 1:116,784,756...116,792,138
Ensembl chr 1:116,784,745...116,792,709

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23999528 PMID:25741868 PMID:26553438 PMID:28492532 PMID:29534211 More...

NCBI chr24:46,315,008...46,351,279

G

laminin subunit beta 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:2206901 PMID:9536098 PMID:15367484 PMID:17576681 PMID:18672223 More...

NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523

G

lipase C, hepatic type

protein, mRNA:reduced expression:liver (rat)

NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More...

NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530

G

60S ribosomal protein L36a-like

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 4:62,275,030...62,275,422

G

serotransferrin

CTD Direct Evidence: marker/mechanism

NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845

G

mitochondrial inner membrane protein MPV17

OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861

NCBI chr17:21,280,523...21,290,967
Ensembl chr17:21,281,361...21,290,339

G

matrix remodeling associated 5

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr X:1,750,899...1,777,719
Ensembl chr X:1,752,072...1,778,045

G

myosin heavy chain 9

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

G

myosin IE

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29127259

NCBI chr30:24,067,622...24,265,567
Ensembl chr30:24,068,283...24,265,311

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:33,297,660...33,374,025
Ensembl chr23:33,297,756...33,372,534

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,584,351...37,734,388
Ensembl chr10:37,585,565...37,732,994

G

NFKB inhibitor alpha

exacerbates

protein:decreased expression:peripheral blood mononuclear cell (human)

NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433

G

NOC3 like DNA replication regulator

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr28:8,484,224...8,519,840
Ensembl chr28:8,484,226...8,519,692

G

nitric oxide synthase 1

protein:decreased expression:kidney

NCBI chr26:13,787,341...13,895,176
Ensembl chr26:13,786,309...13,962,332

G

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:2656023 PMID:9536098 PMID:9660941 PMID:9915943 PMID:10972661 More...

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

NPHS2 stomatin family member, podocin

treatment

ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11854170 More...

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

nuclear receptor subfamily 3 group C member 1

treatment

NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755

G

nucleoporin 93

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:30655312 More...

NCBI chr 2:59,465,482...59,573,871
Ensembl chr 2:59,465,487...59,574,033

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:11519896 PMID:15966048 PMID:18019379 PMID:21791310 PMID:25741868 More...

NCBI chr15:17,780,474...17,786,452
Ensembl chr15:17,780,476...17,811,173

G

paired box 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094

G

decaprenyl diphosphate synthase subunit 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:17186472 PMID:17374725 PMID:19096106 PMID:20689595 PMID:23816342 More...

NCBI chr12:64,371,548...64,620,652
Ensembl chr12:64,338,950...64,620,367

G

phospholipase A2 group VII

protein:increased activity:plasma

PMID:8692015 PMID:15292677

RGD:7248795 RGD:7257517

NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114

G

phospholipase C epsilon 1

onset

DNA:mutations: :
ClinVar Annotator: match by term: Nephrotic syndrome

PMID:17086182 PMID:25741868 PMID:28492532 PMID:29127259

NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770

G

PPARG coactivator 1 alpha

protein:decreased expression:kidney cortex (rat)

NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269

G

prostaglandin-endoperoxide synthase 2

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

renin

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

RUNX family transcription factor 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785

G

sodium channel epithelial 1 subunit alpha

NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980

G

sodium channel epithelial 1 subunit beta

NCBI chr 6:22,439,643...22,481,349
Ensembl chr 6:22,439,643...22,481,349

G

serpin family C member 1

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:7532794 PMID:8979144 PMID:11304663

RGD:11035294 RGD:11038563

NCBI chr 7:25,322,668...25,333,022
Ensembl chr 7:25,316,129...25,332,987

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301

G

sphingosine-1-phosphate lyase 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23232022 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28492532 More...

NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155

G

solute carrier family 35 member F1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:58,010,752...58,397,987
Ensembl chr 1:58,010,752...58,397,987

G

SMAD family member 1

NCBI chr15:44,093,491...44,171,177
Ensembl chr15:44,095,497...44,170,098

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248

G

sterol O-acyltransferase 2

mRNA, protein:increased expression:liver

NCBI chr27:2,053,063...2,062,773
Ensembl chr27:2,053,067...2,062,329

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706

G

synaptopodin

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741916 PMID:33615071

NCBI chr 4:58,501,361...58,549,340
Ensembl chr 4:58,497,734...58,550,438

G

TBC1 domain family member 8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:31732614

NCBI chr X:80,360,978...80,427,762
Ensembl chr X:80,360,760...80,435,642

G

tissue factor pathway inhibitor

protein:increased expression:plasma

NCBI chr36:29,457,131...29,546,455
Ensembl chr36:29,459,371...29,511,310

G

TNF receptor superfamily member 11b

protein:decreased expression:serum

NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444

G

tensin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29773874

NCBI chr27:2,096,287...2,112,626
Ensembl chr27:2,096,616...2,113,619

G

TP53RK binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28805828 PMID:29127259

NCBI chr17:49,271,845...49,278,794
Ensembl chr17:49,245,496...49,278,767

G

transient receptor potential cation channel subfamily C member 6

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:15924139 PMID:19129465 PMID:21734084 PMID:23645677 PMID:25741868 More...

NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More...

NCBI chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674

G

very low density lipoprotein receptor

protein:decreased expression:heart, skeletal muscle (rat)

NCBI chr 1:91,242,010...91,277,030
Ensembl chr 1:91,241,509...91,272,495

G

WD repeat domain 73

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:16217710 PMID:25741868 PMID:25873735 PMID:26123727 PMID:27001912 More...

NCBI chr 3:53,914,048...53,927,130
Ensembl chr 3:53,914,619...53,927,034

G

WT1 transcription factor

ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

nephrotic syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 6

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:12384774 PMID:25741868 PMID:28492532

NCBI chr 6:27,800,060...27,849,170
Ensembl chr 6:27,798,835...27,848,689

G

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 PMID:22966035 More...

NCBI chr 6:36,369,246...36,380,963

G

Rho GDP dissociation inhibitor alpha

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr 9:419,350...422,284
Ensembl chr 9:419,413...423,252

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome

PMID:11805166 PMID:12464671 PMID:12707396 PMID:14978175 PMID:15253708 More...

NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition

PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 PMID:12039988 More...

NCBI chr 1:116,784,756...116,792,138
Ensembl chr 1:116,784,745...116,792,709

G

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition

PMID:2656023 PMID:9536098 PMID:9543371 PMID:9660941 PMID:9915943 More...

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11729243 PMID:11805166 PMID:11805168 More...

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

protein S

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:11127877 PMID:11858485 PMID:20880255 PMID:24014240 PMID:24055113 More...

NCBI chr33:1,628,074...1,691,441
Ensembl chr33:1,628,105...1,692,058

G

serine peptidase inhibitor Kazal type 1

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1

PMID:10691414 PMID:10835640 PMID:11950815 PMID:12011155 PMID:12187509 More...

NCBI chr 2:42,112,015...42,120,738
Ensembl chr 2:42,112,016...42,120,706

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 More...

NCBI chr36:11,009,362...11,086,586
Ensembl chr36:11,010,296...11,086,674

G

WT1 transcription factor

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:22099579 PMID:25741868 PMID:27719739

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

nephrotic syndrome type 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epithelial membrane protein 2

ClinVar Annotator: match by term: Nephrotic syndrome, type 10

PMID:24814193 PMID:25741868 PMID:28492532

NCBI chr 6:32,026,908...32,060,447
Ensembl chr 6:32,026,916...32,057,693

nephrotic syndrome type 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 107

ClinVar Annotator: match by term: Nephrotic syndrome, type 11

PMID:25741868 PMID:26411495 PMID:28492532 PMID:30179222

NCBI chr10:10,838,881...10,887,347
Ensembl chr10:10,838,944...10,887,197

nephrotic syndrome type 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 93

ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12

PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864

NCBI chr 2:59,465,482...59,573,871
Ensembl chr 2:59,465,487...59,574,033

nephrotic syndrome type 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 205

ClinVar Annotator: match by term: Nephrotic syndrome, type 13

PMID:25741868 PMID:26878725 PMID:28492532

NCBI chr16:12,609,392...12,688,871
Ensembl chr16:12,609,403...12,689,136

nephrotic syndrome type 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sphingosine-1-phosphate lyase 1

ClinVar Annotator: match by term: Nephrotic syndrome 14

PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More...

NCBI chr 4:21,666,264...21,717,476
Ensembl chr 4:21,660,939...21,715,155

nephrotic syndrome type 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

ClinVar Annotator: match by term: Nephrotic syndrome 15

PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28492532 More...

NCBI chr18:17,973,058...19,098,785
Ensembl chr18:17,918,928...18,930,059

nephrotic syndrome type 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KN motif and ankyrin repeat domains 2

ClinVar Annotator: match by term: Nephrotic syndrome 16

PMID:25741868 PMID:25961457 PMID:28492532

NCBI chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320

nephrotic syndrome type 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

golgi associated, gamma adaptin ear containing, ARF binding protein 3

ClinVar Annotator: match by term: Nephrotic syndrome, type 17

PMID:25741868 PMID:30179222

NCBI chr 9:5,235,377...5,250,982
Ensembl chr 9:5,235,025...5,249,361

G

nucleoporin 85

ClinVar Annotator: match by term: Nephrotic syndrome, type 17

PMID:25741868 PMID:28492532 PMID:30179222

NCBI chr 9:5,251,387...5,298,096
Ensembl chr 9:5,251,419...5,285,338

nephrotic syndrome type 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 133

ClinVar Annotator: match by term: Nephrotic syndrome, type 18

PMID:25741868 PMID:28492532 PMID:30179222

NCBI chr 4:9,751,902...9,805,796
Ensembl chr 4:9,751,986...9,805,033

nephrotic syndrome type 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 160

ClinVar Annotator: match by term: NUP160-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 19

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30179222

NCBI chr18:41,859,697...41,902,677
Ensembl chr18:41,855,670...41,902,247

nephrotic syndrome type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A5

protein:increased expression:urine

NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378

G

advillin

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:25741868 PMID:29058690

NCBI chr10:1,855,598...1,875,156
Ensembl chr10:1,856,162...1,872,303

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:8589695 PMID:9536098 PMID:10742096 PMID:11805166 PMID:12464671 More...

NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:25741868 PMID:28492532

NCBI chr25:39,849,680...39,976,035
Ensembl chr25:39,854,388...39,976,189

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

crumbs cell polarity complex component 2

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:25557779 PMID:25741868 PMID:27004616 PMID:27942854 PMID:28492532 More...

NCBI chr 9:59,427,661...59,450,436
Ensembl chr 9:59,427,569...59,450,434

G

EEF1A lysine methyltransferase 3

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:25741868 PMID:29058690

NCBI chr10:1,833,759...1,842,646

G

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome

PMID:15086927 PMID:15968559 PMID:17211152 PMID:25741868 PMID:28476686 More...

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:1523708 PMID:8589695 PMID:8606597 PMID:9536098 PMID:10742096 More...

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

nuclear receptor subfamily 3 group C member 1

mRNA:alternative form:blood, mononuclear cell

NCBI chr 2:38,124,568...38,242,510
Ensembl chr 2:38,123,190...38,240,755

G

nucleoporin 205

CTD Direct Evidence: marker/mechanism

NCBI chr16:12,609,392...12,688,871
Ensembl chr16:12,609,403...12,689,136

G

nucleoporin 93

CTD Direct Evidence: marker/mechanism

NCBI chr 2:59,465,482...59,573,871
Ensembl chr 2:59,465,487...59,574,033

G

paired box 2

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

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

NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094

G

phospholipase A2 group VII

disease_progression

NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114

G

phospholipase C epsilon 1

DNA:mutations: :

NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

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

NCBI chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248

G

transient receptor potential cation channel subfamily C member 6

DNA:missense mutations, SNPs:exon, intron:multiple

NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723

G

WT1 transcription factor

ClinVar Annotator: match by term: Familial idiopathic steroid-resistant nephrotic syndrome | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

G

exportin 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:11,983,071...12,034,441
Ensembl chr12:11,983,646...12,034,688

nephrotic syndrome type 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBC1 domain family member 8B

ClinVar Annotator: match by term: Nephrotic syndrome, type 20

PMID:25741868 PMID:28492532 PMID:30661770 PMID:31732614

NCBI chr X:80,360,978...80,427,762
Ensembl chr X:80,360,760...80,435,642

nephrotic syndrome type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advillin

ClinVar Annotator: match by term: Nephrotic syndrome, type 21

PMID:25741868 PMID:29058690

NCBI chr10:1,855,598...1,875,156
Ensembl chr10:1,856,162...1,872,303

G

EEF1A lysine methyltransferase 3

ClinVar Annotator: match by term: Nephrotic syndrome, type 21

PMID:25741868 PMID:29058690

NCBI chr10:1,833,759...1,842,646

nephrotic syndrome type 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nitric oxide synthase 1 adaptor protein

ClinVar Annotator: match by term: Nephrotic syndrome, type 22

PMID:25741868 PMID:28492532 PMID:33523862

NCBI chr38:20,353,341...20,614,684

nephrotic syndrome type 23

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kirre like nephrin family adhesion molecule 1

ClinVar Annotator: match by term: KIRREL1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 23

PMID:25741868 PMID:31472902

NCBI chr38:23,530,930...23,593,957
Ensembl chr38:23,530,885...23,594,236

Nephrotic Syndrome Type 24

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dishevelled associated activator of morphogenesis 2

ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 24

PMID:25741868 PMID:28492532 PMID:33232676

NCBI chr12:8,686,653...8,801,903
Ensembl chr12:8,748,655...8,799,059

Nephrotic Syndrome Type 26

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

laminin subunit alpha 5

ClinVar Annotator: match by term: LAMA5-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 26

PMID:25741868 PMID:28492532 PMID:29534211 PMID:29706646 PMID:29764427 More...

NCBI chr24:46,315,008...46,351,279

nephrotic syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NOC3 like DNA replication regulator

ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition

PMID:17086182 PMID:18975016 PMID:20591883 PMID:23595123 PMID:24130771 More...

NCBI chr28:8,484,224...8,519,840
Ensembl chr28:8,484,226...8,519,692

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition

PMID:17086182 PMID:18709391 PMID:18975016 PMID:20507940 PMID:20591883 More...

NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770

nephrotic syndrome type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WT1 transcription factor

ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Nephrotic syndrome, type 4

PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More...

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

nephrotic syndrome type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

laminin subunit beta 2

ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities | ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities

PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More...

NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523

G

protein phosphatase 2 regulatory subunit B'delta

ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities

PMID:25741868 PMID:30676711 PMID:32295525

NCBI chr12:11,519,194...11,540,658
Ensembl chr12:11,519,092...11,540,109

G

retinoid isomerohydrolase RPE65

ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities

PMID:20811047 PMID:25741868 PMID:28130426 PMID:28492532 PMID:29332120 More...

NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131

nephrotic syndrome type 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase receptor type O

ClinVar Annotator: match by term: Nephrotic syndrome, type 6

PMID:21722858 PMID:25741868 PMID:28492532

NCBI chr27:31,082,334...31,322,024
Ensembl chr27:31,084,544...31,322,022

nephrotic syndrome type 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diacylglycerol kinase epsilon

ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 7 | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: Nephrotic syndrome, type 7

PMID:23274426 PMID:23542698 PMID:24747643 PMID:25135762 PMID:25349199 More...

NCBI chr 9:31,666,727...31,690,878
Ensembl chr 9:31,667,101...31,685,464

nephrotic syndrome type 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GDP dissociation inhibitor alpha

ClinVar Annotator: match by term: Nephrotic syndrome, type 8

PMID:23867502 PMID:25741868 PMID:25741905 PMID:28492532

NCBI chr 9:419,350...422,284
Ensembl chr 9:419,413...423,252

nephrotic syndrome type 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coenzyme Q8B

ClinVar Annotator: match by term: Nephrotic syndrome, type 9

PMID:9536098 PMID:17576681 PMID:24270420 PMID:25741868 PMID:25741916 More...

NCBI chr 1:113,056,369...113,075,773
Ensembl chr 1:113,057,141...113,102,074

Nocturnal Enuresis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dopamine receptor D4

DNA:duplication, polymorphisms, haplotype:promoter:g.-1480_-1240dup, g.-616C>G, g.-521C>T (human)

Oligoanuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 1 receptor antagonist

associated with Hemolytic-Uremic Syndrome; protein:increased expression:blood (human)

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

Oliguria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arginine vasopressin receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr X:121,751,606...121,754,771
Ensembl chr X:121,752,027...121,754,771

G

hemoglobin subunit epsilon-2

CTD Direct Evidence: marker/mechanism

NCBI chr21:28,193,163...28,194,746

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

G

urate oxidase

CTD Direct Evidence: therapeutic

NCBI chr 6:63,482,384...63,513,538
Ensembl chr 6:63,436,236...63,513,478

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased processing:erythrocyte

NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761

G

complement C5

ClinVar Annotator: match by term: Eculizumab, poor response to

PMID:24521109 PMID:25741868 PMID:28492532

NCBI chr11:73,953,727...74,029,919
Ensembl chr11:73,953,727...74,029,851

G

C-X-C motif chemokine receptor 4

treatment

NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740

G

major histocompatibility complex, class II, DQ beta 1

DNA:polymorphism, haplotype

NCBI chr12:2,305,307...2,307,711

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria

PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 More...

NCBI chr X:11,570,327...11,583,401

G

phosphatidylinositol glycan anchor biosynthesis class T

CTD Direct Evidence: marker/mechanism

NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168

Paroxysmal Nocturnal Hemoglobinuria 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

PMID:25741868 PMID:28492532 PMID:31704190 PMID:32452540 PMID:34355501

NCBI chr X:11,570,327...11,583,401

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168

Paroxysmal Nocturnal Hemoglobinuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2

PMID:23733340 PMID:25741868 PMID:28492532

NCBI chr24:32,706,476...32,715,169
Ensembl chr24:32,706,028...32,715,168

Phosphaturia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

parathyroid hormone

protein:decreased expression:serum (rat)

NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967

Pierson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminomethyltransferase

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506

G

chromosome 20 C3orf62 homolog

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754

G

chromosome 20 C3orf84 homolog

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981

G

coiled-coil domain containing 71

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416

G

dystroglycan 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Pierson syndrome

PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More...

NCBI chr 8:63,970,245...64,029,438
Ensembl chr 8:63,972,027...64,019,879

G

glutathione peroxidase 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260

G

interactor of HORMAD1 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756

G

kelch domain containing 8B

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552

G

laminin subunit beta 2

ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome

PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More...

NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523

G

nicolin 1, tubulin polyglutamylase complex subunit

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354

G

ras homolog family member A

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215

G

T cell leukemia translocation altered

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200

G

tensin 2

OMIM:609049

NCBI chr27:2,096,287...2,112,626
Ensembl chr27:2,096,616...2,113,619

G

ubiquitin specific peptidase 4

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420

Polyuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aquaporin 2

protein:decreased expression:total kidney membrane fraction (rat)

NCBI chr27:4,743,127...4,750,907
Ensembl chr27:4,743,127...4,750,907

G

arginine vasopressin

CTD Direct Evidence: therapeutic

PMID:10919858 PMID:11012637

NCBI chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883

G

leptin

CTD Direct Evidence: marker/mechanism

NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395

G

oxytocin/neurophysin I prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170

G

protein kinase C alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 9:13,638,106...13,879,571
Ensembl chr 9:13,644,010...13,967,630

G

prostaglandin E synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:54,071,472...54,082,232
Ensembl chr 9:54,071,472...54,082,232

proteinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

severity
treatment

associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human)
associated with Acute Kidney Injury

PMID:10193250 PMID:10844603

RGD:11038828 RGD:12879396

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

adducin 2

NCBI chr10:69,056,367...69,098,775
Ensembl chr10:69,057,267...69,098,521

G

adducin 3

NCBI chr28:21,402,068...21,527,006
Ensembl chr28:21,403,680...21,525,063

G

advanced glycosylation end-product specific receptor

susceptibility

associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human)

NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129

G

angiotensinogen

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:464098 PMID:2046802 PMID:9259580 PMID:12937228 PMID:17890855 More...

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

angiotensin II receptor type 1

CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic

PMID:17021606 PMID:20042458

NCBI chr23:43,569,658...43,617,113
Ensembl chr23:43,614,035...43,616,238

G

albumin

associated with hypertension
CTD Direct Evidence: marker/mechanism

PMID:839733 PMID:1011057 PMID:7288527 PMID:7297036 PMID:8677191 More...

NCBI chr13:62,133,747...62,169,349
Ensembl chr13:62,053,814...62,294,709

G

arachidonate 5-lipoxygenase activating protein

CTD Direct Evidence: marker/mechanism

NCBI chr25:9,320,868...9,351,056
Ensembl chr25:9,320,864...9,351,836

G

ankyrin repeat and sterile alpha motif domain containing 6

NCBI chr11:55,845,695...55,893,253
Ensembl chr11:55,847,808...55,893,257

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Proteinuria

NCBI chr 7:20,375,973...20,480,886
Ensembl chr 7:20,383,249...20,480,823

G

beta-2-microglobulin

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

PMID:17634209 PMID:33857584

NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997

G

B9 domain containing 2

ameliorates

CTD Direct Evidence: marker/mechanism

PMID:12937228 PMID:23249995

NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885

G

complement C6

associated with Glomerulonephritis

NCBI chr 4:68,223,626...68,318,773
Ensembl chr 4:68,253,255...68,318,252

G

CD55 molecule

NCBI chr 7:6,361,037...6,396,063
Ensembl chr 7:6,360,964...6,386,226

G

CD8 subunit alpha

associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse)

NCBI chr17:38,396,022...38,400,508
Ensembl chr17:38,369,414...38,400,508

G

complement factor H

protein:altered expression:kidney:

NCBI chr38:2,878,677...2,956,226

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:42,705,789...42,860,701
Ensembl chr X:42,704,627...42,853,812

G

chloride voltage-gated channel K

ClinVar Annotator: match by term: Proteinuria

PMID:24830959 PMID:25741868 PMID:26920127 PMID:28381550 PMID:28492532 More...

NCBI chr 2:81,612,382...81,627,742

G

clusterin

treatment

NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532 PMID:30586318

NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782

G

collagen type IV alpha 5 chain

onset

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:34675305

NCBI chr X:81,982,119...82,248,428
Ensembl chr X:81,982,275...82,247,679

G

cathepsin B

CTD Direct Evidence: marker/mechanism

NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801

G

cathepsin L family member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:72,215,774...72,219,093

G

C-X-C motif chemokine ligand 10

NCBI chr32:598,406...599,925
Ensembl chr32:597,987...599,979

G

cytochrome b-245 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:32,533,365...32,568,149
Ensembl chr X:32,533,320...32,568,217

G

MHC class I DLA-88

CTD Direct Evidence: marker/mechanism

PMID:3459889 PMID:3487119 PMID:6376799 PMID:6770269

NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690

G

deoxyribonuclease 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827

G

dipeptidyl peptidase 4

CTD Direct Evidence: marker/mechanism

NCBI chr36:7,398,713...7,472,554
Ensembl chr36:7,399,643...7,454,204

G

coagulation factor VII

associated with Diabetes Mellitus; protein:increased activity:plasma (human)

NCBI chr22:60,572,459...60,582,743
Ensembl chr22:60,571,822...60,597,024

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

PMID:26590112 PMID:33632240 PMID:36999444

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

glucuronidase beta

CTD Direct Evidence: marker/mechanism

NCBI chr 6:730,345...743,916
Ensembl chr 6:730,358...779,424

G

hepatitis A virus cellular receptor 1

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

PMID:16467126 PMID:19225054

NCBI chr 4:53,012,223...53,066,611
Ensembl chr 4:53,046,970...53,128,952
Ensembl chr 4:53,046,970...53,128,952

G

hypoxia inducible factor 1 subunit alpha

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

NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692

G

MHC class II DLA DRB1 beta chain

CTD Direct Evidence: marker/mechanism

PMID:6420562 PMID:11436868

NCBI chr12:2,151,409...2,164,564

G

HR lysine demethylase and nuclear receptor corepressor

NCBI chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545

G

intercellular adhesion molecule 1

associated with Hypertension;mRNA, protein:increased expression:kidney

NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914

G

interferon beta 1

ameliorates

associated with nephritis, Puromycin Aminonucleoside Nephrosis

NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855

G

interferon gamma

CTD Direct Evidence: marker/mechanism

PMID:3091246 PMID:8289579

NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698

G

interleukin 1 receptor antagonist

associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
CTD Direct Evidence: therapeutic

PMID:9370186 PMID:12138282

NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329

G

interleukin 6

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human)

NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519

G

inverted formin 2

ClinVar Annotator: match by term: Proteinuria

PMID:20023659 PMID:20803156 PMID:21258034 PMID:23014460 PMID:23515051 More...

NCBI chr 8:72,275,209...72,284,991

G

laminin subunit beta 2

NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523

G

leptin

CTD Direct Evidence: marker/mechanism

NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395

G

leptin receptor

sexual_dimorphism

compared to BN
CTD Direct Evidence: marker/mechanism
compared to SS/JrHsdMcwi

PMID:20159938 PMID:27465994 PMID:36066211

RGD:12911217 RGD:7365117

NCBI chr 5:44,684,118...44,775,626
Ensembl chr 5:44,688,109...44,775,636

G

LIM homeobox transcription factor 1 beta

CTD Direct Evidence: marker/mechanism

PMID:19147669 PMID:20199424

NCBI chr 9:56,542,844...56,625,609
Ensembl chr 9:56,542,826...56,625,530

G

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase

NCBI chr19:37,041,215...37,334,585
Ensembl chr19:37,087,247...37,329,723

G

matrix metallopeptidase 2

ameliorates

associated with Experimental Diabetes Mellitus;

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

mitochondrial inner membrane protein MPV17

CTD Direct Evidence: marker/mechanism

NCBI chr17:21,280,523...21,290,967
Ensembl chr17:21,281,361...21,290,339

G

mucin 16, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr20:51,790,036...51,876,801

G

myosin heavy chain 9

disease_progression

associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human)
ClinVar Annotator: match by term: Proteinuria

PMID:20200500 PMID:25741868 PMID:28492532

NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953

G

neutrophil cytosolic factor 2

ameliorates

compared to wild-type littermates

NCBI chr 7:16,914,629...16,946,370
Ensembl chr 7:16,904,031...16,945,372

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr23:33,297,660...33,374,025
Ensembl chr23:33,297,756...33,372,534

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:37,584,351...37,734,388
Ensembl chr10:37,585,565...37,732,994

G

NCK associated protein 5

NCBI chr19:35,631,900...36,588,124
Ensembl chr19:35,632,939...36,449,082

G

NPHS1 adhesion molecule, nephrin

ClinVar Annotator: match by term: Proteinuria

PMID:10652016 PMID:11317351 PMID:12324903 PMID:12631336 PMID:19812541 More...

NCBI chr 1:116,794,891...116,814,418
Ensembl chr 1:116,794,433...116,813,546

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Proteinuria

PMID:11805166 PMID:11854170 PMID:12464671 PMID:14675423 PMID:14978175 More...

NCBI chr 7:20,347,526...20,375,975
Ensembl chr 7:20,354,134...20,374,020

G

natriuretic peptide B

NCBI chr 2:84,395,844...84,397,473

G

nuclear receptor subfamily 4 group A member 1

CTD Direct Evidence: marker/mechanism

NCBI chr27:2,947,729...2,965,045
Ensembl chr27:2,891,053...2,955,655

G

optineurin

associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat)

NCBI chr 2:23,356,471...23,390,569
Ensembl chr 2:23,357,237...23,392,511

G

p21 (RAC1) activated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr21:21,341,530...21,409,535
Ensembl chr21:21,265,484...21,408,416

G

p21 (RAC1) activated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr33:29,774,645...29,863,661
Ensembl chr33:29,774,593...29,987,478

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Proteinuria

NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503

G

phospholipase A2 group VII

DNA:mutation: :994G>T(human)

NCBI chr12:14,866,229...14,908,230
Ensembl chr12:14,866,229...14,908,114

G

phospholipase C epsilon 1

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chr28:8,209,707...8,484,427
Ensembl chr28:8,210,058...8,481,770

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440

G

paraoxonase 1

associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human)

NCBI chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:19,934,020...20,006,096
Ensembl chr10:19,934,165...20,006,146

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903

G

RAB38, member RAS oncogene family

NCBI chr21:11,769,924...11,823,546
Ensembl chr21:11,769,351...11,822,815

G

renin

CTD Direct Evidence: marker/mechanism

PMID:464098 PMID:2046802

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

ras homolog family member A

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215

G

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr27:38,612,206...38,638,212
Ensembl chr27:38,612,194...38,638,980

G

syndecan 1

mRNA, protein:increased expression:glomerulus

NCBI chr17:15,220,906...15,243,974
Ensembl chr17:15,222,094...15,243,890

G

serpin family A member 1

protein:increased expression:urine

NCBI chr 8:63,388,498...63,400,377
Ensembl chr 8:63,376,945...63,398,435

G

solute carrier family 9 member A1

NCBI chr 2:73,054,742...73,103,364
Ensembl chr 2:73,054,742...73,103,364

G

small nuclear ribonucleoprotein D1 polypeptide

associated with Lupus Erythematosus, Systemic in a mouse model

NCBI chr 7:66,407,313...66,421,193
Ensembl chr 7:66,407,313...66,421,194

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815

G

sortilin related VPS10 domain containing receptor 1

associated with hypertension

NCBI chr28:18,619,015...18,933,785
Ensembl chr28:18,622,234...18,797,249

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069

G

toll like receptor 9

associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human)

PMID:22787315 PMID:23467932

RGD:7245987 RGD:7245989

NCBI chr20:37,529,322...37,547,117
Ensembl chr20:37,542,340...37,547,114
Ensembl chr20:37,542,340...37,547,114

G

transmembrane protein 163

NCBI chr19:37,335,608...37,744,291
Ensembl chr19:37,336,598...37,562,509

G

transmembrane protein 67

compared to RGD:14995941

NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559

G

transient receptor potential cation channel subfamily C member 6

mRNA:increased expression:glomerular podocytes (rat)

PMID:23385000 PMID:31784544

RGD:155882534 RGD:7247440

NCBI chr 5:29,897,378...30,007,885
Ensembl chr 5:29,897,210...30,007,723

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965

G

vitronectin

associated with Mesangial Proliferative Glomerulonephritis

NCBI chr 9:42,617,860...42,620,825
Ensembl chr 9:42,614,941...42,630,864

G

WT1 transcription factor

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000

G

zinc finger E-box binding homeobox 2

mRNA:increased expression:glomerular podocytes (rat)

NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122

Puromycin Aminonucleoside Nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358

G

aminocarboxymuconate semialdehyde decarboxylase

NCBI chr19:37,658,999...37,725,426
Ensembl chr19:37,659,226...37,725,172

G

actin related protein 2

mRNA, protein:increased expression:cortex of kidney (rat)

NCBI chr10:64,696,068...64,733,027
Ensembl chr10:64,696,111...64,730,553

G

angiotensinogen

NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880

G

apolipoprotein E

NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440

G

BAR/IMD domain containing adaptor protein 2

protein:increased expression:glomerular visceral epithelial cell

NCBI chr 9:923,519...992,254
Ensembl chr 9:923,493...981,923

G

Fas cell surface death receptor

protein:increased expression:renal glomerulus, renal interstitium, renal tubule

NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321

G

matrix metallopeptidase 2

mRNA:increased expression:renal glomerulus (rat)

NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113

G

p21 (RAC1) activated kinase 2

NCBI chr33:29,774,645...29,863,661
Ensembl chr33:29,774,593...29,987,478

G

renin

NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012

G

xanthine dehydrogenase

treatment

NCBI chr17:24,900,708...24,960,748
Ensembl chr17:24,901,447...24,971,935

renal glycosuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

heterogeneous nuclear ribonucleoprotein F

OMIM:233100

NCBI chr28:3,651,685...3,672,320
Ensembl chr28:3,670,455...3,671,699

G

RUS family member 1

ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related condition

PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 PMID:25741868 More...

NCBI chr 6:16,752,901...16,767,269
Ensembl chr 6:16,752,608...16,765,982

G

solute carrier family 5 member 2

ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related condition

PMID:12436245 PMID:14569097 PMID:14614622 PMID:15110322 PMID:18622023 More...

NCBI chr 6:16,765,935...16,772,145
Ensembl chr 6:16,765,938...16,772,137

Schimke immuno-osseous dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1

ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia

PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More...

NCBI chr37:23,364,941...23,425,206
Ensembl chr37:23,367,220...23,419,248

Urinary Incontinence

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor alpha 1A

NCBI chr25:30,690,959...30,801,484
Ensembl chr25:30,693,571...30,801,486

G

5-hydroxytryptamine receptor 2A

DNA:SNP: :102T>C (rs6313)

NCBI chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037

G

mitogen-activated protein kinase 1

NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998

Urinary Incontinence, Stress

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin

NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325

G

lysyl oxidase like 1

DNA:SNPs, haplotype:exon, intron:rs1048661, rs2165241 (human)

NCBI chr30:37,191,201...37,204,163
Ensembl chr30:37,183,128...37,204,058

Urinary Retention

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383

G

myelin basic protein

associated with Meningitis;protein:increased expression:cerebrospinal fluid:

NCBI chr 1:2,841,801...2,952,553
Ensembl chr 1:2,846,589...2,951,860

Term paths to the root

Path 1
Term	Annotations
disease	17773
disease of anatomical entity	15145
Urogenital Diseases	4734
urinary system disease	2402
Urination Disorders	417
Enuresis +	1
Fowler Christmas Chapple Syndrome	0
Glycosuria +	5
Hematuria +	16
Oliguria +	5
Phosphaturia	1
Polyuria +	6
Urinary Incontinence +	6
Urinary Retention	2
anuria +	11
proteinuria +	380

paths to the root