Urological Manifestations - 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:	Urological Manifestations	go back to main search page
Accession:	DOID:9007629	browse the term
Definition:	Clinical disturbances of the urinary system.
Synonyms:	exact_synonym:	Urological Manifestation
	primary_id:	MESH:D020924

show annotations for term's descendants Sort by:
Rat (627) Mouse (426) Human (11702) Chinchilla (388) Bonobo (413) Dog (414) Squirrel (390) Pig (407) Green Monkey (406) Naked Mole-rat (389) All
Genes (442) QTL (96) Strains (89)

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)
associated with Diabetic Nephropathies
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:23733546 PMID:1336356 PMID:16902320

RGD:7829770, RGD:12879427

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

adrenomedullin

associated with Hypertension

RGD

NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654

G

advanced glycosylation end product-specific receptor

treatment

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

RGD

PMID:21607631 PMID:21796806 PMID:20627935

RGD:7243944, RGD:7244184, RGD:7244135

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

PMID:12414515 PMID:18679781 PMID:21896938 PMID:15118671

NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977

G

aldo-keto reductase family 1 member B1

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

RGD

NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157

G

albumin

associated with Diabetes Mellitus, Insulin-Dependent
associated with hypertension

RGD

PMID:19414946 PMID:15102963

RGD:2306884, RGD:1601157

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836

G

arachidonate 12-lipoxygenase, 12S type

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

RGD

NCBI chr10:55,456,923...55,469,239
Ensembl chr10:54,958,271...54,970,542

G

beta-2 microglobulin

associated with HIV infections;protein:increased expression:urine

RGD

NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766

G

caspase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:10,746,338...10,882,295
Ensembl chr 8:2,587,831...2,597,383

G

calcium-sensing receptor

associated with Uremia

RGD

NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811

G

C-C motif chemokine ligand 4

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

RGD

NCBI chr10:68,963,893...68,965,728
Ensembl chr10:68,452,052...68,468,231

G

CD38 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr14:71,384,532...71,424,794
Ensembl chr14:67,172,063...67,211,986

G

class II, major histocompatibility complex, transactivator

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

RGD

NCBI chr10:5,646,854...5,694,393
Ensembl chr10:5,140,178...5,187,440

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:104,368,336...104,427,119
Ensembl chr 2:102,439,624...102,498,075

G

C-reactive protein

severity

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

RGD

PMID:20710104 PMID:20016210

RGD:6907441, RGD:6909147

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 1

treatment

associated with Hypercholesterolemia and Diabetes Mellitus, Experimental

RGD

NCBI chr 2:198,065,400...198,084,774
Ensembl chr 2:195,377,215...195,411,704

G

cystatin C

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

RGD

NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:136,336,920...136,340,822

G

cathepsin B

associated with Hypertension

RGD

NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500

G

cathepsin L

associated with Hypertension

RGD

NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548

G

cytochrome P450, family 11, subfamily b, polypeptide 2

RGD

NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004

G

dopamine receptor D1

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

RGD

NCBI chr17:10,545,488...10,550,029
Ensembl chr17:10,540,558...10,545,002

G

endothelin 1

protein:increased expression:renal papilla (rat)

RGD

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885

G

erythropoietin

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

RGD

NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946

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)

RGD

PMID:8458188 PMID:8250495 PMID:9187410

RGD:2312410, RGD:2312407, RGD:2312406

NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610

G

fibrillin 1

associated with Hypertension

RGD

NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889

G

gamma-glutamyltransferase 1

associated with Diabetes Mellitus; protein:increased activity:serum

RGD

NCBI chr20:13,074,141...13,103,551
Ensembl chr20:13,074,700...13,108,442

G

G protein subunit alpha q

CTD Direct Evidence: marker/mechanism

NCBI chr 1:222,852,453...223,098,754
Ensembl chr 1:213,424,465...213,667,672

G

glypican 5

CTD Direct Evidence: therapeutic

NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282

G

hepatitis A virus cellular receptor 1

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

RGD

NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698

G

insulin-like growth factor 1

susceptibility

RGD

NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 1 beta

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

insulin 2

CTD Direct Evidence: marker/mechanism

PMID:9861226 PMID:29420703

NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775

G

leptin receptor

CTD Direct Evidence: marker/mechanism

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

NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908

G

lipase C, hepatic type

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

RGD

NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:71,509,635...71,635,464

G

LDL receptor related protein 2

RGD

NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:54,189,308...54,346,708

G

microRNA 130a

CTD Direct Evidence: marker/mechanism

NCBI chr 3:90,229,228...90,229,315
Ensembl chr 3:69,822,542...69,822,629

G

microRNA 145

CTD Direct Evidence: marker/mechanism

NCBI chr18:57,369,983...57,370,070
Ensembl chr18:55,099,640...55,099,727

G

microRNA 155

CTD Direct Evidence: marker/mechanism

NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718

G

microRNA 322

CTD Direct Evidence: marker/mechanism

NCBI chr X:137,726,147...137,726,241
Ensembl chr X:132,806,594...132,806,688

G

matrix metallopeptidase 9

onset

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

RGD

NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120

G

methylenetetrahydrofolate reductase

susceptibility

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

RGD

NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797

G

myosin, heavy chain 9

associated with hypertension;DNA:SNPs: :

RGD

NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:109,897,723...109,958,247
Ensembl chr 8:101,018,702...101,079,300

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:53,206,006...53,332,417
Ensembl chr 9:45,714,883...45,840,307

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

nuclear receptor subfamily 4, group A, member 1

compared to FHH

RGD

NCBI chr 7:134,247,153...134,268,044
Ensembl chr 7:132,374,840...132,389,297

G

nuclear receptor subfamily 4, group A, member 1; mutation 1, Medical College of Wisconsin

compared to FHH

RGD

G

podoplanin

RGD

NCBI chr 5:160,884,995...160,919,112
Ensembl chr 5:155,601,691...155,635,656

G

paraoxonase 1

DNA:polymorphisms:promoter, cds (human)

RGD

NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360

G

PPARG coactivator 1 alpha

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

RGD

NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

parathyroid hormone

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

RGD

NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:167,508,598...167,511,530

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 1:192,032,124...192,033,419
Ensembl chr 1:182,601,174...182,602,955

G

RAB38, member RAS oncogene family

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

RGD

PMID:15758045 PMID:23291471

RGD:1357409, RGD:13782139

NCBI chr 1:151,595,153...151,675,492
Ensembl chr 1:142,182,556...142,262,924

G

RAB38, member RAS oncogene family; zinc finger nuclease induced mutant 1, Medical College of Wisconsin

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

RGD

G

recombination activating 1

RGD

NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:87,917,004...87,928,291

G

recombination activating gene 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin

as compare to o.4% NaCl diet

RGD

G

recombination activating gene 1; zinc finger nuclease induced mutant 2, Medical College of Wisconsin

RGD

G

renin

CTD Direct Evidence: marker/mechanism

PMID:12414515 PMID:18679781

NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489

G

resistin

associated with Hypertension;protein:increased expression:blood

RGD

NCBI chr12:6,508,653...6,511,115
Ensembl chr12:1,710,881...1,712,620

G

serpin family E member 1

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

RGD

NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657

G

serpin family F member 1

treatment

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

RGD

NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646

G

SH2B adaptor protein 3

RGD

NCBI chr12:40,391,755...40,414,336
Ensembl chr12:34,731,911...34,753,616

G

SH2B adaptor protein 3; zinc finger nuclease induced mutant 1, Medical College of Wisconsin

RGD

G

SHC adaptor protein 1

ameliorates

RGD

NCBI chr 2:177,135,649...177,147,257
Ensembl chr 2:174,837,930...174,849,536

G

SHC adaptor protein 1; ZFN induced mutant 4, Medical College of Wisconsin

ameliorates

RGD

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162

G

transmembrane protein 63c

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

RGD

NCBI chr 6:106,667,389...106,738,778
Ensembl chr 6:106,672,934...106,736,990

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629

G

transient receptor potential cation channel, subfamily C, member 3

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

RGD

NCBI chr 2:121,409,436...121,487,095
Ensembl chr 2:119,481,400...119,558,855

G

transient receptor potential cation channel, subfamily C, member 5

RGD

NCBI chr X:112,742,828...113,027,638
Ensembl chr X:107,939,131...108,230,991

G

transient receptor potential cation channel, subfamily C, member 6

associated with Hypertension;mRNA:decreased expression:kidney cortex

RGD

PMID:21839714 PMID:19887786

RGD:7247445, RGD:7247603

NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism

NCBI chr18:24,723,990...24,728,419
Ensembl chr18:24,449,844...24,453,548

G

vascular cell adhesion molecule 1

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

RGD

NCBI chr 2:206,723,050...206,742,783
Ensembl chr 2:204,038,114...204,057,958

autosomal dominant hypocalcemia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

OMIM:601198
ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 | ClinVar Annotator: match by term: HYPOCALCEMIA, FAMILIAL

MouseDO
OMIM
ClinVar

PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More...

NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811

Autosomal Dominant Hypocalcemia, with Bartter Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome

PMID:11152759 PMID:11701698 PMID:12107202 PMID:12191970 PMID:12241879 More...

NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811

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:157,751,651...157,757,796

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 chr 3:119,521,255...119,522,340
Ensembl chr 3:99,066,857...99,067,942

CD59 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD59b molecule

ClinVar Annotator: match by term: CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy | ClinVar Annotator: match by term: CD59-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847

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:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 More...

NCBI chr17:81,293,619...81,501,694
Ensembl chr17:76,385,060...76,593,231

Congenital Nephrotic Syndrome with or without Ocular Abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 1

protein:decreased activity:kidney (mouse)

RGD

NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:4,658,588...4,679,097

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 chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272

G

cystinosin, lysosomal cystine transporter

ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120

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 chr10:58,316,065...58,340,489
Ensembl chr10:57,817,629...57,841,980

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 chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363

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 chr10:58,349,936...58,375,021
Ensembl chr10:57,851,428...57,876,513

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 chr10:58,382,054...58,413,657
Ensembl chr10:57,883,546...57,913,296

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 chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876

G

laminin subunit beta 2

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse mesangial sclerosis

PMID:15367484 PMID:25741868 PMID:28492532

NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549

G

phospholipase C, epsilon 1

DNA:mutations: :

RGD

NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438

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 chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

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 chr 9:34,592,723...34,674,425
Ensembl chr 9:27,096,297...27,178,090

G

LDL receptor related protein 2

ClinVar Annotator: match by term: DBS/FOAR SYNDROME | 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
OMIM:222448
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:54,189,308...54,346,708

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:8589695 PMID:10742096 PMID:11805166 PMID:14675423 PMID:14978175 More...

NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172

G

kirre like nephrin family adhesion molecule 2

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

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

NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Hereditary nephrotic syndrome

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

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

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

RGD

NCBI chr13:58,350,063...58,352,666
Ensembl chr13:55,798,829...55,802,385

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 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643

G

L antigen family, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632

G

nucleoporin 133

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:28106320 PMID:28492532

NCBI chr19:68,789,065...68,838,692
Ensembl chr19:51,891,629...51,941,239

G

O-sialoglycoprotein endopeptidase

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:17897280 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 More...

NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568

G

Tp53 tumor protein p53 regulating kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328

G

Tp53rk binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:118,342,945...118,357,901

G

WD repeat domain 4

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:30079490

NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,587,207...9,603,581

G

WD repeat domain 73

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25466283 PMID:25741868

NCBI chr 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479

G

zinc finger protein 592

CTD Direct Evidence: marker/mechanism

NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443

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 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230

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 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479

G

zinc finger protein 592

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

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

NCBI chr 1:134,951,286...135,002,443
Ensembl chr 1:134,967,783...135,002,443

Galloway-Mowat Syndrome 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 1 open reading frame 122

ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition

PMID:28492532 PMID:31481669

NCBI chr 5:137,109,093...137,110,130
Ensembl chr 5:137,108,633...137,110,929

G

yrdC N(6)-threonylcarbamoyltransferase domain containing

ClinVar Annotator: match by term: Galloway-Mowat syndrome 10 | ClinVar Annotator: match by term: YRDC-related condition

PMID:28492532 PMID:31481669 PMID:34545459

NCBI chr 5:137,110,244...137,115,127
Ensembl chr 5:137,110,279...137,115,120

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 | ClinVar Annotator: match by term: LAGE3-related condition

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

NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632

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 | ClinVar Annotator: match by term: OSGEP-related condition

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

NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568

Galloway-Mowat syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Tp53 tumor protein p53 regulating kinase A

ClinVar Annotator: match by term: Galloway-Mowat syndrome 4 | ClinVar Annotator: match by term: TP53RK-related condition

PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362 PMID:36873107

NCBI chr 3:154,219,672...154,224,841
Ensembl chr 3:154,220,851...154,224,328

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 chr 4:119,900,374...119,915,374
Ensembl chr 4:118,342,945...118,357,901

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 chr20:9,588,532...9,604,718
Ensembl chr20:9,587,207...9,603,581

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 chr 7:55,239,610...55,285,050
Ensembl chr 7:53,353,743...53,398,370

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 | ClinVar Annotator: match by term: NUP133-related condition

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

NCBI chr19:68,789,065...68,838,692
Ensembl chr19:51,891,629...51,941,239

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 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643

hereditary hypophosphatemic rickets with hypercalciuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

parathyroid hormone

protein:decreased expression:plasma (mouse)

RGD

NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:167,508,598...167,511,530

G

solute carrier family 34 member 1

OMIM:241530
DNA:deletions, snps:multiple (human)

PMID:19570882 PMID:16358215

RGD:7242924, RGD:7242925

NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852

G

solute carrier family 34 member 3

ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 More...

NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:8,044,296...8,049,970

Hypercalciuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium-sensing receptor

no_association
susceptibility

associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human)
DNA:missense mutation: :p.E1011Q (human)
mRNA, protein:increased expression:kidney (rat)
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)

RGD

PMID:19887834 PMID:20602573 PMID:22137721 PMID:12239240

RGD:7205502, RGD:7205445, RGD:7205675, RGD:7205666

NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811

G

claudin 16

ClinVar Annotator: match by term: HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING

NCBI chr11:87,795,106...87,814,396
Ensembl chr11:74,290,298...74,309,588

G

cytochrome P450, family 24, subfamily a, polypeptide 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

PMID:1324751 PMID:3017235

NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664

G

parathyroid hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 1:176,942,901...176,946,034
Ensembl chr 1:167,508,598...167,511,530

G

solute carrier family 34 member 1

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9560283 PMID:21784483

NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852

G

solute carrier family 34 member 3

ClinVar Annotator: match by term: Hypercalciuria

NCBI chr 3:28,442,455...28,447,997
Ensembl chr 3:8,044,296...8,049,970

G

vitamin D receptor

protein:increased expression:kidney, small intestine

RGD

NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677

Hypercalciuria, Absorptive, 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase 10

susceptibility

ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 More...

NCBI chr13:80,280,595...80,366,939
Ensembl chr13:77,768,468...77,833,951

G

DDB1 and CUL4 associated factor 6

ClinVar Annotator: match by term: ADCY10-related condition | ClinVar Annotator: match by term: Familial idiopathic hypercalciuria

PMID:9536098 PMID:11932268 PMID:17576681 PMID:25741868 PMID:26787776 More...

NCBI chr13:80,159,282...80,260,510
Ensembl chr13:77,626,307...77,727,512

Hypercalciuria, Childhood Idiopathic

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Klotho

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080

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 chr17:79,813,106...79,821,254
Ensembl chr17:74,903,177...74,905,811

G

aldo-keto reductase family 1, member C1

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

NCBI chr17:70,720,397...70,747,285
Ensembl chr17:65,810,475...65,837,326

G

aldo-keto reductase family 1, member C2

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

NCBI chr17:70,669,684...70,717,935
Ensembl chr17:65,759,788...65,775,764

G

aldo-keto reductase family 1, member C3

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

NCBI chr17:71,020,884...71,037,779
Ensembl chr17:66,110,963...66,127,873

G

aldo-keto reductase family 1, member E2

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

NCBI chr17:65,735,909...65,750,441
Ensembl chr17:65,735,943...65,750,441

G

ankyrin repeat domain 16

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

NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533

G

ARF like GTPase 5B

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

NCBI chr17:82,864,315...82,888,458
Ensembl chr17:77,955,818...77,979,854

G

ankyrin repeat and SOCS box-containing 13

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

NCBI chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337

G

ATP synthase F1 subunit gamma

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

NCBI chr17:73,333,584...73,355,872
Ensembl chr17:68,423,909...68,608,367

G

BEN domain containing 7

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

NCBI chr17:73,483,212...73,566,221
Ensembl chr17:73,485,282...73,567,559

G

complement C1q like 3

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

NCBI chr17:81,028,418...81,038,244
Ensembl chr17:76,119,447...76,128,530

G

calcium voltage-gated channel auxiliary subunit beta 2

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

NCBI chr17:82,473,097...82,818,564
Ensembl chr17:77,564,460...77,909,106

G

calmodulin-like 3

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

NCBI chr17:71,329,438...71,333,068
Ensembl chr17:66,419,882...66,423,175

G

calmodulin-like 5

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

NCBI chr17:71,304,326...71,305,245

G

calcium/calmodulin-dependent protein kinase ID

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

NCBI chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556

G

coiled-coil domain containing 3

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

NCBI chr17:77,941,148...78,044,820
Ensembl chr17:73,035,045...73,135,337

G

cell division cycle 123

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

NCBI chr17:72,459,270...72,503,316
Ensembl chr17:72,459,282...72,503,316

G

cerebral dopamine neurotrophic factor

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

NCBI chr17:79,623,728...79,637,800
Ensembl chr17:74,713,564...74,728,639

G

CUGBP, Elav-like family member 2

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

NCBI chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333

G

cubilin

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

NCBI chr17:81,293,619...81,501,694
Ensembl chr17:76,385,060...76,593,231

G

DNA cross-link repair 1C

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

NCBI chr17:79,684,988...79,718,399
Ensembl chr17:74,776,935...74,809,186

G

dehydrogenase E1 and transketolase domain containing 1

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

NCBI chr17:77,242,512...77,316,074
Ensembl chr17:72,355,201...72,406,723

G

enoyl CoA hydratase domain containing 3

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

NCBI chr17:76,980,112...77,002,934
Ensembl chr17:72,070,668...72,093,516

G

family with sequence similarity 107, member B

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

NCBI chr17:79,387,795...79,594,165
Ensembl chr17:74,478,608...74,684,989

G

family with sequence similarity 171, member A1

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

NCBI chr17:79,933,742...80,057,495
Ensembl chr17:75,024,575...75,150,255

G

F-box DNA helicase 1

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

NCBI chr17:71,659,351...71,697,431
Ensembl chr17:66,749,534...66,787,590

G

FERM domain containing 4A

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

NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687

G

GATA binding protein 3

ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
OMIM:146255
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391

G

GDP dissociation inhibitor 2

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

NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366

G

3-hydroxyacyl-CoA dehydratase 1

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

NCBI chr17:81,992,284...82,014,676
Ensembl chr17:77,083,740...77,106,073

G

heat shock protein family A (Hsp70) member 14

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

NCBI chr17:74,728,945...74,749,727
Ensembl chr17:74,728,899...74,749,727

G

interleukin 15 receptor subunit alpha

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

NCBI chr17:71,712,141...71,742,072
Ensembl chr17:66,802,334...66,832,278

G

interleukin 2 receptor subunit alpha

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

NCBI chr17:71,759,802...71,808,475
Ensembl chr17:66,849,974...66,898,697

G

integrin subunit alpha 8

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

NCBI chr17:80,213,139...80,410,633
Ensembl chr17:75,304,008...75,501,510

G

inter-alpha-trypsin inhibitor heavy chain 2

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

NCBI chr17:73,285,281...73,321,555
Ensembl chr17:68,375,567...68,411,841

G

inter-alpha-trypsin inhibitor heavy chain 5

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

NCBI chr17:73,161,886...73,261,930
Ensembl chr17:68,252,128...68,352,207

G

Kin17 DNA and RNA binding protein

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

NCBI chr17:68,413,483...68,431,392
Ensembl chr17:68,413,486...68,423,845

G

minichromosome maintenance 10 replication initiation factor

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

NCBI chr17:78,172,049...78,197,644
Ensembl chr17:73,266,095...73,287,364

G

meiosis/spermiogenesis associated 1

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

NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433

G

MINDY lysine 48 deubiquitinase 3

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

NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854

G

neuroepithelial cell transforming 1

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

NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441

G

N-myristoyltransferase 2

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

NCBI chr17:79,826,999...79,874,088
Ensembl chr17:74,917,833...74,961,080

G

NOP2/Sun RNA methyltransferase 6

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

NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006

G

nudix hydrolase 5

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

NCBI chr17:77,345,041...77,368,308
Ensembl chr17:72,435,697...72,459,001

G

oleoyl-ACP hydrolase

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

NCBI chr17:79,786,441...79,811,692
Ensembl chr17:74,877,655...74,902,518

G

optineurin

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

NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251

G

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

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

NCBI chr17:71,893,320...71,974,526
Ensembl chr17:66,983,686...67,063,125

G

phytanoyl-CoA 2-hydroxylase

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

NCBI chr17:78,238,747...78,255,645
Ensembl chr17:73,329,082...73,346,409

G

protein kinase C, theta

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

NCBI chr17:72,156,215...72,288,508
Ensembl chr17:67,246,394...67,378,704

G

proline and serine rich 2

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

NCBI chr17:72,151,961...72,187,524
Ensembl chr17:72,151,872...72,185,825

G

pre-mRNA processing factor 18

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

NCBI chr17:78,539,004...78,570,483
Ensembl chr17:73,630,571...73,690,979

G

phosphotriesterase related

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

NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627

G

RNA binding motif protein 17

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

NCBI chr17:71,846,941...71,863,834
Ensembl chr17:66,937,140...66,954,014

G

ribonuclease P/MRP subunit p38

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

NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431

G

Ras suppressor protein 1

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

NCBI chr17:81,037,848...81,286,127
Ensembl chr17:76,188,812...76,377,454

G

SEC61 translocon subunit alpha 2

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

NCBI chr17:77,316,901...77,354,978
Ensembl chr17:72,407,671...72,434,494

G

selenophosphate synthetase 1

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

NCBI chr17:73,354,435...73,382,803
Ensembl chr17:73,356,530...73,382,593

G

Scm-like with four mbt domains 2

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

NCBI chr17:72,844,037...73,038,599
Ensembl chr17:67,935,904...68,128,781

G

solute carrier family 39 member 12

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

NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353

G

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

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

NCBI chr17:76,740,755...76,884,178
Ensembl chr17:76,745,224...76,884,299

G

signal transducing adaptor molecule

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

NCBI chr17:82,028,779...82,074,717
Ensembl chr17:77,120,158...77,166,467

G

SUV39H2 histone lysine methyltransferase

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

NCBI chr17:79,665,467...79,684,492
Ensembl chr17:74,756,306...74,775,332

G

TATA-box binding protein associated factor 3

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

NCBI chr17:68,455,389...68,608,367
Ensembl chr17:68,423,909...68,608,367

G

transcription activation suppressor family member 2

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

NCBI chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135

G

tRNA aspartic acid methyltransferase 1

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

NCBI chr17:81,510,740...81,554,036
Ensembl chr17:76,610,543...76,645,439

G

tubulin, alpha-like 3

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

NCBI chr17:71,233,194...71,245,297
Ensembl chr17:66,323,733...66,335,355

G

upper zone of growth plate and cartilage matrix associated

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

NCBI chr17:73,293,977...73,303,709
Ensembl chr17:73,293,978...73,303,611

G

urocortin 3

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

NCBI chr17:71,219,611...71,225,904
Ensembl chr17:66,309,371...66,315,990

G

UPF2, regulator of nonsense mediated mRNA decay

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

NCBI chr17:77,133,975...77,245,266
Ensembl chr17:72,225,316...72,335,855

G

USP6 N-terminal like

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

NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027

G

vimentin

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

NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187

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 6:136,132,567...136,140,008
Ensembl chr 6:130,311,372...130,318,815

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:82,473,097...82,818,564
Ensembl chr17:77,564,460...77,909,106

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 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377

G

cubilin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

PMID:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 More...

NCBI chr17:81,293,619...81,501,694
Ensembl chr17:76,385,060...76,593,231

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:81,992,284...82,014,676
Ensembl chr17:77,083,740...77,106,073

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353

G

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

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:76,740,755...76,884,178
Ensembl chr17:76,745,224...76,884,299

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:82,028,779...82,074,717
Ensembl chr17:77,120,158...77,166,467

G

Tnf receptor-associated factor 3

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 6:136,025,097...136,128,363
Ensembl chr 6:130,206,484...130,305,481

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:81,510,740...81,554,036
Ensembl chr17:76,610,543...76,645,439

G

vimentin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187

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

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 | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA

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

NCBI chr 6:136,132,567...136,140,008
Ensembl chr 6:130,311,372...130,318,815

G

cobalamin binding intrinsic factor

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

RGD

PMID:15738392 PMID:10435666

RGD:11049583, RGD:11049586

NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344

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 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377

G

cubilin

DNA:missense mutation:cds:p.P1297L (human)
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 | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:7573042 PMID:9536098 PMID:10080186 PMID:10887099 PMID:15024727 More...

NCBI chr17:81,293,619...81,501,694
Ensembl chr17:76,385,060...76,593,231

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

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

ClinVar
OMIM
RGD

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

NCBI chr 6:136,132,567...136,140,008
Ensembl chr 6:130,311,372...130,318,815

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 6:130,333,712...130,416,631
Ensembl chr 6:130,333,712...130,416,377

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: ITGA3-related condition | ClinVar Annotator: match by term: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

PMID:16199547 PMID:22512483 PMID:24088041 PMID:24220332 PMID:25741868 More...

NCBI chr10:80,486,998...80,522,548
Ensembl chr10:79,990,161...80,022,118

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

RGD

NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585

G

interleukin 13

RGD

NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

Protein:increased expression:plasma (rat)

RGD

NCBI chr 9:30,640,844...30,644,331
Ensembl chr 9:23,144,402...23,147,889

G

galectin 1

protein:decreased expression:glomerulus, podocytes (rat)

RGD

NCBI chr 7:112,365,695...112,368,801
Ensembl chr 7:110,481,392...110,488,345

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Lipoid nephrosis

PMID:23687361 PMID:32581362

NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899

G

nuclear receptor subfamily 3, group C, member 1

disease_progression

RGD

NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375

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)

RGD

PMID:12900808 PMID:15687724 PMID:19011907

RGD:7244138, RGD:7244146, RGD:7244144

NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495

low molecular weight proteinuria with hypercalciuric nephrocalcinosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:7915957 PMID:8559248 PMID:9062355 PMID:9187673 PMID:9328929 More...

NCBI chr X:17,857,260...18,011,844
Ensembl chr X:15,185,451...15,334,264

nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

protein:increased activity:multiple (rats)
Adriamycin Nephrosis

RGD

PMID:8303709 PMID:8665777

RGD:8157608, RGD:12879388

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836

G

angiopoietin 1

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 7:75,415,959...75,668,696
Ensembl chr 7:73,531,486...73,784,067

G

angiopoietin 2

mRNA:increased expression:kidney (rat)

RGD

PMID:18929866 PMID:18929864

RGD:2314177, RGD:2314178

NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804

G

catalase

mRNA: decreased expression: glomerulus

RGD

NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 1

RGD

NCBI chr10:67,625,962...67,628,740
Ensembl chr10:67,128,331...67,131,159

G

C-C motif chemokine ligand 7

RGD

NCBI chr10:67,514,095...67,515,945
Ensembl chr10:67,016,446...67,018,303

G

CD36 molecule

RGD

NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

CD59b molecule

RGD

NCBI chr 3:110,914,008...110,932,489
Ensembl chr 3:90,459,162...90,478,847

G

complement factor H

protein:altered expression:kidney:

RGD

NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:119,782,595...119,800,014

G

cytochrome P450, family 11, subfamily a, polypeptide 1

mRNA:decreased expression

RGD

NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:58,404,669...58,434,338

G

cytochrome P450, family 27, subfamily b, polypeptide 1

RGD

NCBI chr 7:64,756,626...64,761,570
Ensembl chr 7:62,871,297...62,876,241

G

cytochrome P450, family 3, subfamily a, polypeptide 18

CTD Direct Evidence: marker/mechanism

NCBI chr12:13,994,312...14,044,185
Ensembl chr12:8,880,528...8,930,381

G

cytochrome P450, family 3, subfamily a, polypeptide 9

CTD Direct Evidence: marker/mechanism

NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422

G

DNA-damage inducible transcript 3

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

CTD
RGD

PMID:16400006 PMID:16400006

NCBI chr 7:65,001,695...65,006,517
Ensembl chr 7:63,116,380...63,121,201

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:76,850,982...76,858,699

G

endothelin 1

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

CTD
RGD

PMID:7756592 PMID:9175058

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885

G

endothelin receptor type B

CTD Direct Evidence: marker/mechanism

NCBI chr15:87,055,490...87,086,765
Ensembl chr15:80,643,043...80,672,115

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18541230 PMID:18541230

NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:77,596,198...77,609,486

G

GATA binding protein 3

HDR Syndrome/Barakat Syndrome, OMIM:146255

RGD

NCBI chr17:73,544,234...73,575,670
Ensembl chr17:68,643,873...68,665,391

G

glutathione peroxidase 1

RGD

NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024

G

hepatitis A virus cellular receptor 1

mRNA,protein:increased expression:kidney:

RGD

NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698

G

heparanase

CTD Direct Evidence: marker/mechanism

NCBI chr14:9,200,971...9,241,377
Ensembl chr14:8,896,593...8,937,010

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 1 beta

RGD

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600

G

laminin subunit beta 2

NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549

G

LDL receptor related protein 2

mRNA:decreased expression:glomerulus

RGD

NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:54,189,308...54,346,708

G

nestin

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

CTD
RGD

PMID:16418842 PMID:17637254

NCBI chr 2:175,735,715...175,745,631
Ensembl chr 2:173,438,734...173,447,777

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

natriuretic peptide A

protein:increased expression:plasma

RGD

NCBI chr 5:163,712,184...163,713,493
Ensembl chr 5:158,429,042...158,430,351

G

natriuretic peptide B

protein:increased expression:plasma

RGD

NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168

G

podoplanin

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 5:160,884,995...160,919,112
Ensembl chr 5:155,601,691...155,635,656

G

protein tyrosine phosphatase, receptor type, U

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 5:149,234,624...149,308,857
Ensembl chr 5:143,950,965...144,024,768

G

renin

CTD Direct Evidence: marker/mechanism

PMID:2046802 PMID:6358456

NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249

G

sterol regulatory element binding transcription factor 2

protein:altered localization:nucleus

RGD

NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848

G

steroidogenic acute regulatory protein

mRNA:decreased expression:ovary

RGD

NCBI chr16:72,969,824...72,974,447
Ensembl chr16:66,264,807...66,271,672

G

vimentin

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

CTD
RGD

PMID:16418842 PMID:16418842

NCBI chr17:81,577,261...81,585,746
Ensembl chr17:76,668,647...76,677,187

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

CTD
RGD

PMID:11304663 PMID:9453001

NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786

G

acetyl-CoA acetyltransferase 1

protein:increased expression:kidney (rat)

RGD

NCBI chr 8:62,876,003...62,905,080
Ensembl chr 8:53,979,813...54,008,855

G

angiotensin I converting enzyme

treatment

protein:increased activity:multiple

RGD

PMID:2175683 PMID:15942045

RGD:11038913, RGD:1598707

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

actinin alpha 4

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:93,310,294...93,379,369
Ensembl chr 1:84,182,788...84,251,847

G

alanine--glyoxylate aminotransferase

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:10453743 PMID:15110324 PMID:15327387 PMID:15464418 PMID:17495019 More...

NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:93,675,384...93,685,336

G

albumin

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:1556257 PMID:17178036 PMID:22203175

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836

G

ALMS1, centrosome and basal body associated protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005

G

arachidonate 5-lipoxygenase

RGD

NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743

G

anillin, actin binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 8:29,134,222...29,197,513
Ensembl chr 8:20,858,228...20,921,538

G

apolipoprotein A1

RGD

NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein B

protein:increased expression:serum (rat)

RGD

NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein C2

protein:increased expression:serum

RGD

NCBI chr 1:88,457,397...88,462,365
Ensembl chr 1:79,329,428...79,334,476

G

apolipoprotein C3

protein:increased expression:serum

RGD

NCBI chr 8:55,428,172...55,430,352
Ensembl chr 8:46,531,478...46,533,583

G

apolipoprotein E

protein:increased expression:serum (human)

RGD

NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr14:6,800,624...7,183,877
Ensembl chr14:6,800,631...7,183,823

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 chr10:106,352,858...106,356,347
Ensembl chr10:105,854,533...105,858,023

G

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

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 9:80,614,311...80,634,360
Ensembl chr 9:73,164,846...73,184,889

G

advillin

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:62,826,025...62,844,071

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 chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172

G

bone gamma-carboxyglutamate protein

protein:decreased expression:serum

RGD

NCBI chr 2:176,136,341...176,137,318
Ensembl chr 2:173,838,518...173,839,495

G

Cd2 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:191,399,510...191,412,659
Ensembl chr 2:188,710,900...188,724,026

G

cyclin-dependent kinase 20

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29127259

NCBI chr17:701,122...707,869
Ensembl chr17:701,124...707,826

G

complement factor I

disease_progression

RGD

NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:218,387,990...218,430,561

G

cofilin 1

treatment

RGD

NCBI chr 1:212,227,124...212,230,656
Ensembl chr 1:202,786,627...202,817,587

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:17,857,260...18,011,844
Ensembl chr X:15,185,451...15,334,264

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:19008299 PMID:25741868 PMID:29127259

NCBI chr10:99,192,604...99,207,640
Ensembl chr10:98,695,423...98,709,292

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624

G

collagen type IV alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412

G

collagen type IV alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839

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 chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895

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 chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876

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:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr14:8,941,429...8,961,418
Ensembl chr14:8,941,461...8,960,891

G

coenzyme Q8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33532864

NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180

G

carboxypeptidase B2

protein:increased activity,increased expression:plasma

RGD

NCBI chr15:56,967,128...57,015,964
Ensembl chr15:50,557,717...50,606,556

G

cystinosin, lysosomal cystine transporter

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr10:58,300,069...58,315,725
Ensembl chr10:57,801,456...57,817,120

G

cathepsin L

mRNA, protein:increased expression:glomerulus (rat)

RGD

NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548

G

dopa decarboxylase

protein:decreased activity:renal cortex (rat)

RGD

NCBI chr14:90,592,304...90,682,830
Ensembl chr14:86,378,685...86,469,208

G

diacylglycerol O-acyltransferase 1

mRNA,protein:increased expression:liver:

RGD

NCBI chr 7:110,104,514...110,119,091
Ensembl chr 7:108,218,524...108,234,299

G

diacylglycerol kinase epsilon

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23274426 PMID:23542698 PMID:25349199 PMID:25741868 PMID:28492532 More...

NCBI chr10:74,348,931...74,374,509
Ensembl chr10:73,855,583...73,877,100

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28492532 PMID:29127259

NCBI chr17:77,242,512...77,316,074
Ensembl chr17:72,355,201...72,406,723

G

endothelin converting enzyme 1

mRNA,protein:increased expression:kidney:

RGD

NCBI chr 5:155,361,031...155,462,723
Ensembl chr 5:150,077,644...150,179,371

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885

G

endothelin receptor type A

mRNA:increased expression:Glomerulus

RGD

NCBI chr19:47,137,360...47,207,961
Ensembl chr19:30,233,571...30,297,049

G

erythropoietin

treatment

RGD

NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946

G

coagulation factor III, tissue factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:212,511,675...212,523,375
Ensembl chr 2:209,826,959...209,838,668

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Nephrotic syndrome

MouseDO
ClinVar

PMID:25741868 PMID:26905694 PMID:28492532

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221

G

fibronectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678

G

galactosidase, alpha

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr X:102,062,497...102,073,915
Ensembl chr X:97,768,996...97,780,664

G

glycoprotein Ib platelet subunit alpha

protein: reduced expression: :

RGD

NCBI chr10:55,831,901...55,856,729
Ensembl chr10:55,352,899...55,356,774

G

glycerol-3-phosphate acyltransferase, mitochondrial

RGD

NCBI chr 1:264,111,599...264,176,112
Ensembl chr 1:254,106,331...254,142,639

G

glypican 5

CTD Direct Evidence: therapeutic

NCBI chr15:92,207,275...93,644,054
Ensembl chr15:92,239,176...93,643,282

G

glutathione peroxidase 1

mRNA:increased expression:kidney

RGD

NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

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

RGD

PMID:12824952 PMID:20685819 PMID:20685819

RGD:1625122, RGD:7205671, RGD:7205671

NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035

G

glutathione peroxidase 4

mRNA:decreased expression:kidney

RGD

NCBI chr 7:10,300,833...10,303,629
Ensembl chr 7:9,650,185...9,652,982

G

guanylate cyclase activator 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:138,532,160...138,534,210
Ensembl chr 5:133,246,909...133,248,966

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:50,307,569...50,312,812
Ensembl chr19:33,397,656...33,402,899

G

insulin-like growth factor binding protein, acid labile subunit

RGD

NCBI chr10:14,397,076...14,408,439
Ensembl chr10:13,898,395...13,902,677

G

interleukin 1 beta

severity

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

RGD

PMID:21359962 PMID:21103916 PMID:14760799

RGD:7175324, RGD:7175339, RGD:7175337

NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

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

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

treatment

RGD

NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750

G

interleukin 5

RGD

NCBI chr10:38,375,132...38,378,003
Ensembl chr10:37,874,342...37,877,213

G

inverted formin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29127259

NCBI chr 6:137,470,259...137,497,039
Ensembl chr 6:131,649,211...131,675,941

G

integrin subunit alpha 3

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:22512483 PMID:29127259

NCBI chr10:80,486,998...80,522,548
Ensembl chr10:79,990,161...80,022,118

G

integrin subunit beta 4

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532

NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012

G

intersectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29773874

NCBI chr11:44,464,515...44,646,598
Ensembl chr11:30,978,590...31,160,645

G

intersectin 2

NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124

G

Janus kinase 2

RGD

NCBI chr 1:236,408,905...236,468,769
Ensembl chr 1:226,995,334...227,054,189

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 5:113,401,491...113,465,526
Ensembl chr 5:113,402,468...113,465,555

G

potassium inwardly-rectifying channel, subfamily J, member 1

RGD

NCBI chr 8:39,014,822...39,066,716
Ensembl chr 8:30,753,617...30,813,796

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 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:23999528 PMID:24130771 PMID:25741868 PMID:26553438 PMID:28492532 More...

NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:167,270,296...167,318,451

G

laminin subunit beta 2

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549

G

lipase C, hepatic type

protein, mRNA:reduced expression:liver (rat)

RGD

NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:71,509,635...71,635,464

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 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899

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 chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244

G

myosin, heavy chain 9

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457

G

myosin IE

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29127259

NCBI chr 8:70,887,934...71,080,180
Ensembl chr 8:70,887,870...71,080,169

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:109,897,723...109,958,247
Ensembl chr 8:101,018,702...101,079,300

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:53,206,006...53,332,417
Ensembl chr 9:45,714,883...45,840,307

G

NFKB inhibitor alpha

exacerbates

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

RGD

NCBI chr 6:78,593,844...78,597,307
Ensembl chr 6:72,858,712...72,861,941

G

NOC3-like DNA replication regulator

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318

G

nitric oxide synthase 1

protein:decreased expression:kidney

RGD

NCBI chr12:44,276,011...44,456,371
Ensembl chr12:38,626,714...38,710,945

G

NPHS1 adhesion molecule, nephrin

treatment

mRNA,protein:decreased expression:podocyte (mouse)
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861

PMID:15942045 PMID:22493483

RGD:1598707, RGD:38599005

NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078

G

NPHS2 stomatin family member, podocin

treatment

ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
RGD

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

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

nuclear receptor subfamily 3, group C, member 1

treatment

RGD

NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375

G

nucleoporin 93

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr19:10,690,154...10,793,937
Ensembl chr19:10,682,075...10,788,026

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr15:24,137,149...24,144,568
Ensembl chr15:24,137,153...24,144,568

G

paired box 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321

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 chr20:46,709,631...46,938,704
Ensembl chr20:46,709,649...46,938,708

G

phospholipase A2 group VII

protein:increased activity:plasma

RGD

PMID:15292677 PMID:8692015

RGD:7248795, RGD:7257517

NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476

G

phospholipase C, epsilon 1

onset

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

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

NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438

G

podocalyxin-like

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29244787 PMID:30523047

NCBI chr 4:61,102,434...61,149,131
Ensembl chr 4:60,135,109...60,181,899

G

PPARG coactivator 1 alpha

protein:decreased expression:kidney cortex (rat)

RGD

NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656

G

prostaglandin-endoperoxide synthase 2

RGD

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

renin

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489

G

RT1 class II, locus Db1

CTD Direct Evidence: marker/mechanism

PMID:6420562 PMID:11095018

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

RUNX family transcription factor 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167

G

sodium channel epithelial 1 subunit alpha

RGD

NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:158,122,962...158,146,181

G

sodium channel epithelial 1 subunit beta

RGD

NCBI chr 1:185,861,326...185,915,717
Ensembl chr 1:176,430,103...176,484,451

G

serpin family C member 1

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11304663 PMID:7532794 PMID:8979144

RGD:11035294, RGD:11038563

NCBI chr13:75,790,558...75,804,826
Ensembl chr13:73,257,179...73,284,293

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657

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 chr20:29,590,652...29,637,064
Ensembl chr20:29,047,796...29,094,084

G

solute carrier family 35, member F1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611

G

SMAD family member 1

RGD

NCBI chr19:45,417,430...45,477,962
Ensembl chr19:28,513,131...28,573,651

G

SNF2 related chromatin remodeling annealing helicase 1

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146

G

sterol O-acyltransferase 2

mRNA, protein:increased expression:liver

RGD

NCBI chr 7:135,160,424...135,173,521
Ensembl chr 7:133,281,818...133,294,915

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9152291 PMID:9152291

NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189

G

synaptopodin

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33615071

NCBI chr18:54,048,299...54,106,388
Ensembl chr18:54,026,152...54,102,126

G

TBC1 domain family member 8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:31732614

NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133

G

transferrin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:112,668,667...112,695,376
Ensembl chr 8:103,767,995...103,816,511

G

tissue factor pathway inhibitor

protein:increased expression:plasma

RGD

NCBI chr 3:89,939,862...89,989,253
Ensembl chr 3:69,533,156...69,576,880

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

PMID:1281619 PMID:8023968 PMID:10515446

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

TNF receptor superfamily member 11B

protein:decreased expression:serum

RGD

NCBI chr 7:87,456,318...87,484,324
Ensembl chr 7:85,566,520...85,594,538

G

tensin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29773874

NCBI chr 7:135,108,401...135,126,505
Ensembl chr 7:133,206,364...133,247,888

G

Tp53rk binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28805828 PMID:29127259

NCBI chr 4:119,900,374...119,915,374
Ensembl chr 4:118,342,945...118,357,901

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 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903

G

very low density lipoprotein receptor

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

RGD

NCBI chr 1:234,239,769...234,272,150
Ensembl chr 1:224,814,377...224,845,920

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 1:134,860,329...134,868,475
Ensembl chr 1:134,860,180...134,868,479

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 chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

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 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464

G

ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:2296603 PMID:14709599 PMID:14973778 PMID:14973782 PMID:20679665 More...

NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750

G

Rho GDP dissociation inhibitor alpha

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr10:106,352,858...106,356,347
Ensembl chr10:105,854,533...105,858,023

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 chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172

G

C-C motif chemokine ligand 11

RGD

NCBI chr10:67,525,975...67,530,576
Ensembl chr10:67,028,328...67,032,926

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

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:9536098 PMID:9660941 PMID:9915943 PMID:11317351 PMID:11854170 More...

NCBI chr 1:85,708,793...85,718,670
Ensembl chr 1:85,708,793...85,718,670

G

NPHS1 adhesion molecule, nephrin

DNA:mutations:multiple (human)

RGD

NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | 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 chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438

G

protein S

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1

PMID:10790208 PMID:11127877 PMID:11858485 PMID:18322254 PMID:20880255 More...

NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286

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 chr18:36,121,626...36,133,596
Ensembl chr18:35,824,550...35,882,642

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

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

NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:50,861,367...50,935,903

G

WT1 transcription factor

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:22099579 PMID:25741868 PMID:27719739

NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

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: EMP2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 10

PMID:24814193 PMID:25741868 PMID:28106320 PMID:28492532

NCBI chr10:5,866,869...5,901,533
Ensembl chr10:5,360,073...5,394,733

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 chr 7:55,239,610...55,285,050
Ensembl chr 7:53,353,743...53,398,370

nephrotic syndrome type 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 7

ClinVar Annotator: match by term: Nephrotic syndrome, type 12

NCBI chr 3:182,059,318...182,135,273
Ensembl chr 3:161,516,462...161,716,788

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 chr19:10,690,154...10,793,937
Ensembl chr19:10,682,075...10,788,026

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: NUP205-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 13

PMID:25741868 PMID:26878725 PMID:28492532

NCBI chr 4:64,822,051...64,887,996
Ensembl chr 4:63,854,783...63,920,844

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 | ClinVar Annotator: match by term: SGPL1-related condition

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

NCBI chr20:29,590,652...29,637,064
Ensembl chr20:29,047,796...29,094,084

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: MAGI2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 15

PMID:18414213 PMID:25741868 PMID:26467025 PMID:27932480 PMID:28106320 More...

NCBI chr 4:15,278,518...16,762,427
Ensembl chr 4:14,386,399...15,870,240

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: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16

PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532

NCBI chr 8:28,587,770...28,617,212
Ensembl chr 8:20,311,676...20,340,900

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 chr10:101,324,378...101,342,373
Ensembl chr10:100,825,426...100,844,462

G

nucleoporin 85

ClinVar Annotator: match by term: NUP85-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 17

PMID:25741868 PMID:28492532 PMID:30179222

NCBI chr10:101,305,241...101,323,980
Ensembl chr10:100,806,437...100,825,043

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 chr19:68,789,065...68,838,692
Ensembl chr19:51,891,629...51,941,239

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 chr 3:97,120,723...97,183,227
Ensembl chr 3:76,665,786...76,724,565

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

RGD

NCBI chr 2:121,242,133...121,272,935
Ensembl chr 2:119,314,007...119,353,369

G

advillin

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

PMID:25741868 PMID:29058690

NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:62,826,025...62,844,071

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 chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172

G

collagen type IV alpha 3 chain

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

NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 4 chain

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

PMID:25741868 PMID:28492532

NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:83,755,515...83,875,876

G

collagen type IV alpha 5 chain

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

NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692

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 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294

G

FAT atypical cadherin 1

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

PMID:25615407 PMID:25741868 PMID:26905694 PMID:30862798

NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107

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
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

nuclear receptor subfamily 3, group C, member 1

mRNA:alternative form:blood, mononuclear cell

RGD

NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,271,681...31,393,375

G

nucleoporin 205

CTD Direct Evidence: marker/mechanism

NCBI chr 4:64,822,051...64,887,996
Ensembl chr 4:63,854,783...63,920,844

G

nucleoporin 93

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,690,154...10,793,937
Ensembl chr19:10,682,075...10,788,026

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 chr 1:253,555,447...253,646,623
Ensembl chr 1:243,616,606...243,695,321

G

phospholipase A2 group VII

disease_progression

RGD

NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476

G

phospholipase C, epsilon 1

DNA:mutations: :

RGD

NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438

G

SNF2 related chromatin remodeling annealing helicase 1

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

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

NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146

G

transient receptor potential cation channel, subfamily C, member 6

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

RGD

NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092

G

Ts translation elongation factor, mitochondrial

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

PMID:25741868 PMID:29058690

NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:62,845,488...62,864,769

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 chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

G

exportin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,237,760...22,275,745
Ensembl chr 9:14,740,182...14,778,171

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 | ClinVar Annotator: match by term: TBC1D8B-related condition

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

NCBI chr X:103,319,181...103,407,137
Ensembl chr X:103,319,340...103,407,133

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: AVIL-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 21

PMID:25741868 PMID:29058690

NCBI chr 7:64,711,294...64,729,436
Ensembl chr 7:62,826,025...62,844,071

G

Ts translation elongation factor, mitochondrial

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

PMID:25741868 PMID:29058690

NCBI chr 7:64,714,330...64,750,106
Ensembl chr 7:62,845,488...62,864,769

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: NOS1AP-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 22

PMID:25741868 PMID:28492532 PMID:33523862

NCBI chr13:85,080,558...85,353,741
Ensembl chr13:82,530,577...82,820,949

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 chr 2:172,521,644...172,615,057
Ensembl chr 2:172,525,245...172,615,299

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 chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497

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:24130771 PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 More...

NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:167,270,296...167,318,451

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 chr 1:236,556,037...236,585,372
Ensembl chr 1:236,556,789...236,585,318

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition

PMID:9536098 PMID:17086182 PMID:17576681 PMID:18065803 PMID:18709391 More...

NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438

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 chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

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: Nephrotic syndrome, type 5, with or without ocular abnormalities

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

NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549

G

protein phosphatase 2, regulatory subunit B', delta

ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities

PMID:25741868 PMID:26576547 PMID:28492532 PMID:30676711 PMID:32295525

NCBI chr 9:21,767,963...21,797,997
Ensembl chr 9:14,268,745...14,300,400

G

serpin family A member 10

ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities

PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868

NCBI chr 6:128,520,894...128,529,332
Ensembl chr 6:122,756,108...122,764,544

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 | ClinVar Annotator: match by term: PTPRO-related condition

PMID:21722858 PMID:25741868 PMID:28106320 PMID:28492532

NCBI chr 4:171,895,104...172,105,911
Ensembl chr 4:170,164,431...170,374,771

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: AHUS, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome with DGKE deficiency | 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 chr10:74,348,931...74,374,509
Ensembl chr10:73,855,583...73,877,100

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: ARHGDIA-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 8

PMID:23867502 PMID:25741868 PMID:28492532

NCBI chr10:106,352,858...106,356,347
Ensembl chr10:105,854,533...105,858,023

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: COQ8B-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 9

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24270420 PMID:25741868 More...

NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180

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)

RGD

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

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:156,785,009...156,787,477
Ensembl chr X:151,633,522...151,635,989

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664

overactive bladder syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenylate cyclase activating polypeptide 1

CTD Direct Evidence: therapeutic

NCBI chr 9:120,550,236...120,569,096
Ensembl chr 9:113,103,718...113,109,773

G

bradykinin receptor B1

RGD

NCBI chr 6:130,275,631...130,284,968
Ensembl chr 6:124,510,870...124,513,747

G

CD40 ligand

protein:increased expression:urine

RGD

NCBI chr X:140,164,341...140,176,057
Ensembl chr X:135,126,969...135,138,306

G

C-reactive protein

protein:increased expression:serum

RGD

NCBI chr13:87,694,062...87,695,978
Ensembl chr13:85,124,977...85,175,178

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885

G

gap junction protein, alpha 1

mRNA:increased expression:urinary bladder

RGD

NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582

G

gap junction protein, alpha 5

mRNA:increased expression:urinary bladder

RGD

NCBI chr 2:187,291,227...187,310,770
Ensembl chr 2:184,564,475...184,621,952

G

nerve growth factor

treatment

associated with Hypertension
CTD Direct Evidence: marker/mechanism
associated with Cystitis
associated with Cystitis;protein:increased expression:urine
protein:increased expression:serum

CTD
RGD

PMID:16600756 PMID:22473863 PMID:17050722 PMID:21605172 PMID:21717507 More...

RGD:7242775, RGD:7242798, RGD:7242780, RGD:7242779, RGD:7242778

NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452

G

NAD(P)H quinone dehydrogenase 1

treatment

associated with Spinal Cord Injuries

RGD

NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557

G

neuregulin 1

treatment

RGD

NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884

G

proenkephalin

treatment

RGD

NCBI chr 5:21,981,381...21,987,074
Ensembl chr 5:17,183,806...17,189,129

G

transient receptor potential cation channel, subfamily A, member 1

CTD Direct Evidence: marker/mechanism|therapeutic

CTD
RGD

PMID:21367919 PMID:23523557 PMID:21367919

NCBI chr 5:9,163,060...9,217,325
Ensembl chr 5:4,379,999...4,433,570

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

RGD

NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429

G

complement C5

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

PMID:7730648 PMID:19414197 PMID:23371790 PMID:24521109 PMID:25534848 More...

NCBI chr 3:38,668,174...38,759,468
Ensembl chr 3:18,270,696...18,361,994

G

C-X-C motif chemokine receptor 4

treatment

RGD

NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883

G

phosphatidylinositol glycan anchor biosynthesis, class A

associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

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

NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804

G

phosphatidylinositol glycan anchor biosynthesis, class T

CTD Direct Evidence: marker/mechanism

NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

G

RT1 class II, locus Ba

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,598,475...4,604,118
Ensembl chr20:4,596,559...4,607,597

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:2915993 PMID:24706016 PMID:25741868 PMID:28492532 PMID:29159939 More...

NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

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 chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887

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 chr 8:117,859,700...117,866,692
Ensembl chr 8:108,976,472...108,988,126

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME

PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9463314 More...

NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437

G

similar to human chromosome 11 open reading frame 65

ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME

PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9463314 More...

NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748

G

similar to human chromosome 3 open reading frame 62

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:117,958,583...117,963,137
Ensembl chr 8:109,036,030...109,097,895

G

coiled-coil domain containing 71

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:118,025,192...118,040,143
Ensembl chr 8:109,146,359...109,165,216

G

ciliary microtubule inner protein 7

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:118,002,336...118,019,337
Ensembl chr 8:109,124,762...109,140,791

G

dystroglycan 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325

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 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965

G

glutathione peroxidase 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024

G

interactor of HORMAD1 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:117,969,099...118,005,724
Ensembl chr 8:109,092,758...109,125,434

G

kelch domain containing 8B

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:118,020,136...118,025,102
Ensembl chr 8:109,141,594...109,146,918

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
OMIM:609049
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:2206901 PMID:9536098 PMID:14136829 PMID:15367484 PMID:15372515 More...

RGD:7207425, RGD:7207425

NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549

G

nicolin 1, tubulin polyglutamylase complex subunit

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:117,854,210...117,860,185
Ensembl chr 8:108,976,464...108,981,067

G

ras homolog family member A

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746

G

T-cell leukemia translocation altered

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:117,867,153...117,871,132
Ensembl chr 8:108,988,590...108,991,564

G

tensin 2

OMIM:609049

NCBI chr 7:135,108,401...135,126,505
Ensembl chr 7:133,206,364...133,247,888

G

ubiquitin specific peptidase 4

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:117,912,576...117,957,934
Ensembl chr 8:109,036,099...109,080,427

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)

RGD

NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468

G

arginine vasopressin

CTD Direct Evidence: therapeutic

CTD
RGD

PMID:11012637 PMID:10919858

NCBI chr 3:138,246,544...138,248,522
Ensembl chr 3:117,793,457...117,795,425

G

arginine vasopressin; diabetes insipidus mutant

RGD

G

leptin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262

G

oxytocin/neurophysin I prepropeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:117,782,650...117,783,490

G

protein kinase C, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr10:93,388,991...93,787,617
Ensembl chr10:92,894,012...93,288,012

G

prostaglandin E synthase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:34,575,643...34,586,987

G

UDP glucuronosyltransferase family 1 member A1

RGD

NCBI chr 9:96,249,143...96,256,264
Ensembl chr 9:88,713,184...88,808,465

G

UDP glucuronosyltransferase family 1 member A1, jaundice mutant

RGD

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

RGD

PMID:10193250 PMID:10844603

RGD:11038828, RGD:12879396

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

adducin 2

RGD

NCBI chr 4:118,444,594...118,538,505
Ensembl chr 4:118,497,416...118,538,505

G

adducin 3

RGD

NCBI chr 1:252,147,341...252,255,126
Ensembl chr 1:252,147,386...252,255,124

G

advanced glycosylation end product-specific receptor

susceptibility

associated with Diabetes Mellitus, Type 1; DNA:polymorphism:promoter:-374T>A (human)

RGD

NCBI chr20:4,152,758...4,155,956
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

CTD Direct Evidence: marker/mechanism|therapeutic

PMID:464098 PMID:2046802 PMID:9259580 PMID:12937228 PMID:17890855 More...

NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:17021606 PMID:20042458

NCBI chr17:34,383,397...34,435,523
Ensembl chr17:34,174,429...34,226,946

G

albumin

associated with hypertension
CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:839733 PMID:1011057 PMID:7288527 PMID:7297036 PMID:10916085 More...

NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836

G

arachidonate 5-lipoxygenase activating protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:10,785,254...10,809,295
Ensembl chr12:5,748,944...5,772,986

G

ankyrin repeat and sterile alpha motif domain containing 6

RGD

NCBI chr 5:66,104,770...66,146,186
Ensembl chr 5:61,309,183...61,350,596

G

ankyrin repeat and sterile alpha motif domain containing 6, polycystic kidney disease

RGD

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Proteinuria

NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172

G

beta-2 microglobulin

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

CTD
RGD

PMID:33857584 PMID:17634209

NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:109,095,729...109,101,766

G

complement C6

associated with Glomerulonephritis

RGD

NCBI chr 2:55,573,596...55,648,857
Ensembl chr 2:53,851,985...53,921,275

G

CD55 molecule (Cromer blood group)

RGD

NCBI chr13:44,409,574...44,438,913
Ensembl chr13:41,857,395...41,885,831

G

CD8 subunit alpha

associated with Protozoan Infections, Animal;protein:increased expression:kidney (mouse)

RGD

NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:103,365,804...103,370,040

G

complement factor H

protein:altered expression:kidney:

RGD

NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:17,857,260...18,011,844
Ensembl chr X:15,185,451...15,334,264

G

chloride voltage-gated channel Kb

ClinVar Annotator: match by term: Proteinuria

PMID:24830959 PMID:25741868 PMID:26920127 PMID:28381550 PMID:28492532 More...

NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:153,710,094...153,732,153

G

clusterin

treatment

RGD

NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532 PMID:30586318

NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 5 chain

onset

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:34675305

NCBI chr X:109,907,251...110,111,214
Ensembl chr X:105,118,820...105,322,692

G

Col4a5^em1Matsu

collagen type IV alpha 5 chain; CRISPR/Cas9 induced mutant 1, Matsu

onset

RGD

G

Col4a5^em2Matsu

collagen type IV alpha 5 chain; CRISPR/Cas9 induced mutant 2, Matsu

onset

RGD

G

Col4a5^em3Matsu

collagen type IV alpha 5 chain; CRISPR/Cas9 induced mutant 3, Matsu

onset

RGD

G

cathepsin B

CTD Direct Evidence: marker/mechanism

NCBI chr15:41,565,607...41,586,479
Ensembl chr15:37,389,629...37,410,500

G

cathepsin L

CTD Direct Evidence: marker/mechanism

NCBI chr17:770,104...776,266
Ensembl chr17:764,309...770,548

G

C-X-C motif chemokine ligand 10

RGD

NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975

G

cytochrome b-245 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:16,030,596...16,065,065
Ensembl chr X:13,359,430...13,392,586

G

deoxyribonuclease 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:12,005,305...12,030,615
Ensembl chr10:11,498,931...11,501,869

G

dipeptidylpeptidase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:67,370,794...67,452,422
Ensembl chr 3:46,962,243...47,043,901

G

coagulation factor VII

associated with Diabetes Mellitus; protein:increased activity:plasma (human)

RGD

NCBI chr16:83,191,896...83,202,775
Ensembl chr16:76,489,717...76,500,610

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

PMID:26590112 PMID:33632240 PMID:36999444

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

glucuronidase, beta

CTD Direct Evidence: marker/mechanism

NCBI chr12:32,337,281...32,350,838
Ensembl chr12:26,697,951...26,726,905

G

hepatitis A virus cellular receptor 1

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

CTD
RGD

PMID:19225054 PMID:16467126

NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698

G

hypoxia inducible factor 1 subunit alpha

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

RGD

NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261

G

HR, lysine demethylase and nuclear receptor corepressor

RGD

NCBI chr15:52,036,540...52,056,019
Ensembl chr15:45,626,835...45,646,313

G

intercellular adhesion molecule 1

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

RGD

NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:19,553,645...19,565,438

G

interferon beta 1

ameliorates

associated with nephritis, Puromycin Aminonucleoside Nephrosis

RGD

NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523

G

interferon gamma

CTD Direct Evidence: marker/mechanism

PMID:3091246 PMID:8289579

NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 1 receptor antagonist

associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:9370186 PMID:12138282

NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 6

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human)

RGD

NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178

G

inverted formin 2

ClinVar Annotator: match by term: Proteinuria

PMID:20023659 PMID:20803156 PMID:21258034 PMID:23014460 PMID:23515051 More...

NCBI chr 6:137,470,259...137,497,039
Ensembl chr 6:131,649,211...131,675,941

G

laminin subunit beta 2

RGD

NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549

G

leptin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

sexual_dimorphism

compared to BN
CTD Direct Evidence: marker/mechanism
compared to SS/JrHsdMcwi

CTD
RGD

PMID:36066211 PMID:20159938 PMID:27465994

RGD:7365117, RGD:12911217

NCBI chr 5:121,409,735...121,593,201
Ensembl chr 5:116,289,823...116,475,908

G

leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin

compared to SS/JrHsdMcwi

RGD

G

leptin receptor; fa mutant

sexual_dimorphism

compared to BN

RGD

G

LIM homeobox transcription factor 1 beta

CTD Direct Evidence: marker/mechanism

PMID:19147669 PMID:20199424

NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899

G

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase

RGD

NCBI chr13:41,228,327...41,516,462
Ensembl chr13:38,676,119...38,959,513

G

matrix metallopeptidase 2

ameliorates

associated with Experimental Diabetes Mellitus;

RGD

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin

ameliorates

associated with Experimental Diabetes Mellitus;

RGD

G

mitochondrial inner membrane protein MPV17

CTD Direct Evidence: marker/mechanism

NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244

G

mucin 16, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 8:24,440,840...24,644,494

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
associated with anemia, sickle cell:DNA:SNPs: :

PMID:25741868 PMID:28492532 PMID:20200500 PMID:21910715

RGD:6903242, RGD:6903258

NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457

G

neutrophil cytosolic factor 2

ameliorates

compared to wild-type littermates

RGD

PMID:22326221 PMID:22326221

RGD:9587793, RGD:9587793

NCBI chr13:67,505,492...67,536,015
Ensembl chr13:64,955,503...64,986,277

G

neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1,Mcwi

ameliorates

compared to wild-type littermates

RGD

PMID:22326221 PMID:22326221

RGD:9587793, RGD:9587793

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:109,897,723...109,958,247
Ensembl chr 8:101,018,702...101,079,300

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:53,206,006...53,332,417
Ensembl chr 9:45,714,883...45,840,307

G

NCK-associated protein 5

RGD

NCBI chr13:39,922,576...40,835,849
Ensembl chr13:37,370,792...38,283,268

G

NPHS1 adhesion molecule, nephrin

RGD

NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Proteinuria

PMID:11805166 PMID:11854170 PMID:12446471 PMID:12464671 PMID:14675423 More...

NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313

G

natriuretic peptide B

RGD

NCBI chr 5:163,699,955...163,701,314
Ensembl chr 5:158,416,866...158,418,168

G

nuclear receptor subfamily 4, group A, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:134,247,153...134,268,044
Ensembl chr 7:132,374,840...132,389,297

G

optineurin

associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat)

RGD

NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251

G

p21 (RAC1) activated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:161,522,399...161,637,623
Ensembl chr 1:152,111,188...152,226,383

G

p21 (RAC1) activated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:82,212,896...82,273,803
Ensembl chr11:68,707,969...68,768,816

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Proteinuria

NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128

G

phospholipase A2 group VII

DNA:mutation: :994G>T(human)

RGD

NCBI chr 9:24,859,491...24,901,747
Ensembl chr 9:17,362,225...17,404,476

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chr 1:245,655,855...245,964,966
Ensembl chr 1:236,244,683...236,551,438

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664

G

paraoxonase 1

associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human)

RGD

NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:118,712,261...118,780,723
Ensembl chr 7:116,832,756...116,895,346

G

proteasome activator subunit 2, pseudogene 1

RGD

NCBI chr13:38,189,375...38,190,347

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188

G

RAB38, member RAS oncogene family

RGD

NCBI chr 1:151,595,153...151,675,492
Ensembl chr 1:142,182,556...142,262,924

G

renin

CTD Direct Evidence: marker/mechanism

PMID:464098 PMID:2046802

NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489

G

ras homolog family member A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746

G

RT1 class II, locus Ba

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Db1

CTD Direct Evidence: marker/mechanism

PMID:6420562 PMID:11436868

NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,548,666...4,558,258

G

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:158,122,962...158,146,181

G

syndecan 1

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr 6:37,282,041...37,304,503
Ensembl chr 6:31,562,739...31,585,264

G

serpin family A member 1

protein:increased expression:urine

RGD

NCBI chr 6:128,631,101...128,653,125
Ensembl chr 6:122,866,312...122,888,339

G

solute carrier family 9 member A1

RGD

NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:145,576,334...145,629,624

G

small nuclear ribonucleoprotein D1 polypeptide

associated with Lupus Erythematosus, Systemic in a mouse model

RGD

NCBI chr18:1,969,351...1,980,207
Ensembl chr18:1,696,852...1,708,256

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249

G

sortilin-related VPS10 domain containing receptor 1

associated with hypertension

RGD

NCBI chr 1:249,080,662...249,594,520
Ensembl chr 1:249,081,355...249,594,507

G

sortilin-related VPS10 domain containing receptor 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin

associated with hypertension

RGD

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,308,885...5,315,162

G

transforming growth factor, beta 1

ameliorates

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12937228 PMID:23249995

NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 9

associated with Lupus Erythematosus, Systemic
associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human)

RGD

PMID:23467932 PMID:22787315

RGD:7245987, RGD:7245989

NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796

G

transmembrane protein 163

RGD

NCBI chr13:38,967,913...39,141,664
Ensembl chr13:38,968,101...39,141,452

G

transmembrane protein 67

compared to RGD:14995941

RGD

NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334

G

transmembrane protein 67; wpk mutant

compared to RGD:14995941

RGD

G

transient receptor potential cation channel, subfamily C, member 6

mRNA:increased expression:glomerular podocytes (rat)

RGD

PMID:23385000 PMID:31784544

RGD:7247440, RGD:155882534

NCBI chr 8:14,044,216...14,148,808
Ensembl chr 8:5,758,935...5,828,092

G

tubulin, alpha 1C, pseudogene 1

RGD

NCBI chr13:38,507,496...38,508,836
Ensembl chr13:38,507,401...38,508,943
Ensembl chr13:38,507,401...38,508,943

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641

G

vitronectin

associated with Mesangial Proliferative Glomerulonephritis

RGD

NCBI chr10:63,892,782...63,895,862
Ensembl chr10:63,394,719...63,397,810

G

WT1 transcription factor

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643

G

zinc finger E-box binding homeobox 2

mRNA:increased expression:glomerular podocytes (rat)

RGD

NCBI chr 3:49,624,028...49,754,323
Ensembl chr 3:29,218,301...29,345,157

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

RGD

NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131

G

aminocarboxymuconate semialdehyde decarboxylase

RGD

NCBI chr13:41,752,894...41,798,427
Ensembl chr13:39,200,314...39,245,209

G

actin related protein 2

mRNA, protein:increased expression:cortex of kidney (rat)

RGD

NCBI chr14:98,500,119...98,535,092
Ensembl chr14:94,296,443...94,340,524

G

angiotensinogen

RGD

NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977

G

apolipoprotein E

RGD

NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932

G

BAR/IMD domain containing adaptor protein 2

protein:increased expression:glomerular visceral epithelial cell

RGD

NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134

G

Fas cell surface death receptor

protein:increased expression:renal glomerulus, renal interstitium, renal tubule

RGD

NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591

G

matrix metallopeptidase 2

mRNA:increased expression:renal glomerulus (rat)

RGD

NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870

G

NPHS1 adhesion molecule, nephrin

mRNA, protein:altered expression:glomerulus (rat)

RGD

NCBI chr 1:94,848,261...94,876,522
Ensembl chr 1:85,720,812...85,749,078

G

p21 (RAC1) activated kinase 2

RGD

NCBI chr11:82,212,896...82,273,803
Ensembl chr11:68,707,969...68,768,816

G

renin

RGD

NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489

G

xanthine dehydrogenase

treatment

RGD

NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268

Schimke immuno-osseous dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SNF2 related chromatin remodeling annealing helicase 1

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM:242900
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More...

NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146

Urinary Incontinence

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor alpha 1A

RGD

NCBI chr15:45,005,648...45,111,416
Ensembl chr15:40,832,534...40,927,500

G

5-hydroxytryptamine receptor 2A

DNA:SNP: :102T>C (rs6313)

RGD

NCBI chr15:56,360,647...56,428,703
Ensembl chr15:49,950,804...50,020,928

G

mitogen activated protein kinase 1

RGD

NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616

Urinary Incontinence, Stress

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

elastin

RGD

NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928

G

lysyl oxidase-like 1

DNA:SNPs, haplotype:exon, intron:rs1048661, rs2165241 (human)

RGD

NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:58,692,593...58,716,356

Term paths to the root

Path 1
Term	Annotations
disease	19139
Pathological Conditions, Signs and Symptoms	13625
Signs and Symptoms	11221
Urological Manifestations	627
Hypercalciuria +	12
Lower Urinary Tract Symptoms +	18
Oliguria +	3
Polyuria +	17
Urinoma	0
proteinuria +	589

paths to the root