proteinuria - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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:	proteinuria	go back to main search page
Accession:	DOID:576	browse the term
Definition:	A kidney disease that is characterized by the presence of excess proteins in the urine. (DO)
Synonyms:	exact_synonym:	proteinurias
	primary_id:	MESH:D011507
	xref:	ICD10CM:R80; ICD9CM:791.0; NCI:C38012
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants Sort by:
Rat (588) Mouse (394) Human (8568) Chinchilla (360) Bonobo (382) Dog (382) Squirrel (362) Pig (377) Green Monkey (376) Naked Mole-rat (359) All
Genes (394)

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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

adducin 2

RGD

NCBI chr 6:86,005,663...86,101,391
Ensembl chr 6:86,005,663...86,101,391

G

adducin 3

RGD

NCBI chr19:53,128,874...53,235,518
Ensembl chr19:53,128,874...53,235,830

G

advanced glycosylation end product-specific receptor

susceptibility

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

RGD

NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910

G

angiotensinogen

CTD Direct Evidence: marker/mechanism|therapeutic

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

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

angiotensin II receptor, type 1a

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

CTD
RGD

PMID:17021606 PMID:20042458

NCBI chr13:30,520,339...30,566,850
Ensembl chr13:30,520,424...30,566,850

G

albumin

associated with hypertension
CTD Direct Evidence: marker/mechanism

CTD
RGD

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

NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461

G

arachidonate 5-lipoxygenase activating protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963

G

ankyrin repeat and sterile alpha motif domain containing 6

RGD

NCBI chr 4:47,015,365...47,057,339
Ensembl chr 4:47,015,669...47,057,427

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Proteinuria

NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729

G

beta-2 microglobulin

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

CTD
RGD

PMID:33857584 PMID:17634209

NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564

G

complement component 6

associated with Glomerulonephritis

RGD

NCBI chr15:4,756,550...4,833,527
Ensembl chr15:4,756,657...4,844,449

G

CD55 molecule, decay accelerating factor for complement

RGD

NCBI chr 1:130,357,526...130,390,513
Ensembl chr 1:130,366,764...130,390,481

G

CD8 subunit alpha

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

RGD

NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157

G

complement component factor h

protein:altered expression:kidney:

RGD

NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502

G

chloride channel, voltage-sensitive 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:7,020,049...7,185,597
Ensembl chr X:7,020,049...7,185,597

G

chloride channel, voltage-sensitive Kb

ClinVar Annotator: match by term: Proteinuria

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

NCBI chr 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325

G

clusterin

treatment

RGD

NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996

G

collagen, type IV, alpha 3

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532 PMID:30586318

NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780

G

collagen, type IV, alpha 5

onset

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:34675305

NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230

G

cathepsin B

CTD Direct Evidence: marker/mechanism

NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372

G

cathepsin L

CTD Direct Evidence: marker/mechanism

NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704

G

C-X-C motif chemokine ligand 10

RGD

NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748

G

cytochrome b-245, beta polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr X:9,301,493...9,354,005
Ensembl chr X:9,301,491...9,354,010

G

deoxyribonuclease I

CTD Direct Evidence: marker/mechanism

NCBI chr16:3,855,007...3,857,888
Ensembl chr16:3,854,806...3,857,888

G

dipeptidylpeptidase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 2:62,160,417...62,242,635
Ensembl chr 2:62,160,417...62,242,575

G

coagulation factor VII

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

RGD

NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

PMID:26590112 PMID:33632240 PMID:36999444

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

glucuronidase, beta

CTD Direct Evidence: marker/mechanism

NCBI chr 5:130,011,278...130,031,890
Ensembl chr 5:130,017,852...130,031,890

G

histocompatibility 2, class II antigen A, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797

G

histocompatibility 2, class II antigen E beta

CTD Direct Evidence: marker/mechanism

PMID:6420562 PMID:11436868

NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648

G

histocompatibility 2, M region locus 2

CTD Direct Evidence: marker/mechanism

PMID:3459889 PMID:3487119 PMID:6376799 PMID:6770269

NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443

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 chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405

G

hypoxia inducible factor 1, alpha subunit

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

RGD

NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304

G

lysine demethylase and nuclear receptor corepressor

RGD

NCBI chr14:70,789,644...70,810,988
Ensembl chr14:70,789,652...70,810,988

G

intercellular adhesion molecule 1

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

RGD

NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113

G

interferon beta 1, fibroblast

ameliorates

associated with nephritis, Puromycin Aminonucleoside Nephrosis

RGD

NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011

G

interferon gamma

CTD Direct Evidence: marker/mechanism

PMID:3091246 PMID:8289579

NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797

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 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

interleukin 6

associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human)

RGD

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

inverted formin, FH2 and WH2 domain containing

ClinVar Annotator: match by term: Proteinuria

PMID:20023659 PMID:20803156 PMID:21258034 PMID:23014460 PMID:23515051 More...

NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991

G

laminin, beta 2

RGD

NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729

G

leptin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876

G

leptin receptor

sexual_dimorphism

compared to SS/JrHsdMcwi
CTD Direct Evidence: marker/mechanism
compared to BN

CTD
RGD

PMID:36066211 PMID:27465994 PMID:20159938

RGD:12911217, RGD:7365117

NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549

G

LIM homeobox transcription factor 1 beta

CTD Direct Evidence: marker/mechanism

PMID:19147669 PMID:20199424

NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620

G

mannoside acetylglucosaminyltransferase 5

NCBI chr 1:127,132,450...127,413,760
Ensembl chr 1:127,132,752...127,416,073

G

matrix metallopeptidase 2

ameliorates

associated with Experimental Diabetes Mellitus;

RGD

NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048

G

MpV17 mitochondrial inner membrane protein

CTD Direct Evidence: marker/mechanism

NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595

G

mucin 16

CTD Direct Evidence: marker/mechanism

NCBI chr 9:18,406,741...18,586,117
Ensembl chr 9:18,406,751...18,585,826

G

myosin, heavy polypeptide 9, non-muscle

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 chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375

G

neutrophil cytosolic factor 2

ameliorates

compared to wild-type littermates

RGD

PMID:22326221 PMID:22326221

RGD:9587793, RGD:9587793

NCBI chr 1:152,675,904...152,712,743
Ensembl chr 1:152,675,945...152,712,742

G

non-catalytic region of tyrosine kinase adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:100,376,047...100,428,187
Ensembl chr 9:100,374,346...100,428,187

G

non-catalytic region of tyrosine kinase adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:43,484,643...43,609,678
Ensembl chr 1:43,483,739...43,609,675

G

NCK-associated protein 5

NCBI chr 1:125,841,373...126,758,529
Ensembl chr 1:125,841,357...126,758,536

G

nephrosis 1, nephrin

RGD

NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648

G

nephrosis 2, podocin

ClinVar Annotator: match by term: Proteinuria

PMID:11805166 PMID:11854170 PMID:12446471 PMID:12464671 PMID:14675423 More...

NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605

G

natriuretic peptide type B

NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662

G

nuclear receptor subfamily 4, group A, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676

G

optineurin

associated with Nephrosis, Puromycin Aminonucleoside;protein:increased expression:renal glomerulus (rat)

RGD

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

G

p21 (RAC1) activated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:97,437,748...97,561,588
Ensembl chr 7:97,437,748...97,561,588

G

p21 (RAC1) activated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr16:31,835,108...31,898,160
Ensembl chr16:31,835,108...31,898,160

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Proteinuria

NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482

G

phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)

DNA:mutation: :994G>T(human)

RGD

NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474

G

pro-opiomelanocortin-alpha

CTD Direct Evidence: marker/mechanism

NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642

G

paraoxonase 1

associated with Diabetes Mellitus, Type 2;protein:decreased activity:serum (human)

RGD

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr15:85,619,112...85,691,052
Ensembl chr15:85,619,184...85,687,020

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

G

RAB38, member RAS oncogene family

RGD

NCBI chr 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780

G

renin 1 structural

CTD Direct Evidence: marker/mechanism

PMID:464098 PMID:2046802

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

G

ras homolog family member A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133

G

sodium channel, nonvoltage-gated 1 alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906

G

syndecan 1

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr12:8,821,396...8,843,716
Ensembl chr12:8,821,323...8,843,715

G

solute carrier family 9 (sodium/hydrogen exchanger), member 1

RGD

NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013

G

small nuclear ribonucleoprotein D1

associated with Lupus Erythematosus, Systemic in a mouse model

RGD

NCBI chr18:10,617,796...10,628,230
Ensembl chr18:10,617,775...10,642,079

G

superoxide dismutase 1, soluble

CTD Direct Evidence: therapeutic

NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217

G

sortilin-related VPS10 domain containing receptor 1

associated with hypertension

RGD

NCBI chr19:50,131,733...50,668,030
Ensembl chr19:50,131,737...50,667,084

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916

G

transforming growth factor, beta 1

ameliorates

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12937228 PMID:23249995

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

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 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082

G

transmembrane protein 163

NCBI chr 1:127,418,079...127,605,758
Ensembl chr 1:127,414,283...127,607,285

G

transmembrane protein 67

RGD

NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020

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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

G

vitronectin

associated with Mesangial Proliferative Glomerulonephritis

RGD

NCBI chr11:78,389,946...78,393,151
Ensembl chr11:78,389,917...78,393,150

G

WT1 transcription factor

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961

G

zinc finger E-box binding homeobox 2

mRNA:increased expression:glomerular podocytes (rat)

RGD

NCBI chr 2:44,873,523...45,007,378
Ensembl chr 2:44,873,644...45,007,407

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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

adrenomedullin

associated with Hypertension

RGD

NCBI chr 7:110,226,864...110,229,027
Ensembl chr 7:110,226,868...110,229,027

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 chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

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

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

aldo-keto reductase family 1 member B

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

RGD

NCBI chr 6:34,280,865...34,294,424
Ensembl chr 6:34,279,369...34,294,413

G

albumin

associated with Diabetes Mellitus, Insulin-Dependent
associated with hypertension

RGD

PMID:19414946 PMID:15102963

RGD:2306884, RGD:1601157

NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461

G

arachidonate 12-lipoxygenase

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

RGD

NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179

G

beta-2 microglobulin

associated with HIV infections;protein:increased expression:urine

RGD

NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564

G

caspase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:5,298,517...5,307,281
Ensembl chr 9:5,298,508...5,307,290

G

calcium-sensing receptor

associated with Uremia

RGD

NCBI chr16:36,310,947...36,382,605
Ensembl chr16:36,314,058...36,382,503

G

C-C motif chemokine ligand 4

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

RGD

NCBI chr11:83,553,410...83,555,509
Ensembl chr11:83,553,410...83,555,509

G

CD38 antigen

CTD Direct Evidence: marker/mechanism

NCBI chr 5:44,026,153...44,069,714
Ensembl chr 5:44,025,895...44,069,717

G

class II transactivator

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

RGD

NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309

G

C-reactive protein, pentraxin-related

severity

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

RGD

PMID:20710104 PMID:20016210

RGD:6907441, RGD:6909147

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

colony stimulating factor 1 (macrophage)

treatment

associated with Hypercholesterolemia and Diabetes Mellitus, Experimental

RGD

NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785

G

cystatin C

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

RGD

NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612

G

cathepsin B

associated with Hypertension

RGD

NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372

G

cathepsin L

associated with Hypertension

RGD

NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704

G

cytochrome P450, family 11, subfamily b, polypeptide 2

RGD

NCBI chr15:74,722,467...74,728,080
Ensembl chr15:74,722,467...74,728,167

G

dopamine receptor D1

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

RGD

NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724

G

endothelin 1

protein:increased expression:renal papilla (rat)

RGD

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

erythropoietin

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

RGD

NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504

G

coagulation factor VII

severity
no_association

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:9187410 PMID:8250495

RGD:2312410, RGD:2312406, RGD:2312407

NCBI chr 8:13,075,499...13,085,809
Ensembl chr 8:13,076,034...13,085,809

G

fibrillin 1

associated with Hypertension

RGD

NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913

G

gamma-glutamyltransferase 1

associated with Diabetes Mellitus; protein:increased activity:serum

RGD

NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034

G

guanine nucleotide binding protein, alpha q polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr19:16,110,048...16,365,884
Ensembl chr19:16,110,195...16,364,827

G

glypican 5

CTD Direct Evidence: therapeutic

NCBI chr14:115,329,640...116,762,604
Ensembl chr14:115,329,647...116,762,591

G

hepatitis A virus cellular receptor 1

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

RGD

NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405

G

insulin-like growth factor 1

susceptibility

RGD

NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904

G

interleukin 1 beta

RGD

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979

G

insulin II

CTD Direct Evidence: marker/mechanism

PMID:9861226 PMID:29420703

NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118

G

leptin receptor

CTD Direct Evidence: marker/mechanism

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

NCBI chr 4:101,574,393...101,676,375
Ensembl chr 4:101,574,601...101,672,549

G

lipase, hepatic

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

RGD

NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508

G

low density lipoprotein receptor-related protein 2

RGD

NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409

G

microRNA 130a

CTD Direct Evidence: marker/mechanism

NCBI chr 2:84,571,459...84,571,522
Ensembl chr 2:84,571,459...84,571,522

G

microRNA 145a

CTD Direct Evidence: marker/mechanism

NCBI chr18:61,780,896...61,780,965
Ensembl chr18:61,780,896...61,780,965

G

microRNA 155

CTD Direct Evidence: marker/mechanism

NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092

G

microRNA 322

CTD Direct Evidence: marker/mechanism

NCBI chr X:52,143,132...52,143,226
Ensembl chr X:52,143,132...52,143,226

G

matrix metallopeptidase 9

onset

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

RGD

NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770

G

methylenetetrahydrofolate reductase

susceptibility

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

RGD

NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008

G

myosin, heavy polypeptide 9, non-muscle

associated with hypertension;DNA:SNPs: :

RGD

NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375

G

non-catalytic region of tyrosine kinase adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:100,376,047...100,428,187
Ensembl chr 9:100,374,346...100,428,187

G

non-catalytic region of tyrosine kinase adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:43,484,643...43,609,678
Ensembl chr 1:43,483,739...43,609,675

G

nephrosis 2, podocin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605

G

nuclear receptor subfamily 4, group A, member 1

compared to FHH

RGD

NCBI chr15:101,151,783...101,172,676
Ensembl chr15:101,152,150...101,172,676

G

podoplanin

RGD

NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134

G

paraoxonase 1

DNA:polymorphisms:promoter, cds (human)

RGD

NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946

G

peroxisome proliferative activated receptor, gamma, coactivator 1 alpha

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

RGD

NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

G

parathyroid hormone

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

RGD

NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 7:127,590,545...127,593,039
Ensembl chr 7:127,588,880...127,593,039

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 7:88,079,481...88,140,780
Ensembl chr 7:88,079,481...88,140,780

G

recombination activating 1

RGD

NCBI chr 2:101,468,597...101,479,877
Ensembl chr 2:101,468,627...101,479,846

G

renin 1 structural

CTD Direct Evidence: marker/mechanism

PMID:12414515 PMID:18679781

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

G

renin 2 tandem duplication of Ren1

CTD Direct Evidence: marker/mechanism

PMID:12586211 PMID:27428043

G

resistin

associated with Hypertension;protein:increased expression:blood

RGD

NCBI chr 8:3,705,770...3,709,818
Ensembl chr 8:3,705,770...3,710,110

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

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

RGD

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

serine (or cysteine) peptidase inhibitor, clade F, member 1

treatment

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

RGD

NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527

G

SH2B adaptor protein 3

RGD

NCBI chr 5:121,953,544...121,975,706
Ensembl chr 5:121,953,551...121,975,709

G

src homology 2 domain-containing transforming protein C1

ameliorates

compared to SS/JrHsdMcwi

RGD

NCBI chr 3:89,325,858...89,337,336
Ensembl chr 3:89,325,750...89,337,334

G

superoxide dismutase 2, mitochondrial

CTD Direct Evidence: marker/mechanism

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

secreted phosphoprotein 1

RGD

NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916

G

transmembrane protein 63c

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

RGD

NCBI chr12:87,068,114...87,138,598
Ensembl chr12:87,068,114...87,136,817

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

G

transient receptor potential cation channel, subfamily C, member 3

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

RGD

NCBI chr 3:36,674,626...36,744,276
Ensembl chr 3:36,674,631...36,744,316

G

transient receptor potential cation channel, subfamily C, member 5

RGD

NCBI chr X:143,160,323...143,471,176
Ensembl chr X:143,164,667...143,471,176

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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism

NCBI chr18:32,948,436...32,952,852
Ensembl chr18:32,948,436...32,952,850

G

vascular cell adhesion molecule 1

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

RGD

NCBI chr 3:115,903,669...115,923,337
Ensembl chr 3:115,903,598...115,923,337

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

dyskeratosis congenita 1, dyskerin

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

NCBI chr X:74,139,460...74,153,382
Ensembl chr X:74,139,460...74,153,383

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 2:112,092,271...112,093,243
Ensembl chr 2:112,092,271...112,093,614

CD59 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD59b antigen

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 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534

Chronic Benign Proteinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cubilin

ClinVar Annotator: match by term: Proteinuria, chronic benign

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

NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624

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 1a (interstitial collagenase)

protein:decreased activity:kidney (mouse)

RGD

NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857

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 chr11:73,195,813...73,217,677
Ensembl chr11:73,195,818...73,220,422

G

cystinosis, nephropathic

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 chr11:73,073,959...73,089,869
Ensembl chr11:73,074,422...73,089,868

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 chr11:73,090,153...73,115,337
Ensembl chr11:73,090,286...73,115,337

G

Tax1 (human T cell leukemia virus type I) 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 chr11:73,067,909...73,072,872
Ensembl chr11:73,067,909...73,073,988

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 chr11:73,124,975...73,152,148
Ensembl chr11:73,125,118...73,152,068

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 chr11:73,158,315...73,191,194
Ensembl chr11:73,158,214...73,191,189

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

ClinVar Annotator: match by term: Diffuse mesangial sclerosis

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

NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570

G

laminin, beta 2

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

PMID:15367484 PMID:25741868 PMID:28492532

NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729

G

Wt1 promoter region

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

PMID:15266301 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 2:104,956,361...104,957,127

G

phospholipase C, epsilon 1

DNA:mutations: :

RGD

NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474

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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961

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 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382

G

low density lipoprotein receptor-related protein 2

ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition
CTD Direct Evidence: marker/mechanism
OMIM:222448

OMIM
ClinVar
CTD
MouseDO

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

NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409

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 chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729

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 7:30,146,955...30,160,105
Ensembl chr 7:30,146,959...30,157,115

G

nephrosis 2, podocin

ClinVar Annotator: match by term: Hereditary nephrotic syndrome

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

NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605

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 chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062

G

L antigen family, member 3

CTD Direct Evidence: marker/mechanism

NCBI chr X:73,395,768...73,397,224
Ensembl chr X:73,394,882...73,397,224

G

O-sialoglycoprotein endopeptidase

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

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

NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350

G

Tp53rk binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266

G

transformation related protein 53 regulating kinase A

CTD Direct Evidence: marker/mechanism

NCBI chr 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244

G

WD repeat domain 4

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:30079490

NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954

G

WD repeat domain 73

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

PMID:25466283 PMID:25741868

NCBI chr 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017

G

zinc finger protein 592

CTD Direct Evidence: marker/mechanism

NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912

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 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681

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 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017

G

zinc finger protein 592

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

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

NCBI chr 7:80,643,432...80,694,912
Ensembl chr 7:80,643,429...80,694,912

Galloway-Mowat Syndrome 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 1110065P20 gene

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

PMID:28492532 PMID:31481669

NCBI chr 4:124,743,284...124,744,479
Ensembl chr 4:124,742,873...124,744,989

G

yrdC domain containing (E.coli)

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 4:124,744,552...124,749,035
Ensembl chr 4:124,744,472...124,749,035

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:73,395,768...73,397,224
Ensembl chr X:73,394,882...73,397,224

Galloway-Mowat syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Apex1 promoter region

ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition

PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259 PMID:33532864 More...

NCBI chr14:51,162,126...51,162,598

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 chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350

Galloway-Mowat syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transformation related protein 53 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 2:165,332,032...165,335,244
Ensembl chr 2:165,332,030...165,335,244

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 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266

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 chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954

Galloway-Mowat Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 107

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

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

NCBI chr10:117,586,526...117,628,607
Ensembl chr10:117,586,526...117,628,610

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 chr 8:124,623,862...124,676,019
Ensembl chr 8:124,623,862...124,676,004

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 chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062

hypoparathyroidism-deafness-renal disease syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-Coenzyme A binding domain containing 7

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

NCBI chr 2:3,333,850...3,342,035
Ensembl chr 2:3,337,205...3,342,030

G

aldo-keto reductase family 1, member C18

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

NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653

G

aldo-keto reductase family 1, member C21

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

NCBI chr13:4,624,074...4,636,542
Ensembl chr13:4,624,074...4,636,540

G

aldo-keto reductase family 1, member C6

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

NCBI chr13:4,484,354...4,507,529
Ensembl chr13:4,484,305...4,507,876

G

aldo-keto reductase family 1, member E1

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

NCBI chr13:4,641,122...4,659,163
Ensembl chr13:4,640,749...4,659,173

G

ankyrin repeat domain 16

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

NCBI chr 2:11,781,902...11,795,138
Ensembl chr 2:11,782,687...11,795,140

G

ADP-ribosylation factor-like 5B

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

NCBI chr 2:15,060,066...15,087,267
Ensembl chr 2:15,054,206...15,087,267

G

ankyrin repeat and SOCS box-containing 13

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

NCBI chr13:3,683,589...3,703,822
Ensembl chr13:3,684,032...3,703,822

G

ATP synthase F1 subunit gamma

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

NCBI chr 2:10,060,841...10,085,321
Ensembl chr 2:10,060,827...10,085,321

G

BEN domain containing 7

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

NCBI chr 2:4,722,593...4,807,035
Ensembl chr 2:4,722,642...4,806,953

G

C1q-like 3

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

NCBI chr 2:13,006,591...13,016,491
Ensembl chr 2:13,008,268...13,016,617

G

calcium channel, voltage-dependent, beta 2 subunit

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

NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719

G

calmodulin 4

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

NCBI chr13:3,887,757...3,888,671
Ensembl chr13:3,887,757...3,888,673

G

calmodulin-like 3

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

NCBI chr13:3,852,893...3,854,318
Ensembl chr13:3,852,896...3,854,316

G

calcium/calmodulin-dependent protein kinase ID

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

NCBI chr 2:5,298,268...5,719,665
Ensembl chr 2:5,298,268...5,719,326

G

coiled-coil domain containing 3

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

NCBI chr 2:5,142,587...5,235,682
Ensembl chr 2:5,142,587...5,235,689

G

cell division cycle 123

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

NCBI chr 2:5,799,105...5,849,988
Ensembl chr 2:5,799,105...5,849,975

G

cerebral dopamine neurotrophic factor

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

NCBI chr 2:3,514,102...3,527,413
Ensembl chr 2:3,514,067...3,527,413

G

CUGBP, Elav-like family member 2

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

NCBI chr 2:6,544,505...7,401,345
Ensembl chr 2:6,544,505...7,514,374

G

cubilin

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

NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624

G

DNA cross-link repair 1C

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

NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167

G

dehydrogenase E1 and transketolase domain containing 1

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

NCBI chr 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603

G

enoyl Coenzyme A hydratase domain containing 3

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

NCBI chr 2:6,193,276...6,217,805
Ensembl chr 2:6,193,276...6,217,844

G

family with sequence similarity 107, member B

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

NCBI chr 2:3,705,049...3,783,179
Ensembl chr 2:3,571,525...3,783,179

G

family with sequence similarity 171, member A1

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

NCBI chr 2:3,115,261...3,228,843
Ensembl chr 2:3,115,261...3,228,843

G

F-box DNA helicase 1

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

NCBI chr 2:11,747,384...11,782,396
Ensembl chr 2:11,747,384...11,782,393

G

FERM domain containing 4A

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

NCBI chr 2:4,022,461...4,618,854
Ensembl chr 2:4,022,528...4,618,854

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 chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

G

GDP dissociation inhibitor 2

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

NCBI chr13:3,588,075...3,616,261
Ensembl chr13:3,588,063...3,617,871

G

3-hydroxyacyl-CoA dehydratase 1

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

NCBI chr 2:14,031,642...14,060,846
Ensembl chr 2:13,855,093...14,060,847

G

interleukin 15 receptor, alpha chain

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

NCBI chr 2:11,709,992...11,739,129
Ensembl chr 2:11,710,101...11,739,128

G

interleukin 2 receptor, alpha chain

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

NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004

G

integrin alpha 8

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

NCBI chr 2:12,111,443...12,306,755
Ensembl chr 2:12,111,443...12,306,733

G

inter-alpha trypsin inhibitor, heavy chain 2

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

NCBI chr 2:10,099,408...10,135,492
Ensembl chr 2:10,099,404...10,136,207

G

inter-alpha-trypsin inhibitor, heavy chain 5

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

NCBI chr 2:10,158,354...10,261,340
Ensembl chr 2:10,158,382...10,261,340

G

Kin17 DNA and RNA binding protein

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

NCBI chr 2:10,085,397...10,097,512
Ensembl chr 2:10,085,404...10,097,617

G

minichromosome maintenance 10 replication initiation factor

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

NCBI chr 2:4,995,535...5,017,602
Ensembl chr 2:4,994,525...5,017,602

G

meiosis expressed gene 1

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

NCBI chr 2:3,410,080...3,423,685
Ensembl chr 2:3,410,080...3,423,685

G

MINDY lysine 48 deubiquitinase 3

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

NCBI chr 2:12,352,074...12,424,298
Ensembl chr 2:12,352,074...12,424,281

G

neuroepithelial cell transforming gene 1

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

NCBI chr13:3,932,018...3,968,220
Ensembl chr13:3,932,018...3,968,220

G

N-myristoyltransferase 2

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

NCBI chr 2:3,285,249...3,329,914
Ensembl chr 2:3,285,249...3,329,914

G

NOL1/NOP2/Sun domain family member 6

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

NCBI chr 2:14,995,255...15,059,683
Ensembl chr 2:14,999,942...15,059,880

G

nudix hydrolase 5

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

NCBI chr 2:5,849,839...5,875,631
Ensembl chr 2:5,849,830...5,876,706

G

oleoyl-ACP hydrolase

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

NCBI chr 2:3,343,019...3,367,964
Ensembl chr 2:3,343,019...3,398,247

G

optineurin

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

NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862

G

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

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

NCBI chr 2:11,476,241...11,558,882
Ensembl chr 2:11,476,244...11,558,888

G

phytanoyl-CoA hydroxylase

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

NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541

G

protein kinase C, theta

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

NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033

G

proline and serine rich 2

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

NCBI chr 2:6,103,304...6,135,100
Ensembl chr 2:6,102,418...6,135,022

G

pre-mRNA processing factor 18

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

NCBI chr 2:4,626,869...4,656,946
Ensembl chr 2:4,626,869...4,656,924

G

phosphotriesterase related

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

NCBI chr 2:12,928,828...13,008,265
Ensembl chr 2:12,928,852...13,008,266

G

RNA binding motif protein 17

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

NCBI chr 2:11,590,250...11,608,061
Ensembl chr 2:11,590,248...11,608,964

G

ribonuclease P/MRP 38 subunit

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

NCBI chr 2:3,328,305...3,334,023
Ensembl chr 2:3,329,986...3,333,680

G

Ras suppressor protein 1

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

NCBI chr 2:13,081,778...13,276,116
Ensembl chr 2:13,081,632...13,276,226

G

SEC61 translocon subunit alpha 2

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

NCBI chr 2:5,875,788...5,900,199
Ensembl chr 2:5,875,798...5,900,243

G

selenophosphate synthetase 1

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

NCBI chr 2:4,886,375...4,915,368
Ensembl chr 2:4,886,375...4,915,368

G

Scm-like with four mbt domains 2

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

NCBI chr 2:10,375,251...10,600,064
Ensembl chr 2:10,375,321...10,600,064

G

solute carrier family 39 (zinc transporter), member 12

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

NCBI chr 2:14,345,476...14,499,787
Ensembl chr 2:14,393,127...14,499,788

G

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

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

NCBI chr 2:13,659,745...13,798,659
Ensembl chr 2:13,655,832...13,798,875

G

signal transducing adaptor molecule (SH3 domain and ITAM motif) 1

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

NCBI chr 2:14,078,912...14,152,351
Ensembl chr 2:14,078,909...14,154,445

G

suppressor of variegation 3-9 2

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

NCBI chr 2:3,456,852...3,476,085
Ensembl chr 2:3,456,852...3,476,068

G

TATA-box binding protein associated factor 3

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

NCBI chr 2:9,919,363...10,053,420
Ensembl chr 2:9,919,363...10,053,407

G

transcription activation suppressor family member 2

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

NCBI chr13:3,615,905...3,661,108
Ensembl chr13:3,616,035...3,661,108

G

tRNA aspartic acid methyltransferase 1

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

NCBI chr 2:13,509,690...13,549,475
Ensembl chr 2:13,513,825...13,549,479

G

tubulin, alpha-like 3

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

NCBI chr13:3,974,695...3,985,277
Ensembl chr13:3,968,274...3,985,277

G

upper zone of growth plate and cartilage matrix associated

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

NCBI chr 2:4,980,933...4,990,559
Ensembl chr 2:4,980,933...4,990,559

G

urocortin 3

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

NCBI chr13:3,990,688...3,995,349
Ensembl chr13:3,990,688...3,995,349

G

UPF2 regulator of nonsense transcripts homolog (yeast)

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

NCBI chr 2:5,956,218...6,061,514
Ensembl chr 2:5,956,280...6,061,514

G

USP6 N-terminal like

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

NCBI chr 2:6,327,444...6,453,107
Ensembl chr 2:6,327,478...6,451,201

G

vimentin

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

NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637

Imerslund-Grasbeck Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnionless

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

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

NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860

G

calcium channel, voltage-dependent, beta 2 subunit

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719

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 chr12:111,259,406...111,347,985
Ensembl chr12:111,259,410...111,344,152

G

cubilin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

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

NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:14,031,642...14,060,846
Ensembl chr 2:13,855,093...14,060,847

G

solute carrier family 39 (zinc transporter), member 12

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:14,345,476...14,499,787
Ensembl chr 2:14,393,127...14,499,788

G

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

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:13,659,745...13,798,659
Ensembl chr 2:13,655,832...13,798,875

G

signal transducing adaptor molecule (SH3 domain and ITAM motif) 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:14,078,912...14,152,351
Ensembl chr 2:14,078,909...14,154,445

G

TNF receptor-associated factor 3

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr12:111,132,799...111,233,589
Ensembl chr12:111,132,804...111,233,587

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:13,509,690...13,549,475
Ensembl chr 2:13,513,825...13,549,479

G

vimentin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637

Imerslund-Grasbeck Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnionless

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

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

NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860

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 chr19:11,724,907...11,740,811
Ensembl chr19:11,724,918...11,740,811

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 chr12:111,259,406...111,347,985
Ensembl chr12:111,259,410...111,344,152

G

cubilin

ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.P1297L (human)

OMIM
ClinVar
CTD
RGD

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

NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624

Imerslund-Grasbeck Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnionless

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 chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860

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 chr12:111,259,406...111,347,985
Ensembl chr12:111,259,410...111,344,152

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 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:25741868 PMID:25810266 More...

NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627

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 chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701

G

interleukin 13

RGD

NCBI chr11:53,522,150...53,525,529
Ensembl chr11:53,522,151...53,525,529

G

interleukin 17A

Protein:increased expression:plasma (rat)

RGD

NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720

G

lectin, galactose binding, soluble 1

protein:decreased expression:glomerulus, podocytes (rat)

RGD

NCBI chr15:78,810,925...78,814,665
Ensembl chr15:78,810,925...78,814,665

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Lipoid nephrosis

PMID:23687361 PMID:32581362

NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620

G

nuclear receptor subfamily 3, group C, member 1

disease_progression

RGD

NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474

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 chr10:127,478,855...127,496,856
Ensembl chr10:127,478,855...127,496,826

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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461

G

angiopoietin 1

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr15:42,288,063...42,540,373
Ensembl chr15:42,288,119...42,540,373

G

angiopoietin 2

mRNA:increased expression:kidney (rat)

RGD

PMID:18929866 PMID:18929864

RGD:2314177, RGD:2314178

NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578

G

catalase

mRNA: decreased expression: glomerulus

RGD

NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505

G

C-C motif chemokine ligand 1

RGD

NCBI chr11:82,067,492...82,070,638
Ensembl chr11:82,067,483...82,196,516

G

C-C motif chemokine ligand 7

RGD

NCBI chr11:81,936,538...81,938,351
Ensembl chr11:81,936,538...81,938,351

G

CD36 molecule

RGD

NCBI chr 5:17,986,680...18,093,828
Ensembl chr 5:17,986,688...18,093,799

G

CD40 ligand

RGD

NCBI chr X:56,257,448...56,269,402
Ensembl chr X:56,257,503...56,269,402

G

CD59a antigen

resistance

RGD

NCBI chr 2:103,926,177...103,945,755
Ensembl chr 2:103,926,146...103,945,699

G

CD59b antigen

NCBI chr 2:103,900,127...103,920,619
Ensembl chr 2:103,896,142...103,921,534

G

complement component factor h

protein:altered expression:kidney:

RGD

NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945

G

cytochrome P450, family 11, subfamily a, polypeptide 1

mRNA:decreased expression

RGD

NCBI chr 9:57,905,307...57,934,314
Ensembl chr 9:57,913,694...57,934,306

G

cytochrome P450, family 27, subfamily b, polypeptide 1

RGD

NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875

G

cytochrome P450, family 3, subfamily a, polypeptide 13

CTD Direct Evidence: marker/mechanism

NCBI chr 5:137,891,195...137,923,872
Ensembl chr 5:137,891,194...137,919,881

G

DNA-damage inducible transcript 3

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

CTD
RGD

PMID:16400006 PMID:16400006

NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223

G

endothelin 1

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

CTD
RGD

PMID:7756592 PMID:9175058

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

endothelin receptor type B

CTD Direct Evidence: marker/mechanism

NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838

G

coagulation factor II

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18541230 PMID:18541230

NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759

G

GATA binding protein 3

HDR Syndrome/Barakat Syndrome, OMIM:146255

RGD

NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

G

glutathione peroxidase 1

RGD

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

G

hepatitis A virus cellular receptor 1

mRNA,protein:increased expression:kidney:

RGD

NCBI chr11:46,630,644...46,670,405
Ensembl chr11:46,625,907...46,670,405

G

heparanase

CTD Direct Evidence: marker/mechanism

NCBI chr 5:100,827,350...100,867,582
Ensembl chr 5:100,827,350...100,867,582

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113

G

interleukin 1 beta

RGD

NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

integrin beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542

G

laminin, beta 2

NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729

G

low density lipoprotein receptor-related protein 2

mRNA:decreased expression:glomerulus

RGD

NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409

G

nestin

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

CTD
RGD

PMID:16418842 PMID:17637254

NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758

G

nephrosis 2, podocin

CTD Direct Evidence: marker/mechanism

NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605

G

natriuretic peptide type A

protein:increased expression:plasma

RGD

NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536

G

natriuretic peptide type B

protein:increased expression:plasma

RGD

NCBI chr 4:148,070,264...148,071,662
Ensembl chr 4:148,070,245...148,071,662

G

podoplanin

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134

G

protein tyrosine phosphatase receptor type U

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 4:131,495,768...131,565,617
Ensembl chr 4:131,495,768...131,565,599

G

renin 1 structural

CTD Direct Evidence: marker/mechanism

PMID:2046802 PMID:6358456

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

G

superoxide dismutase 1, soluble

CTD Direct Evidence: therapeutic

NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217

G

sterol regulatory element binding factor 2

protein:altered localization:nucleus

RGD

NCBI chr15:82,031,455...82,089,580
Ensembl chr15:82,031,382...82,089,580

G

steroidogenic acute regulatory protein

mRNA:decreased expression:ovary

RGD

NCBI chr 8:26,298,502...26,306,010
Ensembl chr 8:26,296,583...26,306,010

G

vimentin

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

CTD
RGD

PMID:16418842 PMID:16418842

NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637

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 6:121,612,920...121,656,197
Ensembl chr 6:121,612,335...121,656,186

G

acetyl-Coenzyme A acetyltransferase 1

protein:increased expression:kidney (rat)

RGD

NCBI chr 9:53,491,822...53,521,650
Ensembl chr 9:53,491,822...53,521,682

G

angiotensin I converting enzyme

treatment

protein:increased activity:multiple

RGD

PMID:2175683 PMID:15942045

RGD:11038913, RGD:1598707

NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790

G

actinin alpha 4

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765

G

alanine-glyoxylate aminotransferase

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 1:93,062,962...93,073,143
Ensembl chr 1:93,062,962...93,073,143

G

albumin

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:1556257 PMID:17178036 PMID:22203175

NCBI chr 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461

G

ALMS1, centrosome and basal body associated

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735

G

arachidonate 5-lipoxygenase

RGD

NCBI chr 6:116,387,030...116,438,139
Ensembl chr 6:116,387,038...116,438,139

G

anillin, actin binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 9:22,243,305...22,302,132
Ensembl chr 9:22,243,308...22,300,484

G

apolipoprotein A-I

RGD

NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764

G

apolipoprotein B

protein:increased expression:serum (rat)

RGD

NCBI chr12:8,027,629...8,066,839
Ensembl chr12:8,027,648...8,066,835

G

apolipoprotein C2

protein:increased expression:serum

RGD

NCBI chr 7:19,405,504...19,411,866
Ensembl chr 7:19,405,504...19,411,866

G

apolipoprotein C-III

protein:increased expression:serum

RGD

NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934

G

apolipoprotein E

protein:increased expression:serum (human)

RGD

NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 5:102,355,043...103,053,743
Ensembl chr 5:102,629,257...103,045,803

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 chr11:120,468,925...120,472,450
Ensembl chr11:120,468,930...120,472,450

G

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

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:71,596,315...71,618,562
Ensembl chr 1:71,596,309...71,618,790

G

advillin

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr10:126,835,933...126,856,857
Ensembl chr10:126,836,578...126,856,863

G

axonemal dynein light chain domain containing 1

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

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

NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729

G

bone gamma carboxyglutamate protein

protein:decreased expression:serum

RGD

NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771

G

CD2 antigen

CTD Direct Evidence: marker/mechanism

NCBI chr 3:101,183,224...101,195,255
Ensembl chr 3:101,183,215...101,195,255

G

cyclin dependent kinase 20

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29127259

NCBI chr13:64,580,133...64,587,536
Ensembl chr13:64,580,128...64,589,587

G

complement component factor i

disease_progression

RGD

NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981

G

cofilin 1, non-muscle

treatment

RGD

NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229

G

chloride channel, voltage-sensitive 5

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr X:7,020,049...7,185,597
Ensembl chr X:7,020,049...7,185,597

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:19008299 PMID:25741868 PMID:29127259

NCBI chr11:113,540,004...113,560,157
Ensembl chr11:113,539,995...113,557,880

G

collagen, type I, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

collagen, type IV, alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826

G

collagen, type IV, alpha 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287

G

collagen, type IV, alpha 3

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780

G

collagen, type IV, alpha 4

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570

G

collagen, type IV, alpha 5

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230

G

coenzyme Q2 4-hydroxybenzoate polyprenyltransferase

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 5:100,802,589...100,822,154
Ensembl chr 5:100,802,589...100,823,006

G

coenzyme Q8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33532864

NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375

G

carboxypeptidase B2

protein:increased activity,increased expression:plasma

RGD

NCBI chr14:75,479,727...75,520,995
Ensembl chr14:75,479,727...75,520,995

G

cystinosis, nephropathic

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr11:73,073,959...73,089,869
Ensembl chr11:73,074,422...73,089,868

G

cathepsin L

mRNA, protein:increased expression:glomerulus (rat)

RGD

NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704

G

dopa decarboxylase

protein:decreased activity:renal cortex (rat)

RGD

NCBI chr11:11,764,101...11,848,144
Ensembl chr11:11,764,101...11,848,144

G

diacylglycerol O-acyltransferase 1

mRNA,protein:increased expression:liver:

RGD

NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153

G

diacylglycerol kinase, epsilon

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28492532 PMID:29127259

NCBI chr 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603

G

endothelin converting enzyme 1

mRNA,protein:increased expression:kidney:

RGD

NCBI chr 4:137,589,548...137,692,540
Ensembl chr 4:137,589,548...137,692,540

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466

G

endothelin receptor type A

mRNA:increased expression:Glomerulus

RGD

NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093

G

erythropoietin

treatment

RGD

NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504

G

coagulation factor III

CTD Direct Evidence: marker/mechanism

NCBI chr 3:121,517,186...121,528,701
Ensembl chr 3:121,517,186...121,528,697

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Nephrotic syndrome

MouseDO
ClinVar

PMID:25741868 PMID:26905694 PMID:28492532

NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257

G

fibronectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359

G

galactosidase, alpha

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr X:133,488,912...133,501,707
Ensembl chr X:133,488,898...133,501,874

G

glycoprotein 1b, alpha polypeptide

protein: reduced expression: :

RGD

NCBI chr11:70,529,928...70,534,812
Ensembl chr11:70,529,948...70,532,862

G

glycerol-3-phosphate acyltransferase, mitochondrial

RGD

NCBI chr19:55,056,067...55,115,666
Ensembl chr19:55,055,700...55,115,670

G

glypican 5

CTD Direct Evidence: therapeutic

NCBI chr14:115,329,640...116,762,604
Ensembl chr14:115,329,647...116,762,591

G

glutathione peroxidase 1

mRNA:increased expression:kidney

RGD

NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542

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 chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203

G

glutathione peroxidase 4

mRNA:decreased expression:kidney

RGD

NCBI chr10:79,883,000...79,892,273
Ensembl chr10:79,883,000...79,892,273

G

guanylate cyclase activator 2b

CTD Direct Evidence: marker/mechanism

NCBI chr 4:119,513,798...119,516,142
Ensembl chr 4:119,513,804...119,516,151

G

histocompatibility 2, class II antigen E beta

CTD Direct Evidence: marker/mechanism

PMID:6420562 PMID:11095018

NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:106,245,378...106,250,620
Ensembl chr 8:106,245,387...106,250,620

G

insulin-like growth factor binding protein, acid labile subunit

RGD

NCBI chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984

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 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059

G

interleukin 1 receptor antagonist

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

RGD

NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108

G

interleukin 4

treatment

RGD

NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496

G

interleukin 5

RGD

NCBI chr11:53,611,621...53,615,930
Ensembl chr11:53,611,621...53,615,933

G

inverted formin, FH2 and WH2 domain containing

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29127259

NCBI chr12:112,555,121...112,581,991
Ensembl chr12:112,555,218...112,581,991

G

integrin alpha 3

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:22512483 PMID:29127259

NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627

G

integrin beta 4

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532

NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238

G

intersectin 1 (SH3 domain protein 1A)

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29773874

NCBI chr16:91,526,198...91,717,479
Ensembl chr16:91,526,169...91,717,485

G

intersectin 2

NCBI chr12:4,642,792...4,763,952
Ensembl chr12:4,642,638...4,763,962

G

Janus kinase 2

RGD

NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480

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 4:98,643,129...98,706,295
Ensembl chr 4:98,643,135...98,705,774

G

potassium inwardly-rectifying channel, subfamily J, member 1

RGD

NCBI chr 9:32,283,714...32,310,493
Ensembl chr 9:32,283,789...32,310,493

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 7:30,146,955...30,160,105
Ensembl chr 7:30,146,959...30,157,115

G

laminin, alpha 5

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652

G

laminin, beta 2

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729

G

lipase, hepatic

protein, mRNA:reduced expression:liver (rat)

RGD

NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508

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 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620

G

Apex1 promoter region

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28805828 PMID:29127259

NCBI chr14:51,162,126...51,162,598

G

matrix metallopeptidase 1a (interstitial collagenase)

CTD Direct Evidence: marker/mechanism

NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857

G

MpV17 mitochondrial inner membrane protein

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

NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595

G

myosin, heavy polypeptide 9, non-muscle

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375

G

myosin IE

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29127259

NCBI chr 9:70,114,632...70,307,349
Ensembl chr 9:70,114,632...70,307,048

G

non-catalytic region of tyrosine kinase adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 9:100,376,047...100,428,187
Ensembl chr 9:100,374,346...100,428,187

G

non-catalytic region of tyrosine kinase adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:43,484,643...43,609,678
Ensembl chr 1:43,483,739...43,609,675

G

nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha

exacerbates

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

RGD

NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432

G

NOC3 like DNA replication regulator

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr19:38,776,565...38,808,754
Ensembl chr19:38,776,572...38,807,681

G

nitric oxide synthase 1, neuronal

protein:decreased expression:kidney

RGD

NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905

G

nephrosis 1, 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 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648

G

nephrosis 2, podocin

treatment

ClinVar Annotator: match by term: Nephrotic range proteinuria | ClinVar Annotator: match by term: Nephrotic syndrome
OMIM:256300 | OMIM:256370 | OMIM:600995 | OMIM:610725 | OMIM:614196 | OMIM:614199 | OMIM:615008 | OMIM:615244 | OMIM:615573 | OMIM:615861
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
RGD

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

NCBI chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605

G

nuclear receptor subfamily 3, group C, member 1

treatment

RGD

NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474

G

nucleoporin 93

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr14:51,152,831...51,162,350
Ensembl chr14:51,143,935...51,162,350

G

paired box 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310

G

prenyl (solanesyl) diphosphate synthase, subunit 2

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878

G

phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)

protein:increased activity:plasma

RGD

PMID:15292677 PMID:8692015

RGD:7248795, RGD:7257517

NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092

G

phospholipase C, epsilon 1

onset

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

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

NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474

G

podocalyxin-like

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29244787 PMID:30523047

NCBI chr 6:31,496,428...31,540,872
Ensembl chr 6:31,496,423...31,540,916

G

peroxisome proliferative activated receptor, gamma, coactivator 1 alpha

protein:decreased expression:kidney cortex (rat)

RGD

NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068

G

prostaglandin-endoperoxide synthase 2

RGD

NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978

G

renin 1 structural

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063

G

runt related transcription factor 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684

G

sodium channel, nonvoltage-gated 1 alpha

RGD

NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906

G

sodium channel, nonvoltage-gated 1 beta

RGD

NCBI chr 7:121,464,261...121,517,951
Ensembl chr 7:121,464,261...121,517,737

G

serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11304663 PMID:7532794 PMID:8979144

RGD:11035294, RGD:11038563

NCBI chr 1:160,806,153...160,830,113
Ensembl chr 1:160,806,155...160,833,433

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

sphingosine phosphate lyase 1

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr10:60,934,421...60,983,463
Ensembl chr10:60,934,421...60,983,482

G

solute carrier family 35, member F1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr10:52,566,597...52,987,718
Ensembl chr10:52,566,629...52,987,718

G

SMAD family member 1

RGD

NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147

G

SNF2 related chromatin remodeling ATPase like 1

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293

G

sterol O-acyltransferase 1

RGD

NCBI chr 1:156,255,678...156,301,898
Ensembl chr 1:156,252,095...156,301,901

G

sterol O-acyltransferase 2

mRNA, protein:increased expression:liver

RGD

NCBI chr15:102,058,853...102,071,871
Ensembl chr15:102,058,961...102,071,904

G

superoxide dismutase 2, mitochondrial

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9152291 PMID:9152291

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

G

synaptopodin

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33615071

NCBI chr18:60,727,053...60,793,241
Ensembl chr18:60,727,045...60,793,214

G

TBC1 domain family, member 8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:31732614

NCBI chr X:138,585,730...138,654,970
Ensembl chr X:138,585,745...138,654,154

G

tissue factor pathway inhibitor

protein:increased expression:plasma

RGD

NCBI chr 2:84,263,199...84,307,119
Ensembl chr 2:84,263,199...84,307,119

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

PMID:1281619 PMID:8023968 PMID:10515446

NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502

G

tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)

protein:decreased expression:serum

RGD

NCBI chr15:54,114,014...54,141,700
Ensembl chr15:54,114,015...54,141,880

G

tensin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29773874

NCBI chr15:102,006,910...102,024,836
Ensembl chr15:102,008,848...102,024,836

G

Tp53rk binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28805828 PMID:29127259

NCBI chr 6:85,888,842...85,907,266
Ensembl chr 6:85,888,847...85,907,266

G

transferrin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643

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 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742

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 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961

G

very low density lipoprotein receptor

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

RGD

NCBI chr19:27,190,070...27,231,631
Ensembl chr19:27,193,884...27,231,631

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 7:80,540,471...80,551,017
Ensembl chr 7:80,540,471...80,551,017

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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961

nephrotic syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP-binding cassette, sub-family C member 6

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:12384774 PMID:25741868 PMID:28492532

NCBI chr 7:45,625,804...45,679,915
Ensembl chr 7:45,616,979...45,679,726

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 chr16:5,051,410...5,062,773
Ensembl chr16:5,051,485...5,062,776

G

Rho GDP dissociation inhibitor alpha

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr11:120,468,925...120,472,450
Ensembl chr11:120,468,930...120,472,450

G

axonemal dynein light chain domain containing 1

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

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

NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729

G

C-C motif chemokine ligand 11

RGD

NCBI chr11:81,948,658...81,953,781
Ensembl chr11:81,948,649...81,953,781

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294

G

kirre like nephrin family adhesion molecule 2

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

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

NCBI chr 7:30,146,955...30,160,105
Ensembl chr 7:30,146,959...30,157,115

G

nephrosis 1, nephrin

DNA:mutations:multiple (human)

RGD

NCBI chr 7:30,157,259...30,188,048
Ensembl chr 7:30,157,740...30,186,648

G

nephrosis 2, 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 chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474

G

protein S (alpha)

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1

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

NCBI chr16:62,674,670...62,749,709
Ensembl chr16:62,674,670...62,749,709

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 chr18:43,861,134...43,870,302
Ensembl chr18:43,861,147...43,870,622

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 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961

G

WT1 transcription factor

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:22099579 PMID:25741868 PMID:27719739

NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961

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 chr16:10,099,613...10,131,832
Ensembl chr16:10,099,613...10,131,832

nephrotic syndrome type 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 107

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

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

NCBI chr10:117,586,526...117,628,607
Ensembl chr10:117,586,526...117,628,610

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 2:172,709,805...172,782,114
Ensembl chr 2:172,709,805...172,782,114

G

nucleoporin 93

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

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

NCBI chr 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855

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 6:35,154,551...35,224,534
Ensembl chr 6:35,154,356...35,224,531

nephrotic syndrome type 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sphingosine 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 chr10:60,934,421...60,983,463
Ensembl chr10:60,934,421...60,983,482

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:28492532 More...

NCBI chr 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790

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:25741868 PMID:25961457 PMID:28492532

NCBI chr 9:21,678,069...21,709,842
Ensembl chr 9:21,678,080...21,710,040

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 chr11:115,475,081...115,495,501
Ensembl chr11:115,475,081...115,494,877

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 chr11:115,455,264...115,474,750
Ensembl chr11:115,455,260...115,474,811

nephrotic syndrome type 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 133

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

PMID:25741868 PMID:28492532 PMID:30179222

NCBI chr 8:124,623,862...124,676,019
Ensembl chr 8:124,623,862...124,676,004

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 2:90,504,405...90,570,217
Ensembl chr 2:90,507,559...90,566,672

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 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043

G

advillin

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

PMID:25741868 PMID:29058690

NCBI chr10:126,835,933...126,856,857
Ensembl chr10:126,836,578...126,856,863

G

axonemal dynein light chain domain containing 1

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

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

NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729

G

collagen, type IV, alpha 3

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

NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780

G

collagen, type IV, alpha 4

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

PMID:25741868 PMID:28492532

NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570

G

collagen, type IV, alpha 5

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

NCBI chr X:140,258,367...140,472,232
Ensembl chr X:140,258,381...140,472,230

G

crumbs family member 2

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

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

NCBI chr 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115

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 chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294

G

nephrosis 2, 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 chr 1:156,138,105...156,155,605
Ensembl chr 1:156,138,297...156,155,605

G

nuclear receptor subfamily 3, group C, member 1

mRNA:alternative form:blood, mononuclear cell

RGD

NCBI chr18:39,543,598...39,652,485
Ensembl chr18:39,543,598...39,652,474

G

nucleoporin 205

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,154,551...35,224,534
Ensembl chr 6:35,154,356...35,224,531

G

nucleoporin 93

CTD Direct Evidence: marker/mechanism

NCBI chr 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855

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 chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310

G

phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)

disease_progression

RGD

NCBI chr17:43,879,009...43,923,093
Ensembl chr17:43,878,989...43,923,092

G

phospholipase C, epsilon 1

DNA:mutations: :

RGD

NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474

G

SNF2 related chromatin remodeling ATPase like 1

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

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

NCBI chr 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293

G

transient receptor potential cation channel, subfamily C, member 6

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

RGD

NCBI chr 9:8,543,868...8,680,753
Ensembl chr 9:8,544,143...8,680,742

G

Ts translation elongation factor, mitochondrial

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

PMID:25741868 PMID:29058690

NCBI chr10:126,858,201...126,866,683
Ensembl chr10:126,847,441...126,866,709

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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961

G

exportin 5

CTD Direct Evidence: marker/mechanism

NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524

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:138,585,730...138,654,970
Ensembl chr X:138,585,745...138,654,154

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 chr10:126,835,933...126,856,857
Ensembl chr10:126,836,578...126,856,863

G

Ts translation elongation factor, mitochondrial

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

PMID:25741868 PMID:29058690

NCBI chr10:126,858,201...126,866,683
Ensembl chr10:126,847,441...126,866,709

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 (neuronal) 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 chr 1:170,143,039...170,417,371
Ensembl chr 1:170,130,237...170,417,430

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 3:86,985,900...87,082,084
Ensembl chr 3:86,985,900...87,082,054

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 chr17:49,763,050...49,871,517
Ensembl chr17:49,763,050...49,871,371

Nephrotic Syndrome Type 26

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

laminin, 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 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652

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 chr19:38,776,565...38,808,754
Ensembl chr19:38,776,572...38,807,681

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

NCBI chr19:38,469,438...38,773,549
Ensembl chr19:38,469,557...38,773,474

nephrotic syndrome type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wt1 promoter region

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

PMID:15266301 PMID:18559874 PMID:18591546 PMID:18644976 PMID:19171881 More...

NCBI chr 2:104,956,361...104,957,127

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 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961

nephrotic syndrome type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cystathionine beta-synthase

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

PMID:8353501 PMID:16479318 PMID:22267502 PMID:24211323 PMID:25218699 More...

NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212

G

laminin, 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 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729

G

protein phosphatase 2, regulatory subunit B', delta

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

PMID:25741868 PMID:30676711 PMID:32295525

NCBI chr17:46,993,917...47,015,952
Ensembl chr17:46,993,917...47,016,037

G

serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), 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 chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703

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:28492532

NCBI chr 6:137,229,189...137,440,251
Ensembl chr 6:137,229,317...137,440,231

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 chr11:88,926,005...88,951,644
Ensembl chr11:88,926,005...88,957,676

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 chr11:120,468,925...120,472,450
Ensembl chr11:120,468,930...120,472,450

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:17576681 PMID:24270420 PMID:25741868 PMID:28204945 More...

NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement component 3

protein:increased processing:erythrocyte

RGD

NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136

G

C-X-C motif chemokine receptor 4

treatment

RGD

NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030

G

histocompatibility 2, class II antigen A, alpha

DNA:polymorphism, haplotype

RGD

NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797

G

histocompatibility 2, class II antigen A, beta 1

DNA:polymorphism, haplotype

RGD

NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393