proteinuria - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	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 (587) Mouse (394) Human (8279) Chinchilla (358) Bonobo (381) Dog (381) Squirrel (361) Pig (376) Green Monkey (375) Naked Mole-rat (358) All
Genes (408) QTL (93) Strains (86)

proteinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

severity
treatment

associated with Henoch-Schoenlein purpura;DNA:deletion:intron:IVS16+1464- 1751del (human)
associated with Acute Kidney Injury

RGD

PMID:10193250 PMID:10844603

RGD:11038828, RGD:12879396

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

adducin 2

RGD

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

G

adducin 3

RGD

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

G

advanced glycosylation end product-specific receptor

susceptibility

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

RGD

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

CTD Direct Evidence: marker/mechanism|therapeutic

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

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

angiotensin II receptor, type 1a

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

CTD
RGD

PMID:17021606 PMID:20042458

NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946

G

albumin

associated with hypertension
CTD Direct Evidence: marker/mechanism

CTD
RGD

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

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

arachidonate 5-lipoxygenase activating protein

CTD Direct Evidence: marker/mechanism

NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986

G

ankyrin repeat and sterile alpha motif domain containing 6

RGD

NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596

G

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

RGD

G

apolipoprotein E

CTD Direct Evidence: marker/mechanism

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Proteinuria

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

G

beta-2 microglobulin

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

CTD
RGD

PMID:33857584 PMID:17634209

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

complement C6

associated with Glomerulonephritis

RGD

NCBI chr 2:53,846,028...53,921,279
Ensembl chr 2:53,851,985...53,921,275

G

CD55 molecule (Cromer blood group)

RGD

NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831

G

CD8 subunit alpha

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

RGD

NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040

G

complement factor H

protein:altered expression:kidney:

RGD

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

chloride voltage-gated channel 5

CTD Direct Evidence: marker/mechanism

NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264

G

chloride voltage-gated channel Kb

ClinVar Annotator: match by term: Proteinuria

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

NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153

G

clusterin

treatment

RGD

NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532 PMID:30586318

NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 5 chain

onset

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:34675305

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

Col4a5^em1Matsu

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

onset

RGD

G

Col4a5^em2Matsu

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

onset

RGD

G

Col4a5^em3Matsu

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

onset

RGD

G

cathepsin B

CTD Direct Evidence: marker/mechanism

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

cathepsin L

CTD Direct Evidence: marker/mechanism

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

C-X-C motif chemokine ligand 10

RGD

NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975

G

cytochrome b-245 beta chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586

G

deoxyribonuclease 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869

G

dipeptidylpeptidase 4

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901

G

coagulation factor VII

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

RGD

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

Fas cell surface death receptor

CTD Direct Evidence: marker/mechanism

PMID:26590112 PMID:33632240 PMID:36999444

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

glucuronidase, beta

CTD Direct Evidence: marker/mechanism

NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905

G

hepatitis A virus cellular receptor 1

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

CTD
RGD

PMID:19225054 PMID:16467126

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

G

hypoxia inducible factor 1 subunit alpha

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

RGD

NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261

G

HR, lysine demethylase and nuclear receptor corepressor

RGD

NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313

G

intercellular adhesion molecule 1

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

RGD

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interferon beta 1

ameliorates

associated with nephritis, Puromycin Aminonucleoside Nephrosis

RGD

NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523

G

interferon gamma

CTD Direct Evidence: marker/mechanism

PMID:3091246 PMID:8289579

NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375

G

interleukin 1 receptor antagonist

associated with Glomerulonephritis, IGA; DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)
CTD Direct Evidence: therapeutic

CTD
RGD

PMID:9370186 PMID:12138282

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 6

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

RGD

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

inverted formin 2

ClinVar Annotator: match by term: Proteinuria

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

NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941

G

laminin subunit beta 2

RGD

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

leptin

CTD Direct Evidence: marker/mechanism

NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262

G

leptin receptor

sexual_dimorphism

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

CTD
RGD

PMID:36066211 PMID:20159938 PMID:27465994

RGD:7365117, RGD:12911217

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

leptin receptor; zinc finger nuclease induced mutant 2, Medical College of Wisconsin

compared to SS/JrHsdMcwi

RGD

G

leptin receptor; fa mutant

sexual_dimorphism

compared to BN

RGD

G

LIM homeobox transcription factor 1 beta

CTD Direct Evidence: marker/mechanism

PMID:19147669 PMID:20199424

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

G

alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase

RGD

NCBI chr13:38,675,776...38,959,697
Ensembl chr13:38,676,119...38,959,513

G

matrix metallopeptidase 2

ameliorates

associated with Experimental Diabetes Mellitus;

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

matrix metallopeptidase 2; zinc finger nuclease induced mutant 2, Medical College of Wisconsin

ameliorates

associated with Experimental Diabetes Mellitus;

RGD

G

mitochondrial inner membrane protein MPV17

CTD Direct Evidence: marker/mechanism

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

G

mucin 16, cell surface associated

CTD Direct Evidence: marker/mechanism

NCBI chr 8:16,164,531...16,323,126

G

myosin, heavy chain 9

disease_progression

associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human)
ClinVar Annotator: match by term: Proteinuria
associated with anemia, sickle cell:DNA:SNPs: :

PMID:25741868 PMID:28492532 PMID:20200500 PMID:21910715

RGD:6903242, RGD:6903258

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

neutrophil cytosolic factor 2

ameliorates

compared to wild-type littermates

RGD

PMID:22326221 PMID:22326221

RGD:9587793, RGD:9587793

NCBI chr13:64,955,622...64,986,144
Ensembl chr13:64,955,503...64,986,277

G

neutrophil cytosolic factor 2; zinc finger nuclease induced mutant 1,Mcwi

ameliorates

compared to wild-type littermates

RGD

PMID:22326221 PMID:22326221

RGD:9587793, RGD:9587793

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307

G

NCK-associated protein 5

RGD

NCBI chr13:37,369,948...38,283,257
Ensembl chr13:37,370,792...38,283,268

G

NPHS1 adhesion molecule, nephrin

RGD

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Proteinuria

PMID:11805166 PMID:11854170 PMID:12464671 PMID:14675423 PMID:14978175 More...

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

G

natriuretic peptide B

RGD

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

nuclear receptor subfamily 4, group A, member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297

G

optineurin

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

RGD

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

G

p21 (RAC1) activated kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:152,111,172...152,226,390
Ensembl chr 1:152,111,188...152,226,383

G

p21 (RAC1) activated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Proteinuria

NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128

G

phospholipase A2 group VII

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

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664

G

paraoxonase 1

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

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

peroxisome proliferator activated receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346

G

proteasome activator subunit 2, pseudogene 1

RGD

NCBI chr13:38,189,375...38,190,347

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

RAB38, member RAS oncogene family

RGD

NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924

G

renin

CTD Direct Evidence: marker/mechanism

PMID:464098 PMID:2046802

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

ras homolog family member A

CTD Direct Evidence: marker/mechanism

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

RT1 class II, locus Ba

CTD Direct Evidence: marker/mechanism

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Db1

CTD Direct Evidence: marker/mechanism

PMID:6420562 PMID:11436868

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

sodium channel epithelial 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

G

syndecan 1

mRNA, protein:increased expression:glomerulus

RGD

NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264

G

serpin family A member 1

protein:increased expression:urine

RGD

NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339

G

solute carrier family 9 member A1

RGD

NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624

G

small nuclear ribonucleoprotein D1 polypeptide

associated with Lupus Erythematosus, Systemic in a mouse model

RGD

NCBI chr18:1,696,838...1,707,400
Ensembl chr18:1,696,852...1,708,256

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

sortilin-related VPS10 domain containing receptor 1

associated with hypertension

RGD

NCBI chr 1:249,080,662...249,594,520
Ensembl chr 1:249,081,355...249,594,507

G

sortilin-related VPS10 domain containing receptor 1; zinc finger nuclease induced mutant 1, Medical College of Wisconsin

associated with hypertension

RGD

G

secreted phosphoprotein 1

CTD Direct Evidence: marker/mechanism

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

transforming growth factor, beta 1

ameliorates

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:12937228 PMID:23249995

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

toll-like receptor 9

associated with Lupus Erythematosus, Systemic
associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human)

RGD

PMID:23467932 PMID:22787315

RGD:7245987, RGD:7245989

NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796

G

transmembrane protein 163

RGD

NCBI chr13:38,967,913...39,141,664
Ensembl chr13:38,968,101...39,141,452

G

transmembrane protein 67

compared to RGD:14995941

RGD

NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334

G

transmembrane protein 67; wpk mutant

compared to RGD:14995941

RGD

G

transient receptor potential cation channel, subfamily C, member 6

mRNA:increased expression:glomerular podocytes (rat)

RGD

PMID:23385000 PMID:31784544

RGD:7247440, RGD:155882534

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

G

tubulin, alpha 1C, pseudogene 1

RGD

NCBI chr13:38,507,496...38,508,836
Ensembl chr13:38,507,401...38,508,943
Ensembl chr13:38,507,401...38,508,943

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641

G

vitronectin

associated with Mesangial Proliferative Glomerulonephritis

RGD

NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810

G

WT1 transcription factor

ClinVar Annotator: match by term: Proteinuria

PMID:25741868 PMID:28492532

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

G

zinc finger E-box binding homeobox 2

mRNA:increased expression:glomerular podocytes (rat)

RGD

NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157

Albuminuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

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

CTD
RGD

PMID:23733546 PMID:1336356 PMID:16902320

RGD:7829770, RGD:12879427

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

adrenomedullin

associated with Hypertension

RGD

NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654

G

advanced glycosylation end product-specific receptor

treatment

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

RGD

PMID:21607631 PMID:21796806 PMID:20627935

RGD:7243944, RGD:7244184, RGD:7244135

NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

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

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

aldo-keto reductase family 1 member B1

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

RGD

NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157

G

albumin

associated with Diabetes Mellitus, Insulin-Dependent
associated with hypertension

RGD

PMID:19414946 PMID:15102963

RGD:2306884, RGD:1601157

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

arachidonate 12-lipoxygenase, 12S type

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

RGD

NCBI chr10:54,958,263...54,970,542
Ensembl chr10:54,958,271...54,970,542

G

beta-2 microglobulin

associated with HIV infections;protein:increased expression:urine

RGD

NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766

G

caspase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383

G

calcium-sensing receptor

associated with Uremia

RGD

NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811

G

C-C motif chemokine ligand 4

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

RGD

NCBI chr10:68,466,394...68,468,229
Ensembl chr10:68,452,052...68,468,231

G

CD38 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986

G

class II, major histocompatibility complex, transactivator

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

RGD

NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075

G

C-reactive protein

severity

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

RGD

PMID:20710104 PMID:20016210

RGD:6907441, RGD:6909147

NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178

G

colony stimulating factor 1

treatment

associated with Hypercholesterolemia and Diabetes Mellitus, Experimental

RGD

NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704

G

cystatin C

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

RGD

NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822

G

cathepsin B

associated with Hypertension

RGD

NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500

G

cathepsin L

associated with Hypertension

RGD

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

cytochrome P450, family 11, subfamily b, polypeptide 2

RGD

NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004

G

dopamine receptor D1

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

RGD

NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002

G

endothelin 1

protein:increased expression:renal papilla (rat)

RGD

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

erythropoietin

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

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

coagulation factor VII

no_association
severity

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

RGD

PMID:8458188 PMID:8250495 PMID:9187410

RGD:2312410, RGD:2312407, RGD:2312406

NCBI chr16:76,489,775...76,500,636
Ensembl chr16:76,489,717...76,500,610

G

fibrillin 1

associated with Hypertension

RGD

NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889

G

gamma-glutamyltransferase 1

associated with Diabetes Mellitus; protein:increased activity:serum

RGD

NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442

G

G protein subunit alpha q

CTD Direct Evidence: marker/mechanism

NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672

G

glypican 5

CTD Direct Evidence: therapeutic

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

G

hepatitis A virus cellular receptor 1

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

RGD

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

G

insulin-like growth factor 1

susceptibility

RGD

NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 6

CTD Direct Evidence: marker/mechanism

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

insulin 2

CTD Direct Evidence: marker/mechanism

PMID:9861226 PMID:29420703

NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775

G

leptin receptor

CTD Direct Evidence: marker/mechanism

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

NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908

G

lipase C, hepatic type

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

RGD

NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464

G

LDL receptor related protein 2

RGD

NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708

G

microRNA 130a

CTD Direct Evidence: marker/mechanism

NCBI chr 3:69,822,542...69,822,629
Ensembl chr 3:69,822,542...69,822,629

G

microRNA 145

CTD Direct Evidence: marker/mechanism

NCBI chr18:55,099,640...55,099,727
Ensembl chr18:55,099,640...55,099,727

G

microRNA 155

CTD Direct Evidence: marker/mechanism

NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718

G

microRNA 322

CTD Direct Evidence: marker/mechanism

NCBI chr X:132,806,594...132,806,688
Ensembl chr X:132,806,594...132,806,688

G

matrix metallopeptidase 9

onset

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

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

methylenetetrahydrofolate reductase

susceptibility

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

RGD

NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797

G

myosin, heavy chain 9

associated with hypertension;DNA:SNPs: :

RGD

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism

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

G

nuclear receptor subfamily 4, group A, member 1

compared to FHH

RGD

NCBI chr 7:132,368,399...132,389,300
Ensembl chr 7:132,374,840...132,389,297

G

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

compared to FHH

RGD

G

podoplanin

RGD

NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656

G

paraoxonase 1

DNA:polymorphisms:promoter, cds (human)

RGD

NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360

G

PPARG coactivator 1 alpha

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

RGD

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

parathyroid hormone

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

RGD

NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530

G

PYD and CARD domain containing

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955

G

RAB38, member RAS oncogene family

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

RGD

PMID:15758045 PMID:23291471

RGD:1357409, RGD:13782139

NCBI chr 1:142,182,566...142,262,923
Ensembl chr 1:142,182,556...142,262,924

G

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

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

RGD

G

recombination activating 1

RGD

NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291

G

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

as compare to o.4% NaCl diet

RGD

G

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

RGD

G

renin

CTD Direct Evidence: marker/mechanism

PMID:12414515 PMID:18679781

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

resistin

associated with Hypertension;protein:increased expression:blood

RGD

NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620

G

serpin family E member 1

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

RGD

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

serpin family F member 1

treatment

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

RGD

NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646

G

SH2B adaptor protein 3

RGD

NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616

G

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

RGD

G

SHC adaptor protein 1

ameliorates

RGD

NCBI chr 2:174,837,937...174,849,538
Ensembl chr 2:174,837,930...174,849,536

G

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

ameliorates

RGD

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

secreted phosphoprotein 1

RGD

NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162

G

transmembrane protein 63c

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

RGD

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

G

tumor necrosis factor

CTD Direct Evidence: marker/mechanism

NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629

G

transient receptor potential cation channel, subfamily C, member 3

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

RGD

NCBI chr 2:119,481,313...119,619,333
Ensembl chr 2:119,481,400...119,558,855

G

transient receptor potential cation channel, subfamily C, member 5

RGD

NCBI chr X:107,946,163...108,230,991
Ensembl chr X:107,939,131...108,230,991

G

transient receptor potential cation channel, subfamily C, member 6

associated with Hypertension;mRNA:decreased expression:kidney cortex

RGD

PMID:21839714 PMID:19887786

RGD:7247445, RGD:7247603

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

G

thymic stromal lymphopoietin

CTD Direct Evidence: marker/mechanism

NCBI chr18:24,447,409...24,454,244
Ensembl chr18:24,449,844...24,453,548

G

vascular cell adhesion molecule 1

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

RGD

NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958

Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dyskerin pseudouridine synthase 1

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

Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NOP10 ribonucleoprotein

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

NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942

CD59 Deficiency

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CD59b molecule

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

OMIM
ClinVar
CTD

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

NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847

Chronic Benign Proteinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cubilin

ClinVar Annotator: match by term: Proteinuria, chronic benign

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

NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231

Congenital Nephrotic Syndrome with or without Ocular Abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 1

protein:decreased activity:kidney (mouse)

RGD

NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097

Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aspartoacylase

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

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

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

G

cystinosin, lysosomal cystine transporter

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

OMIM
ClinVar
CTD

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

NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120

G

sedoheptulokinase

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

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

NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980

G

Tax1 binding protein 3

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

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

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

G

transient receptor potential cation channel, subfamily V, member 1

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

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

NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513

G

transient receptor potential cation channel, subfamily V, member 3

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

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

NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296

Diffuse Mesangial Sclerosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Diffuse mesangial sclerosis

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

NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876

G

laminin subunit beta 2

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

PMID:15367484 PMID:25741868 PMID:28492532

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

phospholipase C, epsilon 1

DNA:mutations: :

RGD

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

WT1 transcription factor

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

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

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

Donnai-Barrow syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

LMBR1 domain containing 1

ClinVar Annotator: match by term: Donnai-Barrow syndrome

PMID:19136951 PMID:25741868 PMID:28492532

NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090

G

LDL receptor related protein 2

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

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708

familial nephrotic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Hereditary nephrotic syndrome

PMID:8589695 PMID:10742096 PMID:11805166 PMID:14978175 PMID:15253708 More...

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

G

kirre like nephrin family adhesion molecule 2

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

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

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

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: Hereditary nephrotic syndrome

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

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

Galloway-Mowat syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GON7 subunit of KEOPS complex

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:31481669

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

G

L antigen family, member 3

CTD Direct Evidence: marker/mechanism

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

G

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

G

Tp53 tumor protein p53 regulating kinase A

CTD Direct Evidence: marker/mechanism

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

G

Tp53rk binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901

G

WD repeat domain 4

ClinVar Annotator: match by term: Galloway-Mowat syndrome

PMID:25741868 PMID:30079490

NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581

G

WD repeat domain 73

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

PMID:25466283 PMID:25741868

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

G

zinc finger protein 592

CTD Direct Evidence: marker/mechanism

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

Galloway-Mowat syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

endoglin

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

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

NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230

G

WD repeat domain 73

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

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

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

G

zinc finger protein 592

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

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

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

Galloway-Mowat Syndrome 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

similar to human chromosome 1 open reading frame 122

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

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

G

yrdC N(6)-threonylcarbamoyltransferase domain containing

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

PMID:31481669 PMID:34545459

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

Galloway-Mowat syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

L antigen family, member 3

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

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

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

Galloway-Mowat syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

O-sialoglycoprotein endopeptidase

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

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

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

Galloway-Mowat syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Tp53 tumor protein p53 regulating kinase A

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

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

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

Galloway-Mowat syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Tp53rk binding protein

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

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

NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901

Galloway-Mowat Syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WD repeat domain 4

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

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

NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581

Galloway-Mowat Syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 107

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

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

NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370

Galloway-Mowat Syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 133

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

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

NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239

Galloway-Mowat Syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GON7 subunit of KEOPS complex

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

PMID:25741868 PMID:31481669

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

hypoparathyroidism-deafness-renal disease syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA binding domain containing 7

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

NCBI chr17:74,903,936...74,909,977
Ensembl chr17:74,903,177...74,905,811

G

aldo-keto reductase family 1, member C1

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

NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326

G

aldo-keto reductase family 1, member C2

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

NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764

G

aldo-keto reductase family 1, member C3

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

NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873

G

aldo-keto reductase family 1, member E2

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

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

G

ankyrin repeat domain 16

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

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

G

ADP-ribosylation factor like GTPase 5B

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

NCBI chr17:77,955,864...77,979,895
Ensembl chr17:77,955,818...77,979,854

G

ankyrin repeat and SOCS box-containing 13

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

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

G

ATP synthase F1 subunit gamma

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

NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367

G

BEN domain containing 7

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

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

G

complement C1q like 3

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

NCBI chr17:76,119,344...76,129,170
Ensembl chr17:76,119,447...76,128,530

G

calcium voltage-gated channel auxiliary subunit beta 2

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

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106

G

calmodulin-like 3

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

NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175

G

calmodulin-like 5

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

NCBI chr17:66,394,433...66,395,352

G

calcium/calmodulin-dependent protein kinase ID

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

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

G

coiled-coil domain containing 3

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

NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337

G

cell division cycle 123

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

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

G

cerebral dopamine neurotrophic factor

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

NCBI chr17:74,714,564...74,728,639
Ensembl chr17:74,713,564...74,728,639

G

CUGBP, Elav-like family member 2

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

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

G

cubilin

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

NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231

G

DNA cross-link repair 1C

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

NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186

G

dehydrogenase E1 and transketolase domain containing 1

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

NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723

G

enoyl CoA hydratase domain containing 3

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

NCBI chr17:72,070,697...72,093,519
Ensembl chr17:72,070,668...72,093,516

G

family with sequence similarity 107, member B

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

NCBI chr17:74,478,608...74,685,027
Ensembl chr17:74,478,608...74,684,989

G

family with sequence similarity 171, member A1

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

NCBI chr17:75,024,582...75,148,348
Ensembl chr17:75,024,575...75,150,255

G

F-box DNA helicase 1

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

NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590

G

FERM domain containing 4A

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

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

G

GATA binding protein 3

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

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

GDP dissociation inhibitor 2

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

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

G

3-hydroxyacyl-CoA dehydratase 1

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

NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073

G

heat shock protein family A (Hsp70) member 14

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

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

G

interleukin 15 receptor subunit alpha

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

NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278

G

interleukin 2 receptor subunit alpha

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

NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697

G

integrin subunit alpha 8

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

NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510

G

inter-alpha-trypsin inhibitor heavy chain 2

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

NCBI chr17:68,375,574...68,411,849
Ensembl chr17:68,375,567...68,411,841

G

inter-alpha-trypsin inhibitor heavy chain 5

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

NCBI chr17:68,248,115...68,352,216
Ensembl chr17:68,252,128...68,352,207

G

Kin17 DNA and RNA binding protein

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

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

G

minichromosome maintenance 10 replication initiation factor

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

NCBI chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364

G

meiosis/spermiogenesis associated 1

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

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

G

MINDY lysine 48 deubiquitinase 3

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

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

G

neuroepithelial cell transforming 1

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

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

G

N-myristoyltransferase 2

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

NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080

G

NOP2/Sun RNA methyltransferase 6

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

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

G

nudix hydrolase 5

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

NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001

G

oleoyl-ACP hydrolase

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

NCBI chr17:74,877,651...74,902,517
Ensembl chr17:74,877,655...74,902,518

G

optineurin

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

NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251

G

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

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

NCBI chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125

G

phytanoyl-CoA 2-hydroxylase

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

NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409

G

protein kinase C, theta

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

NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704

G

proline and serine rich 2

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

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

G

pre-mRNA processing factor 18

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

NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979

G

phosphotriesterase related

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

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

G

RNA binding motif protein 17

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

NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014

G

ribonuclease P/MRP subunit p38

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

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

G

Ras suppressor protein 1

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

NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454

G

SEC61 translocon subunit alpha 2

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

NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494

G

selenophosphate synthetase 1

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

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

G

Scm-like with four mbt domains 2

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

NCBI chr17:67,934,296...68,128,905
Ensembl chr17:67,935,904...68,128,781

G

solute carrier family 39 member 12

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

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

G

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

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

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

G

signal transducing adaptor molecule

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

NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467

G

SUV39H2 histone lysine methyltransferase

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

NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332

G

TATA-box binding protein associated factor 3

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

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

G

transcription activation suppressor family member 2

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

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

G

tRNA aspartic acid methyltransferase 1

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

NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439

G

tubulin, alpha-like 3

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

NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355

G

upper zone of growth plate and cartilage matrix associated

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

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

G

urocortin 3

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

NCBI chr17:66,309,748...66,315,996
Ensembl chr17:66,309,371...66,315,990

G

UPF2, regulator of nonsense mediated mRNA decay

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

NCBI chr17:72,224,575...72,335,896
Ensembl chr17:72,225,316...72,335,855

G

USP6 N-terminal like

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

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

G

vimentin

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

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

Imerslund-Grasbeck Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

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

NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815

G

calcium voltage-gated channel auxiliary subunit beta 2

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106

G

CDC42 binding protein kinase beta

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

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

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

G

cubilin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

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

NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231

G

3-hydroxyacyl-CoA dehydratase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073

G

solute carrier family 39 member 12

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

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

G

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

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

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

G

signal transducing adaptor molecule

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467

G

Tnf receptor-associated factor 3

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481

G

tRNA aspartic acid methyltransferase 1

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439

G

vimentin

ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

Imerslund-Grasbeck Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

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

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

NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815

G

cobalamin binding intrinsic factor

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

RGD

PMID:15738392 PMID:10435666

RGD:11049583, RGD:11049586

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

G

CDC42 binding protein kinase beta

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

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

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

G

cubilin

DNA:missense mutation:cds:p.P1297L (human)
ClinVar Annotator: match by term: Enterocyte 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

ClinVar
CTD
OMIM
RGD

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

NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231

Imerslund-Grasbeck Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

amnion associated transmembrane protein

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

ClinVar
OMIM
RGD

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

NCBI chr 6:130,311,372...130,318,815
Ensembl chr 6:130,311,372...130,318,815

G

CDC42 binding protein kinase beta

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

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

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

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

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

integrin subunit alpha 3

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

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

NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118

lipoid nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin-dependent kinase inhibitor 1A

treatment

RGD

NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585

G

interleukin 13

RGD

NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737

G

interleukin 17A

Protein:increased expression:plasma (rat)

RGD

NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889

G

galectin 1

protein:decreased expression:glomerulus, podocytes (rat)

RGD

NCBI chr 7:110,485,239...110,488,345
Ensembl chr 7:110,481,392...110,488,345

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Lipoid nephrosis

PMID:23687361 PMID:32581362

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

G

nuclear receptor subfamily 3, group C, member 1

disease_progression

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

signal transducer and activator of transcription 6

severity
no_association

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

RGD

PMID:12900808 PMID:15687724 PMID:19011907

RGD:7244138, RGD:7244146, RGD:7244144

NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495

nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

protein:increased activity:multiple (rats)
Adriamycin Nephrosis

RGD

PMID:8303709 PMID:8665777

RGD:8157608, RGD:12879388

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

angiotensinogen

CTD Direct Evidence: marker/mechanism

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

albumin

CTD Direct Evidence: marker/mechanism

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

angiopoietin 1

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067

G

angiopoietin 2

mRNA:increased expression:kidney (rat)

RGD

PMID:18929866 PMID:18929864

RGD:2314177, RGD:2314178

NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804

G

catalase

mRNA: decreased expression: glomerulus

RGD

NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478

G

C-C motif chemokine ligand 1

RGD

NCBI chr10:67,128,331...67,131,109
Ensembl chr10:67,128,331...67,131,159

G

C-C motif chemokine ligand 7

RGD

NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303

G

CD36 molecule

RGD

NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903

G

CD40 ligand

RGD

NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306

G

CD59b molecule

RGD

NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847

G

complement factor H

protein:altered expression:kidney:

RGD

NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838

G

C-X3-C motif chemokine ligand 1

RGD

NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833

G

C-X3-C motif chemokine receptor 1

RGD

NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014

G

cytochrome P450, family 11, subfamily a, polypeptide 1

mRNA:decreased expression

RGD

NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338

G

cytochrome P450, family 27, subfamily b, polypeptide 1

RGD

NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241

G

cytochrome P450, family 3, subfamily a, polypeptide 18

CTD Direct Evidence: marker/mechanism

NCBI chr12:8,880,509...8,930,382
Ensembl chr12:8,880,528...8,930,381

G

cytochrome P450, family 3, subfamily a, polypeptide 9

CTD Direct Evidence: marker/mechanism

NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422

G

DNA-damage inducible transcript 3

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

CTD
RGD

PMID:16400006 PMID:16400006

NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201

G

desmin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699

G

endothelin 1

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

CTD
RGD

PMID:7756592 PMID:9175058

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

endothelin receptor type B

CTD Direct Evidence: marker/mechanism

NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115

G

coagulation factor II, thrombin

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:18541230 PMID:18541230

NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486

G

GATA binding protein 3

HDR Syndrome/Barakat Syndrome, OMIM:146255

RGD

NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391

G

glutathione peroxidase 1

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

hepatitis A virus cellular receptor 1

mRNA,protein:increased expression:kidney:

RGD

NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698

G

heparanase

CTD Direct Evidence: marker/mechanism

NCBI chr14:8,896,593...8,937,011
Ensembl chr14:8,896,593...8,937,010

G

intercellular adhesion molecule 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438

G

interleukin 1 beta

RGD

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

integrin subunit beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600

G

laminin subunit beta 2

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

LDL receptor related protein 2

mRNA:decreased expression:glomerulus

RGD

NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708

G

nestin

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

CTD
RGD

PMID:16418842 PMID:17637254

NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777

G

NPHS2 stomatin family member, podocin

CTD Direct Evidence: marker/mechanism

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

G

natriuretic peptide A

protein:increased expression:plasma

RGD

NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351

G

natriuretic peptide B

protein:increased expression:plasma

RGD

NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168

G

podoplanin

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656

G

protein tyrosine phosphatase, receptor type, U

mRNA, protein:decreased expression:glomerulus

RGD

NCBI chr 5:143,950,542...144,024,791
Ensembl chr 5:143,950,965...144,024,768

G

renin

CTD Direct Evidence: marker/mechanism

PMID:2046802 PMID:6358456

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

superoxide dismutase 1

CTD Direct Evidence: therapeutic

NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249

G

sterol regulatory element binding transcription factor 2

protein:altered localization:nucleus

RGD

NCBI chr 7:113,663,202...113,720,850
Ensembl chr 7:113,663,202...113,720,848

G

steroidogenic acute regulatory protein

mRNA:decreased expression:ovary

RGD

NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672

G

vimentin

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

CTD
RGD

PMID:16418842 PMID:16418842

NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187

nephrotic syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha-2-macroglobulin

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

CTD
RGD

PMID:11304663 PMID:9453001

NCBI chr 4:154,897,770...154,947,787
Ensembl chr 4:154,897,877...154,947,786

G

acetyl-CoA acetyltransferase 1

protein:increased expression:kidney (rat)

RGD

NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855

G

angiotensin I converting enzyme

treatment

protein:increased activity:multiple

RGD

PMID:2175683 PMID:15942045

RGD:11038913, RGD:1598707

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

actinin alpha 4

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847

G

alanine--glyoxylate aminotransferase

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336

G

albumin

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:1556257 PMID:17178036 PMID:22203175

NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836

G

ALMS1, centrosome and basal body associated protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005

G

arachidonate 5-lipoxygenase

RGD

NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743

G

anillin, actin binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538

G

apolipoprotein A1

RGD

NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035

G

apolipoprotein B

protein:increased expression:serum (rat)

RGD

NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497

G

apolipoprotein C2

protein:increased expression:serum

RGD

NCBI chr 1:79,329,429...79,334,397
Ensembl chr 1:79,329,428...79,334,476

G

apolipoprotein C3

protein:increased expression:serum

RGD

NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583

G

apolipoprotein E

protein:increased expression:serum (human)

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

Rho GTPase activating protein 24

ClinVar Annotator: match by term: Nephrotic syndrome

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

G

Rho GDP dissociation inhibitor alpha

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

NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023

G

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

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889

G

axonemal dynein light chain domain containing 1

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

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

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

G

bone gamma-carboxyglutamate protein

protein:decreased expression:serum

RGD

NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495

G

Cd2 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 2:188,710,895...188,724,044
Ensembl chr 2:188,710,900...188,724,026

G

cyclin-dependent kinase 20

ClinVar Annotator: match by term: Nephrotic syndrome

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

G

complement factor I

disease_progression

RGD

NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561

G

cofilin 1

treatment

RGD

NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264

G

component of oligomeric golgi complex 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:19008299 PMID:25741868 PMID:29127259

NCBI chr10:98,695,481...98,708,495
Ensembl chr10:98,695,423...98,709,292

G

collagen type I alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624

G

collagen type IV alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412

G

collagen type IV alpha 2 chain

CTD Direct Evidence: marker/mechanism

NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839

G

collagen type IV alpha 3 chain

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 4 chain

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876

G

collagen type IV alpha 5 chain

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

coenzyme Q2, polyprenyltransferase

ClinVar Annotator: match by term: Nephrotic syndrome

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

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

G

coenzyme Q8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33532864

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

G

carboxypeptidase B2

protein:increased activity,increased expression:plasma

RGD

NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556

G

cystinosin, lysosomal cystine transporter

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120

G

cathepsin L

mRNA, protein:increased expression:glomerulus (rat)

RGD

NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548

G

dopa decarboxylase

protein:decreased activity:renal cortex (rat)

RGD

NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208

G

diacylglycerol O-acyltransferase 1

mRNA,protein:increased expression:liver:

RGD

NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299

G

diacylglycerol kinase epsilon

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100

G

dehydrogenase E1 and transketolase domain containing 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28492532 PMID:29127259

NCBI chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723

G

endothelin converting enzyme 1

mRNA,protein:increased expression:kidney:

RGD

NCBI chr 5:150,077,679...150,179,375
Ensembl chr 5:150,077,644...150,179,371

G

endothelin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885

G

endothelin receptor type A

mRNA:increased expression:Glomerulus

RGD

NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049

G

erythropoietin

treatment

RGD

NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946

G

coagulation factor III, tissue factor

CTD Direct Evidence: marker/mechanism

NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Nephrotic syndrome

MouseDO
ClinVar

PMID:25741868 PMID:26905694 PMID:28492532

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

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221

G

fibronectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678

G

galactosidase, alpha

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664

G

glycoprotein Ib platelet subunit alpha

protein: reduced expression: :

RGD

NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774

G

glycerol-3-phosphate acyltransferase, mitochondrial

RGD

NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639

G

glypican 5

CTD Direct Evidence: therapeutic

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

G

glutathione peroxidase 1

mRNA:increased expression:kidney

RGD

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

glutathione peroxidase 3

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

RGD

PMID:12824952 PMID:20685819 PMID:20685819

RGD:1625122, RGD:7205671, RGD:7205671

NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035

G

glutathione peroxidase 4

mRNA:decreased expression:kidney

RGD

NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982

G

guanylate cyclase activator 2B

CTD Direct Evidence: marker/mechanism

NCBI chr 5:133,246,891...133,248,941
Ensembl chr 5:133,246,909...133,248,966

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899

G

insulin-like growth factor binding protein, acid labile subunit

RGD

NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677

G

interleukin 1 beta

severity

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

RGD

PMID:21359962 PMID:21103916 PMID:14760799

RGD:7175324, RGD:7175339, RGD:7175337

NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415

G

interleukin 1 receptor antagonist

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

RGD

NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445

G

interleukin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566

G

interleukin 4

treatment

RGD

NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750

G

interleukin 5

RGD

NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213

G

inverted formin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29127259

NCBI chr 6:131,649,162...131,675,944
Ensembl chr 6:131,649,211...131,675,941

G

integrin subunit alpha 3

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:22512483 PMID:29127259

NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118

G

integrin subunit beta 4

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532

NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012

G

intersectin 1

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29773874

NCBI chr11:30,978,590...31,160,645
Ensembl chr11:30,978,590...31,160,645

G

intersectin 2

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

G

Janus kinase 2

RGD

NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189

G

KN motif and ankyrin repeat domains 4

ClinVar Annotator: match by term: Nephrotic syndrome

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

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

G

potassium inwardly-rectifying channel, subfamily J, member 1

RGD

NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796

G

kirre like nephrin family adhesion molecule 2

ClinVar Annotator: match by term: Nephrotic syndrome

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

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

G

laminin subunit alpha 5

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451

G

laminin subunit beta 2

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

lipase C, hepatic type

protein, mRNA:reduced expression:liver (rat)

RGD

NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464

G

LIM homeobox transcription factor 1 beta

ClinVar Annotator: match by term: Nephrotic syndrome

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

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

G

mitochondrial inner membrane protein MPV17

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

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

G

myosin, heavy chain 9

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457

G

myosin IE

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:29127259

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

G

NCK adaptor protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300

G

NCK adaptor protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:45,713,979...45,840,330
Ensembl chr 9:45,714,883...45,840,307

G

NFKB inhibitor alpha

exacerbates

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

RGD

NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941

G

NOC3-like DNA replication regulator

ClinVar Annotator: match by term: Nephrotic syndrome

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

G

nitric oxide synthase 1

protein:decreased expression:kidney

RGD

NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945

G

NPHS1 adhesion molecule, nephrin

treatment

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

PMID:15942045 PMID:22493483

RGD:1598707, RGD:38599005

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

G

NPHS2 stomatin family member, podocin

treatment

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

ClinVar
MouseDO
CTD
RGD

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

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

G

nuclear receptor subfamily 3, group C, member 1

treatment

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

nucleoporin 93

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026

G

O-sialoglycoprotein endopeptidase

ClinVar Annotator: match by term: Nephrotic syndrome

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

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

G

paired box 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321

G

decaprenyl diphosphate synthase subunit 2

ClinVar Annotator: match by term: Nephrotic syndrome

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

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

G

phospholipase A2 group VII

protein:increased activity:plasma

RGD

PMID:15292677 PMID:8692015

RGD:7248795, RGD:7257517

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

phospholipase C, epsilon 1

onset

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

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

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

PPARG coactivator 1 alpha

protein:decreased expression:kidney cortex (rat)

RGD

NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656

G

prostaglandin-endoperoxide synthase 2

RGD

NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188

G

renin

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

RT1 class II, locus Db1

CTD Direct Evidence: marker/mechanism

PMID:6420562 PMID:11095018

NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258

G

RUNX family transcription factor 2

ClinVar Annotator: match by term: Nephrotic syndrome

NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167

G

sodium channel epithelial 1 subunit alpha

RGD

NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181

G

sodium channel epithelial 1 subunit beta

RGD

NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451

G

serpin family C member 1

disease_progression

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:11304663 PMID:7532794 PMID:8979144

RGD:11035294, RGD:11038563

NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293

G

serpin family E member 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657

G

sphingosine-1-phosphate lyase 1

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084

G

solute carrier family 35, member F1

ClinVar Annotator: match by term: Nephrotic syndrome

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

G

SMAD family member 1

RGD

NCBI chr19:28,513,130...28,573,665
Ensembl chr19:28,513,131...28,573,651

G

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

ClinVar Annotator: match by term: Nephrotic syndrome

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

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

G

sterol O-acyltransferase 2

mRNA, protein:increased expression:liver

RGD

NCBI chr 7:133,281,818...133,294,915
Ensembl chr 7:133,281,818...133,294,915

G

superoxide dismutase 2

CTD Direct Evidence: marker/mechanism

CTD
RGD

PMID:9152291 PMID:9152291

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

synaptopodin

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:33615071

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

G

TBC1 domain family member 8B

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:31732614

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

G

transferrin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511

G

tissue factor pathway inhibitor

protein:increased expression:plasma

RGD

NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880

G

transforming growth factor, beta 1

CTD Direct Evidence: marker/mechanism

PMID:1281619 PMID:8023968 PMID:10515446

NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847

G

TNF receptor superfamily member 11B

protein:decreased expression:serum

RGD

NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538

G

tensin 2

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:25741868 PMID:28492532 PMID:29773874

NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888

G

Tp53rk binding protein

ClinVar Annotator: match by term: Nephrotic syndrome

PMID:28805828 PMID:29127259

NCBI chr 4:118,342,910...118,357,908
Ensembl chr 4:118,342,945...118,357,901

G

transient receptor potential cation channel, subfamily C, member 6

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Nephrotic syndrome

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

NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903

G

very low density lipoprotein receptor

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

RGD

NCBI chr 1:224,813,539...224,850,400
Ensembl chr 1:224,814,377...224,845,920

G

WD repeat domain 73

ClinVar Annotator: match by term: Nephrotic syndrome

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

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

G

WT1 transcription factor

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

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

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

nephrotic syndrome type 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 6

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:12384774 PMID:25741868 PMID:28492532

NCBI chr 1:96,447,224...96,501,464
Ensembl chr 1:96,447,251...96,501,464

G

ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

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

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

G

Rho GDP dissociation inhibitor alpha

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023

G

axonemal dynein light chain domain containing 1

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

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

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

G

C-C motif chemokine ligand 11

RGD

NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926

G

FAT atypical cadherin 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

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

G

kirre like nephrin family adhesion molecule 2

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

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

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

G

NPHS1 adhesion molecule, nephrin

DNA:mutations:multiple (human)

RGD

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

G

NPHS2 stomatin family member, podocin

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

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

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

G

phospholipase C, epsilon 1

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

protein S

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1

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

NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286

G

serine peptidase inhibitor, Kazal type 1

ClinVar Annotator: match by term: Congenital nephrotic syndrome 1

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

NCBI chr18:35,870,723...35,882,693
Ensembl chr18:35,824,550...35,882,642

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

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

NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903

G

WT1 transcription factor

ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome

PMID:22099579 PMID:25741868 PMID:27719739

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

nephrotic syndrome type 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epithelial membrane protein 2

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

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

NCBI chr10:5,360,073...5,394,734
Ensembl chr10:5,360,073...5,394,733

nephrotic syndrome type 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 107

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

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

NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370

nephrotic syndrome type 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 7

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

NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788

G

nucleoporin 93

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

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

NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026

nephrotic syndrome type 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 205

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

PMID:25741868 PMID:26878725 PMID:28492532

NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844

nephrotic syndrome type 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sphingosine-1-phosphate lyase 1

ClinVar Annotator: match by term: Nephrotic syndrome 14

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

NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084

nephrotic syndrome type 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

ClinVar Annotator: match by term: Nephrotic syndrome 15

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

NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240

nephrotic syndrome type 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KN motif and ankyrin repeat domains 2

ClinVar Annotator: match by term: Nephrotic syndrome 16

PMID:25741868 PMID:25961457 PMID:28492532

NCBI chr 8:20,311,676...20,341,107
Ensembl chr 8:20,311,676...20,340,900

nephrotic syndrome type 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

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

PMID:25741868 PMID:30179222

NCBI chr10:100,825,427...100,843,422
Ensembl chr10:100,825,426...100,844,462

G

nucleoporin 85

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

PMID:25741868 PMID:28492532 PMID:30179222

NCBI chr10:100,806,482...100,825,029
Ensembl chr10:100,806,437...100,825,043

nephrotic syndrome type 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 133

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

PMID:25741868 PMID:28492532 PMID:30179222

NCBI chr19:51,891,606...51,941,243
Ensembl chr19:51,891,629...51,941,239

nephrotic syndrome type 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nucleoporin 160

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

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

NCBI chr 3:76,665,786...76,729,296
Ensembl chr 3:76,665,786...76,724,565

nephrotic syndrome type 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A5

protein:increased expression:urine

RGD

NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369

G

advillin

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

PMID:25741868 PMID:29058690

NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071

G

axonemal dynein light chain domain containing 1

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

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

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

G

collagen type IV alpha 3 chain

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

NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895

G

collagen type IV alpha 4 chain

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

PMID:25741868 PMID:28492532

NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876

G

collagen type IV alpha 5 chain

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

NCBI chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692

G

crumbs cell polarity complex component 2

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

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

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

G

NPHS2 stomatin family member, podocin

ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Nephrotic syndrome, type 2, susceptibility to | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

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

G

nuclear receptor subfamily 3, group C, member 1

mRNA:alternative form:blood, mononuclear cell

RGD

NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375

G

nucleoporin 205

CTD Direct Evidence: marker/mechanism

NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844

G

nucleoporin 93

CTD Direct Evidence: marker/mechanism

NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026

G

paired box 2

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

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

NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321

G

phospholipase A2 group VII

disease_progression

RGD

NCBI chr 9:17,362,214...17,404,476
Ensembl chr 9:17,362,225...17,404,476

G

phospholipase C, epsilon 1

DNA:mutations: :

RGD

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

G

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

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

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

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

G

transient receptor potential cation channel, subfamily C, member 6

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

RGD

NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092

G

Ts translation elongation factor, mitochondrial

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

PMID:25741868 PMID:29058690

NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769

G

WT1 transcription factor

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

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

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

G

exportin 5

CTD Direct Evidence: marker/mechanism

NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171

nephrotic syndrome type 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TBC1 domain family member 8B

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

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

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

nephrotic syndrome type 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

advillin

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

PMID:25741868 PMID:29058690

NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071

G

Ts translation elongation factor, mitochondrial

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

PMID:25741868 PMID:29058690

NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769

nephrotic syndrome type 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nitric oxide synthase 1 adaptor protein

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

PMID:25741868 PMID:28492532 PMID:33523862

NCBI chr13:82,547,799...82,820,999
Ensembl chr13:82,530,577...82,820,949

nephrotic syndrome type 23

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kirre like nephrin family adhesion molecule 1

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

PMID:25741868 PMID:31472902

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

Nephrotic Syndrome Type 24

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dishevelled associated activator of morphogenesis 2

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

PMID:25741868 PMID:28492532 PMID:33232676

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

Nephrotic Syndrome Type 26

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

laminin subunit alpha 5

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

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

NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451

nephrotic syndrome type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NOC3-like DNA replication regulator

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

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

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

G

phospholipase C, epsilon 1

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

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

NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438

nephrotic syndrome type 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

WT1 transcription factor

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

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

NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643

nephrotic syndrome type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

crumbs cell polarity complex component 1

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

PMID:25741868 PMID:28492532 PMID:32295525

NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261

G

laminin subunit beta 2

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

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

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

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 chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400

G

serpin family A member 10

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

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

NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544

nephrotic syndrome type 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein tyrosine phosphatase, receptor type, O

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

PMID:21722858 PMID:25741868 PMID:28492532

NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771

nephrotic syndrome type 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diacylglycerol kinase epsilon

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

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

NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100

nephrotic syndrome type 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GDP dissociation inhibitor alpha

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

PMID:23867502 PMID:25741868 PMID:28492532

NCBI chr10:105,854,526...105,858,020
Ensembl chr10:105,854,533...105,858,023

nephrotic syndrome type 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coenzyme Q8B

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

PMID:9536098 PMID:17576681 PMID:24270420 PMID:25741868 PMID:28204945 More...

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

paroxysmal nocturnal hemoglobinuria

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complement C3

protein:increased processing:erythrocyte

RGD

NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429

G

complement C5

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

PMID:24521109 PMID:25741868 PMID:28492532

NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994

G

C-X-C motif chemokine receptor 4

treatment

RGD

NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883

G

phosphatidylinositol glycan anchor biosynthesis, class A

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

ClinVar
CTD
RGD

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

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

G

phosphatidylinositol glycan anchor biosynthesis, class T

CTD Direct Evidence: marker/mechanism

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

G

RT1 class II, locus Ba

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744

G

RT1 class II, locus Bb

DNA:polymorphism, haplotype

RGD

NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597

Paroxysmal Nocturnal Hemoglobinuria 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis, class A

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

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

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

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1

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

Paroxysmal Nocturnal Hemoglobinuria 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatidylinositol glycan anchor biosynthesis, class T

ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2

PMID:23733340 PMID:25741868 PMID:28492532

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

Pierson syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminomethyltransferase

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126

G

similar to human chromosome 3 open reading frame 62

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:109,080,032...109,084,588
Ensembl chr 8:109,036,030...109,097,895

G

similar to human chromosome 3 open reading frame 84

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791

G

coiled-coil domain containing 71

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216

G

dystroglycan 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325

G

dicer 1 ribonuclease III

ClinVar Annotator: match by term: Pierson syndrome

PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More...

NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965

G

glutathione peroxidase 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024

G

interactor of HORMAD1 1

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434

G

kelch domain containing 8B

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918

G

laminin subunit beta 2

ClinVar Annotator: match by term: Pierson syndrome
ClinVar Annotator: match by term: MICROCORIA-CONGENITAL NEPHROTIC SYNDROME | ClinVar Annotator: match by term: Pierson syndrome
OMIM:609049
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

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

RGD:7207425, RGD:7207425

NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549

G

nicolin 1, tubulin polyglutamylase complex subunit

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067

G

ras homolog family member A

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746

G

T-cell leukemia translocation altered

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564

G

tensin 2

OMIM:609049

NCBI chr 7:133,229,746...133,247,889
Ensembl chr 7:133,206,364...133,247,888

G

ubiquitin specific peptidase 4

ClinVar Annotator: match by term: Pierson syndrome

PMID:15367484 PMID:28492532

NCBI chr 8:109,035,402...109,079,382
Ensembl chr 8:109,036,099...109,080,427

Puromycin Aminonucleoside Nephrosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

RGD

NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131

G

aminocarboxymuconate semialdehyde decarboxylase

RGD

NCBI chr13:39,200,412...39,245,954
Ensembl chr13:39,200,314...39,245,209

G

actin related protein 2

mRNA, protein:increased expression:cortex of kidney (rat)

RGD

NCBI chr14:94,296,443...94,333,735
Ensembl chr14:94,296,443...94,340,524

G

angiotensinogen

RGD

NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977

G

apolipoprotein E

RGD

NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932

G

BAR/IMD domain containing adaptor protein 2

protein:increased expression:glomerular visceral epithelial cell

RGD

NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134

G

Fas cell surface death receptor

protein:increased expression:renal glomerulus, renal interstitium, renal tubule

RGD

NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591

G

matrix metallopeptidase 2

mRNA:increased expression:renal glomerulus (rat)

RGD

NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870

G

NPHS1 adhesion molecule, nephrin

mRNA, protein:altered expression:glomerulus (rat)

RGD

NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078

G

p21 (RAC1) activated kinase 2

RGD

NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816

G

renin

RGD

NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489

G

xanthine dehydrogenase

treatment

RGD

NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268

Schimke immuno-osseous dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM:242900
CTD Direct Evidence: marker/mechanism

ClinVar
MouseDO
CTD
OMIM
RGD

PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More...

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

Term paths to the root

Path 1
Term	Annotations
disease	19072
Pathological Conditions, Signs and Symptoms	13492
Signs and Symptoms	11040
Urological Manifestations	625
proteinuria	587
Albuminuria	166
Chronic Benign Proteinuria	1
Donnai-Barrow syndrome	2
Imerslund-Grasbeck Syndrome +	12
hemoglobinuria +	8
nephrosis +	291
Path 2
Term	Annotations
disease	19072
disease of anatomical entity	18365
Urogenital Diseases	5279
urinary system disease	2851
kidney disease	2602
proteinuria	587
Albuminuria	166
Chronic Benign Proteinuria	1
Donnai-Barrow syndrome	2
Imerslund-Grasbeck Syndrome +	12
hemoglobinuria +	8
nephrosis +	291

paths to the root