type 1 diabetes mellitus - 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:	type 1 diabetes mellitus	go back to main search page
Accession:	DOID:9744	browse the term
Definition:	A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. (DO)
Synonyms:	exact_synonym:	IDDM; IDDM1; IDDMX; Insulin-Dependent Diabetes Mellitus 1; T1D; autoimmune diabetes; brittle diabetes mellitus; diabetes mellitus, type I; insulin-dependent diabetes mellitus; juvenile-onset diabetes mellitus; sudden-onset diabetes mellitus; type 1 diabetes
	narrow_synonym:	JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1; JUVENILE-ONSET DIABETES; idiopathic type 1 diabetes; neonatal insulin-dependent diabetes mellitus; virus-induced diabetes
	related_synonym:	DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO; Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to
	primary_id:	MESH:D003922
	alt_id:	MIM:222100; MIM:300136
	xref:	EFO:0001359; EFO:0009757; GARD:10268; MONDO:0005147; NCI:C2986

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Genes (287)

type 1 diabetes mellitus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 8

CTD Direct Evidence: marker/mechanism

NCBI chr11:17,447,564...17,531,513
Ensembl chr11:17,133,063...17,216,870

G

angiotensin I converting enzyme

disease progression

protein:increased activity:serum (human)
DNA:deletion:intron:IVS16+1464-1751del (human)

PMID:1336356 PMID:9025006

RGD:7829770 RGD:7829799

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

G

acetylcholinesterase (Yt blood group)

NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184

G

acid phosphatase 1

onset

PMID:11912546 PMID:15586390

RGD:2313182 RGD:2313186

NCBI chr2A:257,892...271,320
Ensembl chr2A:253,656...267,086

G

adiponectin, C1Q and collagen domain containing

NCBI chr 3:183,876,051...183,889,723
Ensembl chr 3:192,341,320...192,354,885

G

adrenoceptor beta 1

NCBI chr10:110,642,491...110,646,595

G

advanced glycosylation end-product specific receptor

DNA:SNP:promoter:-374T>A (human)
DNA:SNP, haplotype: :557G>A (p.G82S) (human)
protein:increased expression:renal cortex (mouse)
protein:decreased expression:serum (human)

PMID:10553500 PMID:16969646 PMID:18420491 PMID:21738623 PMID:21870072

RGD:2325657 RGD:7243937 RGD:7244183 RGD:8695958 RGD:8695961

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

G

allograft inflammatory factor 1

onset

DNA:polymorphism:intron:rs2259571 (human)

PMID:9391121 PMID:18987644

RGD:2313043 RGD:2313199

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

G

apoptosis inducing factor mitochondria associated 1

CTD Direct Evidence: marker/mechanism

NCBI chr X:119,256,425...119,292,612
Ensembl chr X:129,550,287...129,586,271

G

aldehyde dehydrogenase 2 family member

NCBI chr12:109,343,020...109,385,060
Ensembl chr12:112,734,243...112,776,471

G

arachidonate 15-lipoxygenase

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

G

apolipoprotein A1

protein:increased expression:plasma

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

G

apolipoprotein A2

protein:decreased expression:plasma

NCBI chr 1:136,634,754...136,636,122
Ensembl chr 1:140,546,591...140,547,959

G

apolipoprotein B

PMID:1579407 PMID:19171731

RGD:2313972 RGD:2313980

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

apolipoprotein C3

susceptibility

DNA:polymorphisms: :multiple

PMID:1579407 PMID:16505251 PMID:21670290

RGD:2306765 RGD:2313972 RGD:7207205

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

G

apolipoprotein E

protein:decreased expression:urine (human)

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

G

apolipoprotein H

NCBI chr17:60,154,389...60,171,762
Ensembl chr17:65,365,250...65,382,483

G

apolipoprotein M

susceptibility

DNA:SNP:promoter:g.-778T>C(rs805296)(human)

NCBI chr 6:31,313,543...31,319,374
Ensembl chr 6:32,206,514...32,209,249

G

arginine vasopressin

PMID:5692127 PMID:13995944

RGD:2314661 RGD:632128

NCBI chr20:3,169,094...3,172,900

G

beta-2-microglobulin

PMID:11572996 PMID:15446308

RGD:2311235 RGD:2311238

NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991

G

BTB domain and CNC homolog 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:87,806,188...88,175,840
Ensembl chr 6:91,083,533...91,160,552

G

B cell scaffold protein with ankyrin repeats 1

susceptibility

DNA:SNP: :rs3733197(human)

NCBI chr 4:94,216,751...94,507,965
Ensembl chr 4:104,813,791...105,171,527

G

butyrylcholinesterase

onset

DNA:polymorphism: :p.A539T (human)

NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

G

bone gamma-carboxyglutamate protein

protein:increased expression:serum:
protein:decreased expression:plasma

PMID:9850345 PMID:21041817

RGD:7207232 RGD:7207419

NCBI chr 1:131,583,789...131,586,459
Ensembl chr 1:135,413,871...135,416,432

G

basic helix-loop-helix ARNT like 2

DNA:SNPs:exon:multiple

NCBI chr12:58,885,410...58,977,832
Ensembl chr12:61,503,973...61,596,580

G

betacellulin

susceptibility

DNA:polymorphism:intron:IVS4-4C>T (human)

NCBI chr 4:49,329,413...49,462,891
Ensembl chr 4:55,242,899...55,298,773

G

chromosome 10 C12orf43 homolog

ClinVar Annotator: match by term: Diabetes mellitus type 1

NCBI chr12:118,583,873...118,599,866
Ensembl chr12:121,955,849...121,969,658

G

C1q and TNF related 6

CTD Direct Evidence: marker/mechanism

NCBI chr22:18,093,940...18,112,459
Ensembl chr22:35,928,835...35,937,021

G

complement C3

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

G

caspase 3

protein:increased activity:hippocampus

NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185

G

caspase 8

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

G

caspase 9

PMID:14617576 PMID:17880769

RGD:2311245 RGD:2311322

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

G

catalase

CTD Direct Evidence: therapeutic

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

G

Cbl proto-oncogene

mRNA:decreased expression:pancreatic lymph node, mast cell (rat)

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

Cbl proto-oncogene B

no_association
susceptibility

DNA:SNP:exon:rs3772534 (human)
DNA:missense mutations: :multiple (human)
DNA:nonsense mutation (rat)
DNA:SNPs: :multiple (human)

PMID:12118252 PMID:14961073 PMID:15629882 PMID:17209142 PMID:18201552

RGD:2314037 RGD:2314039 RGD:2314040 RGD:2314041 RGD:625457

NCBI chr 3:102,752,406...102,966,414
Ensembl chr 3:109,690,120...109,905,191

G

C-C motif chemokine ligand 2

onset

mRNA:increased expression:pancreatic islet (mouse)
protein:increased expression:serum

PMID:11317664 PMID:19092169

RGD:2306983 RGD:8549575

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

G

C-C motif chemokine ligand 20

CTD Direct Evidence: therapeutic

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

G

C-C motif chemokine ligand 5

susceptibility

DNA:SNPs:rs4251719, rs2306630, rs2107538 (human)

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

G

C-C motif chemokine receptor 2

no_association

DNA:polymorphism: :p.V64I (human)

PMID:10400139 PMID:12770795

RGD:2313562 RGD:2313564

NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312

G

C-C motif chemokine receptor 5

no_association

protein:decreased expression:blood, mononuclear cell
DNA:frameshift mutation: :p.S185_T195del (rs333) (human)
mRNA:increased expression:splenocyte (rat)

PMID:12145160 PMID:15240727 PMID:23773920

RGD:2317571 RGD:4890459 RGD:8551818

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

G

CD14 molecule

protein:increased expression:monocyte

PMID:10831941 PMID:14614560

RGD:2314173 RGD:2314175

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

G

CD28 molecule

onset

protein:decreased expression:T cell
DNA:polymorphism:intron (human)

PMID:9410902 PMID:11685455 PMID:15504310

RGD:2307197 RGD:2307199 RGD:2307201

NCBI chr2B:90,938,795...90,971,438
Ensembl chr2B:209,076,388...209,111,213

G

CD36 molecule (CD36 blood group)

protein:increased expression:heart

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

CD38 molecule

disease_progression

OMIM:222100

PMID:12488956 PMID:16459468 PMID:16920929

RGD:2307229 RGD:2307230 RGD:2307231

NCBI chr 4:10,228,803...10,295,129
Ensembl chr 4:15,525,835...15,587,677

G

CD40 molecule

protein:increased expression:plasma

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

G

CD40 ligand

treatment

protein:increased expression:serum

PMID:12419284 PMID:15448088 PMID:16505242 PMID:16611325 PMID:26716812

RGD:11344963 RGD:2314212 RGD:2314220 RGD:5491182 RGD:8547798

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

G

CD69 molecule

CTD Direct Evidence: marker/mechanism

NCBI chr12:9,800,446...9,808,874
Ensembl chr12:10,049,668...10,058,094

G

CD80 molecule

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

G

CD86 molecule

onset

protein:increased expression:dendritic cell
protein:decreased expression:macrophage,dendritic cell,T cell
protein:decreased expression:dendritic cell
human gene in mouse model
protein:decreased expression:dendritic cells

PMID:10679081 PMID:12742378 PMID:15356107 PMID:16232222 PMID:17947667 More...

RGD:2313906 RGD:2313911 RGD:2313917 RGD:2313920 RGD:2313927 RGD:4892258

NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339

G

cyclin dependent kinase 4

OMIM:222100

NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876

G

carboxyl ester lipase

ClinVar Annotator: match by term: Diabetes mellitus type 1

PMID:18414213 PMID:25741868

NCBI chr 9:104,180,310...104,191,434
Ensembl chr 9:132,810,986...132,821,010

G

complement factor B

DNA:polymorphism
protein:increased expression:serum

PMID:3907907 PMID:19000152

RGD:2311335 RGD:2311338

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

G

chitinase 3 like 1

protein:increased secretion:serum (human)

NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229

G

cholinergic receptor muscarinic 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796

G

C-type lectin domain containing 16A

DNA:polymorphism:intron:rs2903692A
DNA:polymorphism:intron:rs725613 (human)
CTD Direct Evidence: marker/mechanism

PMID:17632545 PMID:18946483 PMID:19221398

RGD:2313978 RGD:5491176

NCBI chr16:9,887,877...10,124,500
Ensembl chr16:11,109,869...11,343,512

G

ceruloplasmin

CTD Direct Evidence: marker/mechanism

PMID:17603912 PMID:20012460

NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544

G

C-reactive protein

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

PMID:20012460 PMID:22864910

RGD:6906966 RGD:8547537

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

G

cytotoxic T-lymphocyte associated protein 4

DNA:SNP:promoter:-1661A>G (human)
DNA:SNP:CDS:49A>G, G allele significantly associated with T1DM in Italian and Spanish populations (p=0.004 for individual populations, p=0.0001 for combined I+S)
DNA:SNP:CDS, 3' utr:49G>A (rs231775), rs3087243 (human)

PMID:8817351 PMID:9259273 PMID:16671945 PMID:18443194

RGD:1300385 RGD:2301958 RGD:2301974 RGD:2301995

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

G

cathepsin B

susceptibility

NCBI chr 8:7,333,498...7,359,264

G

cathepsin H

CTD Direct Evidence: marker/mechanism

NCBI chr15:57,893,379...57,917,194
Ensembl chr15:76,852,668...76,876,976

G

cathepsin L

susceptibility

NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303

G

C-X-C motif chemokine ligand 10

protein:increased expression:serum

PMID:16148094 PMID:16339582 PMID:19046227

RGD:2311358 RGD:2311362 RGD:2311363

NCBI chr 4:48,182,355...48,184,733
Ensembl chr 4:54,020,204...54,022,606

G

C-X-C motif chemokine ligand 12

onset
no_association

DNA:polymorphism:3' utr (human)
mRNA:increased expression:bone marrow

PMID:11334429 PMID:12383202 PMID:14522095 PMID:14679085 PMID:18793419

RGD:2301942 RGD:2306560 RGD:2306561 RGD:2306562 RGD:2306563

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

G

cytochrome P450 family 27 subfamily B member 1

susceptibility

DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)
DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)

PMID:17223345 PMID:17606874

RGD:2307311 RGD:2307312

NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822

G

cytochrome P450 family 2 subfamily E member 1

mRNA:increased expression:leukocyte

Ensembl chr10:134,839,025...134,852,719

G

cytochrome P450 family 2 subfamily R member 1

susceptibility

DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)

NCBI chr11:14,960,651...14,989,083
Ensembl chr11:14,656,939...14,671,584

G

DNA damage inducible transcript 3

CTD Direct Evidence: marker/mechanism

NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701

G

DExD-box helicase 39B

NCBI chr 6:31,191,333...31,203,246
Ensembl chr 6:32,081,210...32,092,569

G

DNA methyltransferase 3 beta

mRNA:increased expression:CD4+ T cell:

NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487

G

dedicator of cytokinesis 8

NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910

G

dipeptidyl peptidase 4

NCBI chr2B:49,285,685...49,368,056
Ensembl chr2B:166,654,659...166,736,588

G

dual specificity phosphatase 1

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

G

E2F transcription factor 1

E2f1/E2f2 double knockout
OMIM:222100

NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604

G

E2F transcription factor 2

E2f1/E2f2 double knockout

NCBI chr 1:22,696,695...22,722,840
Ensembl chr 1:23,683,293...23,707,951

G

endothelin 1

protein:increased secretion:plasma (human)

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

G

epidermal growth factor receptor

protein:decreased phosphorylation:liver (rat)

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

eukaryotic translation initiation factor 2 alpha kinase 3

DNA:polymorphism

NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468

G

ETS proto-oncogene 1, transcription factor

DNA:polymorphism (human)

PMID:1686010 PMID:1982251

RGD:2313850 RGD:2313901

NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673

G

coagulation factor VII

protein:increased activity, expression:plasma (human)
associated with Kidney Failure; protein:increased expression:plasma (human)
DNA:polymorphism:cds:R353Q (human)

PMID:9686915 PMID:11146704 PMID:11297753 PMID:15860378

RGD:2312383 RGD:2312384 RGD:2312385 RGD:2312389

NCBI chr13:94,246,694...94,261,133
Ensembl chr13:113,315,868...113,329,995

G

fatty acid desaturase 2

treatment

associated with hypertension

NCBI chr11:57,192,881...57,232,574
Ensembl chr11:60,476,082...60,591,649

G

Fas cell surface death receptor

protein:increased expression:insulin-secreting cells

PMID:9254659 PMID:19120316

RGD:2315742 RGD:2315754

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

G

Fas ligand

OMIM:222100
mRNA:decreased expression:lymphocyte
protein:increased expression:lymphocyte

PMID:16180659 PMID:17324464 PMID:19120316

RGD:2315742 RGD:2315748 RGD:2315751

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

fibroblast growth factor 21

CTD Direct Evidence: therapeutic

NCBI chr19:45,755,466...45,758,472

G

forkhead box O1

protein:altered localization:nucleus,liver cell:

NCBI chr13:21,763,729...21,874,279

G

forkhead box P3

susceptibility

associated with Autoimmune Diseases;DNA:mutations: :multiple (human)
ClinVar Annotator: match by term: Diabetes mellitus type 1

PMID:11137992 PMID:25741868

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

alpha-L-fucosidase 1

protein:decreased activity:plasma

NCBI chr 1:23,039,126...23,060,514
Ensembl chr 1:24,022,967...24,043,850

G

glucose-6-phosphatase catalytic subunit 2

OMIM:222100

NCBI chr2B:56,178,623...56,187,394
Ensembl chr2B:173,643,660...173,652,424

G

glucose-6-phosphate dehydrogenase

protein:decreased expression:erythrocyte

NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674

G

glutamate decarboxylase 2

susceptibility
onset

OMIM:222100

PMID:18005036 PMID:19085183 PMID:19188044 PMID:19741189

RGD:2313289 RGD:2313292 RGD:2313294 RGD:2313296

NCBI chr10:26,392,877...26,481,859
Ensembl chr10:26,759,243...26,843,197

G

galanin and GMAP prepropeptide

protein:increased expression:plasma
mRNA, protein:increased expression:celiac ganglion

PMID:16060906 PMID:16487586

RGD:1624331 RGD:2313736

NCBI chr11:63,770,758...63,777,421
Ensembl chr11:67,075,547...67,081,696

G

GATA binding protein 4

ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus

PMID:20854389 PMID:24033266 PMID:24696446 PMID:25741868 PMID:27810688 More...

NCBI chr 8:7,442,921...7,526,731

G

GATA binding protein 6

ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus

PMID:22158542 PMID:23223019 PMID:25706805 PMID:25741868 PMID:28492532 More...

NCBI chr18:15,411,764...15,444,402

G

GC vitamin D binding protein

DNA:polymorphism:exon:p.D416E(human)

NCBI chr 4:52,431,196...52,473,762
Ensembl chr 4:58,729,236...58,792,073

G

growth hormone receptor

mRNA, protein:decreased expression:kidney, liver

PMID:11469393 PMID:12054124

RGD:2307366 RGD:2307367

NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278

G

GTPase, IMAP family member 5

DNA:frameshift deletion

PMID:12031988 PMID:12097339

RGD:619544 RGD:633092

NCBI chr 7:142,319,479...142,326,035

G

GLIS family zinc finger 3

CTD Direct Evidence: marker/mechanism

NCBI chr 9:3,633,416...4,125,420
Ensembl chr 9:3,827,712...4,300,658

G

glutathione peroxidase 3

protein:decreased activity:plasma (human)

NCBI chr 5:146,447,939...146,456,476

G

glutathione S-transferase mu 1

onset

Ensembl chr 1:127,979,238...128,010,411

G

histone deacetylase 1

protein:increased expression:pancreatic beta cell:

NCBI chr 1:31,578,373...31,619,970
Ensembl chr 1:32,585,791...32,626,410

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histone deacetylase 2

protein:decreased expression:pancreatic beta cell:

NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004

G

histone deacetylase 3

protein:decreased expression:pancreatic beta cell:

NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322

G

HNF1 homeobox A

ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Type I diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus

PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More...

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

G

hydroxysteroid 11-beta dehydrogenase 2

CTD Direct Evidence: marker/mechanism

PMID:11916625 PMID:16616286

RGD:2308923 RGD:2308924

NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417

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islet amyloid polypeptide

protein:decreased expression:plasma

PMID:19033417 PMID:19190104

RGD:2313356 RGD:2313357

NCBI chr12:64,918,000...64,925,191
Ensembl chr12:67,520,986...67,528,103

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islet cell autoantigen 1

onset

mRNA, protein:decreased expression:thymus gland

PMID:8647206 PMID:11751995 PMID:14679103

RGD:2311486 RGD:2311487 RGD:2311488

NCBI chr 7:8,838,319...8,992,433
Ensembl chr 7:8,188,479...8,314,556

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intercellular adhesion molecule 1

susceptibility

protein:increased expression:plasma
DNA:polymorphism

PMID:16978373 PMID:19373518

RGD:1625758 RGD:2313468

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

G

interferon gamma

OMIM:222100
CTD Direct Evidence: marker/mechanism

RGD
MouseDO
CTD

PMID:8977415 PMID:18644830 PMID:21340626

RGD:10755748 RGD:2311493

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

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interferon gamma receptor 2

OMIM:222100

NCBI chr21:19,760,314...19,794,851
Ensembl chr21:33,135,048...33,169,137

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insulin like growth factor 1

severity

CTD Direct Evidence: therapeutic

PMID:15356074 PMID:16887362 PMID:19156625 PMID:24632065

RGD:2306688 RGD:2313765 RGD:2313769

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

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insulin like growth factor 2

mRNA, protein:decreased expression:thymus

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

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insulin like growth factor 2 receptor

DNA:SNP (human)

NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762

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insulin like growth factor binding protein 3

severity

PMID:15356074 PMID:16887362

RGD:2313765 RGD:2313769

NCBI chr 7:46,564,234...46,573,145

G

interleukin 10

CTD Direct Evidence: marker/mechanism

PMID:17997340 PMID:19430480

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

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interleukin 15

protein:increased expression:serum

PMID:16098919 PMID:17670937

RGD:2313574 RGD:2313577

NCBI chr 4:133,693,995...134,115,470
Ensembl chr 4:145,402,111...145,416,622

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interleukin 18

protein:increased expression:serum

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

G

interleukin 19

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748

G

interleukin 1 alpha

protein:increased expression:small intestine mucosa
mRNA:increased expression:pancreatic islet, leukocyte

PMID:2405400 PMID:8612552 PMID:12941768 PMID:17953531

RGD:2311064 RGD:2311065 RGD:2311067 RGD:2311075

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

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interleukin 1 beta

mRNA:increased expression:peripheral blood, leukocyte (human)

PMID:1797022 PMID:21848584

RGD:7175335 RGD:7401233

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

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interleukin 1 receptor type 1

DNA:polymorphism
OMIM:222100
DNA:SNP (human)
protein:decreased expression:pancreatic islet

PMID:7835294 PMID:8911996 PMID:11197691

RGD:2311068 RGD:2311106 RGD:6892703

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

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interleukin 1 receptor antagonist

protein:increased expression:serum (human)
mouse model treated with human protein

PMID:9112337 PMID:9158104

RGD:6907403 RGD:6907407

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

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interleukin 2

onset

PMID:3514237 PMID:17670937

RGD:10047089 RGD:2313574

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

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interleukin 20

CTD Direct Evidence: marker/mechanism

NCBI chr 1:182,468,571...182,472,440
Ensembl chr 1:186,747,086...186,750,952

G

interleukin 21

treatment
susceptibility

associated with Arenaviridae infectious disease

PMID:27300756 PMID:28711285

RGD:127285370 RGD:127285590

NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915

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interleukin 21 receptor

Ensembl chr16:27,774,864...27,821,769

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interleukin 27

CTD Direct Evidence: marker/mechanism

G

interleukin 2 receptor subunit alpha

onset

DNA:SNPs
CTD Direct Evidence: marker/mechanism

PMID:17676041 PMID:19106270 PMID:19119414 PMID:19701192 PMID:30224649

RGD:2311527 RGD:2311528

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

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interleukin 2 receptor subunit beta

ameliorates

NCBI chr22:18,039,469...18,069,952
Ensembl chr22:35,874,898...35,899,038

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interleukin 4

OMIM:222100

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

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interleukin 6

susceptibility

ClinVar Annotator: match by term: Diabetes mellitus, type 1, susceptibility to

PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More...

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

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insulin

susceptibility
treatment

associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)
ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus | ClinVar Annotator: match by term: Type I diabetes mellitus
human protein in a mouse model
human gene in a mouse model

PMID:11921414 PMID:16113600 PMID:16382177 PMID:17284779 PMID:17855560 More...

RGD:150340605 RGD:150340606 RGD:150340608 RGD:150340612 RGD:150340615 RGD:150340616

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

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interleukin 1 receptor associated kinase 3

OMIM:222100

NCBI chr12:22,661,613...22,721,203
Ensembl chr12:23,168,346...23,227,148

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ISL LIM homeobox 1

DNA:SNPs: :multiple (human)

NCBI chr 5:62,635,095...62,650,141
Ensembl chr 5:64,252,715...64,264,674

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integrin subunit alpha 2

protein:altered expression:thymocyte (mouse)

NCBI chr 5:60,935,452...61,040,726
Ensembl chr 5:62,555,370...62,659,720

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integrin subunit alpha 4

treatment

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

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inositol 1,4,5-trisphosphate receptor type 3

NCBI chr 6:33,194,531...33,269,788
Ensembl chr 6:34,303,454...34,378,215

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potassium inwardly rectifying channel subfamily J member 11

ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus

PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 More...

NCBI chr11:17,440,522...17,444,075
Ensembl chr11:17,127,557...17,128,729

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galectin 3

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

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lipase C, hepatic type

protein:decreased expression:plasma (human)

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

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somatotropin

protein:increased expression:serum

PMID:2888037 PMID:3097114 PMID:7298798

RGD:2315674 RGD:2315684 RGD:2315685

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

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HLA class II histocompatibility antigen, DQ beta 1 chain

onset
susceptibility

DNA:polymorphisms, haplotypes:cds:multiple (human)
associated with Sclerosing Lymphocytic Lobulitis
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human)

PMID:10562813 PMID:17728790 PMID:20510319 PMID:20858521 PMID:26168013 More...

RGD:11041764 RGD:14865008 RGD:5147569 RGD:5147575 RGD:5147626

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

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HLA class II histocompatibility antigen, DR alpha chain

NCBI chr 6:32,105,421...32,110,579
Ensembl chr 6:32,982,228...32,987,417

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HLA class II histocompatibility antigen, DP beta 1 chain

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

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HLA class II histocompatibility antigen, DP alpha 1 chain

NCBI chr 6:32,637,826...32,646,501
Ensembl chr 6:33,752,638...33,761,417

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lymphotoxin alpha

treatment
onset
susceptibility

DNA:polymorphism: :252A>G (human)
protein:decreased expression:mononuclear cell
DNA:polymorphism: :249A>G (human)
DNA:SNP (human)

PMID:8242903 PMID:9342542 PMID:11141334 PMID:12622777 PMID:17989340 More...

RGD:2313253 RGD:2313257 RGD:2313262 RGD:2313263 RGD:2313264 RGD:8548842

NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375

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mucosal vascular addressin cell adhesion molecule 1

PMID:9313747 PMID:17827401

RGD:2311544 RGD:2311545

NCBI chr19:627,526...636,684
Ensembl chr19:468,026...477,830

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methyl-CpG binding domain protein 2

OMIM:222100

NCBI chr18:47,534,356...47,609,481

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mannose binding lectin 2

no_association

NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432

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matrix metallopeptidase 9

protein:increased expression:kidney

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

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methylenetetrahydrofolate reductase

severity

DNA:transversion:cds:g.1298A>C (human)

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

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neural cell adhesion molecule 1

onset

protein:increased expression:pancreatic islet

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

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neuronal differentiation 1

no_association

DNA:polymorphism: :p.A45T (human)
DNA:polymorphism:exon

PMID:15047635 PMID:16357810 PMID:16909454

RGD:2313481 RGD:2313483 RGD:2313487

NCBI chr2B:68,939,341...68,943,516

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noggin

mRNA, protein:increased expression:aorta

NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092

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nitric oxide synthase 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:114,784,232...114,938,385
Ensembl chr12:118,163,655...118,314,005

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nitric oxide synthase 2

OMIM:222100

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

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nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

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

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notch receptor 4

DNA: SNP: 5' utr: rs2395106

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

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paired box 4

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :p.R133W (human)

PMID:15509590 PMID:15834548

RGD:2311633 RGD:2311634

NCBI chr 7:119,605,924...119,613,579
Ensembl chr 7:132,260,859...132,268,516

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proprotein convertase subtilisin/kexin type 1

protein:increased expression:pancreatic islet (mouse)

NCBI chr 5:18,917,488...18,960,102
Ensembl chr 5:19,064,004...19,106,486

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pancreatic and duodenal homeobox 1

OMIM:222100

NCBI chr13:9,199,572...9,206,202

G

plasminogen activator, tissue type

NCBI chr 8:41,419,415...41,451,951
Ensembl chr 8:38,864,918...38,897,779

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paraoxonase 1

protein:decreased expression:serum

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

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peroxisome proliferator activated receptor alpha

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

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PPARG coactivator 1 alpha

mRNA:altered expression:heart, brain, mitochondrion (mouse)

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

pro-platelet basic protein

NCBI chr 4:50,203,168...50,204,303
Ensembl chr 4:56,035,060...56,037,702

G

perforin 1

OMIM:222100

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

G

protein kinase C theta

CTD Direct Evidence: marker/mechanism

NCBI chr10:6,458,138...6,610,781
Ensembl chr10:6,440,316...6,593,900

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proline rich coiled-coil 2A

onset

DNA:polymorphism

PMID:10987645 PMID:15842729

RGD:2306963 RGD:2306964

NCBI chr 6:31,281,722...31,298,825
Ensembl chr 6:32,171,621...32,188,729

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proteasome 20S subunit beta 9

NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402

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pancreas associated transcription factor 1a

ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus

PMID:18591390 PMID:28492532

NCBI chr10:23,356,165...23,359,579

G

parathyroid hormone

DNA:snp:exon:g.350C>A rs6256 (human)

NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802

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protein tyrosine phosphatase non-receptor type 22

onset
susceptibility

DNA: snp: cds: C1858T
CTD Direct Evidence: marker/mechanism

PMID:15004560 PMID:21190368 PMID:21873553 PMID:30224649

RGD:6484524 RGD:6484692

NCBI chr 1:88,685,736...88,743,164
Ensembl chr 1:123,734,511...123,790,830

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protein tyrosine phosphatase receptor type N

PMID:7568143 PMID:19741189

RGD:2313289 RGD:729710

NCBI chr2B:106,547,156...106,567,056
Ensembl chr2B:225,138,887...225,206,700

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protein tyrosine phosphatase receptor type N2

OMIM:222100

PMID:12419281 PMID:18193190

RGD:2311682 RGD:2311684

NCBI chr 7:149,158,513...150,390,077
Ensembl chr 7:160,851,703...161,756,325

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RAN, member RAS oncogene family

human gene in a mouse model

NCBI chr12:128,497,407...128,503,049
Ensembl chr12:132,694,498...132,699,668

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RNA binding fox-1 homolog 2

mRNA:splice variant: heart (mouse)

NCBI chr22:16,740,707...17,031,415
Ensembl chr22:34,586,044...34,870,257

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resistin

protein:decreased expression:serum

NCBI chr19:6,958,536...6,960,032
Ensembl chr19:7,812,942...7,814,909

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selectin E

protein:increased expression:serum

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

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selectin L

OMIM:222100

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

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SUMO specific peptidase 1

OMIM:222100

NCBI chr12:40,624,200...40,689,837
Ensembl chr12:41,507,348...41,558,969

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serpin family A member 7

protein:decreased expression:serum

NCBI chr X:95,163,842...95,169,230
Ensembl chr X:105,541,475...105,548,132

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serpin family F member 1

protein:increased expression:serum

NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

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SH2B adaptor protein 3

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP: : (rs3184504) (human)
DNA:missense mutation:exon: (rs3184504) (human)

PMID:21829393 PMID:21873553 PMID:30224649

RGD:153297780 RGD:6484692

NCBI chr12:108,977,344...109,024,029

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solute carrier family 11 member 1

susceptibility

DNA:SNP:intron:rs3731865 (human)
DNA:polymorphism: :274C>T (human)
CTD Direct Evidence: marker/mechanism
DNA:repeat:promoter (human)

PMID:15877293 PMID:16550170 PMID:16597321 PMID:19768110 PMID:21524304

RGD:5684926 RGD:5684932 RGD:5684950 RGD:5684955

NCBI chr2B:105,640,613...105,655,524
Ensembl chr2B:224,238,284...224,252,941

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solute carrier family 18 member A2

protein:decreased expression:pancreas (human)

PMID:16710474 PMID:19223416

RGD:2317333 RGD:5131199

NCBI chr10:113,823,005...113,862,451
Ensembl chr10:117,250,639...117,290,064

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solute carrier family 29 member 3

CTD Direct Evidence: marker/mechanism

PMID:19336477 PMID:20140240

NCBI chr10:67,789,060...67,833,278
Ensembl chr10:70,317,882...70,358,482

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superoxide dismutase 1

DNA:polymorphism:intron:IVS3+35A>C (rs2234694) (human)

NCBI chr21:18,029,831...18,037,526

G

superoxide dismutase 2

DNA:polymorphism: :p.A16V (human)

NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960

G

sterol regulatory element binding transcription factor 2

NCBI chr22:22,725,790...22,799,749
Ensembl chr22:40,811,459...40,884,947

G

signal transducer and activator of transcription 3

CTD Direct Evidence: marker/mechanism

NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067

G

signal transducer and activator of transcription 4

OMIM:222100

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

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transporter 1, ATP binding cassette subfamily B member

DNA:insertion:intron (human)
DNA:polymorphisms (human)
DNA:mutation:promoter (mouse)

PMID:9129974 PMID:9300732 PMID:9458110

RGD:2312369 RGD:2312370 RGD:2312371

NCBI chr 6:32,414,665...32,423,488
Ensembl chr 6:33,530,171...33,538,978

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transporter 2, ATP binding cassette subfamily B member

PMID:1300236 PMID:17192492

RGD:2312368 RGD:2312373

NCBI chr 6:32,394,586...32,408,297
Ensembl chr 6:33,507,332...33,523,750

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TATA-box binding protein

no_association
susceptibility

DNA:repeat:cds:g.172(CAG/CAA)38 (human)

PMID:15381080 PMID:15850778

RGD:5684348 RGD:5684349

NCBI chr 6:168,714,214...168,732,744
Ensembl chr 6:173,800,240...173,826,909

G

transferrin

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

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transforming growth factor beta 1

protein:increased expression:urine

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

G

tyrosine hydroxylase

ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus

PMID:11921414 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 More...

NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433

G

thrombomodulin

disease_progression

protein:increased expression:plasma

NCBI chr20:22,992,341...22,996,415
Ensembl chr20:23,345,917...23,347,812

G

TIMP metallopeptidase inhibitor 1

protein:increased expression:serum

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

G

TIMP metallopeptidase inhibitor 2

protein:increased expression:serum

NCBI chr17:72,928,692...73,001,892
Ensembl chr17:78,476,807...78,495,649

G

toll like receptor 2

no_association

DNA:SNP: :rs3804100 (human)
DNA:SNP: :1350T>C (human)
protein:increased expression:monocyte

PMID:15699513 PMID:17130564 PMID:17707128 PMID:18029454 PMID:19148143

RGD:2312679 RGD:2312683 RGD:2312684 RGD:2312686 RGD:2312687

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

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toll like receptor 3

DNA:snps:intron:g.2593C>T rs5743313, g.2642C>A rs5743315, g.2690A>G (human)

NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728

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toll like receptor 4

protein:increased expression:monocyte

PMID:16728431 PMID:18029454

RGD:2312492 RGD:2312683

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

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tumor necrosis factor

susceptibility

DNA:SNP (human)
CTD Direct Evidence: marker/mechanism

PMID:19120272 PMID:23640034

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

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TNF superfamily member 10

PMID:12882912 PMID:18057577

RGD:2312740 RGD:2312743

NCBI chr 3:169,512,491...169,530,706
Ensembl chr 3:177,694,021...177,712,137

G

TNF superfamily member 4

OMIM:222100

NCBI chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845
Ensembl chr 1:152,391,450...152,415,845

G

tyrosine kinase 2

ClinVar Annotator: match by term: Virus-induced diabetes

NCBI chr19:9,901,612...9,932,623
Ensembl chr19:10,565,490...10,594,541

G

uncoupling protein 3

NCBI chr11:69,072,143...69,085,424
Ensembl chr11:72,380,180...72,389,274

G

vav guanine nucleotide exchange factor 1

mRNA, protein:increased expression:thymus

NCBI chr19:5,805,121...5,888,203
Ensembl chr19:6,726,578...6,806,112

G

vascular cell adhesion molecule 1

associated with Kidney Failure, Chronic;protein:increased expression:artery:

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

G

vasoactive intestinal peptide

NCBI chr 6:150,564,545...150,573,582
Ensembl chr 6:155,254,652...155,263,730

G

von Willebrand factor

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

G

wolframin ER transmembrane glycoprotein

no_association

DNA:missense mutation: :p.R456H (human)
DNA:mutations:exons, 5' utr, 3' utr:multiple

PMID:10679252 PMID:15008830 PMID:15056606

RGD:8694393 RGD:8694396 RGD:8694402

Ensembl chr 4:6,345,864...6,379,287

G

xylosyltransferase 1

DNA:missense mutation, polymorphisms:cds, intron :p.A115S, IVS3+10C>T, IVS3+30G>C (human)

NCBI chr16:20,078,904...20,447,268
Ensembl chr16:17,222,447...17,470,818

G

YY1 transcription factor

treatment

DNA:SNPs:intron

PMID:15234341 PMID:15619288

RGD:9588271 RGD:9588274

NCBI chr14:80,859,491...80,903,651

autosomal dominant Wolfram syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase 13

ClinVar Annotator: match by term: Wolfram-like disorder

PMID:25741868 PMID:28492532 PMID:33879837

NCBI chr 7:44,138,345...44,285,606
Ensembl chr 7:44,177,204...44,324,683

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant

PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More...

Ensembl chr 4:6,345,864...6,379,287

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 4

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:42,396,399...42,406,725
Ensembl chr X:50,109,367...50,119,658

G

A-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,997,026...40,007,783
Ensembl chr X:47,893,153...47,904,643

G

bone morphogenetic protein 15

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:43,071,039...43,076,941
Ensembl chr X:50,783,925...50,791,369

G

calcium voltage-gated channel subunit alpha1 F

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,504,804...41,533,501
Ensembl chr X:49,356,994...49,385,678

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,341,834...41,367,761
Ensembl chr X:49,207,391...49,223,552

G

coiled-coil domain containing 22

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:19471859 PMID:28492532 PMID:30443250

NCBI chr X:41,535,439...41,550,547
Ensembl chr X:49,387,980...49,402,742

G

cyclin B3

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:42,409,954...42,511,811
Ensembl chr X:50,157,122...50,223,547

G

cyclin dependent kinase 16

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,655,119...39,666,878
Ensembl chr X:47,512,647...47,524,742

G

complement factor properdin

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,060,106...40,066,720
Ensembl chr X:47,956,191...47,961,965

G

chloride voltage-gated channel 5

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:42,137,523...42,299,716
Ensembl chr X:49,854,165...50,006,363

G

diacylglycerol kinase kappa

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:42,525,307...42,630,539
Ensembl chr X:50,240,773...50,342,050

G

dedicator of cytokinesis 8

DNA:mutations:cds:c.2402 ��1G>A,c.1498 C>T (p.R500X)(human)

NCBI chr 9:6,791...256,837
Ensembl chr 9:201,156...446,910

G

EBP cholestenol delta-isomerase

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,820,042...40,826,957

G

ETS transcription factor ELK1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,071,433...40,086,518
Ensembl chr X:47,967,492...47,982,579

G

ES cell expressed Ras

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,125,895...41,127,757
Ensembl chr X:48,986,812...48,987,513

G

forkhead box P3

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:3375136 PMID:9536098 PMID:10706361 PMID:11120765 PMID:11137992 More...

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

FtsJ RNA 2'-O-methyltransferase 1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,774,056...40,784,290
Ensembl chr X:48,638,454...48,648,779

G

GATA binding protein 1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,088,724...41,092,190
Ensembl chr X:48,945,394...48,953,126

G

glyoxalase domain containing 5

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,060,152...41,071,654
Ensembl chr X:48,920,747...48,932,442

G

G-patch domain and KOW motifs

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,413,165...41,423,780
Ensembl chr X:49,267,657...49,278,495

G

GRIP1 associated protein 1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,271,762...41,300,327
Ensembl chr X:49,128,760...49,157,059

G

histone deacetylase 6

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642

G

jade family PHD finger 3

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,347,038...39,496,236
Ensembl chr X:47,278,395...47,354,732

G

potassium voltage-gated channel subfamily D member 1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,258,803...41,270,036
Ensembl chr X:49,115,933...49,127,030

G

protein SSX3

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,644,582...40,655,665
Ensembl chr X:48,538,111...48,548,447

G

MAGI family member, X-linked

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

Ensembl chr X:49,315,253...49,318,703

G

NADH:ubiquinone oxidoreductase subunit B11

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,579,460...39,582,462
Ensembl chr X:47,437,573...47,440,578

G

OTU deubiquitinase 5

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,219,536...41,256,219

G

PAGE family member 1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr  X:41,902,094...41,908,385
Ensembl chr  X:49,616,560...49,624,799
Ensembl chr  X:49,616,560...49,624,799

G

PAGE family member 4

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:42,044,199...42,048,954
Ensembl chr X:49,758,858...49,763,611

G

proprotein convertase subtilisin/kexin type 1 inhibitor

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,128,785...41,133,284
Ensembl chr X:48,988,948...48,990,028

G

Pim-2 proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,210,494...41,216,552
Ensembl chr X:49,068,721...49,074,731

G

proteolipid protein 2

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,473,985...41,474,882
Ensembl chr X:49,324,176...49,328,698

G

porcupine O-acyltransferase

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,807,151...40,819,069
Ensembl chr X:48,671,829...48,682,980

G

protein phosphatase 1 regulatory subunit 3F

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,569,825...41,587,523

G

polyglutamine binding protein 1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,188,244...41,200,312
Ensembl chr X:49,053,030...49,058,585

G

PRA1 domain family member 2

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,369,432...41,372,322
Ensembl chr X:49,224,864...49,233,960

G

prickle planar cell polarity protein 3

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,474,569...41,486,986
Ensembl chr X:49,327,145...49,338,613

G

RNA binding motif protein 10

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,582,480...39,623,749
Ensembl chr X:47,440,815...47,481,204

G

RNA binding motif protein 3

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,872,745...40,876,611
Ensembl chr X:48,734,777...48,738,077

G

regucalcin

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,513,135...39,530,188
Ensembl chr X:47,371,226...47,388,881

G

RP2 activator of ARL3 GTPase

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,274,103...39,319,832
Ensembl chr X:47,133,639...47,178,608

G

shroom family member 4

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:42,673,968...42,974,947
Ensembl chr X:50,464,824...50,687,221

G

solute carrier family 35 member A2

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

Ensembl chr X:49,058,622...49,067,821

G

solute carrier family 38 member 5

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,756,423...40,768,327
Ensembl chr X:48,621,018...48,632,682

G

solute carrier family 9 member A7

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,037,499...39,197,421
Ensembl chr X:46,906,644...47,057,705

G

sperm acrosome associated 5

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,435,554...40,441,190

G

SSX family member 4B

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,681,040...40,691,457

G

SUV39H1 histone lysine methyltransferase

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,993,911...41,007,362
Ensembl chr X:48,855,494...48,868,131

G

synapsin I

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,007,777...40,055,801

G

synaptophysin

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,487,538...41,500,039
Ensembl chr X:49,340,021...49,352,420

G

TBC1 domain family member 25

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,837,887...40,860,885
Ensembl chr X:48,701,740...48,724,366

G

transcription factor binding to IGHM enhancer 3

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,326,802...41,341,574
Ensembl chr X:49,182,795...49,197,194

G

translocase of inner mitochondrial membrane 17B

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,191,130...41,195,561
Ensembl chr X:49,049,175...49,053,452

G

TIMP metallopeptidase inhibitor 1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

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

G

ubiquitin like modifier activating enzyme 1

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,627,753...39,652,023
Ensembl chr X:47,493,331...47,509,654

G

ubiquitin specific peptidase 11

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,669,761...39,685,231
Ensembl chr X:47,527,673...47,542,638

G

ubiquitin specific peptidase 27 X-linked

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:42,093,799...42,097,346
Ensembl chr X:49,809,559...49,810,875

G

ubiquitously expressed prefoldin like chaperone

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,087,712...40,095,164
Ensembl chr X:47,983,770...47,991,148

G

WASP actin nucleation promoting factor

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

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

G

WD repeat domain 13

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,895,793...40,907,183
Ensembl chr X:48,757,416...48,765,111

G

WD repeat domain 45

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:41,372,722...41,400,441
Ensembl chr X:49,224,864...49,233,960

G

zinc finger protein 157

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,802,953...39,852,227
Ensembl chr X:47,699,782...47,746,867

G

zinc finger protein 182

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,404,284...40,435,360
Ensembl chr X:48,298,563...48,394,699

G

zinc finger protein 41

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:39,881,999...39,922,058
Ensembl chr X:47,777,784...47,818,791

G

zinc finger protein 630

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,488,548...40,502,832
Ensembl chr X:48,298,563...48,394,699

G

zinc finger protein 81

ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome

PMID:11137992 PMID:11137993 PMID:28492532

NCBI chr X:40,258,879...40,355,254
Ensembl chr X:48,153,161...48,239,640

latent autoimmune diabetes in adults

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytotoxic T-lymphocyte associated protein 4

DNA:SNP: :49A>G (human)

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

G

small ubiquitin like modifier 4

ClinVar Annotator: match by term: Type 1 diabetes mellitus 5

PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137

NCBI chr 6:147,219,279...147,221,125

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

ClinVar Annotator: match by term: Type 1 diabetes mellitus 5

PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137

NCBI chr 6:147,138,553...147,231,559
Ensembl chr 6:151,868,513...151,936,841

Mauriac Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphorylase kinase catalytic subunit gamma 2

ClinVar Annotator: match by term: Mauriac syndrome

PMID:27207549 PMID:28492532

NCBI chr16:24,211,929...24,221,756
Ensembl chr16:31,115,033...31,127,216

type 1 diabetes mellitus 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 2 receptor subunit alpha

ClinVar Annotator: match by term: Type 1 diabetes mellitus 10

PMID:9536098 PMID:17576681 PMID:17676041 PMID:25741868 PMID:28492532

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

type 1 diabetes mellitus 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cytotoxic T-lymphocyte associated protein 4

ClinVar Annotator: match by term: Type 1 diabetes mellitus 12

PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More...

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

type 1 diabetes mellitus 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin heavy chain 9

ClinVar Annotator: match by term: Type 1 diabetes mellitus 17

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

type 1 diabetes mellitus 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

insulin like growth factor 2

OMIM:125852

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

insulin

ClinVar Annotator: match by term: Type 1 diabetes mellitus 2

PMID:11921414 PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 More...

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

lipase C, hepatic type

ClinVar Annotator: match by term: Type 1 diabetes mellitus 2

PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More...

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

G

tyrosine hydroxylase

ClinVar Annotator: match by term: Type 1 diabetes mellitus 2

PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More...

NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433

type 1 diabetes mellitus 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HNF1 homeobox A

ClinVar Annotator: match by term: Diabetes mellitus, insulin-dependent, 20 | ClinVar Annotator: match by term: Type 1 diabetes mellitus 20

PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More...

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

type 1 diabetes mellitus 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 5

susceptibility

ClinVar Annotator: match by term: Type 1 diabetes mellitus 22

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

type 1 diabetes mellitus 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

small ubiquitin like modifier 4

ClinVar Annotator: match by term: Type 1 diabetes mellitus 5

PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137

NCBI chr 6:147,219,279...147,221,125

G

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

ClinVar Annotator: match by term: Type 1 diabetes mellitus 5

PMID:15123604 PMID:15247916 PMID:15678134 PMID:15678135 PMID:15678137

NCBI chr 6:147,138,553...147,231,559
Ensembl chr 6:151,868,513...151,936,841

type 1 diabetes mellitus 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

neuronal differentiation 1

OMIM:600321

NCBI chr2B:68,939,341...68,943,516

Wolcott-Rallison syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

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Source

PubMed Reference(s)

RGD Reference(s)

Position

G

eukaryotic translation initiation factor 2 alpha kinase 3

ClinVar Annotator: match by term: Wolcott-Rallison dysplasia

PMID:7551159 PMID:10932183 PMID:11997520 PMID:12960215 PMID:16199547 More...

NCBI chr2A:87,688,732...87,759,580
Ensembl chr2A:89,596,833...89,667,468

Wolfram syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome

PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More...

Ensembl chr 4:6,345,864...6,379,287

Wolfram syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1

PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More...

Ensembl chr 4:6,345,864...6,379,287

Wolfram syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CDGSH iron sulfur domain 2

ClinVar Annotator: match by term: Wolfram syndrome 2

PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More...

NCBI chr 4:95,251,920...95,313,404
Ensembl chr 4:105,954,880...105,975,142

G

CDGSH iron sulfur domain 3

ClinVar Annotator: match by term: Wolfram syndrome 2

NCBI chr17:18,538,545...18,543,374
Ensembl chr17:18,815,044...18,817,980

G

polycomb group ring finger 2

ClinVar Annotator: match by term: Wolfram syndrome 2

NCBI chr17:18,523,859...18,539,794
Ensembl chr17:18,798,917...18,814,838

G

solute carrier family 9 member B1

ClinVar Annotator: match by term: Wolfram syndrome 2

PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532

NCBI chr 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773

Term paths to the root

Path 1
Term	Annotations
disease	15805
disease of anatomical entity	15483
endocrine system disease	6229
diabetes mellitus	1345
type 1 diabetes mellitus	287
Bangstad Syndrome	0
Mauriac Syndrome	1
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA	0
Wolcott-Rallison syndrome	1
Wolfram syndrome +	6
fulminant type 1 diabetes	0
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	67
latent autoimmune diabetes in adults	3
type 1 diabetes mellitus 10	1
type 1 diabetes mellitus 11	0
type 1 diabetes mellitus 12	1
type 1 diabetes mellitus 13	0
type 1 diabetes mellitus 15	0
type 1 diabetes mellitus 17	1
type 1 diabetes mellitus 18	0
type 1 diabetes mellitus 19	0
type 1 diabetes mellitus 2	4
type 1 diabetes mellitus 20	1
type 1 diabetes mellitus 21	0
type 1 diabetes mellitus 22	1
type 1 diabetes mellitus 23	0
type 1 diabetes mellitus 24	0
type 1 diabetes mellitus 3	0
type 1 diabetes mellitus 4	0
type 1 diabetes mellitus 5	2
type 1 diabetes mellitus 6	0
type 1 diabetes mellitus 7	1
type 1 diabetes mellitus 8	0
Path 2
Term	Annotations
disease	15805
Developmental Disease	13797
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	12848
genetic disease	12543
inherited metabolic disorder	5923
carbohydrate metabolic disorder	2827
glucose metabolism disease	1574
diabetes mellitus	1345
type 1 diabetes mellitus	287
Bangstad Syndrome	0
Mauriac Syndrome	1
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA	0
Wolcott-Rallison syndrome	1
Wolfram syndrome +	6
fulminant type 1 diabetes	0
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	67
latent autoimmune diabetes in adults	3
type 1 diabetes mellitus 10	1
type 1 diabetes mellitus 11	0
type 1 diabetes mellitus 12	1
type 1 diabetes mellitus 13	0
type 1 diabetes mellitus 15	0
type 1 diabetes mellitus 17	1
type 1 diabetes mellitus 18	0
type 1 diabetes mellitus 19	0
type 1 diabetes mellitus 2	4
type 1 diabetes mellitus 20	1
type 1 diabetes mellitus 21	0
type 1 diabetes mellitus 22	1
type 1 diabetes mellitus 23	0
type 1 diabetes mellitus 24	0
type 1 diabetes mellitus 3	0
type 1 diabetes mellitus 4	0
type 1 diabetes mellitus 5	2
type 1 diabetes mellitus 6	0
type 1 diabetes mellitus 7	1
type 1 diabetes mellitus 8	0

paths to the root