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RGD DISEASE ONTOLOGY - ANNOTATIONS

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:maturity-onset diabetes of the young
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Accession:DOID:0050524 term browser browse the term
Definition:A diabetes mellitus that has_material_basis_in mutations in the MODY genes disrupting insulin production. (DO)
Synonyms:exact_synonym: MATURITY ONSET DIABETES MELLITUS IN YOUNG;   MODY;   Mason-type diabetes
 primary_id: MESH:C562772
 alt_id: OMIM:606391;   RDO:0012347
 xref: GARD:3697;   ICD10CM:E11.8;   NCI:C114769;   ORDO:552
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
maturity-onset diabetes of the young term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar NCBI chr15:46,555,552...46,593,778
Ensembl chr15:46,555,188...46,593,653
JBrowse link
G Edem2 ER degradation enhancing alpha-mannosidase like protein 2 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar NCBI chr 3:151,232,741...151,258,559
Ensembl chr 3:151,232,751...151,258,580
JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar PMID:8068341, PMID:8168652, PMID:9049484, PMID:10426385, PMID:10525657, PMID:10753050, PMID:11508276, PMID:12442280, PMID:12627330, PMID:12955723, PMID:14517946, PMID:15277402, PMID:15305805, PMID:16602010, PMID:16731834, PMID:16965331, PMID:17079173, PMID:17186219, PMID:17389332, PMID:17573900, PMID:18414213, PMID:19790256, PMID:20337973, PMID:21348868, PMID:21521320, PMID:21831042, PMID:21921030, PMID:22028181, PMID:22335469, PMID:22389783, PMID:22540858, PMID:22820548, PMID:23433541, PMID:24033266, PMID:24097065, PMID:24568320, PMID:24578721, PMID:24918535, PMID:25015100, PMID:25306193, PMID:25414397, PMID:25525159, PMID:25555642, PMID:25741868, PMID:26467025, PMID:27080136, PMID:27935851, PMID:28012402, PMID:28842611, PMID:29284910 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar PMID:9045858, PMID:9075819, PMID:9166684, PMID:9754819, PMID:12453420, PMID:15928245, PMID:16496320, PMID:18003757, PMID:19754856, PMID:20132997, PMID:20393147, PMID:21224407, PMID:22060211, PMID:23607861, PMID:25741868, PMID:26446475, PMID:26467025, PMID:28105082, PMID:28492532, PMID:28701371, PMID:29207974, PMID:30455330, PMID:30507613 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:11845238, PMID:15660195, PMID:22432796, PMID:25536396, PMID:25700310, PMID:25705165, PMID:25741868, PMID:27297286 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
ClinVar PMID:9267996, PMID:9313765, PMID:9449683, PMID:10983627, PMID:15793260, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17573900, PMID:18811724, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29998026 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO
ISS
ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
OMIM:606391
ClinVar
MouseDO
PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Klf11 Kruppel-like factor 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar PMID:25741868 NCBI chr 6:43,829,812...43,841,649
Ensembl chr 6:43,829,945...43,841,651
JBrowse link
G Mafa MAF bZIP transcription factor A ISS OMIM:606391 MouseDO NCBI chr 7:116,779,368...116,781,815
Ensembl chr 7:116,780,681...116,781,766
JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young ClinVar PMID:15509590, PMID:18414213, PMID:25741868 NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISS
ISO
OMIM:606391
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young
MouseDO
ClinVar
PMID:10545530, PMID:10545531, PMID:10720084, PMID:11022198, PMID:11270685, PMID:11315851, PMID:11914043, PMID:15001545, PMID:15170499, PMID:15277425, PMID:15754742, PMID:16741735, PMID:17592437, PMID:19515026, PMID:21569088, PMID:24097065, PMID:25741868, PMID:26058934, PMID:26467025, PMID:28492532 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Tgm2 transglutaminase 2 ISS OMIM:606391 MouseDO NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young
ClinVar Annotator: match by term: Maturity onset diabetes of the young
ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
Fanconi renotubular syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar
PMID:20164212, PMID:22802087, PMID:24285859, PMID:25741868, PMID:25819479, PMID:27245055, PMID:28458902, PMID:28693455 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
maturity-onset diabetes of the young type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 1 ClinVar PMID:18003757, PMID:20393147, PMID:23348805, PMID:24033266 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 1
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125850
OMIM
ClinVar
CTD
PMID:193395, PMID:8945471, PMID:9294105, PMID:9313765, PMID:9920109, PMID:10227563, PMID:10389854, PMID:10592235, PMID:10606640, PMID:10768098, PMID:10819248, PMID:10983627, PMID:11043869, PMID:11272211, PMID:11435618, PMID:11575290, PMID:12050210, PMID:12110948, PMID:12193589, PMID:15123688, PMID:15281001, PMID:15793260, PMID:15826954, PMID:15830177, PMID:15928245, PMID:16223942, PMID:16883527, PMID:16917892, PMID:16946562, PMID:17407387, PMID:18414213, PMID:18811724, PMID:19478207, PMID:20164212, PMID:21105491, PMID:21115832, PMID:21683639, PMID:22140441, PMID:22232426, PMID:22802087, PMID:23247789, PMID:23348805, PMID:23485969, PMID:23551881, PMID:24033266, PMID:24097065, PMID:24285859, PMID:24947580, PMID:25041077, PMID:25414397, PMID:25555642, PMID:25631608, PMID:25741868, PMID:25819479, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:26971647, PMID:27080136, PMID:27245055, PMID:27420379, PMID:27486234, PMID:27552834, PMID:28242437, PMID:28458902, PMID:28492532, PMID:28693455, PMID:29998026, PMID:30663027 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
maturity-onset diabetes of the young type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 10 ClinVar PMID:12610512, PMID:17855560, PMID:18162506, PMID:18192540, PMID:20226046, PMID:25542748, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:272,799,784...272,800,351
Ensembl chr 1:272,799,784...272,800,347
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by OMIM:613370
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 10
ClinVar
OMIM
PMID:12610512, PMID:17855560, PMID:18162506, PMID:18192540, PMID:20226046, PMID:25542748, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 10 ClinVar PMID:12610512, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
JBrowse link
maturity-onset diabetes of the young type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 11
ClinVar Annotator: match by OMIM:613375
OMIM
ClinVar
PMID:18414213, PMID:19667185, PMID:24033266, PMID:25741868, PMID:28095440, PMID:28492532 NCBI chr15:46,555,552...46,593,778
Ensembl chr15:46,555,188...46,593,653
JBrowse link
G Fam167a family with sequence similarity 167, member A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 11 ClinVar PMID:19667185 NCBI chr15:46,613,761...46,643,771
Ensembl chr15:46,613,810...46,643,772
JBrowse link
maturity-onset diabetes of the young type 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 13
ClinVar Annotator: match by term: MODY, TYPE 13
ClinVar PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 13
ClinVar Annotator: match by term: MODY, TYPE 13
ClinVar Annotator: match by term: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
OMIM
ClinVar
PMID:8897013, PMID:9867219, PMID:10338089, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:14551916, PMID:14715863, PMID:14871556, PMID:15115830, PMID:15504982, PMID:15562009, PMID:15579791, PMID:15784703, PMID:15797964, PMID:15855351, PMID:16416420, PMID:16455067, PMID:16595597, PMID:16670688, PMID:17257281, PMID:17316607, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17673911, PMID:17823772, PMID:18250167, PMID:18290324, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:20685672, PMID:21054355, PMID:21115269, PMID:21119644, PMID:21210267, PMID:21765448, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22311976, PMID:22385882, PMID:22471336, PMID:22512215, PMID:22701567, PMID:22704848, PMID:22958899, PMID:22992668, PMID:23275527, PMID:23345197, PMID:24442125, PMID:24698822, PMID:25115353, PMID:25637631, PMID:25741868, PMID:25871929, PMID:25972930, PMID:26467025, PMID:26740944, PMID:27033559, PMID:28492532, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
maturity-onset diabetes of the young type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Appl1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 14 ClinVar
OMIM
PMID:26073777 NCBI chr16:2,560,103...2,602,035
Ensembl chr16:2,563,520...2,602,103
JBrowse link
maturity-onset diabetes of the young type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 2
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 2
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:125851
OMIM
ClinVar
CTD
PMID:1303265, PMID:1349989, PMID:1464666, PMID:1502186, PMID:1545870, PMID:1570017, PMID:7542040, PMID:7555485, PMID:8068341, PMID:8132752, PMID:8168652, PMID:8314448, PMID:8325892, PMID:8349034, PMID:8376578, PMID:8433729, PMID:8446612, PMID:8454109, PMID:8495817, PMID:8897004, PMID:9049484, PMID:9472859, PMID:9662401, PMID:9736233, PMID:10426385, PMID:10447526, PMID:10525657, PMID:10694920, PMID:10753050, PMID:10754480, PMID:11079754, PMID:11315828, PMID:11315850, PMID:11315851, PMID:11372010, PMID:11508276, PMID:11553210, PMID:11772903, PMID:11942313, PMID:12050210, PMID:12442280, PMID:12627330, PMID:12955723, PMID:14517946, PMID:14517956, PMID:15102714, PMID:15305805, PMID:15448103, PMID:15657605, PMID:15667334, PMID:15677479, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16444761, PMID:16602010, PMID:16632067, PMID:16731834, PMID:16938872, PMID:16963153, PMID:16965331, PMID:17079173, PMID:17186219, PMID:17204055, PMID:17353190, PMID:17389332, PMID:17573900, PMID:17937063, PMID:18056790, PMID:18248649, PMID:18271687, PMID:18322640, PMID:18382660, PMID:18399931, PMID:18407139, PMID:18411240, PMID:18414213, PMID:18481947, PMID:19069349, PMID:19187021, PMID:19309449, PMID:19339519, PMID:19564454, PMID:19790256, PMID:19903754, PMID:20005544, PMID:20132997, PMID:20337973, PMID:21104275, PMID:21115832, PMID:21348868, PMID:21395678, PMID:21420961, PMID:21437567, PMID:21518409, PMID:21521320, PMID:21569204, PMID:21604084, PMID:21720051, PMID:21831042, PMID:21921030, PMID:22028181, PMID:22060211, PMID:22291974, PMID:22335469, PMID:22389783, PMID:22493702, PMID:22540858, PMID:22611063, PMID:22761713, PMID:22773699, PMID:22820548, PMID:23085272, PMID:23295292, PMID:23433541, PMID:23771172, PMID:24033266, PMID:24097065, PMID:24323243, PMID:24411943, PMID:24430320, PMID:24518839, PMID:24568320, PMID:24578721, PMID:24728127, PMID:24735133, PMID:24804978, PMID:24918535, PMID:25015100, PMID:25082184, PMID:25182307, PMID:25306193, PMID:25414397, PMID:25494859, PMID:25555642, PMID:25741868, PMID:25850297, PMID:26059258, PMID:26123671, PMID:26287533, PMID:26467025, PMID:27059371, PMID:27080136, PMID:27106716, PMID:27167055, PMID:27185633, PMID:27269892, PMID:27271189, PMID:27935851, PMID:28012402, PMID:28170077, PMID:28492532, PMID:28555465, PMID:28575730, PMID:28726111, PMID:29056535, PMID:29207974, PMID:29424410, PMID:29510678, PMID:30086370, PMID:30155490, PMID:30257192, PMID:30592380 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
maturity-onset diabetes of the young type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600496
OMIM
ClinVar
CTD
PMID:8866553, PMID:8945470, PMID:9032114, PMID:9045858, PMID:9075818, PMID:9075819, PMID:9097962, PMID:9112026, PMID:9133564, PMID:9166684, PMID:9287053, PMID:9313763, PMID:9313764, PMID:9392505, PMID:9439666, PMID:9604876, PMID:9754819, PMID:10078571, PMID:10333057, PMID:10447526, PMID:10482964, PMID:10585442, PMID:10588527, PMID:10634407, PMID:10649494, PMID:10754480, PMID:10852449, PMID:11058894, PMID:11162430, PMID:11289470, PMID:11296231, PMID:11315851, PMID:11692182, PMID:11938027, PMID:12050210, PMID:12107757, PMID:12355088, PMID:12359128, PMID:12378390, PMID:12442280, PMID:12453420, PMID:12453976, PMID:12488961, PMID:12488962, PMID:12530534, PMID:12574234, PMID:12618559, PMID:12627330, PMID:12675668, PMID:12788852, PMID:15031772, PMID:15277395, PMID:15305805, PMID:15649945, PMID:15657605, PMID:15726414, PMID:15761192, PMID:15883474, PMID:15928245, PMID:16046319, PMID:16186275, PMID:16249556, PMID:16274290, PMID:16834925, PMID:16917892, PMID:16963153, PMID:17033837, PMID:17054605, PMID:17116178, PMID:17192490, PMID:17220065, PMID:17407072, PMID:17407387, PMID:17425917, PMID:17440016, PMID:17496355, PMID:17573900, PMID:17601994, PMID:17700391, PMID:17924661, PMID:17937063, PMID:17989309, PMID:18003757, PMID:18221440, PMID:18332101, PMID:18414213, PMID:18498634, PMID:18513305, PMID:18672310, PMID:18811724, PMID:18838325, PMID:19150152, PMID:19339519, PMID:19754856, PMID:19929997, PMID:20132997, PMID:20210571, PMID:20393147, PMID:20705777, PMID:21051477, PMID:21170474, PMID:21224407, PMID:21518407, PMID:21628466, PMID:21683639, PMID:21696527, PMID:21761282, PMID:22060211, PMID:22341299, PMID:22432108, PMID:22432796, PMID:22802087, PMID:23139355, PMID:23274891, PMID:23348805, PMID:23548576, PMID:23551881, PMID:23607861, PMID:23624530, PMID:24033266, PMID:24041679, PMID:24097065, PMID:24323243, PMID:24728327, PMID:24915262, PMID:25174781, PMID:25306193, PMID:25414397, PMID:25483937, PMID:25555642, PMID:25741868, PMID:26059258, PMID:26110317, PMID:26287533, PMID:26431509, PMID:26467025, PMID:26479152, PMID:26552609, PMID:26853433, PMID:27083284, PMID:27458973, PMID:27486234, PMID:27899486, PMID:27913849, PMID:28012402, PMID:28410371, PMID:28492532, PMID:28701371, PMID:28938416, PMID:29179779, PMID:29207974, PMID:29376044, PMID:29753610, PMID:30155490, PMID:30181854, PMID:30202817, PMID:30293189, PMID:30455330 NCBI chr12:47,407,811...47,433,342
Ensembl chr12:47,407,811...47,433,342
JBrowse link
G RGD1311899 similar to RIKEN cDNA 2210016L21 gene ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 3 ClinVar PMID:10482964, PMID:12488962, PMID:24728327, PMID:26467025 NCBI chr12:47,433,355...47,438,960
Ensembl chr12:47,433,358...47,438,931
JBrowse link
maturity-onset diabetes of the young type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdx1 pancreatic and duodenal homeobox 1 ISO ClinVar Annotator: match by OMIM:606392
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 4
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type IV
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:8506821, PMID:8988180, PMID:9326926, PMID:9649577, PMID:10545530, PMID:10545531, PMID:10720084, PMID:11022198, PMID:11270685, PMID:11315851, PMID:11914043, PMID:12618559, PMID:12970316, PMID:14764823, PMID:15001545, PMID:15170499, PMID:15277425, PMID:15754742, PMID:15883474, PMID:16092045, PMID:16741735, PMID:17126328, PMID:17592437, PMID:19228875, PMID:19496967, PMID:19515026, PMID:20009086, PMID:20621032, PMID:21115832, PMID:21569088, PMID:24033266, PMID:24097065, PMID:25741868, PMID:26058934, PMID:26059258, PMID:26467025, PMID:27420379, PMID:27535533, PMID:27879211, PMID:28492532, PMID:29439679, PMID:30930126 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
maturity-onset diabetes of the young type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:25741868 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome
ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney
ClinVar Annotator: match by OMIM:137920
OMIM
ClinVar
PMID:2624270, PMID:7151342, PMID:9398836, PMID:9703339, PMID:10484768, PMID:10672455, PMID:10720943, PMID:10758154, PMID:10868855, PMID:11085914, PMID:11317673, PMID:11562418, PMID:11845237, PMID:11845238, PMID:11918730, PMID:12148114, PMID:12161522, PMID:12460054, PMID:12478351, PMID:12675839, PMID:14583183, PMID:15001636, PMID:15068978, PMID:15085338, PMID:15168014, PMID:15181075, PMID:15509593, PMID:15649945, PMID:15660195, PMID:15930087, PMID:16133182, PMID:16249435, PMID:16371430, PMID:16801329, PMID:16971658, PMID:17116179, PMID:17267738, PMID:17337496, PMID:17440011, PMID:17878605, PMID:17924661, PMID:18065799, PMID:18249217, PMID:18528323, PMID:18644064, PMID:19228875, PMID:19346182, PMID:19389850, PMID:19639018, PMID:20155289, PMID:20378641, PMID:20543213, PMID:20603712, PMID:20633866, PMID:21163139, PMID:21380624, PMID:21617276, PMID:21775974, PMID:22034641, PMID:22060211, PMID:22114815, PMID:22432796, PMID:22641569, PMID:22706971, PMID:23520208, PMID:23539225, PMID:23926411, PMID:23979948, PMID:24033266, PMID:24041679, PMID:24097065, PMID:24382792, PMID:24387224, PMID:24429398, PMID:24476040, PMID:24897035, PMID:24961278, PMID:25041077, PMID:25441779, PMID:25500806, PMID:25536396, PMID:25700310, PMID:25705165, PMID:25741868, PMID:25754277, PMID:26024028, PMID:26059258, PMID:26226118, PMID:26319241, PMID:26417411, PMID:26467025, PMID:26489027, PMID:26489029, PMID:26669242, PMID:26899772, PMID:27229139, PMID:27234567, PMID:27297286, PMID:27657687, PMID:27838256, PMID:27913849, PMID:28215227, PMID:28251383, PMID:28420700, PMID:28502589, PMID:28593362, PMID:28912863, PMID:29207974, PMID:29406598, PMID:29491316, PMID:29764441, PMID:29927023, PMID:30259503 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Familial hypoplastic, glomerulocystic kidney ClinVar PMID:27657687 NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
JBrowse link
maturity-onset diabetes of the young type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 6
ClinVar Annotator: match by OMIM:606394
OMIM
ClinVar
PMID:10545951, PMID:16321269, PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
JBrowse link
maturity-onset diabetes of the young type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf11 Kruppel-like factor 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7
ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 7
ClinVar Annotator: match by OMIM:610508
OMIM
ClinVar
PMID:15774581, PMID:17130512, PMID:18593768, PMID:19122346, PMID:19843526, PMID:25741868, PMID:28492532 NCBI chr 6:43,829,812...43,841,649
Ensembl chr 6:43,829,945...43,841,651
JBrowse link
maturity-onset diabetes of the young type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 8
ClinVar Annotator: match by OMIM:609812
OMIM
ClinVar
PMID:16369531, PMID:18414213, PMID:25741868 NCBI chr 3:7,134,021...7,141,522
Ensembl chr 3:7,134,021...7,141,522
JBrowse link
maturity-onset diabetes of the young type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 9
ClinVar Annotator: match by OMIM:612225
OMIM
ClinVar
PMID:17426099 NCBI chr 4:55,735,640...55,753,461
Ensembl chr 4:55,735,682...55,740,627
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      endocrine system disease 4988
        diabetes mellitus 1367
          type 2 diabetes mellitus 656
            maturity-onset diabetes of the young 23
              Fanconi renotubular syndrome 4 1
              maturity-onset diabetes of the young type 1 2
              maturity-onset diabetes of the young type 10 3
              maturity-onset diabetes of the young type 11 2
              maturity-onset diabetes of the young type 13 2
              maturity-onset diabetes of the young type 14 1
              maturity-onset diabetes of the young type 2 1
              maturity-onset diabetes of the young type 3 2
              maturity-onset diabetes of the young type 4 1
              maturity-onset diabetes of the young type 5 3
              maturity-onset diabetes of the young type 6 1
              maturity-onset diabetes of the young type 7 1
              maturity-onset diabetes of the young type 8 1
              maturity-onset diabetes of the young type 9 1
Path 2
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          carbohydrate metabolism disease 1763
            glucose metabolism disease 1763
              diabetes mellitus 1367
                type 2 diabetes mellitus 656
                  maturity-onset diabetes of the young 23
                    Fanconi renotubular syndrome 4 1
                    maturity-onset diabetes of the young type 1 2
                    maturity-onset diabetes of the young type 10 3
                    maturity-onset diabetes of the young type 11 2
                    maturity-onset diabetes of the young type 13 2
                    maturity-onset diabetes of the young type 14 1
                    maturity-onset diabetes of the young type 2 1
                    maturity-onset diabetes of the young type 3 2
                    maturity-onset diabetes of the young type 4 1
                    maturity-onset diabetes of the young type 5 3
                    maturity-onset diabetes of the young type 6 1
                    maturity-onset diabetes of the young type 7 1
                    maturity-onset diabetes of the young type 8 1
                    maturity-onset diabetes of the young type 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.