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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 autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO)
Synonyms:exact_synonym: MODY;   Mason-type diabetes;   maturity-onset diabetes mellitus in young
 primary_id: MESH:C562772
 alt_id: OMIM:606391
 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: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:1021286 PMID:2198959 PMID:8751851 PMID:8923011 PMID:9519757 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Blk BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031 		JBrowse link
G C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar NCBI chr12:41,672,114...41,677,722
Ensembl chr12:41,672,114...41,677,714 		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 3:144,201,604...144,227,423
Ensembl chr 3:144,201,605...144,227,485 		JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:1464666 PMID:1502186 PMID:7553875 PMID:8068341 PMID:8168652 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Hnf1a HNF1 homeobox A ISO DNA:polymorphism: : (human)
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young		 ClinVar
RGD		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... RGD:150540303 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:11845238 PMID:15068978 PMID:15509593 PMID:15649945 PMID:15660195 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:9267996 PMID:9313765 PMID:9449683 PMID:10447526 PMID:10983627 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:25741868 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:12610512 PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISS
ISO		 OMIM:606391
ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young		 MouseDO
ClinVar		 PMID:12610512 PMID:18162506 PMID:22572540 PMID:24275212 PMID:25741868 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:2270156 PMID:2462236 PMID:7847376 PMID:8897013 PMID:8923010 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
G Klf11 KLF transcription factor 11 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:25741868 NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550 		JBrowse link
G Mafa MAF bZIP transcription factor A ISS OMIM:606391 MouseDO NCBI chr 7:107,432,292...107,435,061
Ensembl chr 7:107,433,605...107,434,690 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:25741868 NCBI chr19:39,278,123...39,304,555
Ensembl chr19:39,276,785...39,304,502 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649 		JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:11723072 PMID:15509590 PMID:18414213 PMID:21263211 PMID:25741868 More... NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408 		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 More... NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064 		JBrowse link
G Tgm2 transglutaminase 2 ISS OMIM:606391 MouseDO NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:12610512 PMID:18162506 PMID:22572540 PMID:24275212 PMID:25741868 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		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: FRTS4 WITH MODY | ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young OMIM
ClinVar		 PMID:10227563 PMID:10691738 PMID:10768098 PMID:15123688 PMID:15826954 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young ClinVar PMID:25741868 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451 		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 Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus		 ClinVar PMID:8650576 PMID:8923011 PMID:9382893 PMID:9519757 PMID:9648840 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510 		JBrowse link
G Acads acyl-CoA dehydrogenase short chain ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:18523805 PMID:25741868 PMID:28492532 NCBI chr12:41,493,650...41,502,897
Ensembl chr12:41,493,626...41,502,898 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:9536098 PMID:15166380 PMID:17327441 PMID:17576681 PMID:19164855 More... NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25057215 NCBI chr12:41,672,114...41,677,722
Ensembl chr12:41,672,114...41,677,714 		JBrowse link
G Cd36 CD36 molecule ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:16911630 PMID:16952981 PMID:25741868 PMID:32347024 PMID:32796572 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903 		JBrowse link
G Cdkal1 CDK5 regulatory subunit associated protein 1-like 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:24760768 NCBI chr17:34,718,680...34,769,614
NCBI chr17:34,852,238...35,271,276
Ensembl chr17:34,718,687...35,407,524 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25741868 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 More... NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Gcgr glucagon receptor ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:7773293 PMID:8563746 PMID:28492532 NCBI chr10:105,808,474...105,816,641
Ensembl chr10:105,808,473...105,816,640 		JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:1360036 PMID:1397713 PMID:7553875 PMID:8094163 PMID:8094164 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gpd2 glycerol-3-phosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:9070847 NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:8945470 PMID:9112026 PMID:9287053 PMID:9313764 PMID:9604876 More... NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:12161522 PMID:20378641 PMID:25536396 PMID:25700310 PMID:25741868 NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		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: Type 2 diabetes mellitus
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:193395 PMID:8945471 PMID:9294105 PMID:9313765 PMID:9371825 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:1607076 PMID:2040394 PMID:7814014 PMID:8432414 PMID:8900242 More... NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Irs1 insulin receptor substrate 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:11775217 PMID:12679424 PMID:24033266 PMID:25741868 NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122 		JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		JBrowse link
G Klf11 KLF transcription factor 11 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:15774581 PMID:18199129 PMID:25741868 PMID:28492532 PMID:34393998 NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550 		JBrowse link
G Ksr2 kinase suppressor of ras 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:24209692 PMID:25741868 NCBI chr12:38,802,796...39,187,809
Ensembl chr12:38,802,004...39,188,375 		JBrowse link
G Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G LOC681241 hypothetical protein LOC681241 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr17:82,062,461...82,174,401
Ensembl chr17:82,071,838...82,174,353 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr 3:153,120,605...153,135,628
Ensembl chr 3:153,120,632...153,135,865 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:10545951 PMID:25741868 NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649 		JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:11723072 PMID:18414213 PMID:21263211 PMID:25741868 PMID:25951767 More... NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:10545530 PMID:10545531 PMID:10720084 PMID:11022198 PMID:11270685 More... NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppp1r3a protein phosphatase 1, regulatory subunit 3A ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:7581368 PMID:25741868 NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638 		JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135 		JBrowse link
G Rbpj recombination signal binding protein for immunoglobulin kappa J region ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:29924900 NCBI chr14:57,338,493...57,523,330
Ensembl chr14:57,338,507...57,523,353 		JBrowse link
G Rbpjl recombination signal binding protein for immunoglobulin kappa J region-like ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr 3:153,134,044...153,147,421
Ensembl chr 3:153,134,140...153,146,513 		JBrowse link
G Sdc4 syndecan 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr 3:153,154,888...153,173,576
Ensembl chr 3:153,154,896...153,173,580 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:17636114 PMID:24033266 PMID:25741868 PMID:26495765 PMID:27035118 More... NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:1397719 PMID:1918382 PMID:7814014 NCBI chr10:54,666,015...54,671,581
Ensembl chr10:54,666,015...54,671,565 		JBrowse link
G Slc30a8 solute carrier family 30 member 8 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:24584071 PMID:31676859 NCBI chr 7:83,591,993...83,627,786
Ensembl chr 7:83,591,993...83,626,305 		JBrowse link
G Slpi secretory leukocyte peptidase inhibitor ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr 3:153,082,208...153,084,457
Ensembl chr 3:153,082,369...153,084,453 		JBrowse link
G Tcf7l2 transcription factor 7 like 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr 1:254,785,956...254,978,967
Ensembl chr 1:254,786,091...254,978,967 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:1161832 PMID:9856492 PMID:10679252 PMID:11161832 PMID:12955714 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25741868 PMID:28492532 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		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 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 OMIM
ClinVar		 PMID:12610512 PMID:17855560 PMID:18162506 PMID:18192540 PMID:20226046 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 ClinVar PMID:12610512 PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		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 OMIM
ClinVar		 PMID:18414213 PMID:19667185 PMID:24033266 PMID:25741868 PMID:28095440 More... NCBI chr15:37,626,746...37,665,053
Ensembl chr15:37,627,039...37,665,031 		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 chr15:37,685,221...37,715,472
Ensembl chr15:37,700,919...37,715,469 		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 PMID:9867219 PMID:11318841 PMID:11692183 PMID:11872696 PMID:12196481 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510 		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 OMIM
ClinVar		 PMID:2270156 PMID:2462236 PMID:8897013 PMID:9867219 PMID:10338089 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082 		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 OMIM
ClinVar		 PMID:25741868 PMID:26073777 PMID:28492532 NCBI chr16:2,118,503...2,166,741
Ensembl chr16:2,121,255...2,166,692 		JBrowse link
G Asb14 ankyrin repeat and SOCS box-containing 14 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 14 ClinVar PMID:25741868 NCBI chr16:2,095,567...2,123,259
Ensembl chr16:2,095,644...2,115,135 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1303265 PMID:1349989 PMID:1354782 PMID:1360036 PMID:1397713 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		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 C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 ClinVar PMID:9562352 PMID:9626139 PMID:10482964 PMID:10588527 PMID:12488962 More... NCBI chr12:41,672,114...41,677,722
Ensembl chr12:41,672,114...41,677,714 		JBrowse link
G Gck glucokinase ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 ClinVar PMID:19790256 PMID:25741868 PMID:28726111 NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More... NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 ClinVar PMID:25741868 NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MODY type 4 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 4		 CTD
ClinVar
OMIM		 PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:10545530 More... NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064 		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: Renal cysts and diabetes syndrome ClinVar PMID:25741868 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome OMIM
ClinVar		 PMID:2624270 PMID:7151342 PMID:9398836 PMID:9703339 PMID:10484768 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 More... NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:27657687 NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:23778007 PMID:23992123 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 4:10,010,574...10,252,152
Ensembl chr 4:10,010,890...10,252,142 		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 OMIM
ClinVar		 PMID:10545951 PMID:12639765 PMID:16321269 PMID:18414213 PMID:25741868 More... NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649 		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 KLF transcription factor 11 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 7 OMIM
ClinVar		 PMID:15774581 PMID:17130512 PMID:18199129 PMID:18593768 PMID:19122346 More... NCBI chr 6:41,285,699...41,297,548
Ensembl chr 6:41,285,842...41,297,550 		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 OMIM
ClinVar		 PMID:16369531 PMID:18414213 PMID:25741868 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035 		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 OMIM
ClinVar		 PMID:17426099 NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      endocrine system disease 6197
        diabetes mellitus 1494
          maturity-onset diabetes of the young 55
            Fanconi renotubular syndrome 4 2
            maturity-onset diabetes of the young type 1 41
            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 2
            maturity-onset diabetes of the young type 2 1
            maturity-onset diabetes of the young type 3 4
            maturity-onset diabetes of the young type 4 1
            maturity-onset diabetes of the young type 5 5
            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 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          inherited metabolic disorder 4684
            carbohydrate metabolic disorder 2581
              glucose metabolism disease 1892
                diabetes mellitus 1494
                  maturity-onset diabetes of the young 55
                    Fanconi renotubular syndrome 4 2
                    maturity-onset diabetes of the young type 1 41
                    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 2
                    maturity-onset diabetes of the young type 2 1
                    maturity-onset diabetes of the young type 3 4
                    maturity-onset diabetes of the young type 4 1
                    maturity-onset diabetes of the young type 5 5
                    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