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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


show annotations for term's descendants           Sort by:
maturity-onset diabetes of the young term browser
Symbol Object Name Qualifiers 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 PMID:9626139 PMID:10588527 PMID:23348805 PMID:24728327 PMID:25741868 More... 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: Maturity onset diabetes mellitus in young
ClinVar Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young		 ClinVar PMID:1354782 PMID:1360036 PMID:1397713 PMID:1464666 PMID:1502186 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 Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young		 ClinVar
RGD		 PMID:1985954 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 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: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young ClinVar PMID:2976441 PMID:9398836 PMID:10868855 PMID:11845238 PMID:12148114 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 Annotator: match by term: Mason type diabetes | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young		 ClinVar PMID:193395 PMID:9267996 PMID:9313765 PMID:9449683 PMID:10227563 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:20007936 PMID:24411943 PMID:25741868 PMID:25781672 PMID:27634015 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:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20007936 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:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20007936 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:1422196 PMID:2270156 PMID:2462236 PMID:7847376 PMID:8897013 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 Lmna lamin A/C ISO ClinVar Annotator: match by term: Mason type diabetes ClinVar PMID:11102973 PMID:29237675 PMID:29952368 PMID:32818388 PMID:33407844 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		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:15596543 PMID:16423628 PMID:18414213 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: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
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:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:22572540 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 Qualifiers 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:10768098 PMID:15123688 PMID:15826954 PMID:17563455 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 Qualifiers 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 Acp7 acid phosphatase 7, tartrate resistant ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,896,485...83,923,436
Ensembl chr 1:83,898,153...83,920,634 		JBrowse link
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847 		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 Capn12 calpain 12 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,171,059...84,183,161
Ensembl chr 1:84,171,059...84,183,119 		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 Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,479,139...83,497,011
Ensembl chr 1:83,479,147...83,487,169 		JBrowse link
G Ech1 enoyl-CoA hydratase 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,114,494...84,120,788
Ensembl chr 1:84,112,751...84,120,795 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,538,217...83,542,262 JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734 		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 Fbl fibrillarin ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932 		JBrowse link
G Fbxo17 F-box protein 17 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,002,276...84,024,455
Ensembl chr 1:84,002,267...84,024,453 		JBrowse link
G Fbxo27 F-box protein 27 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,965,426...83,987,781
Ensembl chr 1:83,965,986...83,987,778 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,374,979...83,413,083
Ensembl chr 1:83,372,127...83,413,083 		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:1502186 PMID:7553875 PMID:8094163 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995 		JBrowse link
G Gmfg glia maturation factor, gamma ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,728,797...83,739,189
Ensembl chr 1:83,728,776...83,739,183 		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 Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077 		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:9133564 PMID:9287053 PMID:9313764 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: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 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:9267996 PMID:9294105 PMID:9313765 More... NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320 		JBrowse link
G Hnrnpl heterogeneous nuclear ribonucleoprotein L ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553 		JBrowse link
G Ifnl1 interferon, lambda 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,798,651...83,800,297
Ensembl chr 1:83,798,703...83,800,235 		JBrowse link
G Ifnl3 interferon, lambda 3 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096 		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 PMID:28492532 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 Lgals4 galectin 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,123,497...84,132,605
Ensembl chr 1:84,124,764...84,132,481 		JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153 		JBrowse link
G Lgals7 galectin 7 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,148,612...84,152,016
Ensembl chr 1:84,150,252...84,152,015 		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 Lrfn1 leucine rich repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,742,442...83,761,450
Ensembl chr 1:83,682,964...83,761,449 		JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:82,955,783...82,974,084
Ensembl chr 1:82,955,207...82,974,084 		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 Med29 mediator complex subunit 29 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,677,961...83,683,365
Ensembl chr 1:83,677,961...83,683,365 		JBrowse link
G Mrps12 mitochondrial ribosomal protein S12 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,025,896...84,028,896
Ensembl chr 1:84,025,899...84,028,780 		JBrowse link
G Nccrp1 NCCRP1, F-box associated domain containing ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,835,083...83,838,620
Ensembl chr 1:83,835,083...83,838,676 		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 Nfkbib NFKB inhibitor beta ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,046,292...84,053,862
Ensembl chr 1:84,046,295...84,053,862 		JBrowse link
G Paf1 PAF1 homolog, Paf1/RNA polymerase II complex component ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,683,654...83,689,233
Ensembl chr 1:83,668,813...83,689,237 		JBrowse link
G Pak4 p21 (RAC1) activated kinase 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413 		JBrowse link
G Pax4 paired box 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:11723072 PMID:15596543 PMID:16423628 PMID:18414213 PMID:21263211 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 Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,651,856...83,666,046
Ensembl chr 1:83,647,748...83,665,063 		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 Prx periaxin ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494 		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 RGD1307554 similar to CG16812-PA ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320 		JBrowse link
G Rinl Ras and Rab interactor-like ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,077,011...84,088,590
Ensembl chr 1:84,077,265...84,088,330 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206 		JBrowse link
G Samd4b sterile alpha motif domain containing 4B ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,689,413...83,728,652
Ensembl chr 1:83,689,413...83,713,853 		JBrowse link
G Sars2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725 		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 Selenov selenoprotein V ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756 		JBrowse link
G Sirt2 sirtuin 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:8027028 PMID:8063045 PMID:9354798 PMID:11810292 PMID:13480676 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 Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892 		JBrowse link
G Sycn syncollin ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,823,836...83,833,542
Ensembl chr 1:83,832,102...83,833,538 		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 Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,574,872...83,582,769
Ensembl chr 1:83,556,757...83,582,793 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:1161832 PMID:9856492 PMID:10521293 PMID:10679252 PMID:11161832 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:20443122 PMID:25741868 PMID:28492532 NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365 		JBrowse link
G Zfp36 zinc finger protein 36 ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,669,084...83,671,564
Ensembl chr 1:83,669,084...83,671,564 		JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107 		JBrowse link
maturity-onset diabetes of the young type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 10 ClinVar PMID:20007936 PMID:24411943 PMID:25741868 PMID:25781672 PMID:27634015 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 of the young type 10 ClinVar PMID:11921414 PMID:12610512 PMID:17855560 PMID:18162506 PMID:18171712 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:11921414 PMID:12610512 PMID:17855560 PMID:18162506 PMID:18171712 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 Qualifiers 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:18204098 PMID:18414213 PMID:19667185 PMID:24023612 PMID:24033266 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 Qualifiers 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: MODY, TYPE 13 | 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 Qualifiers 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 PMID:28492532 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 Qualifiers 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 Qualifiers 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:9075818 PMID:9562352 PMID:9626139 PMID:10333057 PMID:10482964 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 PMID:36257325 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 Qualifiers 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: 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:25741868 NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Renal cysts and diabetes syndrome ClinVar PMID:25741868 PMID:28492532 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:2976441 PMID:7151342 PMID:9398836 PMID:9703339 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Neurod1 neuronal differentiation 1 susceptibility ISO ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 6
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10545951 PMID:12639765 PMID:16321269 PMID:18414213 PMID:25041077 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 Qualifiers 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:16199547 PMID:17130512 PMID:18199129 PMID:18593768 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Diabetes-pancreatic exocrine dysfunction syndrome | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 8 OMIM
ClinVar		 PMID:16369531 PMID:18414213 PMID:25741868 PMID:28492532 PMID:32906201 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 Qualifiers 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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:15509590 PMID:17426099 PMID:25741868 PMID:28492532 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 21089
    disease of anatomical entity 18156
      endocrine system disease 6707
        diabetes mellitus 1609
          maturity-onset diabetes of the young 103
            Fanconi renotubular syndrome 4 2
            maturity-onset diabetes of the young type 1 87
            maturity-onset diabetes of the young type 10 4
            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 6
            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 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          inherited metabolic disorder 6165
            carbohydrate metabolic disorder 3218
              glucose metabolism disease 2013
                diabetes mellitus 1609
                  maturity-onset diabetes of the young 103
                    Fanconi renotubular syndrome 4 2
                    maturity-onset diabetes of the young type 1 87
                    maturity-onset diabetes of the young type 10 4
                    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 6
                    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