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type 1 diabetes mellitus 2 - Ontology Report - Rat Genome Database

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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:type 1 diabetes mellitus 2
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Accession:DOID:0110741 term browser browse the term
Definition:A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: IDDM2;   T1D2;   insulin-dependent diabetes mellitus 2
 primary_id: MESH:C565100
 alt_id: MIM:125852

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type 1 diabetes mellitus 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Igf2 insulin like growth factor 2 ISO OMIM:125852 MouseDO NCBI chrNW_004624767:14,969,977...14,997,577
Ensembl chrNW_004624767:14,969,866...14,979,026 		JBrowse link
G G IGF2 insulin like growth factor 2 ISO OMIM:125852 MouseDO NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G P IGF2 insulin like growth factor 2 ISO OMIM:125852 MouseDO NCBI chr 2:1,469,183...1,496,417 JBrowse link
G S Igf2 insulin like growth factor 2 ISO OMIM:125852 MouseDO NCBI chrNW_004936816:972,902...981,232
Ensembl chrNW_004936816:972,282...979,167 		JBrowse link
G D IGF2 insulin like growth factor 2 ISO OMIM:125852 MouseDO NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982 		JBrowse link
G B IGF2 insulin like growth factor 2 ISO OMIM:125852 MouseDO NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890 		JBrowse link
G C Igf2 insulin like growth factor 2 ISO OMIM:125852 MouseDO NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566 		JBrowse link
G R Igf2 insulin-like growth factor 2 ISS OMIM:125852 MouseDO NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G M Igf2 insulin-like growth factor 2 IAGP OMIM:125852 MouseDO NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G H IGF2 insulin like growth factor 2 ISS OMIM:125852 MouseDO NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G N Ins insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chrNW_004624767:14,999,088...15,000,035
Ensembl chrNW_004624767:14,999,088...15,000,035 		JBrowse link
G G INS insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr 1:1,965,128...1,969,090 JBrowse link
G P INS insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841 		JBrowse link
G S Ins insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357 		JBrowse link
G D INS insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr18:46,324,047...46,324,933
Ensembl chr18:46,324,041...46,325,122 		JBrowse link
G B INS insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666 		JBrowse link
G C Ins insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 OMIM
ClinVar		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419 		JBrowse link
G H INS insulin IAGP
EXP
ISO		 ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.C96Y (mouse)		 OMIM
ClinVar
CTD
RGD		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... RGD:14401710 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G H INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G R Ins1 insulin 1 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536 		JBrowse link
G M Ins1 insulin I ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914 		JBrowse link
G R Ins2 insulin 2 ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.C96Y (mouse)		 OMIM
ClinVar
CTD
RGD		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... RGD:14401710 NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
G M Ins2 insulin II ISO
IAGP		 ClinVar Annotator: match by term: Type 1 diabetes mellitus 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.C96Y (mouse)		 OMIM
ClinVar
CTD
RGD		 PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More... RGD:14401710 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G N Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chrNW_004624781:13,342,469...13,468,120
Ensembl chrNW_004624781:13,342,357...13,455,055 		JBrowse link
G G LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr26:24,946,843...25,109,338
Ensembl chr26:24,946,673...25,087,921 		JBrowse link
G P LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr 1:113,433,684...113,604,139
Ensembl chr 1:113,433,687...113,583,963 		JBrowse link
G S Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chrNW_004936471:19,604,083...19,733,721
Ensembl chrNW_004936471:19,703,236...19,733,686 		JBrowse link
G D LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr30:23,432,460...23,584,037
Ensembl chr30:23,432,493...23,584,037 		JBrowse link
G B LIPC lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr15:37,363,507...37,537,723
Ensembl chr15:55,814,017...55,847,005 		JBrowse link
G C Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chrNW_004955450:15,947,869...16,062,449
Ensembl chrNW_004955450:15,948,187...16,048,766 		JBrowse link
G R Lipc lipase C, hepatic type ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr 8:80,390,470...80,516,463
Ensembl chr 8:71,509,635...71,635,464 		JBrowse link
G M Lipc lipase, hepatic ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr 9:70,705,410...70,859,503
Ensembl chr 9:70,705,410...70,859,508 		JBrowse link
G H LIPC lipase C, hepatic type IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G S LOC120889510 insulin ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:2196279 PMID:4019786 PMID:6368587 PMID:7242673 PMID:8269791 More...
G N Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chrNW_004624767:15,003,073...15,010,207
Ensembl chrNW_004624767:15,003,092...15,010,154 		JBrowse link
G G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218 		JBrowse link
G P TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170 		JBrowse link
G S Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chrNW_004936794:478,651...486,887
Ensembl chrNW_004936794:478,614...487,061 		JBrowse link
G D TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr18:46,327,136...46,334,973
Ensembl chr18:46,327,137...46,335,602 		JBrowse link
G B TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433 		JBrowse link
G C Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137 		JBrowse link
G R Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G M Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		JBrowse link
G H TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Type 1 diabetes mellitus 2 ClinVar PMID:18162506 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 More... NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        inherited metabolic disorder 74830
          type 1 diabetes mellitus 2 44
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          inherited metabolic disorder 74830
            carbohydrate metabolic disorder 41086
              glucose metabolism disease 0
                diabetes mellitus 23264
                  type 1 diabetes mellitus 3781
                    type 1 diabetes mellitus 2 44
paths to the root