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Diabetes mellitus - Ontology Report - Rat Genome Database

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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Diabetes mellitus
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Accession:HP:0000819 term browser browse the term
Definition:A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Synonyms:alt_id: HP:0004908;   HP:0008217;   HP:0008234;   HP:0008260
 xref: EFO:0000400;   SNOMEDCT_US:73211009;   UMLS:C0011849

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Diabetes mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB4 ATP binding cassette subfamily B member 4 IAGP HPO ORPHA:69663 NCBI chr 7:87,365,896...87,476,027
Ensembl chr 7:87,401,696...87,480,435 		JBrowse link
G ABCC8 ATP binding cassette subfamily C member 8 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:3202066 PMID:18414213 PMID:21378087 PMID:22855730 PMID:23275527 More... NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADRA2A adrenoceptor alpha 2A IAGP HPO MIM:620679 NCBI chr10:111,077,029...111,080,907
Ensembl chr10:111,077,029...111,080,907 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO ORPHA:536532 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO MIM:608594 ORPHA:528 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G APOA5 apolipoprotein A5 IAGP HPO MIM:144650 NCBI chr11:116,789,367...116,792,420
Ensembl chr11:116,789,367...116,792,420 		JBrowse link
G APOE apolipoprotein E IAGP HPO ORPHA:412 NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO MIM:616511 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105 		JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO MIM:208900 ORPHA:100 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO ORPHA:96253 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO MIM:209900 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO MIM:615981 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO MIM:235200 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO ORPHA:465508 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:96253 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:1333 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:1333 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:528 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G CASR calcium sensing receptor IAGP HPO ORPHA:676 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:612526 ORPHA:528 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO ORPHA:528 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:96253 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:1333 ORPHA:1501 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971 		JBrowse link
G CISD2 CDGSH iron sulfur domain 2 IAGP HPO MIM:604928 ORPHA:3463 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G CP ceruloplasmin IAGP HPO MIM:604290 ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829 		JBrowse link
G CPA1 carboxypeptidase A1 IAGP HPO ORPHA:676 NCBI chr 7:130,380,494...130,388,108
Ensembl chr 7:130,380,339...130,388,114 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:1501 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO MIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CTRC chymotrypsin C IAGP HPO MIM:167800 ORPHA:676 NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242 		JBrowse link
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO MIM:241080 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP HPO ORPHA:445062 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988 		JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO ORPHA:85282 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G ELMO2 engulfment and cell motility 2 IAGP HPO ORPHA:3019 NCBI chr20:46,366,050...46,406,615
Ensembl chr20:46,366,050...46,432,985 		JBrowse link
G ELN elastin IAGP HPO MIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:449291 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit IAGP HPO ORPHA:528 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190 		JBrowse link
G FOXC2 forkhead box C2 IAGP HPO ORPHA:33001 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXP1 forkhead box P1 IAGP HPO ORPHA:391372 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO ORPHA:2609 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,131 		JBrowse link
G FXN frataxin IAGP HPO MIM:229300 ORPHA:95 NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO ORPHA:2237 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GATA6 GATA binding protein 6 IAGP HPO MIM:600001 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GCGR glucagon receptor IAGP HPO ORPHA:438274 NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008 		JBrowse link
G GCK glucokinase IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:7553875 PMID:9867845 PMID:14578306 PMID:16444761 PMID:19790256 More... MIM:602485 MIM:606176 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:317 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP HPO ORPHA:317 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP HPO ORPHA:317 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G GLIS3 GLIS family zinc finger 3 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:18414213 PMID:25741868 PMID:28492532 PMID:31415576 MIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO ORPHA:263297 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP RGD PMID:34077009 RGD:243048423 NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552 		JBrowse link
G HAMP hepcidin antimicrobial peptide IAGP HPO ORPHA:79230 NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143 		JBrowse link
G HBB hemoglobin subunit beta IAGP HPO ORPHA:231214 ORPHA:231222 ORPHA:231226 NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395 		JBrowse link
G HFE homeostatic iron regulator IAGP HPO MIM:235200 ORPHA:465508 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G HJV hemojuvelin BMP co-receptor IAGP HPO ORPHA:79230 NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO ORPHA:703 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:703 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:94063 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:2975864 PMID:9075818 PMID:9097962 PMID:9313764 PMID:9754819 More... MIM:222100 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO MIM:137920 ORPHA:261265 ORPHA:93111 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO MIM:616026 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility IAGP DNA:SNP:insertion: ins4436A (rs45487298) (human)
DNA:SNP: (rs12086634)T>G (human)		 RGD PMID:26671915 PMID:23869418 RGD:11353457, RGD:329901929 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G IARS1 isoleucyl-tRNA synthetase 1 IAGP HPO ORPHA:541423 NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO MIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IGF1R insulin like growth factor 1 receptor IAGP HPO MIM:270450 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790 		JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO MIM:601942 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G IL6 interleukin 6 IAGP HPO MIM:222100 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:11921414 PMID:18171712 PMID:20133622 PMID:20938745 PMID:21592955 More... MIM:613370 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:11921414 PMID:18171712 PMID:22957706 PMID:25542748 PMID:26101329 NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IAGP HPO MIM:222100 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:2270156 PMID:2462236 PMID:12524280 PMID:15115830 PMID:15292329 More... MIM:616329 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KDSR 3-ketodihydrosphingosine reductase IAGP HPO ORPHA:317 NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:28492532 PMID:33538814 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1333 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:94063 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G LEPR leptin receptor IAGP HPO MIM:614963 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LHX1 LIM homeobox 1 IAGP HPO ORPHA:261265 NCBI chr17:36,936,785...36,944,612
Ensembl chr17:36,936,785...36,944,612 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP HPO MIM:615980 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:2348 ORPHA:280365 ORPHA:79084 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMNB2 lamin B2 IAGP HPO MIM:608709 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,959 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MEF2A myocyte enhancer factor 2A IAGP HPO MIM:608320 NCBI chr15:99,565,417...99,716,488
Ensembl chr15:99,565,417...99,716,488 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO MIM:605231 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP DNA:SNP:promoter:-1306C>T (rs243865) RGD PMID:23791966 RGD:8657048 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:320360 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ATP8 mitochondrially encoded ATP synthase membrane subunit 8 IAGP HPO ORPHA:480 NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO MIM:540000 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO MIM:540000 ORPHA:2609 ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:2609 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511 		JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:2609 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TC mitochondrially encoded tRNA-Cys (UGU/C) IAGP HPO MIM:540000 NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO MIM:540000 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO MIM:540000 ORPHA:480 ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO MIM:540000 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO MIM:540000 ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:649 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395 		JBrowse link
G NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 IAGP HPO ORPHA:2609 NCBI chr  X:119,871,832...119,876,662
Ensembl chr  X:119,871,832...119,876,662 		JBrowse link
G NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 IAGP HPO ORPHA:2609 NCBI chr19:5,891,229...5,903,790
Ensembl chr19:5,891,207...5,904,006 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO ORPHA:2609 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 IAGP HPO ORPHA:2609 NCBI chr15:41,387,353...41,403,026
Ensembl chr15:41,387,218...41,409,403 		JBrowse link
G NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 IAGP HPO ORPHA:2609 NCBI chr 5:60,945,205...61,153,026
Ensembl chr 5:60,945,177...61,154,531 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP HPO ORPHA:2609 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 IAGP HPO ORPHA:2609 NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891 		JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO ORPHA:2609 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580 		JBrowse link
G NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 IAGP HPO ORPHA:2609 NCBI chr17:81,239,311...81,241,310
Ensembl chr17:81,239,305...81,241,310 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 IAGP HPO ORPHA:2609 NCBI chr16:1,959,538...1,961,975
Ensembl chr16:1,959,538...1,961,975 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO ORPHA:2609 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 IAGP HPO ORPHA:2609 NCBI chr 2:201,072,001...201,085,750
Ensembl chr 2:201,071,433...201,085,750 		JBrowse link
G NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 IAGP HPO ORPHA:2609 NCBI chr 8:124,539,123...124,549,979
Ensembl chr 8:124,539,101...124,580,648 		JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO ORPHA:2609 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO ORPHA:2609 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 IAGP HPO ORPHA:2609 NCBI chr11:47,579,074...47,584,562
Ensembl chr11:47,565,336...47,584,562 		JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO ORPHA:2609 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338 		JBrowse link
G NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 IAGP HPO ORPHA:2609 NCBI chr 5:1,801,407...1,816,048
Ensembl chr 5:1,801,407...1,816,048 		JBrowse link
G NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 IAGP HPO ORPHA:2609 NCBI chr19:1,383,907...1,395,584
Ensembl chr19:1,383,527...1,395,589 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO ORPHA:2609 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP HPO ORPHA:2609 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 IAGP HPO ORPHA:2609 NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:136 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NPPA natriuretic peptide A susceptibility IAGP DNA:SNP, missense mutation:intron 2, CDS:1837G>A, 664G>A (p.V7M) (human) RGD PMID:10525492 RGD:149735577 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345 		JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 IAGP HPO ORPHA:96253 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO MIM:617253 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125 		JBrowse link
G NUBPL NUBP iron-sulfur cluster assembly factor, mitochondrial IAGP HPO ORPHA:2609 NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:1215 ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:1333 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PALLD palladin, cytoskeletal associated protein IAGP HPO ORPHA:1333 NCBI chr 4:168,497,052...168,928,441
Ensembl chr 4:168,497,052...168,928,457 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PAX4 paired box 4 IAGP HPO MIM:612227 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO MIM:614613 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:3163 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More... NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO MIM:610717 ORPHA:565612 ORPHA:98908 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POC1A POC1 centriolar protein A IAGP HPO MIM:614813 NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit IAGP HPO MIM:615381 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO ORPHA:528 ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO MIM:615830 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO ORPHA:1501 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO MIM:610628 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PRSS1 serine protease 1 IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072 		JBrowse link
G PRSS2 serine protease 2 IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP HPO MIM:609069 MIM:615935 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO MIM:222100 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO MIM:616263 ORPHA:456312 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 IAGP HPO ORPHA:1333 NCBI chr 3:120,684,938...120,742,680
Ensembl chr 3:120,684,938...120,742,993 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RFX6 regulatory factor X6 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:15592663 PMID:20148032 MIM:615710 NCBI chr 6:116,877,242...116,932,161
Ensembl chr 6:116,877,212...116,932,161 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 ORPHA:480 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SARS2 seryl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:613845 NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP HPO MIM:249270 ORPHA:49827 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP HPO ORPHA:2088 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC40A1 solute carrier family 40 member 1 IAGP HPO MIM:606069 NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:1333 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO MIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:10835640 PMID:15980664 PMID:16849362 PMID:18978175 PMID:23017645 More... MIM:167800 ORPHA:676 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO MIM:614162 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1501 ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G THRB thyroid hormone receptor beta IAGP HPO MIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP HPO ORPHA:2609 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,547...119,525,090 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TMEM126B transmembrane protein 126B IAGP HPO ORPHA:2609 NCBI chr11:85,628,573...85,636,540
Ensembl chr11:85,628,573...85,636,539 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:1333 ORPHA:1501 ORPHA:96253 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO MIM:616033 ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO ORPHA:676 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TTPA alpha tocopherol transfer protein IAGP HPO ORPHA:96 NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO MIM:609286 ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 ORPHA:2315 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G USP48 ubiquitin specific peptidase 48 IAGP HPO ORPHA:96253 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP HPO ORPHA:96253 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Diabetes mellitus ClinVar
HPO		 PMID:10521293 PMID:10679252 PMID:11161832 PMID:11244483 PMID:11295831 More... MIM:222300 MIM:614296 ORPHA:3463 ORPHA:411590 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO MIM:616541 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G YIPF5 Yip1 domain family member 5 IAGP HPO MIM:619278 NCBI chr 5:144,158,162...144,170,659
Ensembl chr 5:144,158,162...144,170,714 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP HPO ORPHA:100996 NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590 		JBrowse link
G ZNF668 zinc finger protein 668 IAGP HPO MIM:620194 NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240 		JBrowse link
G ZNRF3 zinc and ring finger 3 IAGP HPO ORPHA:1501 NCBI chr22:28,883,572...29,057,488
Ensembl chr22:28,883,572...29,057,488 		JBrowse link
Diabetic ketoacidosis 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 IAGP HPO ORPHA:552 ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO ORPHA:552 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:552 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G CEL carboxyl ester lipase IAGP HPO ORPHA:552 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP HPO MIM:615238 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO ORPHA:552 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G INS insulin IAGP HPO MIM:613370 MIM:618858 ORPHA:552 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INSR insulin receptor IAGP HPO MIM:262190 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:552 ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP HPO ORPHA:552 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO ORPHA:552 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G PAX4 paired box 4 IAGP HPO ORPHA:552 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP HPO ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
Insulin-dependent but ketosis-resistant diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTRC chymotrypsin C IAGP HPO ORPHA:103918 NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242 		JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP HPO MIM:608189 ORPHA:103918 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671 		JBrowse link
Insulin-resistant diabetes mellitus 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 IAGP HPO ORPHA:552 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP HPO ORPHA:79085 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO MIM:203800 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO ORPHA:552 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:552 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G CEL carboxyl ester lipase IAGP HPO ORPHA:552 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CIDEC cell death inducing DFFA like effector c IAGP HPO ORPHA:435651 NCBI chr 3:9,866,710...9,880,253
Ensembl chr 3:9,866,711...9,880,255 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus ClinVar
HPO		 PMID:8945470 PMID:9112026 PMID:9604876 PMID:10634407 PMID:12627330 More... ORPHA:552 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G INS insulin IAGP HPO ORPHA:552 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INSR insulin receptor IAGP ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus ClinVar
HPO		 PMID:1845971 PMID:2884728 PMID:4413914 PMID:27896077 MIM:262190 ORPHA:769 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO ORPHA:552 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP HPO ORPHA:552 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G LEP leptin IAGP HPO ORPHA:66628 NCBI chr 7:128,241,278...128,257,629
Ensembl chr 7:128,241,278...128,257,629 		JBrowse link
G LEPR leptin receptor IAGP HPO ORPHA:179494 NCBI chr 1:65,420,652...65,641,559
Ensembl chr 1:65,420,652...65,641,559 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP HPO ORPHA:435660 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:151660 MIM:248370 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO ORPHA:401768 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO ORPHA:552 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase IAGP HPO ORPHA:436182 NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,125 		JBrowse link
G PAX4 paired box 4 IAGP HPO ORPHA:552 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:269880 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
G PLAAT3 phospholipase A and acyltransferase 3 IAGP HPO MIM:620683 NCBI chr11:63,574,462...63,616,927
Ensembl chr11:63,573,195...63,616,883 		JBrowse link
G PLIN1 perilipin 1 IAGP HPO MIM:613877 NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP HPO MIM:604367 ORPHA:79083 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:436182 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:608612 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Insulin-resistant diabetes mellitus at puberty term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP HPO MIM:608594 NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:269700 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G PLIN1 perilipin 1 IAGP HPO ORPHA:280356 NCBI chr15:89,664,367...89,679,367
Ensembl chr15:89,664,367...89,679,427 		JBrowse link
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 IAGP HPO ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO MIM:616511 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:613375 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G CEL carboxyl ester lipase IAGP HPO MIM:609812 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254531 ORPHA:96184 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G GCK glucokinase IAGP HPO MIM:125851 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G HNF1A HNF1 homeobox A IAGP DNA:polymorphism: : HPO
RGD		 PMID:23674172 MIM:142330 MIM:600496 ORPHA:324575, RGD:150540303 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF1B HNF1 homeobox B IAGP HPO MIM:137920 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO MIM:125850 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G INS insulin IAGP HPO MIM:613370 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP HPO MIM:616329 ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP HPO MIM:610508 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254531 ORPHA:96184 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031 		JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO MIM:606394 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G PAX4 paired box 4 IAGP HPO MIM:612225 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 IAGP HPO ORPHA:1578 NCBI chr10:70,882,280...70,888,565
Ensembl chr10:70,882,280...70,888,565 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO MIM:606392 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254531 ORPHA:96184 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP HPO ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
Neonatal insulin-dependent diabetes mellitus 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 IAGP HPO ORPHA:99885 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP HPO ORPHA:556955 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO ORPHA:1667 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G GATA4 GATA binding protein 4 IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:20854389 PMID:24033266 PMID:24696446 PMID:25741868 PMID:27810688 More... NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002 		JBrowse link
G GATA6 GATA binding protein 6 IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar
HPO		 PMID:22158542 PMID:23223019 PMID:25706805 PMID:25741868 PMID:28492532 More... ORPHA:2255 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:99885 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO ORPHA:96191 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar
HPO		 PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 More... ORPHA:99885 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:11921414 PMID:17855560 PMID:18162506 PMID:18171712 PMID:18192540 More... NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar
HPO		 PMID:12524280 PMID:15115830 PMID:15448106 PMID:15448107 PMID:15531505 More... ORPHA:99885 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO MIM:260370 ORPHA:99885 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:96191 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar
HPO		 PMID:18591390 PMID:28492532 ORPHA:65288 NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:99885 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus ClinVar PMID:11921414 PMID:18162506 PMID:18171712 PMID:25542748 PMID:25741868 More... NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
Transient neonatal diabetes mellitus 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 IAGP ClinVar Annotator: match by term: Transient neonatal diabetes mellitus
ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal		 ClinVar
HPO		 PMID:2198959 PMID:8751851 PMID:8923011 PMID:9519757 PMID:9536098 More... MIM:610374 ORPHA:552 ORPHA:99886 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G APPL1 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 IAGP HPO ORPHA:552 NCBI chr 3:57,227,729...57,273,471
Ensembl chr 3:57,227,726...57,278,105 		JBrowse link
G BLK BLK proto-oncogene, Src family tyrosine kinase IAGP HPO ORPHA:552 NCBI chr 8:11,494,387...11,564,599
Ensembl chr 8:11,486,894...11,564,599 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar
HPO		 PMID:25741868 PMID:32906201 ORPHA:552 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G GCK glucokinase IAGP HPO ORPHA:552 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GLIS3 GLIS family zinc finger 3 IAGP ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar PMID:25741868 PMID:27899417 PMID:28492532 PMID:29146476 PMID:29992946 More... NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G HNF1A HNF1 homeobox A IAGP HPO ORPHA:552 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP HPO ORPHA:552 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HYMAI hydatidiform mole associated and imprinted IAGP HPO MIM:601410 ORPHA:99886 NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262 		JBrowse link
G INS insulin IAGP HPO ORPHA:552 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar
HPO		 PMID:12524280 PMID:15115830 PMID:15292329 PMID:15448107 PMID:15580558 More... MIM:610582 ORPHA:552 ORPHA:99886 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP HPO ORPHA:552 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G LOC110121471 VISTA enhancer hs1977 IAGP ClinVar Annotator: match by term: Transient neonatal diabetes mellitus ClinVar PMID:8751851 PMID:9618169 PMID:10194514 PMID:10334322 PMID:10338089 More... NCBI chr11:17,412,970...17,415,128 JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP HPO ORPHA:552 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G PAX4 paired box 4 IAGP HPO ORPHA:552 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP HPO ORPHA:552 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PLAGL1 PLAG1 like zinc finger 1 IAGP HPO ORPHA:99886 NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599 		JBrowse link
G ZFP57 ZFP57 zinc finger protein IAGP ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal ClinVar
HPO		 PMID:18197189 PMID:18414213 PMID:18622393 PMID:23499433 PMID:23748067 More... MIM:601410 ORPHA:99886 NCBI chr 6:29,672,392...29,681,152
Ensembl chr 6:29,672,483...29,681,155 		JBrowse link
Type I diabetes mellitus 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 IAGP HPO MIM:618857 ORPHA:276575 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ADA2 adenosine deaminase 2 IAGP HPO MIM:615688 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G AIRE autoimmune regulator IAGP HPO MIM:240300 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G C12orf43 chromosome 12 open reading frame 43 IAGP ClinVar Annotator: match by term: Type I diabetes mellitus ClinVar PMID:10588527 PMID:12488962 PMID:23348805 PMID:24728327 PMID:25741868 More... NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502 		JBrowse link
G CAT catalase IAGP HPO ORPHA:926 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CAV1 caveolin 1 IAGP HPO MIM:606721 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179 		JBrowse link
G CBLB Cbl proto-oncogene B IAGP HPO MIM:620430 NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Type I diabetes ClinVar PMID:18414213 PMID:25741868 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP HPO MIM:618500 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G CORIN corin, serine peptidase IAGP HPO ORPHA:275555 NCBI chr 4:47,594,001...47,838,067
Ensembl chr 4:47,593,999...47,838,106 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP HPO ORPHA:436159 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO MIM:616113 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNAJC3 DnaJ heat shock protein family (Hsp40) member C3 IAGP HPO MIM:616192 NCBI chr13:95,677,139...95,794,988
Ensembl chr13:95,677,139...95,794,988 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP HPO MIM:619858 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G DUT deoxyuridine triphosphatase IAGP HPO MIM:620044 NCBI chr15:48,331,095...48,343,373
Ensembl chr15:48,331,011...48,343,373 		JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:181 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472 		JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP HPO ORPHA:181 NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298 		JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IAGP HPO ORPHA:275555 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: Type I diabetes ClinVar
HPO		 PMID:25741868 MIM:304790 ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G GCK glucokinase IAGP HPO MIM:606176 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 IAGP HPO MIM:620166 NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524 		JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP HPO ORPHA:171 NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQA1*01, HLA-DQA1*03 HPO
RGD		 PMID:21388354 MIM:212750, RGD:5147565 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 HPO
RGD		 PMID:21388354 MIM:212750, RGD:5147565 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 susceptibility IAGP DNA:polymorphisms:cds:HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*15 RGD PMID:21388354 RGD:5147565 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HNF1A HNF1 homeobox A IAGP ClinVar Annotator: match by term: DIABETES MELLITUS, TYPE I
ClinVar Annotator: match by term: Type I diabetes mellitus		 ClinVar
HPO		 PMID:7842064 PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 More... MIM:612520 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor IAGP HPO ORPHA:701 NCBI chr 8:22,114,419...22,131,052
Ensembl chr 8:22,114,419...22,133,384 		JBrowse link
G IL18BP interleukin 18 binding protein IAGP HPO MIM:618549 NCBI chr11:71,998,909...72,008,200
Ensembl chr11:71,998,613...72,007,315 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP HPO MIM:606367 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G INS insulin susceptibility IAGP DNA:SNP:promoter:-23A>T (rs689)
ClinVar Annotator: match by term: Type I diabetes mellitus
associated autoimmune polyendocrine syndrome;DNA:SNP,repeat:promoter
associated autoimmune polyendocrine syndrome;DNA:repeat:promoter (human)		 ClinVar
HPO
RGD		 PMID:18192540 PMID:20007936 PMID:20226046 PMID:20938745 PMID:20948967 More... MIM:125852 MIM:618858, RGD:150340607, RGD:150340611, RGD:150340608 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Type I diabetes mellitus ClinVar PMID:18192540 PMID:20007936 PMID:20226046 PMID:20938745 PMID:20948967 More... NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G ITCH itchy E3 ubiquitin protein ligase IAGP HPO MIM:613385 ORPHA:228426 NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773 		JBrowse link
G ITPR3 inositol 1,4,5-trisphosphate receptor type 3 IAGP ClinVar Annotator: match by term: Type I diabetes mellitus ClinVar PMID:25741868 NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Type I diabetes mellitus HPO
ClinVar		 PMID:25741868 MIM:618856 ORPHA:276580 NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO ORPHA:2036 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G LRBA LPS responsive beige-like anchor protein IAGP HPO MIM:614700 NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO MIM:619269 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,097...222,668,007 		JBrowse link
G MMP14 matrix metallopeptidase 14 IAGP HPO ORPHA:371428 NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041 		JBrowse link
G MMP2 matrix metallopeptidase 2 IAGP HPO ORPHA:371428 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691 		JBrowse link
G MST1 macrophage stimulating 1 IAGP HPO ORPHA:171 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:2596 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP HPO MIM:620365 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890 		JBrowse link
G NEUROG3 neurogenin 3 IAGP HPO ORPHA:83620 NCBI chr10:69,571,485...69,573,422
Ensembl chr10:69,571,698...69,573,422 		JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO MIM:621004 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:436252 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 IAGP HPO ORPHA:69126 NCBI chr15:76,994,680...77,037,475
Ensembl chr15:76,993,359...77,037,475 		JBrowse link
G SEMA4D semaphorin 4D IAGP HPO ORPHA:171 NCBI chr 9:89,360,787...89,498,113
Ensembl chr 9:89,360,787...89,498,130 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO MIM:602782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906 		JBrowse link
G SPI1 Spi-1 proto-oncogene IAGP HPO MIM:619707 NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO MIM:615952 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STOX1 storkhead box 1 IAGP HPO ORPHA:275555 NCBI chr10:68,827,531...68,895,432
Ensembl chr10:68,827,531...68,895,432 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO ORPHA:171 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Type I diabetes mellitus ClinVar PMID:25741868 PMID:33953728 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TKT transketolase IAGP HPO ORPHA:488618 NCBI chr 3:53,224,712...53,256,022
Ensembl chr 3:53,224,712...53,256,052 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO MIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO ORPHA:436252 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137 		JBrowse link
Type II diabetes mellitus 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 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:1021286 PMID:3202066 PMID:7716548 PMID:7908292 PMID:8650576 More... MIM:125853 MIM:610374 NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894 		JBrowse link
G ACADS acyl-CoA dehydrogenase short chain IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:18523805 PMID:25741868 PMID:28492532 NCBI chr12:120,725,826...120,740,008
Ensembl chr12:120,725,774...120,740,008 		JBrowse link
G ACP7 acid phosphatase 7, tartrate resistant (putative) IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,083,788...39,111,493
Ensembl chr19:39,083,913...39,111,493 		JBrowse link
G ACTN4 actinin alpha 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589 		JBrowse link
G ADAMTS9-AS2 ADAMTS9 antisense RNA 2 susceptibility IAGP DNA:SNP:: (rs4607103) (human) RGD PMID:28821857 RGD:401850599 NCBI chr 3:64,684,870...65,011,468
Ensembl chr 3:64,684,879...65,061,892 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 ORPHA:99725 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:9536098 PMID:15166380 PMID:16722806 PMID:17327441 PMID:17576681 More... MIM:125853 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO ORPHA:79095 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G AR androgen receptor IAGP HPO ORPHA:481 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229 		JBrowse link
G ATM ATM serine/threonine kinase IAGP HPO ORPHA:100 NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415 		JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006 		JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655 		JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487 		JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO MIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BMP6 bone morphogenetic protein 6 IAGP HPO MIM:620121 NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO MIM:269700 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G C10orf67 chromosome 10 open reading frame 67 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr10:23,201,916...23,344,797
Ensembl chr10:23,202,696...23,344,845 		JBrowse link
G C12orf43 chromosome 12 open reading frame 43 IAGP ClinVar Annotator: match by term: Type II diabetes mellitus
ClinVar Annotator: match by term: Type 2 diabetes mellitus		 ClinVar PMID:10588527 PMID:12488962 PMID:23348805 PMID:24728327 PMID:25057215 More... NCBI chr12:121,000,486...121,016,487
Ensembl chr12:121,000,486...121,016,502 		JBrowse link
G C19orf47 chromosome 19 open reading frame 47 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,292,954...40,348,527
Ensembl chr19:40,319,536...40,348,527 		JBrowse link
G CAPN12 calpain 12 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,730,192...38,744,693
Ensembl chr19:38,730,187...38,769,904 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO MIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CAT catalase IAGP HPO ORPHA:926 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G CCNP cyclin P IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,222,208...40,226,689
Ensembl chr19:40,222,208...40,226,697 		JBrowse link
G CD36 CD36 molecule (CD36 blood group) IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:16911630 PMID:16952981 PMID:25741868 PMID:32347024 PMID:32796572 NCBI chr 7:80,602,207...80,679,274
Ensembl chr 7:80,369,575...80,679,277 		JBrowse link
G CDKAL1 CDK5 regulatory subunit associated protein 1 like 1 disease_progression IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
DNA:SNP:intron: (rs7756992) (human)		 ClinVar
RGD		 PMID:17460697 PMID:17463246 PMID:17463248 PMID:17463249 PMID:24760768 More... RGD:401850599 NCBI chr 6:20,534,457...21,232,404
Ensembl chr 6:20,534,457...21,232,404 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar PMID:25741868 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CELA2A chymotrypsin like elastase 2A IAGP HPO MIM:618620 NCBI chr 1:15,456,732...15,472,091
Ensembl chr 1:15,456,728...15,472,091 		JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO MIM:615703 ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201 		JBrowse link
G CLC Charcot-Leyden crystal galectin IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,731,255...39,738,029
Ensembl chr19:39,731,255...39,738,029 		JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein IAGP HPO MIM:602668 ORPHA:606 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922 		JBrowse link
G CPE carboxypeptidase E IAGP DNA:SNP:cds (rs1583645) (human) HPO
RGD		 PMID:23776430 MIM:619326, RGD:405650683 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP HPO ORPHA:91 NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO ORPHA:453533 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO MIM:604121 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:28492532 MIM:615812 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G ECH1 enoyl-CoA hydratase 1 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,815,422...38,831,794
Ensembl chr19:38,815,422...38,831,841 		JBrowse link
G EID2 EP300 interacting inhibitor of differentiation 2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,538,707...39,540,161
Ensembl chr19:39,538,707...39,540,161 		JBrowse link
G EID2B EP300 interacting inhibitor of differentiation 2B IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,530,987...39,532,852
Ensembl chr19:39,530,987...39,532,852 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:8960499 PMID:9536098 PMID:10480624 PMID:11739459 PMID:12881724 More... MIM:125853 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G FBL fibrillarin IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,834,458...39,846,379
Ensembl chr19:39,834,458...39,846,379 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2833 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBXO17 F-box protein 17 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,941,401...38,975,742
Ensembl chr19:38,941,401...38,975,742 		JBrowse link
G FBXO27 F-box protein 27 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,005,842...39,032,549
Ensembl chr19:38,990,714...39,032,785 		JBrowse link
G FCGBP Fc gamma binding protein IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,863,323...39,934,634
Ensembl chr19:39,863,323...39,934,626 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GCGR glucagon receptor IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus HPO
ClinVar		 PMID:7773293 PMID:8563746 PMID:25741868 PMID:28492532 MIM:619290 NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008 		JBrowse link
G GCK glucokinase IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:1360036 PMID:1397713 PMID:1502186 PMID:2555564 PMID:7553875 More... MIM:125853 ORPHA:79299 NCBI chr 7:44,143,213...44,189,439
Ensembl chr 7:44,143,213...44,198,170 		JBrowse link
G GLRX5 glutaredoxin 5 IAGP HPO MIM:616860 NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724 		JBrowse link
G GMFG glia maturation factor gamma IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,328,359...39,336,043
Ensembl chr19:39,328,353...39,342,372 		JBrowse link
G GP6 glycoprotein VI platelet IAGP associated with intermediate coronary syndrome;DNA:missense mutation:CDS: (rs1671152) RGD PMID:33076381 RGD:401794569 NCBI chr19:55,013,705...55,038,264
Ensembl chr19:55,013,705...55,038,264 		JBrowse link
G GPD2 glycerol-3-phosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:9070847 PMID:25741868 MIM:125853 NCBI chr 2:156,400,281...156,586,403
Ensembl chr 2:156,435,290...156,613,735 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GRB14 growth factor receptor bound protein 14 susceptibility IAGP RGD PMID:27281273 RGD:401850598 NCBI chr 2:164,492,417...164,621,482
Ensembl chr 2:164,492,417...164,621,482 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,379,271...40,390,181
Ensembl chr19:40,379,271...40,390,181 		JBrowse link
G HMGA1 high mobility group AT-hook 1 IAGP HPO MIM:125853 NCBI chr 6:34,236,873...34,246,231
Ensembl chr 6:34,236,873...34,246,231 		JBrowse link
G HNF1A HNF1 homeobox A susceptibility
onset		 IAGP ClinVar Annotator: match by term: Type II diabetes
ClinVar Annotator: match by term: Type II diabetes mellitus
ClinVar Annotator: match by term: Type 2 diabetes mellitus
DNA:SNP:cds: p.G319S (human)		 ClinVar
HPO
RGD		 PMID:7842064 PMID:8945470 PMID:9032114 PMID:9075818 PMID:9075819 More... MIM:125853 MIM:600496, RGD:329901835, RGD:329901816, RGD:329901814 NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512 		JBrowse link
G HNF1B HNF1 homeobox B IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:9398836 PMID:9536098 PMID:10672455 PMID:11085914 PMID:11317673 More... MIM:125853 NCBI chr17:37,686,431...37,745,059
Ensembl chr17:37,686,431...37,745,059 		JBrowse link
G HNF4A hepatocyte nuclear factor 4 alpha IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:9267996 PMID:9313765 PMID:9449683 PMID:10227563 PMID:10389854 More... MIM:125853 NCBI chr20:44,355,699...44,434,596
Ensembl chr20:44,355,699...44,432,845 		JBrowse link
G HNRNPL heterogeneous nuclear ribonucleoprotein L IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,836,370...38,852,347
Ensembl chr19:38,836,370...38,852,347 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 susceptibility IAGP DNA:SNPs:intron: (rs12086634,rs846910) (human) RGD PMID:28750217 RGD:329901909 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949 		JBrowse link
G IDE insulin degrading enzyme IAGP DNA:SNP:cds (rs6583813) (human) RGD PMID:23776430 RGD:405650683 NCBI chr10:92,451,684...92,574,093
Ensembl chr10:92,451,684...92,574,096 		JBrowse link
G IFNL1 interferon lambda 1 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,296,407...39,298,673
Ensembl chr19:39,296,407...39,298,673 		JBrowse link
G IFNL2 interferon lambda 2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,268,396...39,270,188
Ensembl chr19:39,268,396...39,270,188 		JBrowse link
G IFNL3 interferon lambda 3 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,243,455...39,245,250
Ensembl chr19:39,243,455...39,245,250 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805 		JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 IAGP HPO MIM:125853 NCBI chr 3:185,643,130...185,825,042
Ensembl chr 3:185,643,130...185,825,042 		JBrowse link
G IL6 interleukin 6 IAGP HPO MIM:125853 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:20226046 More... NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar PMID:17047922 PMID:17855560 PMID:18162506 PMID:18171712 PMID:20226046 More... NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G INSR insulin receptor IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:1607076 PMID:2040394 PMID:7814014 PMID:8432414 PMID:8900242 More... ORPHA:2297 NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO MIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G IRS1 insulin receptor substrate 1 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:11775217 PMID:12679424 PMID:24033266 PMID:25741868 PMID:28492532 MIM:125853 NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820 		JBrowse link
G IRS2 insulin receptor substrate 2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus HPO
ClinVar		 PMID:10525667 PMID:11030756 PMID:11473060 PMID:11600548 PMID:25741868 MIM:125853 NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583 		JBrowse link
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar PMID:1422196 PMID:9867219 PMID:10559219 PMID:11318841 PMID:11395395 More... NCBI chr11:17,385,248...17,389,346
Ensembl chr11:17,365,172...17,389,331 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 susceptibility IAGP RGD PMID:27281273 RGD:401850598 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KLF11 KLF transcription factor 11 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:15774581 PMID:18199129 PMID:25741868 PMID:28492532 PMID:34393998 MIM:610508 NCBI chr 2:10,043,550...10,054,836
Ensembl chr 2:10,042,849...10,054,836 		JBrowse link
G KSR2 kinase suppressor of ras 2 IAGP ClinVar Annotator: match by term: Type II diabetes mellitus ClinVar PMID:24209692 PMID:25741868 NCBI chr12:117,453,012...117,968,990
Ensembl chr12:117,453,012...117,968,990 		JBrowse link
G LEUTX leucine twenty homeobox IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,776,453...39,786,291
Ensembl chr19:39,776,595...39,786,291 		JBrowse link
G LGALS13 galectin 13 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,602,524...39,607,474
Ensembl chr19:39,602,524...39,607,474 		JBrowse link
G LGALS14 galectin 14 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,704,481...39,709,444
Ensembl chr19:39,704,481...39,709,444 		JBrowse link
G LGALS16 galectin 16 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,655,913...39,660,647
Ensembl chr19:39,655,913...39,660,647 		JBrowse link
G LGALS4 galectin 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,801,674...38,812,945
Ensembl chr19:38,801,671...38,812,945 		JBrowse link
G LGALS7 galectin 7 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,770,968...38,773,517
Ensembl chr19:38,789,200...38,791,754
Ensembl chr19:38,789,200...38,791,754 		JBrowse link
G LGALS7B galectin 7B IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,789,200...38,791,754
Ensembl chr19:38,789,200...38,791,754
Ensembl chr19:38,789,200...38,791,754 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO MIM:606593 ORPHA:99812 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LIPC lipase C, hepatic type IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:1671786 PMID:1883393 PMID:8123642 PMID:8732782 PMID:12777476 More... MIM:125853 NCBI chr15:58,431,991...58,569,844
Ensembl chr15:58,410,569...58,569,844 		JBrowse link
G LMF1 lipase maturation factor 1 IAGP HPO MIM:246650 NCBI chr16:853,634...981,613
Ensembl chr16:853,634...981,318 		JBrowse link
G LMNA lamin A/C IAGP HPO MIM:151660 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LOC110121471 VISTA enhancer hs1977 IAGP ClinVar Annotator: match by term: Type II diabetes mellitus
ClinVar Annotator: match by term: Type 2 diabetes mellitus		 ClinVar PMID:17446535 PMID:18497752 PMID:24622368 PMID:24825091 PMID:25555642 More... NCBI chr11:17,412,970...17,415,128 JBrowse link
G LOC110121472 VISTA enhancer hs1980 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr10:112,997,945...112,998,897 JBrowse link
G LOC126807011 MED14-independent group 3 enhancer GRCh37_chr4:26407341-26408540 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:29924900 NCBI chr 4:26,405,719...26,406,918 JBrowse link
G LOC126862549 BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 IAGP ClinVar Annotator: match by term: Type II diabetes mellitus
ClinVar Annotator: match by term: Type 2 diabetes mellitus		 ClinVar PMID:9398836 PMID:10672455 PMID:11845238 PMID:12148114 PMID:14583183 More... NCBI chr17:37,733,408...37,734,611 JBrowse link
G LRFN1 leucine rich repeat and fibronectin type III domain containing 1 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,306,566...39,320,863
Ensembl chr19:39,306,566...39,320,863 		JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO MIM:610947 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044 		JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042 		JBrowse link
G MAFA MAF bZIP transcription factor A IAGP HPO MIM:147630 NCBI chr 8:143,428,064...143,430,732
Ensembl chr 8:143,419,182...143,430,732 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO MIM:176270 ORPHA:398069 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MANF mesencephalic astrocyte derived neurotrophic factor IAGP HPO MIM:620651 NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397 		JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,191,426...40,215,575
Ensembl chr19:40,191,426...40,215,575 		JBrowse link
G MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1 IAGP ClinVar Annotator: match by term: Type II diabetes mellitus HPO
ClinVar		 MIM:125853 NCBI chr11:45,885,651...45,906,465
Ensembl chr11:45,885,651...45,906,465 		JBrowse link
G MATN4 matrilin 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr20:45,293,450...45,308,684
Ensembl chr20:45,293,445...45,308,529 		JBrowse link
G MC4R melanocortin 4 receptor IAGP HPO ORPHA:71529 NCBI chr18:60,371,062...60,372,775
Ensembl chr18:60,371,062...60,372,775 		JBrowse link
G MED29 mediator complex subunit 29 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,391,378...39,400,641
Ensembl chr19:39,391,303...39,400,641 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:99725 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO MIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO MIM:176270
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MOG myelin oligodendrocyte glycoprotein IAGP HPO MIM:614250 NCBI chr 6:29,657,092...29,672,365
Ensembl chr 6:29,657,002...29,672,372 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO MIM:256810 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MRPS12 mitochondrial ribosomal protein S12 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,930,944...38,933,168
Ensembl chr19:38,930,944...38,933,168 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137 		JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647 		JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G MTNR1B melatonin receptor 1B IAGP HPO MIM:125853 NCBI chr11:92,969,651...92,984,960
Ensembl chr11:92,969,651...92,985,066 		JBrowse link
G NCCRP1 NCCRP1, F-box associated domain containing IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,196,964...39,201,884
Ensembl chr19:39,196,964...39,201,884 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NEUROD1 neuronal differentiation 1 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:10545951 PMID:16321269 PMID:25041077 PMID:25741868 PMID:28095440 More... MIM:125853 NCBI chr 2:181,668,295...181,680,517
Ensembl chr 2:181,668,295...181,680,827 		JBrowse link
G NFKBIB NFKB inhibitor beta IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,899,666...38,908,889
Ensembl chr19:38,899,700...38,908,893 		JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP HPO MIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G PAF1 PAF1 homolog, Paf1/RNA polymerase II complex component IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,385,629...39,391,106
Ensembl chr19:39,385,629...39,391,154 		JBrowse link
G PAK4 p21 (RAC1) activated kinase 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,125,786...39,182,816
Ensembl chr19:39,125,770...39,182,816 		JBrowse link
G PAX4 paired box 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:9536098 PMID:11723072 PMID:15509590 PMID:15596543 PMID:16423628 More... MIM:125853 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142 		JBrowse link
G PCNT pericentrin IAGP HPO MIM:210720 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PCYT1A phosphate cytidylyltransferase 1A, choline IAGP HPO MIM:620680 NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957 		JBrowse link
G PDX1 pancreatic and duodenal homeobox 1 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:10545530 More... MIM:125853 MIM:606392 NCBI chr13:27,920,000...27,926,313
Ensembl chr13:27,920,000...27,926,313 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO ORPHA:247815 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PLCD1 phospholipase C delta 1 IAGP HPO ORPHA:2387 NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642 		JBrowse link
G PLD3 phospholipase D family member 3 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP HPO ORPHA:2377 NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP HPO ORPHA:163976 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:9753710 PMID:10690291 PMID:25157153 PMID:25741868 PMID:28492532 MIM:125853 MIM:604367 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356 		JBrowse link
G PPP1R3A protein phosphatase 1 regulatory subunit 3A IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:7581368 PMID:25741868 MIM:125853 NCBI chr 7:113,876,777...113,919,009
Ensembl chr 7:113,876,777...114,075,920 		JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,971,165...39,981,764
Ensembl chr19:39,971,165...39,981,764 		JBrowse link
G PTF1A pancreas associated transcription factor 1a IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 IAGP HPO MIM:125853 NCBI chr20:50,510,383...50,585,241
Ensembl chr20:50,510,321...50,585,241 		JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO MIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055 		JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO MIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365 		JBrowse link
G RBP4 retinol binding protein 4 susceptibility IAGP DNA:SNP:promoter:-803G>A (human) RGD PMID:18496666 RGD:329845878 NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25741868 PMID:29924900 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RBPJL recombination signal binding protein for immunoglobulin kappa J region like IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25741868 NCBI chr20:45,306,840...45,317,824
Ensembl chr20:45,306,840...45,317,824 		JBrowse link
G RETN resistin IAGP HPO MIM:125853 NCBI chr19:7,669,049...7,670,455
Ensembl chr19:7,669,049...7,670,455 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RINL Ras and Rab interactor like IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,867,830...38,878,275
Ensembl chr19:38,867,830...38,878,275 		JBrowse link
G RPS16 ribosomal protein S16 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,433,137...39,435,949
Ensembl chr19:39,433,137...39,435,949 		JBrowse link
G SAMD4B sterile alpha motif domain containing 4B IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,342,421...39,390,764
Ensembl chr19:39,342,421...39,385,710 		JBrowse link
G SARS2 seryl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,915,266...38,930,763
Ensembl chr19:38,915,266...38,930,763 		JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444 		JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600 		JBrowse link
G SDC4 syndecan 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr20:45,325,288...45,348,424
Ensembl chr20:45,325,288...45,348,424 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SELENOV selenoprotein V IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,515,113...39,520,686
Ensembl chr19:39,515,139...39,520,675 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO MIM:613406 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIRT2 sirtuin 2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:38,878,555...38,899,618
Ensembl chr19:38,878,555...38,899,862 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus
ClinVar Annotator: match by term: Type II diabetes mellitus		 ClinVar
HPO		 PMID:8027028 PMID:8063045 PMID:9354798 PMID:11810292 PMID:13480676 More... MIM:125853 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:1397719 PMID:1918382 PMID:7814014 PMID:25741868 NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257 		JBrowse link
G SLC30A8 solute carrier family 30 member 8 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:24584071 PMID:25741868 PMID:31676859 MIM:125853 NCBI chr 8:116,950,217...117,176,714
Ensembl chr 8:116,950,273...117,176,714 		JBrowse link
G SLPI secretory leukocyte peptidase inhibitor IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564 		JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO MIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804 		JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO MIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 IAGP HPO ORPHA:412057 NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,445,582...39,476,670
Ensembl chr19:39,436,156...39,476,670 		JBrowse link
G SYCN syncollin IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,202,825...39,204,263
Ensembl chr19:39,202,825...39,204,263 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TCF7L2 transcription factor 7 like 2 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:25741868 MIM:125853 NCBI chr10:112,950,247...113,167,678
Ensembl chr10:112,950,247...113,167,678 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G THRB thyroid hormone receptor beta IAGP HPO MIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078 		JBrowse link
G TTC9B tetratricopeptide repeat domain 9B IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,216,058...40,218,384
Ensembl chr19:40,216,058...40,218,384 		JBrowse link
G UBE2E2 ubiquitin conjugating enzyme E2 E2 susceptibility IAGP RGD PMID:27281273 RGD:401850598 NCBI chr 3:23,203,098...23,591,925
Ensembl chr 3:23,203,020...23,591,794 		JBrowse link
G VPS26A VPS26 retromer complex component A susceptibility IAGP DNA:SNP:: (rs1802295) (Human) RGD PMID:27281273 PMID:28821857 RGD:401850598, RGD:401850599 NCBI chr10:69,124,178...69,174,412
Ensembl chr10:69,123,512...69,174,412 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein susceptibility IAGP ClinVar Annotator: match by term: Type II diabetes
ClinVar Annotator: match by term: Type II diabetes mellitus
ClinVar Annotator: match by term: Type 2 diabetes mellitus
DNA:SNP:: (rs10010131) (Human)		 ClinVar
HPO
RGD		 PMID:1161832 PMID:1615141 PMID:3126496 PMID:3442652 PMID:3478949 More... MIM:125853 MIM:614296, RGD:401850599 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
G WRN WRN RecQ like helicase IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar
HPO		 PMID:20443122 PMID:25741868 PMID:28492532 ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility IAGP DNA:SNP:cd: p.R399Q G>A (rs25487) (human) RGD PMID:30472145 RGD:401827275 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO ORPHA:99812 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G ZFP36 ZFP36 ring finger protein IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,406,847...39,409,407
Ensembl chr19:39,406,847...39,409,407 		JBrowse link
G ZNF546 zinc finger protein 546 IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:39,997,060...40,021,038
Ensembl chr19:39,984,134...40,021,038 		JBrowse link
G ZNF780A zinc finger protein 780A IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,069,152...40,090,943
Ensembl chr19:40,069,152...40,090,943 		JBrowse link
G ZNF780B zinc finger protein 780B IAGP ClinVar Annotator: match by term: Type 2 diabetes mellitus ClinVar PMID:28492532 NCBI chr19:40,028,260...40,056,231
Ensembl chr19:40,028,260...40,056,231 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of the endocrine system 5616
        Diabetes mellitus 1092
          Diabetic ketoacidosis 20
          Insulin-resistant diabetes mellitus + 44
          Maturity-onset diabetes of the young 21
          Type I diabetes mellitus 85
          Type II diabetes mellitus + 232
Path 2
Term Annotations click to browse term
  Human phenotype 95636
    Phenotypic abnormality 95258
      Abnormality of metabolism/homeostasis 6028
        Abnormal homeostasis 3100
          Abnormal glucose homeostasis 1863
            Glucose intolerance 1295
              Diabetes mellitus 1092
                Diabetic ketoacidosis 20
                Insulin-resistant diabetes mellitus + 44
                Maturity-onset diabetes of the young 21
                Type I diabetes mellitus 85
                Type II diabetes mellitus + 232
paths to the root