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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Diabetes Mellitus (D003920)
..Starting node ..Diabetes Mellitus, Type 2 (D003924)
Child Nodes:
........Diabetes Mellitus, Lipoatrophic (D003923) 1
........Diabetes Mellitus, Noninsulin-Dependent, 1 (C563359)
........Diabetes Mellitus, Noninsulin-Dependent, 2 (C563323)
........Diabetes Mellitus, Noninsulin-Dependent, 3 (C566342)
........Diabetes Mellitus, Noninsulin-Dependent, Type 4 (C564299)
........Diabetes Mellitus, Type II, Autosomal Dominant (C562773)
........Mason-Type Diabetes (C562772)
........Maturity-Onset Diabetes of the Young, Type 1 (C565101)
........Maturity-Onset Diabetes of the Young, Type 2 (C564219)
........Maturity-Onset Diabetes of the Young, Type 3 (C563933)
........Maturity-Onset Diabetes of the Young, Type 4 (C563451)
........Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (C565225)
........Maturity-Onset Diabetes Of The Young, Type 9 (C567393)
........MODY, Type 6 (C565231)
........Noninsulin-dependent diabetes mellitus with deafness (C536246)
........Renal cysts and diabetes syndrome (C535520)
Sister Nodes:
..6q24-Related Transient Neonatal Diabetes Mellitus (C579872)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Diabetes Complications (D048909) 23
..Diabetes Mellitus, Congenital Autoimmune (C565730)
..Diabetes Mellitus, Experimental (D003921)
..Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans (C562710)
..Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism (C565705)
..Diabetes Mellitus, Permanent Neonatal (C563425)
..Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis (C563796)
..Diabetes Mellitus, Permanent Neonatal, With Neurologic Features (C563424)
..Diabetes Mellitus, Transient Neonatal, 1 (C563322)
..Diabetes Mellitus, Transient Neonatal, 2 (C563672)
..Diabetes Mellitus, Transient Neonatal, 3 (C566432)
..Diabetes Mellitus, Type 1 (D003922) 26
..Diabetes Mellitus, Type 2 (D003924) 17
..Diabetes, Gestational (D016640) 5
..Diabetic Ketoacidosis (D016883)
..Donohue Syndrome (D056731) 1
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Furukawa Takagi Nakao syndrome (C538193)
..Herrmann syndrome (C538113)
..Hyperproinsulinemia (C562776)
..Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules (C535905)
..Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..Martinez-Frias Syndrome (C563346)
..MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10 (OMIM:613370)
..MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (OMIM:613375)
..Maturity-Onset Diabetes of the Young, Type 7 (C566466)
..Mitchell-Riley Syndrome (C567570)
..Mitochondrial Myopathy with Diabetes (C564026)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Pancreatic beta cell agenesis with neonatal diabetes mellitus (C538111)
..Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease (C564011)
..Prediabetic State (D011236)
..Premature aging, Okamoto type (C535270)
..Thiamine responsive megaloblastic anemia syndrome (C536510)
..Wolfram Syndrome, Mitochondrial Form (C564012)
..Woodhouse Sakati syndrome (C536742)
..Yorifuji Okuno syndrome (C536714)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3307

Name:

Diabetes Mellitus, Type 2

Definition:

A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.

Alternative IDs:

OMIM:125853

ParentIDs:

MESH:D003920

TreeNumbers:

C18.452.394.750.149 |C19.246.300

Synonyms:

Slim Mappings:

Endocrine system disease|Metabolic disease

Reference:

MedGen: D003924
MeSH: D003924
OMIM: 125853;

Genes: ABCC8; AKT2; CDKAL1; ENPP1; GCGR; GCK; GPD2; HMGA1; HNF1A; HNF1B; HNF4A; IGF2BP2; IL6; IRS1; IRS2; KCNJ11; LIPC; MAPK8IP1; MTNR1B; NEUROD1; PAX4; PDX1; PPARG; PTPN1; RETN; SLC2A2; SLC30A8; TCF7L2; WFS1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003584	Late onset
3	HP:0000855	Insulin resistance
4	HP:0005978	Type II diabetes mellitus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001287174.1(ABCC8):c.4138C>T (p.Arg1380Cys)	6833	ABCC8	Pathogenic	137852673	RCV000009674; RCV000009673;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006; MedGen:C1835887,OMIM:610374	11	17417462	17417462	NM_001287174.1:c.4138C>T	NP_001274103.1:p.Arg1380Cys	NC_000011.9:g.17417462G>A,NC_000011.9:g.17417462G>T	OMIM Allelic Variant:600509.0019	C0011860 125853 Diabetes mellitus type 2; C1835887 610374 Transient neonatal diabetes mellitus 2
NM_001287174.1(ABCC8):c.1744C>G (p.Leu582Val)	6833	ABCC8	Pathogenic	137852674	RCV000009676; RCV000009675;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006; MedGen:C1835887,OMIM:610374	11	17452434	17452434	NM_001287174.1:c.1744C>G	NP_001274103.1:p.Leu582Val	NC_000011.9:g.17452434G>C	OMIM Allelic Variant:600509.0020	C0011860 125853 Diabetes mellitus type 2; C1835887 610374 Transient neonatal diabetes mellitus 2
NM_001626.5(AKT2):c.821G>A (p.Arg274His)	208	AKT2	Pathogenic	121434593	RCV000015016;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	19	40743886	40743886	NM_001626.5:c.821G>A	NP_001617.1:p.Arg274His	NC_000019.9:g.40743886C>T	OMIM Allelic Variant:164731.0001	C0011860 125853 Diabetes mellitus type 2
NM_023083.3(CAPN10):c.471-176G>A	11132	CAPN10	risk factor	3792267	RCV000005398;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	2	241531174	241531174	NM_023083.3:c.471-176G>A		NC_000002.11:g.241531174G>A	OMIM Allelic Variant:605286.0001	C0011860 125853 Diabetes mellitus type 2
NM_017774.3(CDKAL1):c.371+11426A>C	54901	CDKAL1	Uncertain significance	10946398	RCV000001037;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	6	20661034	20661034	NM_017774.3:c.371+11426A>C		NC_000006.11:g.20661034A>C	OMIM Allelic Variant:611259.0001	C0011860 125853 Diabetes mellitus type 2
NM_017774.3(CDKAL1):c.371+30101A>G	54901	CDKAL1	Uncertain significance	7756992	RCV000001038;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	6	20679709	20679709	NM_017774.3:c.371+30101A>G		NC_000006.11:g.20679709A>G	OMIM Allelic Variant:611259.0002	C0011860 125853 Diabetes mellitus type 2
NM_006208.2(ENPP1):c.517A>C (p.Lys173Gln)	5167	ENPP1	Benign;risk factor	1044498	RCV000014559; RCV000014558; RCV000033192; RCV000178259;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006; MedGen:C0028754,OMIM:601665,ORPHA:71529,SNOMED CT:414916001; MedGen:C1852091; MedGen:CN169374	6	132172368	132172368	NM_006208.2:c.517A>C	NP_006199.2:p.Lys173Gln	NC_000006.11:g.132172368A>C	OMIM Allelic Variant:173335.0006	C0011860 125853 Diabetes mellitus type 2; C1852091 Insulin resistance, susceptibility to; CN169374 not specified; C0028754 601665 Obesity
NM_000160.4(GCGR):c.118G>A (p.Gly40Ser)	2642	GCGR	Pathogenic	1801483	RCV000017542;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	17	79767715	79767715	NM_000160.4:c.118G>A	NP_000151.1:p.Gly40Ser	NC_000017.10:g.79767715G>A	OMIM Allelic Variant:138033.0001	C0011860 125853 Diabetes mellitus type 2
NM_001083112.2(GPD2):c.1904T>C (p.Phe635Ser)	2820	GPD2	Pathogenic	121918407	RCV000017461;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	2	157435621	157435621	NM_001083112.2:c.1904T>C	NP_001076581.2:p.Phe635Ser	NC_000002.11:g.157435621T>C	OMIM Allelic Variant:138430.0001	C0011860 125853 Diabetes mellitus type 2
NM_000545.6(HNF1A):c.1522G>A (p.Glu508Lys)	6927	HNF1A	not provided	483353044	RCV000122743;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	12	121437091	121437091	NM_000545.6:c.1522G>A	NP_000536.5:p.Glu508Lys	NC_000012.11:g.121437091G>A	-	C0011860 125853 Diabetes mellitus type 2
NM_000458.3(HNF1B):c.1395C>G (p.Ser465Arg)	6928	HNF1B	Pathogenic	121918673	RCV000013476;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	17	36061127	36061127	NM_000458.3:c.1395C>G	NP_000449.1:p.Ser465Arg	NC_000017.10:g.36061127G>C	OMIM Allelic Variant:189907.0007	C0011860 125853 Diabetes mellitus type 2
NM_000457.4(HNF4A):c.1204G>A (p.Val402Ile)	3172	HNF4A	Pathogenic	137853337	RCV000009793;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	20	43057049	43057049	NM_000457.4:c.1204G>A	NP_000448.3:p.Val402Ile	NC_000020.10:g.43057049G>A	OMIM Allelic Variant:600281.0004	C0011860 125853 Diabetes mellitus type 2
NM_006548.4(IGF2BP2):c.239+29254C>A	10644	IGF2BP2	risk factor	4402960	RCV000002537;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	3	185511687	185511687	NM_006548.4:c.239+29254C>A		NC_000003.11:g.185511687G>T	OMIM Allelic Variant:608289.0001	C0011860 125853 Diabetes mellitus type 2
NM_000208.3(INSR):c.3572G>A (p.Arg1191Gln)	3643	INSR	Pathogenic	121913150	RCV000015815;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	19	7120718	7120718	NM_000208.3:c.3572G>A	NP_000199.2:p.Arg1191Gln	NC_000019.9:g.7120718C>T	OMIM Allelic Variant:147670.0021	C0011860 125853 Diabetes mellitus type 2
NM_000208.3(INSR):c.3034G>A (p.Val1012Met)	3643	INSR	Benign;Pathogenic;Uncertain significance	1799816	RCV000015822; RCV000175131;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006; MedGen:CN169374	19	7125518	7125518	NM_000208.3:c.3034G>A	NP_000199.2:p.Val1012Met		OMIM Allelic Variant:147670.0029	C0011860 125853 Diabetes mellitus type 2; CN169374 not specified
NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg)	3667	IRS1	Pathogenic	104893642	RCV000022626;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	2	227661632	227661632	NM_005544.2:c.1823C>G	NP_005535.1:p.Thr608Arg	NC_000002.11:g.227661632G>C	OMIM Allelic Variant:147545.0003	C0011860 125853 Diabetes mellitus type 2
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)	3767	KCNJ11	Benign;drug response;risk factor	5219	RCV000009214; RCV000020356; RCV000009215; RCV000146116;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006; MedGen:C1833104,OMIM:606176; MedGen:C3152078; MedGen:CN169374	11	17409572	17409572	NM_000525.3:c.67A>G	NP_000516.3:p.Lys23Glu	NC_000011.9:g.17409572T>C	OMIM Allelic Variant:600937.0014	C0011860 125853 Diabetes mellitus type 2; C3152078 Exercise stress response, impaired, association with; CN169374 not specified; C1833104 606176 Permanent neonatal diabetes mellitus
NM_005456.3(MAPK8IP1):c.176G>A (p.Ser59Asn)	9479	MAPK8IP1	Pathogenic	119489103	RCV000005752;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	11	45919710	45919710	NM_005456.3:c.176G>A	NP_005447.1:p.Ser59Asn	NC_000011.9:g.45919710G>A	OMIM Allelic Variant:604641.0001	C0011860 125853 Diabetes mellitus type 2
NM_002500.4(NEUROD1):c.332G>T (p.Arg111Leu)	4760	NEUROD1	Pathogenic	104893649	RCV000008303;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	2	182543256	182543256	NM_002500.4:c.332G>T	NP_002491.2:p.Arg111Leu	NC_000002.11:g.182543256C>A	OMIM Allelic Variant:601724.0001	C0011860 125853 Diabetes mellitus type 2
NM_006193.2(PAX4):c.361C>T (p.Arg121Trp)	5078	PAX4	Pathogenic	114202595	RCV000014800;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	7	127254587	127254587	NM_006193.2:c.361C>T	NP_006184.2:p.Arg121Trp	NC_000007.13:g.127254587G>A	OMIM Allelic Variant:167413.0001	C0011860 125853 Diabetes mellitus type 2
NM_000340.1(SLC2A2):c.589G>A (p.Val197Ile)	6514	SLC2A2	Pathogenic	121909741	RCV000017470;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	3	170724960	170724960	NM_000340.1:c.589G>A	NP_000331.1:p.Val197Ile	NC_000003.11:g.170724960C>T	OMIM Allelic Variant:138160.0001	C0011860 125853 Diabetes mellitus type 2
NM_001042.2(SLC2A4):c.1147G>A (p.Val383Ile)	6517	SLC2A4	Uncertain significance	121434581	RCV000017469;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	17	7189048	7189048	NM_001042.2:c.1147G>A	NP_001033.1:p.Val383Ile	NC_000017.10:g.7189048G>A	OMIM Allelic Variant:138190.0001	C0011860 125853 Diabetes mellitus type 2
NM_173851.2(SLC30A8):c.101_107delAAGATCA (p.Lys34Serfs)	169026	SLC30A8	protective	587777582	RCV000129931;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	8	118159222	118159228	NM_173851.2:c.101_107delAAGATCA	NP_776250.2:p.Lys34Serfs		OMIM Allelic Variant:611145.0003	C0011860 125853 Diabetes mellitus type 2
NM_173851.2(SLC30A8):c.412C>T (p.Arg138Ter)	169026	SLC30A8	protective	200185429	RCV000129930;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	8	118165323	118165323	NM_173851.2:c.412C>T	NP_776250.2:p.Arg138Ter	NC_000008.10:g.118165323C>T	OMIM Allelic Variant:611145.0002	C0011860 125853 Diabetes mellitus type 2
NM_030756.4(TCF7L2):c.382-41435C>T	6934	TCF7L2	drug response	7903146	RCV000007838; RCV000211424;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006; MedGen:CN236522	10	114758349	114758349	NM_030756.4:c.382-41435C>T		NC_000010.10:g.114758349C>T	OMIM Allelic Variant:602228.0001,PharmGKB Clinical Annotation:1043858905,PharmGKB:1043858905	C0011860 125853 Diabetes mellitus type 2; CN236522 sulfonamides, urea derivatives response - Efficacy
NM_030756.4(TCF7L2):c.483+7162G>C	6934	TCF7L2	risk factor	11196205	RCV000007840;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	10	114807047	114807047	NM_030756.4:c.483+7162G>C		NC_000010.10:g.114807047G>C	OMIM Allelic Variant:602228.0003	C0011860 125853 Diabetes mellitus type 2
NM_030756.4(TCF7L2):c.483+9017G>T	6934	TCF7L2	risk factor	12255372	RCV000007839;	N	MedGen:C0011860,OMIM:125853,SNOMED CT:44054006	10	114808902	114808902	NM_030756.4:c.483+9017G>T		NC_000010.10:g.114808902G>T	OMIM Allelic Variant:602228.0002	C0011860 125853 Diabetes mellitus type 2