Rare Diabetes Mellitus Type 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: RRD013 MIFTS: 32	Rare Diabetes Mellitus Type 2 Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
Genes Variations Related diseases Pathways Expand all tables

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Aliases & Classifications for Rare Diabetes Mellitus Type 2

MalaCards integrated aliases for Rare Diabetes Mellitus Type 2:

Name: Rare Diabetes Mellitus Type 2 ⁵⁹

Rare Insulin-Independent Diabetes Mellitus ⁵⁹

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Endocrine diseases Reproductive diseases Blood diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare endocrine diseases

External Ids:

UMLS via Orphanet ⁷³ C0011860

Orphanet ⁵⁹ ORPHA181376

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Summaries for Rare Diabetes Mellitus Type 2

MalaCards based summary : Rare Diabetes Mellitus Type 2, also known as rare insulin-independent diabetes mellitus, is related to maturity-onset diabetes of the young, type 14 and munchausen by proxy. An important gene associated with Rare Diabetes Mellitus Type 2 is HNF1A (HNF1 Homeobox A), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Related phenotypes are no effect and endocrine/exocrine gland

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Related Diseases for Rare Diabetes Mellitus Type 2

Diseases in the Diabetes Mellitus family:

Diabetes Mellitus, Congenital Autoimmune	Type 1 Diabetes Mellitus 2
Type 1 Diabetes Mellitus 3	Type 1 Diabetes Mellitus 4
Type 1 Diabetes Mellitus 5	Type 1 Diabetes Mellitus 6
Type 1 Diabetes Mellitus 7	Type 1 Diabetes Mellitus 8
Type 1 Diabetes Mellitus 10	Type 1 Diabetes Mellitus 11
Type 1 Diabetes Mellitus 12	Type 1 Diabetes Mellitus 13
Type 1 Diabetes Mellitus 15	Type 1 Diabetes Mellitus 17
Type 1 Diabetes Mellitus 18	Rare Diabetes Mellitus Type 1
Rare Diabetes Mellitus Type 2	Rare Diabetes Mellitus

Diseases related to Rare Diabetes Mellitus Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)

#	Related Disease	Score	Top Affiliating Genes
1	maturity-onset diabetes of the young, type 14	10.4	HNF1A GCK ABCC8
2	munchausen by proxy	10.3	KCNJ11 GCK ABCC8
3	cardiomyopathy, dilated, 1o	10.3	KCNJ11 ABCC8
4	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	10.3	KCNJ11 ABCC8
5	pancreatic agenesis	10.3	KCNJ11 GCK ABCC8
6	maturity-onset diabetes of the young, type 4	10.2	HNF4A HNF1B HNF1A GCK
7	maturity-onset diabetes of the young, type 2	10.2	HNF4A HNF1B HNF1A GCK
8	diabetes mellitus, permanent neonatal	10.2	KCNJ11 GCK ABCC8
9	insulin-like growth factor i	10.1	IRS1 INSR AKT2
10	endocrine pancreas disease	10.1	KCNJ11 IRS1 GCK ABCC8
11	hypoglycemia	10.0	KCNJ11 INSR GCK AKT2 ABCC8
12	maturity-onset diabetes of the young, type 3	10.0	NEUROD1 HNF4A HNF1B HNF1A GCK
13	glucose intolerance	10.0	IRS1 INSR GCK
14	hyperinsulinemic hypoglycemia	9.9	KCNJ11 INSR HNF4A GCK ABCC8
15	renal cysts and diabetes syndrome	9.9	NEUROD1 HNF4A HNF1B HNF1A GCK
16	hyperinsulinism	9.9	KCNJ11 INSR HNF4A GCK ABCC8
17	insulinoma	9.8	WFS1 SLC2A2 GCK ABCC8
18	diabetes mellitus, insulin-dependent	9.8	WFS1 PAX4 HNF1A GCK
19	glucose metabolism disease	9.8	SLC2A2 KCNJ11 IRS1 GCK ABCC8
20	acquired metabolic disease	9.8	SLC2A2 KCNJ11 IRS1 GCK ABCC8
21	monogenic diabetes	9.7	PAX4 KCNJ11 HNF4A HNF1A GCK ABCC8
22	neonatal diabetes mellitus	9.6	SLC2A2 NEUROD1 KCNJ11 HNF1B GCK ABCC8
23	maturity-onset diabetes of the young, type 6	9.5	NEUROD1 HNF4A HNF1B HNF1A GCK CAPN10
24	maturity-onset diabetes of the young, type 7	9.5	NEUROD1 HNF4A HNF1B HNF1A GCK CAPN10
25	polycystic ovary syndrome	9.5	IRS1 INSR CAPN10
26	gestational diabetes	9.5	KCNJ11 IRS1 INSR HNF4A GCK CAPN10
27	maturity-onset diabetes of the young, type 13	9.4	PAX4 NEUROD1 KCNJ11 HNF4A HNF1A GCK
28	hyperglycemia	9.3	SLC2A2 KCNJ11 IRS1 INSR HNF1A GCK
29	body mass index quantitative trait locus 11	9.0	SLC2A2 IRS1 INSR GCK ENPP1 CAPN10
30	maturity-onset diabetes of the young	8.6	SLC2A2 PAX4 NEUROD1 KCNJ11 IRS1 HNF4A
31	diabetes mellitus	5.5	WFS1 SLC2A2 PAX4 NEUROD1 MAPK8IP1 KCNJ11
32	diabetes mellitus, noninsulin-dependent	4.9	WFS1 SLC2A2 PAX4 NEUROD1 MAPK8IP1 KCNJ11
33	maturity-onset diabetes of the young, type 1	4.9	WFS1 SLC2A2 PAX4 NEUROD1 MAPK8IP1 KCNJ11

Graphical network of the top 20 diseases related to Rare Diabetes Mellitus Type 2:

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Symptoms & Phenotypes for Rare Diabetes Mellitus Type 2

GenomeRNAi Phenotypes related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	9.92	ABCC8 AKT2 CAPN10 ENPP1 GCGR GCK

MGI Mouse Phenotypes related to Rare Diabetes Mellitus Type 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	10.31	ABCC8 AKT2 CAPN10 GCGR GCK GPD2
2	growth/size/body region	MP:0005378	10.3	AKT2 CAPN10 ENPP1 GCGR GCK GPD2
3	homeostasis/metabolism	MP:0005376	10.28	ABCC8 AKT2 CAPN10 ENPP1 GCGR GCK
4	behavior/neurological	MP:0005386	10.13	ENPP1 GCGR GPD2 HNF1A INSR KCNJ11
5	adipose tissue	MP:0005375	10.11	AKT2 CAPN10 ENPP1 GCGR GPD2 HNF1A
6	liver/biliary system	MP:0005370	10.07	AKT2 CAPN10 ENPP1 GCGR GCK GPD2
7	mortality/aging	MP:0010768	10.06	AKT2 ENPP1 GCGR GCK GPD2 HNF1A
8	muscle	MP:0005369	9.56	AKT2 ENPP1 HNF1A HNF1B INSR IRS1
9	renal/urinary system	MP:0005367	9.17	CAPN10 ENPP1 GCK HNF1A HNF1B INSR

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Drugs & Therapeutics for Rare Diabetes Mellitus Type 2

Search Clinical Trials , NIH Clinical Center for Rare Diabetes Mellitus Type 2

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Genetic Tests for Rare Diabetes Mellitus Type 2

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Anatomical Context for Rare Diabetes Mellitus Type 2

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Publications for Rare Diabetes Mellitus Type 2

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Genes for Rare Diabetes Mellitus Type 2

Genes related to Rare Diabetes Mellitus Type 2 (16 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HNF1A	HNF1 Homeobox A	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Risk factor ⁶
2	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶
3	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	400	Pathogenic ⁶
4	GCGR	Glucagon Receptor	Protein Coding	400	Pathogenic ⁶
5	GCK	Glucokinase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
6	GPD2	Glycerol-3-Phosphate Dehydrogenase 2	Protein Coding	400	Pathogenic ⁶
7	HNF1B	HNF1 Homeobox B	Protein Coding	400	Pathogenic ⁶
8	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	400	Pathogenic ⁶
9	INSR	Insulin Receptor	Protein Coding	400	Pathogenic ⁶
10	IRS1	Insulin Receptor Substrate 1	Protein Coding	400	Pathogenic ⁶
11	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	400	Pathogenic/Likely pathogenic ⁶ Pathogenic ⁶
12	MAPK8IP1	Mitogen-Activated Protein Kinase 8 Interacting Protein 1	Protein Coding	400	Pathogenic ⁶
13	NEUROD1	Neuronal Differentiation 1	Protein Coding	400	Pathogenic ⁶
14	PAX4	Paired Box 4	Protein Coding	400	Pathogenic ⁶
15	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	400	Pathogenic ⁶
16	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	400	Pathogenic ⁶
17	CAPN10	Calpain 10	Protein Coding	25	Risk factor ⁶
18	ENPP1	Ectonucleotide Pyrophosphatase/Phosphodiesterase 1	Protein Coding	25	Risk factor ⁶
19	HMGA1	High Mobility Group AT-Hook 1	Protein Coding	25	Risk factor ⁶
20	IGF2BP2	Insulin Like Growth Factor 2 MRNA Binding Protein 2	Protein Coding	25	Risk factor ⁶
21	IL6	Interleukin 6	Protein Coding	25	Risk factor ⁶

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Variations for Rare Diabetes Mellitus Type 2

ClinVar genetic disease variations for Rare Diabetes Mellitus Type 2:

⁶ (show top 50) (show all 152)

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	PPARG	NM_138712.3(PPARG): c.-2-29900A> G	single nucleotide variant	association	rs1553638903	3:12391303-12391303	3:12349804-12349804
2	PPARG	NM_138712.3(PPARG): c.-2-29880A> T	single nucleotide variant	association	rs1553638909	3:12391323-12391323	3:12349824-12349824
3	PPARG	NM_138712.3(PPARG): c.-2-28918A> C	single nucleotide variant	association	rs948820149	3:12392285-12392285	3:12350786-12350786
4	SLC2A2	NM_000340.2(SLC2A2): c.1331G> A (p.Trp444Ter)	single nucleotide variant	Affects	rs1553784995	3:170716025-170716025	3:170998236-170998236
5	SLC30A8	NM_001172813.2(SLC30A8): c.265C> T (p.Arg89Ter)	single nucleotide variant	protective	rs200185429	8:118165323-118165323	8:117153084-117153084
6	SLC30A8	NM_001172813.2(SLC30A8): c.-47_-41del	deletion	protective	rs587777582	8:118159222-118159228	8:117146983-117146989
7	HNF4A	NM_000457.4(HNF4A): c.253C> T (p.Arg85Trp)	single nucleotide variant	Pathogenic	rs587777732	20:43034835-43034835	20:44406195-44406195
8	GCK	NM_000162.5(GCK): c.766G> A (p.Glu256Lys)	single nucleotide variant	Pathogenic	rs769268803	7:44187346-44187346	7:44147747-44147747
9	NEUROD1	NM_002500.4(NEUROD1): c.332G> T (p.Arg111Leu)	single nucleotide variant	Pathogenic	rs104893649	2:182543256-182543256	2:181678529-181678529
10	KCNJ11	NM_000525.3(KCNJ11): c.967dup (p.Asp323fs)	duplication	Pathogenic	rs1554901596	11:17408672-17408672	11:17387125-17387125
11	GCK	NM_000162.5(GCK): c.544G> A (p.Val182Met)	single nucleotide variant	Pathogenic	rs587780345	7:44189603-44189603	7:44150004-44150004
12	HNF1A	NM_000545.6(HNF1A): c.814C> T (p.Arg272Cys)	single nucleotide variant	Pathogenic	rs1555212014	12:121432067-121432067	12:120994264-120994264
13	SLC2A2	NM_000340.2(SLC2A2): c.963+1G> A	single nucleotide variant	Pathogenic	rs371977235	3:170723073-170723073	3:171005284-171005284
14	ABCC8	NM_000352.5(ABCC8): c.221G> A (p.Arg74Gln)	single nucleotide variant	Pathogenic	rs72559734	11:17496502-17496502	11:17474955-17474955
15	GCK	NM_000162.5(GCK): c.667G> A (p.Gly223Ser)	single nucleotide variant	Pathogenic	rs1360415315	7:44189371-44189371	7:44149772-44149772
16	MAPK8IP1	NM_005456.4(MAPK8IP1): c.176G> A (p.Ser59Asn)	single nucleotide variant	Pathogenic	rs119489103	11:45919710-45919710	11:45898159-45898159
17	WFS1	NM_006005.3(WFS1): c.330C> A (p.Tyr110Ter)	single nucleotide variant	Pathogenic	rs1553876668	4:6290728-6290728	4:6289001-6289001
18	PDX1	NM_000209.4(PDX1): c.492G> T (p.Glu164Asp)	single nucleotide variant	Pathogenic,risk factor	rs80356661	13:28498478-28498478	13:27924341-27924341
19	ABCC8	NM_000352.5(ABCC8): c.4135C> T (p.Arg1379Cys)	single nucleotide variant	Pathogenic	rs137852673	11:17417462-17417462	11:17395915-17395915
20	ABCC8	NM_000352.5(ABCC8): c.1744C> G (p.Leu582Val)	single nucleotide variant	Pathogenic	rs137852674	11:17452434-17452434	11:17430887-17430887
21	HNF1B	NM_000458.4(HNF1B): c.1395C> G (p.Ser465Arg)	single nucleotide variant	Pathogenic	rs121918673	17:36061127-36061127	17:37701122-37701122
22	PAX4	NM_001366110.1(PAX4): c.385C> T (p.Arg129Trp)	single nucleotide variant	Pathogenic	rs114202595	7:127254587-127254587	7:127614533-127614533
23	AKT2	NM_001626.6(AKT2): c.821G> A (p.Arg274His)	single nucleotide variant	Pathogenic	rs121434593	19:40743886-40743886	19:40237979-40237979
24	INSR	NM_000208.4(INSR): c.3572G> A (p.Arg1191Gln)	single nucleotide variant	Pathogenic	rs121913150	19:7120718-7120718	19:7120707-7120707
25	HNF1A	NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu)	single nucleotide variant	Pathogenic	rs137853236	12:121435307-121435307	12:120997504-120997504
26	GPD2	NM_001083112.3(GPD2): c.1904T> C (p.Phe635Ser)	single nucleotide variant	Pathogenic	rs121918407	2:157435621-157435621	2:156579109-156579109
27	GCGR	NM_000160.5(GCGR): c.118G> A (p.Gly40Ser)	single nucleotide variant	Pathogenic	rs1801483	17:79767715-79767715	17:81809839-81809839
28	IRS1	NM_005544.2(IRS1): c.2164_2166GGT[1] (p.Gly723del)	short repeat	Pathogenic		2:227661286-227661288	2:226796570-226796572
29	IRS1	NM_005544.2(IRS1): c.1823C> G (p.Thr608Arg)	single nucleotide variant	Pathogenic	rs104893642	2:227661632-227661632	2:226796916-226796916
30	KCNJ11	NM_000525.3(KCNJ11): c.844G> A (p.Glu282Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs267607196	11:17408795-17408795	11:17387248-17387248
31	HNF1A	NM_000545.6(HNF1A): c.1135C> G (p.Pro379Ala)	single nucleotide variant	Pathogenic/Likely pathogenic	rs754729248	12:121434371-121434371	12:120996568-120996568
32	ABCC8	NM_000352.5(ABCC8): c.4432G> A (p.Gly1478Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs72559715	11:17415926-17415926	11:17394379-17394379
33	ABCC8	NM_000352.5(ABCC8): c.4306C> T (p.Arg1436Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs193922402	11:17417158-17417158	11:17395611-17395611
34	GCK	NM_000162.5(GCK): c.676G> A (p.Val226Met)	single nucleotide variant	Pathogenic/Likely pathogenic	rs148311934	7:44189362-44189362	7:44149763-44149763
35	ABCC8	NM_000352.5(ABCC8): c.2506C> T (p.Arg836Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs72559722	11:17434263-17434263	11:17412716-17412716
36	IL6	IL6, -174G-C	single nucleotide variant	risk factor
37	GCK	NM_000162.5(GCK): c.1358C> T (p.Ser453Leu)	single nucleotide variant	Likely pathogenic	rs193922283	7:44184775-44184775	7:44145176-44145176
38	RETN	RETN, +62G-A	single nucleotide variant	risk factor
39	RBPJL	NC_000020.10: g.43914005C> G	single nucleotide variant	risk factor	rs76474829	20:43914005-43914005	20:45285365-45285365
40	RBPJL	NM_014276.4(RBPJL): c.839C> T (p.Thr280Met)	single nucleotide variant	risk factor	rs200998587	20:43942756-43942756	20:45314116-45314116
41	PDX1	NM_000209.4(PDX1): c.590G> A (p.Arg197His)	single nucleotide variant	risk factor	rs137852786	13:28498576-28498576	13:27924439-27924439
42	WRN	NM_000553.5(WRN): c.724+1G> T	single nucleotide variant	Likely pathogenic	rs1339616347	8:30925844-30925844	8:31068328-31068328
43	TCF7L2	NM_030756.5(TCF7L2): c.382-41435C> T	single nucleotide variant	drug response	rs7903146	10:114758349-114758349	10:112998590-112998590
44	TCF7L2	NM_030756.5(TCF7L2): c.483+9017G> T	single nucleotide variant	risk factor	rs12255372	10:114808902-114808902	10:113049143-113049143
45	TCF7L2	NM_030756.5(TCF7L2): c.483+7162G> C	single nucleotide variant	risk factor	rs11196205	10:114807047-114807047	10:113047288-113047288
46	ABCC8 ; KCNJ11	NM_000525.3(KCNJ11): c.67A> G (p.Lys23Glu)	single nucleotide variant	drug response	rs5219	11:17409572-17409572	11:17388025-17388025
47	ABCC8	NM_000352.5(ABCC8): c.290+2T> C	single nucleotide variant	Likely pathogenic	rs1554948310	11:17496431-17496431	11:17474884-17474884
48	IGF2BP2	NM_006548.6(IGF2BP2): c.239+29254C> A	single nucleotide variant	risk factor	rs4402960	3:185511687-185511687	3:185793899-185793899
49	CAPN10	NM_023083.4(CAPN10): c.471-176G> A	single nucleotide variant	risk factor	rs3792267	2:241531174-241531174	2:240591757-240591757
50	CAPN10	NM_023083.4(CAPN10): c.997+136_998-148dup	duplication	risk factor	rs3842570	2:241534262-241534293	2:240594845-240594876

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Expression for Rare Diabetes Mellitus Type 2

Search GEO for disease gene expression data for Rare Diabetes Mellitus Type 2.

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Pathways for Rare Diabetes Mellitus Type 2

Pathways related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

(show all 24)

#	Super pathways	Score	Top Affiliating Genes
1	Developmental Biology ⁶⁶ Show member pathways Axon guidance ⁶⁶	13.32	SLC2A2 PAX4 NEUROD1 IRS1 HNF4A HNF1B
2	Aldosterone synthesis and secretion ³⁷ Show member pathways Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	12.73	SLC2A2 KCNJ11 GCK AKT2 ABCC8
3	Glucose / Energy Metabolism ⁴	12.41	WFS1 NEUROD1 IRS1 INSR HNF4A HNF1A
4	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	12.39	IRS1 INSR ENPP1 AKT2
5	Prolactin Signaling Pathway ¹ ³⁷ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.35	SLC2A2 IRS1 GCK AKT2
6	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.34	HNF4A HNF1B HNF1A AKT2
7	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁷ AMPK Signaling Pathway ⁶⁷	12.29	IRS1 INSR HNF4A AKT2
8	WNT Signaling ⁶⁴	12.28	HNF4A HNF1B HNF1A AKT2
9	Integration of energy metabolism ⁶⁶ Show member pathways Acetylcholine regulates insulin secretion ⁶⁶ AMPK inhibits chREBP transcriptional activation activity ⁶⁶ ChREBP activates metabolic gene expression ⁶⁶ PKA-mediated phosphorylation of key metabolic factors ⁶⁶ PP2A-mediated dephosphorylation of key metabolic factors ⁶⁶ Regulation of insulin secretion ⁶⁶	12.23	SLC2A2 KCNJ11 GCGR ABCC8
10	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.92	SLC2A2 PAX4 NEUROD1 HNF1B
11	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.89	SLC2A2 NEUROD1 INSR HNF4A HNF1B HNF1A
12	Cell cycle Cell cycle (generic schema) ²² Show member pathways Cell cycle Regulation of G1/S transition (part 2) ²² G0 and Early G1 ⁶⁶ G2 Phase ⁶⁶	11.85	HNF4A HNF1B HNF1A AKT2
13	DNA Damage Response (only ATM dependent) ¹	11.85	IRS1 INSR AKT2
14	Insulin resistance ³⁷ Show member pathways protein O-[N-acetyl]-glucosylation ¹	11.82	SLC2A2 IRS1 INSR AKT2
15	Glucagon signaling pathway ³⁷	11.76	SLC2A2 GCK GCGR AKT2
16	Regulation of beta-cell development ⁶⁶ Show member pathways Maturity onset diabetes of the young ³⁷ Regulation of gene expression in beta cells ⁶⁶ Regulation of gene expression in early pancreatic precursor cells ⁶⁶ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁶ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁶	11.56	SLC2A2 PAX4 NEUROD1 HNF4A HNF1B HNF1A
17	Central carbon metabolism in cancer ³⁷	11.55	SLC2A2 GCK AKT2
18	Regulation of lipolysis in adipocytes ³⁷	11.44	IRS1 INSR AKT2
19	Development_Leptin signaling via PI3K-dependent pathway ²²	11.39	KCNJ11 IRS1 AKT2 ABCC8
20	Insulin Pathway ¹	11.32	IRS1 INSR AKT2
21	Type II diabetes mellitus ¹ ³⁷ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶¹	11.3	SLC2A2 NEUROD1 KCNJ11 IRS1 INSR HNF4A
22	FOXA2 and FOXA3 transcription factor networks ¹	11.28	SLC2A2 KCNJ11 HNF4A HNF1A GCK ABCC8
23	Insulin signalling in human adipocytes (diabetic condition) ¹ Show member pathways Insulin signalling in human adipocytes (normal condition) ¹	10.78	IRS1 INSR AKT2
24	Dichloroethylene metabolism ²²	10.45	HNF4A HNF1A

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GO Terms for Rare Diabetes Mellitus Type 2

Cellular components related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	insulin receptor complex	GO:0005899	8.96	IRS1 INSR
2	inward rectifying potassium channel	GO:0008282	8.62	KCNJ11 ABCC8

Biological processes related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

(show all 27)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of apoptotic process	GO:0043066	9.91	PAX4 MAPK8IP1 HNF1B AKT2
2	response to drug	GO:0042493	9.91	PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
3	carbohydrate metabolic process	GO:0005975	9.88	SLC2A2 INSR GCK AKT2
4	insulin receptor signaling pathway	GO:0008286	9.77	IRS1 INSR AKT2
5	glucose metabolic process	GO:0006006	9.73	KCNJ11 GCK AKT2
6	response to glucose	GO:0009749	9.71	NEUROD1 HNF4A HNF1B HNF1A
7	insulin secretion	GO:0030073	9.67	NEUROD1 HNF1B HNF1A
8	positive regulation of glucose import	GO:0046326	9.67	IRS1 INSR CAPN10 AKT2
9	negative regulation of insulin secretion	GO:0046676	9.65	KCNJ11 IRS1 ABCC8
10	hindbrain development	GO:0030902	9.63	NEUROD1 HNF1B
11	endocrine pancreas development	GO:0031018	9.63	PAX4 NEUROD1 HNF1A
12	cellular response to insulin stimulus	GO:0032869	9.63	IRS1 INSR GCK ENPP1 CAPN10 AKT2
13	signal transduction involved in regulation of gene expression	GO:0023019	9.62	NEUROD1 HNF4A
14	cellular glucose homeostasis	GO:0001678	9.62	GCK ABCC8
15	pancreas development	GO:0031016	9.62	WFS1 PAX4 HNF1B HNF1A
16	hepatocyte differentiation	GO:0070365	9.61	HNF4A HNF1B
17	positive regulation of glucose metabolic process	GO:0010907	9.59	IRS1 AKT2
18	positive regulation of fatty acid beta-oxidation	GO:0032000	9.58	IRS1 AKT2
19	positive regulation of transcription initiation from RNA polymerase II promoter	GO:0060261	9.57	HNF1B HNF1A
20	positive regulation of glycogen biosynthetic process	GO:0045725	9.56	IRS1 INSR GCK AKT2
21	regulation of cell cycle arrest	GO:0071156	9.55	NEUROD1 AKT2
22	negative regulation of type B pancreatic cell apoptotic process	GO:2000675	9.54	WFS1 NEUROD1
23	regulation of pronephros size	GO:0035565	9.43	HNF1B HNF1A
24	regulation of insulin secretion	GO:0050796	9.43	SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
25	glucose homeostasis	GO:0042593	9.23	WFS1 NEUROD1 IRS1 INSR HNF4A HNF1A
26	regulation of transcription, DNA-templated	GO:0006355	10.17	PAX4 NEUROD1 MAPK8IP1 INSR HNF4A HNF1A
27	positive regulation of transcription, DNA-templated	GO:0045893	10	NEUROD1 INSR HNF4A HNF1B HNF1A HMGA1

Molecular functions related to Rare Diabetes Mellitus Type 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sequence-specific DNA binding	GO:0043565	9.55	PAX4 NEUROD1 HNF4A HNF1B HNF1A
2	insulin-like growth factor receptor binding	GO:0005159	8.96	IRS1 INSR
3	ATP-activated inward rectifier potassium channel activity	GO:0015272	8.32	KCNJ11

Sources

Sources for Rare Diabetes Mellitus Type 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia