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 Tissues 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 ⁵⁸

Rare Insulin-Independent Diabetes Mellitus ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare endocrine diseases

External Ids:

UMLS via Orphanet ⁷² C0011860

Orphanet ⁵⁸ 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 ERK Signaling and TGF-Beta Pathway. Affiliated tissues include pancreas, and related phenotypes are growth/size/body region 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 50)

#	Related Disease	Score	Top Affiliating Genes
1	maturity-onset diabetes of the young, type 14	10.3	HNF1A GCK
2	munchausen by proxy	10.2	KCNJ11 GCK ABCC8
3	hyperinsulinemic hypoglycemia, familial, 7	10.2	KCNJ11 GCK ABCC8
4	acute insulin response	10.1	KCNJ11 ABCC8
5	hyperinsulinemic hypoglycemia, familial, 2	10.1	KCNJ11 HNF4A ABCC8
6	hyperinsulinemic hypoglycemia, familial, 6	10.1	GCK ABCC8
7	diabetes mellitus, ketosis-prone	10.1	PAX4 KCNJ11 ABCC8
8	cardiomyopathy, dilated, 1o	10.1	SLC2A2 KCNJ11 ABCC8
9	insulin-like growth factor i	10.1	IRS1 INSR AKT2
10	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	10.0	WFS1 KCNJ11 ABCC8
11	donohue syndrome	10.0	KCNJ11 IRS1 INSR GCK
12	pancreatic agenesis	10.0	NEUROD1 KCNJ11 GCK ABCC8
13	cervical incompetence	9.9	MAPK8IP1 IL6
14	carbohydrate metabolic disorder	9.9	SLC2A2 KCNJ11 GCK ABCC8
15	pancreatic cystadenoma	9.9	SLC2A2 NEUROD1 GCK ABCC8
16	maturity-onset diabetes of the young, type 11	9.9	PAX4 NEUROD1 KCNJ11 ABCC8
17	contractures, pterygia, and variable skeletal fusions syndrome 1a	9.9	KCNJ11 HNF4A HNF1B HNF1A GCK
18	fanconi-bickel syndrome	9.8	SLC2A2 ABCC8
19	maturity-onset diabetes of the young, type 10	9.8	PAX4 NEUROD1 KCNJ11 GCK ABCC8
20	hyperinsulinemic hypoglycemia	9.7	KCNJ11 INSR HNF4A HNF1A GCK ABCC8
21	transient neonatal diabetes mellitus	9.7	SLC2A2 NEUROD1 KCNJ11 GCK ABCC8
22	lipid metabolism disorder	9.7	IRS1 INSR IL6 HNF4A
23	hyperinsulinism	9.7	KCNJ11 IRS1 INSR HNF4A GCK ABCC8
24	hypoglycemia	9.6	SLC2A2 KCNJ11 INSR GCK AKT2 ABCC8
25	acquired metabolic disease	9.6	SLC2A2 IRS1 IL6 GCK
26	maturity-onset diabetes of the young, type 13	9.6	PAX4 NEUROD1 KCNJ11 HNF4A GCK ABCC8
27	maturity-onset diabetes of the young, type 8, with exocrine dysfunction	9.6	PAX4 NEUROD1 KCNJ11 HNF4A GCK ABCC8
28	maturity-onset diabetes of the young, type 9	9.6	PAX4 NEUROD1 KCNJ11 HNF4A GCK ABCC8
29	monogenic diabetes	9.5	WFS1 KCNJ11 HNF4A HNF1B HNF1A GCK
30	wolfram syndrome	9.5	WFS1 KCNJ11 IGF2BP2
31	maturity-onset diabetes of the young, type 7	9.4	PAX4 NEUROD1 KCNJ11 HNF4A HNF1B GCK
32	glucose metabolism disease	9.4	SLC2A2 KCNJ11 IRS1 IL6 GCK ABCC8
33	maturity-onset diabetes of the young, type 6	9.3	PAX4 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
34	renal cysts and diabetes syndrome	9.3	PAX4 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
35	insulinoma	9.2	WFS1 SLC2A2 PAX4 NEUROD1 HNF1A GCK
36	endocrine pancreas disease	9.2	SLC2A2 KCNJ11 IRS1 INSR IL6 GCK
37	maturity-onset diabetes of the young, type 4	9.0	SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
38	maturity-onset diabetes of the young, type 3	9.0	SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
39	maturity-onset diabetes of the young, type 1	9.0	SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
40	diabetes mellitus, permanent neonatal	9.0	WFS1 SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A
41	neonatal diabetes mellitus	8.8	WFS1 SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A
42	maturity-onset diabetes of the young, type 2	8.7	WFS1 SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A
43	hyperglycemia	8.6	SLC2A2 PAX4 KCNJ11 IRS1 INSR IL6
44	diabetes mellitus, insulin-dependent	8.6	WFS1 SLC2A2 PAX4 NEUROD1 INSR IL6
45	glucose intolerance	8.6	KCNJ11 IRS1 INSR IL6 HNF1A GCK
46	gestational diabetes	8.4	KCNJ11 IRS1 INSR IL6 HNF4A HNF1A
47	body mass index quantitative trait locus 11	8.1	SLC2A2 KCNJ11 IRS1 INSR IL6 HNF4A
48	maturity-onset diabetes of the young	7.5	WFS1 SLC2A2 PAX4 NEUROD1 KCNJ11 IRS1
49	diabetes mellitus	6.0	WFS1 SLC2A2 PAX4 NEUROD1 MAPK8IP1 KCNJ11
50	diabetes mellitus, noninsulin-dependent	5.5	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

MGI Mouse Phenotypes related to Rare Diabetes Mellitus Type 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.32	AKT2 CAPN10 ENPP1 GCK GPD2 HNF1A
2	endocrine/exocrine gland	MP:0005379	10.31	ABCC8 AKT2 CAPN10 GCK GPD2 HNF1A
3	homeostasis/metabolism	MP:0005376	10.3	ABCC8 AKT2 CAPN10 ENPP1 GCK GPD2
4	behavior/neurological	MP:0005386	10.23	ENPP1 GPD2 HNF1A IGF2BP2 IL6 INSR
5	adipose tissue	MP:0005375	10.18	AKT2 CAPN10 ENPP1 GPD2 HNF1A IGF2BP2
6	cellular	MP:0005384	10.17	AKT2 ENPP1 GCK HNF1A HNF4A IL6
7	liver/biliary system	MP:0005370	10.1	AKT2 CAPN10 ENPP1 GCK GPD2 HNF1A
8	mortality/aging	MP:0010768	10.09	AKT2 ENPP1 GCK GPD2 HNF1A HNF1B
9	muscle	MP:0005369	9.61	AKT2 ENPP1 HNF1A HNF1B IL6 INSR
10	renal/urinary system	MP:0005367	9.23	CAPN10 ENPP1 GCK HNF1A HNF1B IL6

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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

MalaCards organs/tissues related to Rare Diabetes Mellitus Type 2:

⁴⁰

Pancreas

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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 (15 elite genes):

(show all 20)

- 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 ⁶ Pathogenic/Likely pathogenic ⁶
3	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	400	Pathogenic ⁶
4	GCK	Glucokinase	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
5	GPD2	Glycerol-3-Phosphate Dehydrogenase 2	Protein Coding	400	Pathogenic ⁶
6	HNF1B	HNF1 Homeobox B	Protein Coding	400	Pathogenic ⁶
7	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	400	Pathogenic ⁶
8	INSR	Insulin Receptor	Protein Coding	400	Pathogenic ⁶
9	IRS1	Insulin Receptor Substrate 1	Protein Coding	400	Pathogenic ⁶
10	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶
11	MAPK8IP1	Mitogen-Activated Protein Kinase 8 Interacting Protein 1	Protein Coding	400	Pathogenic ⁶
12	NEUROD1	Neuronal Differentiation 1	Protein Coding	400	Pathogenic ⁶
13	PAX4	Paired Box 4	Protein Coding	400	Pathogenic ⁶
14	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	400	Pathogenic ⁶
15	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	400	Pathogenic ⁶
16	CAPN10	Calpain 10	Protein Coding	25	Risk factor ⁶
17	ENPP1	Ectonucleotide Pyrophosphatase/Phosphodiesterase 1	Protein Coding	25	Risk factor ⁶
18	HMGA1	High Mobility Group AT-Hook 1	Protein Coding	25	Risk factor ⁶
19	IGF2BP2	Insulin Like Growth Factor 2 MRNA Binding Protein 2	Protein Coding	25	Risk factor ⁶
20	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 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SLC30A8	NM_001172813.2(SLC30A8):c.265C>T (p.Arg89Ter)	SNV	protective	141421	rs200185429	8:118165323-118165323	8:117153084-117153084
2	SLC30A8	NM_001172813.2(SLC30A8):c.-47_-41del	deletion	protective	141422	rs587777582	8:118159221-118159227	8:117146982-117146988
3	PPARG	NM_005037.5(PPARG):c.-2-29900A>G	SNV	association	440735	rs1553638903	3:12391303-12391303	3:12349804-12349804
4	PPARG	NM_005037.5(PPARG):c.-2-29880A>T	SNV	association	440734	rs1553638909	3:12391323-12391323	3:12349824-12349824
5	PPARG	NM_005037.5(PPARG):c.-2-28918A>C	SNV	association	440733	rs948820149	3:12392285-12392285	3:12350786-12350786
6	SLC2A2	NM_000340.2(SLC2A2):c.1331G>A (p.Trp444Ter)	SNV	Affects	444009	rs1553784995	3:170716025-170716025	3:170998236-170998236
7	SLC2A2	NM_000340.2(SLC2A2):c.963+1G>A	SNV	Pathogenic	444008	rs371977235	3:170723073-170723073	3:171005284-171005284
8	GCK	NM_000162.5(GCK):c.544G>A (p.Val182Met)	SNV	Pathogenic	129144	rs587780345	7:44189603-44189603	7:44150004-44150004
9	GCK	NM_000162.5(GCK):c.667G>A (p.Gly223Ser)	SNV	Pathogenic	435306	rs1360415315	7:44189371-44189371	7:44149772-44149772
10	HNF1A	NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys)	SNV	Pathogenic	447503	rs1555212014	12:121432067-121432067	12:120994264-120994264
11	KCNJ11	NM_000525.3(KCNJ11):c.967dup (p.Asp323fs)	duplication	Pathogenic	478917	rs1554901596	11:17408671-17408672	11:17387124-17387125
12	ABCC8	NM_001287174.2(ABCC8):c.221G>A (p.Arg74Gln)	SNV	Pathogenic	495834	rs72559734	11:17496502-17496502	11:17474955-17474955
13	WFS1	NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)	SNV	Pathogenic	523067	rs1553876668	4:6290728-6290728	4:6289001-6289001
14	GCK	NM_000162.5(GCK):c.766G>A (p.Glu256Lys)	SNV	Pathogenic	265175	rs769268803	7:44187346-44187346	7:44147747-44147747
15	GPD2	NM_000408.5(GPD2):c.1904T>C (p.Phe635Ser)	SNV	Pathogenic	16081	rs121918407	2:157435621-157435621	2:156579109-156579109
16	IRS1	NM_005544.2(IRS1):c.2164_2166GGT[1] (p.Gly723del)	short repeat	Pathogenic	29760	rs1259467443	2:227661286-227661288	2:226796570-226796572
17	IRS1	NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg)	SNV	Pathogenic	29762	rs104893642	2:227661632-227661632	2:226796916-226796916
18	PDX1	NM_000209.4(PDX1):c.492G>T (p.Glu164Asp)	SNV	Pathogenic,risk factor	8864	rs80356661	13:28498478-28498478	13:27924341-27924341
19	ABCC8	NM_001287174.2(ABCC8):c.4138C>T (p.Arg1380Cys)	SNV	Pathogenic	9105	rs137852673	11:17417462-17417462	11:17395915-17395915
20	ABCC8	NM_001287174.2(ABCC8):c.1744C>G (p.Leu582Val)	SNV	Pathogenic	9106	rs137852674	11:17452434-17452434	11:17430887-17430887
21	HNF1B	NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)	SNV	Pathogenic	12641	rs121918673	17:36061127-36061127	17:37701122-37701122
22	PAX4	NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)	SNV	Pathogenic	13790	rs114202595	7:127254587-127254587	7:127614533-127614533
23	AKT2	NM_001626.6(AKT2):c.821G>A (p.Arg274His)	SNV	Pathogenic	13982	rs121434593	19:40743886-40743886	19:40237979-40237979
24	INSR	NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln)	SNV	Pathogenic	14700	rs121913150	19:7120718-7120718	19:7120707-7120707
25	HNF1A	NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)	SNV	Pathogenic	14928	rs137853236	12:121435307-121435307	12:120997504-120997504
26	HNF4A	NM_000457.4(HNF4A):c.253C>T (p.Arg85Trp)	SNV	Pathogenic	156152	rs587777732	20:43034835-43034835	20:44406195-44406195
27	MAPK8IP1	NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn)	SNV	Pathogenic	5419	rs119489103	11:45919710-45919710	11:45898159-45898159
28	NEUROD1	NM_002500.4(NEUROD1):c.332G>T (p.Arg111Leu)	SNV	Pathogenic	7853	rs104893649	2:182543256-182543256	2:181678529-181678529
29	KCNJ11	NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys)	SNV	Pathogenic/Likely pathogenic	8686	rs267607196	11:17408795-17408795	11:17387248-17387248
30	ABCC8	NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter)	SNV	Pathogenic/Likely pathogenic	188915	rs72559722	11:17434263-17434263	11:17412716-17412716
31	ABCC8	NM_001287174.2(ABCC8):c.4309C>T (p.Arg1437Ter)	SNV	Pathogenic/Likely pathogenic	35617	rs193922402	11:17417158-17417158	11:17395611-17395611
32	GCK	NM_000162.5(GCK):c.676G>A (p.Val226Met)	SNV	Pathogenic/Likely pathogenic	36243	rs148311934	7:44189362-44189362	7:44149763-44149763
33	ABCC8	NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg)	SNV	Pathogenic/Likely pathogenic	434045	rs72559715	11:17415926-17415926	11:17394379-17394379
34	HNF1A	NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala)	SNV	Pathogenic/Likely pathogenic	431970	rs754729248	12:121434371-121434371	12:120996568-120996568
35	WRN	NM_000553.5(WRN):c.724+1G>T	SNV	Likely pathogenic	523380	rs1339616347	8:30925844-30925844	8:31068328-31068328
36	RBPJ	NM_005349.3(RBPJ):c.193A>G (p.Arg65Gly)	SNV	Likely pathogenic	523586	rs1553878211	4:26407891-26407891	4:26406269-26406269
37	IRS1	NM_005544.2(IRS1):c.158G>A (p.Trp53Ter)	SNV	Likely pathogenic	804395		2:227663297-227663297	2:226798581-226798581
38	ABCC8	NM_001287174.2(ABCC8):c.290+2T>C	SNV	Likely pathogenic	552247	rs1554948310	11:17496431-17496431	11:17474884-17474884
39	RBPJL	NC_000020.10:g.43914005C>G	SNV	risk factor	444105	rs76474829	20:43914005-43914005	20:45285365-45285365
40	RBPJL	NM_014276.4(RBPJL):c.839C>T (p.Thr280Met)	SNV	risk factor	445144	rs200998587	20:43942756-43942756	20:45314116-45314116
41	GCK	NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	SNV	Likely pathogenic	36200	rs193922283	7:44184775-44184775	7:44145176-44145176
42	HMGA1	HMGA1, 1-BP INS, IVS5, -13	insertion	risk factor	30122
43	IL6	IL6, -174G-C	SNV	risk factor	14718
44	HNF1A	NM_000545.6(HNF1A):c.955G>A (p.Gly319Ser)	SNV	risk factor	14934	rs137853240	12:121432208-121432208	12:120994405-120994405
45	LIPC	NM_000236.2(LIPC):c.-293G>A	SNV	risk factor	14454	rs2070895	15:58723939-58723939	15:58431740-58431740
46	ENPP1	ENPP1, IVS20AS, 1-BP DEL, T, -11	deletion	risk factor	13584
47	PDX1	NM_000209.4(PDX1):c.176A>T (p.Gln59Leu)	SNV	risk factor	8860	rs137852784	13:28494451-28494451	13:27920314-27920314
48	PDX1	PDX1, 3-BP INS, 243CCG	insertion	risk factor	8861
49	PDX1	NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)	SNV	Likely pathogenic	8862	rs137852785	13:28494327-28494327	13:27920190-27920190
50	PDX1	NM_000209.4(PDX1):c.590G>A (p.Arg197His)	SNV	risk factor	8858	rs137852786	13:28498576-28498576	13:27924439-27924439

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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 27)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶³ Show member pathways ILK Signaling ⁶³ MAPK Signaling ⁶³ Molecular Mechanisms of Cancer ⁶³ Rho Family GTPases ⁶³	13.71	MAPK8IP1 IRS1 INSR IL6 HNF4A HNF1B
2	TGF-Beta Pathway ⁶³ Show member pathways JAK-STAT Pathway ⁶³ JNK Pathway ⁶³ MAPK Family Pathway ⁶³ Regulation of eIF4 and p70S6K ⁶³ SOCS Pathway ⁶³	13.42	MAPK8IP1 IRS1 INSR IL6 HNF4A HNF1B
3	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.36	SLC2A2 PAX4 NEUROD1 IRS1 HNF4A HNF1B
4	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	12.41	IRS1 INSR ENPP1 AKT2
5	Glucose / Energy Metabolism ⁴	12.41	WFS1 NEUROD1 IRS1 INSR HNF4A HNF1A
6	Prolactin Signaling Pathway ¹ ³⁶ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.36	SLC2A2 IRS1 GCK AKT2
7	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.34	HNF4A HNF1B HNF1A AKT2
8	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁶ AMPK Signaling Pathway ⁶⁶	12.31	IRS1 INSR HNF4A AKT2
9	WNT Signaling ⁶³	12.3	HNF4A HNF1B HNF1A AKT2
10	FoxO signaling pathway ³⁶ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	11.96	IRS1 INSR IL6 AKT2
11	Adipogenesis ¹	11.93	IRS1 IL6 HNF1A HMGA1
12	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.93	SLC2A2 PAX4 NEUROD1 IL6 HNF1B
13	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.89	SLC2A2 NEUROD1 INSR HNF4A HNF1B HNF1A
14	DNA Damage Response (only ATM dependent) ¹	11.87	IRS1 INSR AKT2
15	HIF-1 signaling pathway ³⁶	11.84	INSR IL6 AKT2
16	Glucagon signaling pathway ³⁶	11.82	SLC2A2 GCK AKT2
17	Insulin resistance ³⁶ Show member pathways protein O-[N-acetyl]-glucosylation ¹	11.81	SLC2A2 IRS1 INSR IL6 AKT2
18	Central carbon metabolism in cancer ³⁶	11.58	SLC2A2 GCK AKT2
19	Regulation of beta-cell development ⁶⁵ Show member pathways Maturity onset diabetes of the young ³⁶ Regulation of gene expression in beta cells ⁶⁵ Regulation of gene expression in early pancreatic precursor cells ⁶⁵ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁵ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁵	11.56	SLC2A2 PAX4 NEUROD1 HNF4A HNF1B HNF1A
20	Regulation of lipolysis in adipocytes ³⁶	11.46	IRS1 INSR AKT2
21	Development_Leptin signaling via PI3K-dependent pathway ²²	11.45	KCNJ11 IRS1 AKT2 ABCC8
22	Insulin Pathway ¹	11.35	IRS1 INSR AKT2
23	Type II diabetes mellitus ³⁶ ¹ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	11.3	SLC2A2 NEUROD1 KCNJ11 IRS1 INSR HNF4A
24	FOXA2 and FOXA3 transcription factor networks ¹	11.28	SLC2A2 KCNJ11 HNF4A HNF1A GCK ABCC8
25	Transcription factor regulation in adipogenesis ¹	11	IRS1 INSR IL6
26	Insulin signalling in human adipocytes (diabetic condition) ¹ Show member pathways Insulin signalling in human adipocytes (normal condition) ¹	10.84	IRS1 INSR AKT2
27	Dichloroethylene metabolism ²²	10.46	HNF4A HNF1A

Sources

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 24)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of apoptotic process	GO:0043066	10.02	PAX4 MAPK8IP1 IL6 HNF1B AKT2
2	positive regulation of transcription, DNA-templated	GO:0045893	9.98	NEUROD1 INSR IL6 HNF4A HNF1B HNF1A
3	response to drug	GO:0042493	9.92	PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
4	carbohydrate metabolic process	GO:0005975	9.9	SLC2A2 INSR GCK AKT2
5	insulin receptor signaling pathway	GO:0008286	9.78	IRS1 INSR AKT2
6	response to glucose	GO:0009749	9.76	NEUROD1 HNF4A HNF1B HNF1A
7	glucose metabolic process	GO:0006006	9.74	KCNJ11 GCK AKT2
8	positive regulation of glucose import	GO:0046326	9.71	IRS1 INSR CAPN10 AKT2
9	insulin secretion	GO:0030073	9.69	NEUROD1 HNF1B HNF1A
10	negative regulation of insulin secretion	GO:0046676	9.67	KCNJ11 IRS1 ABCC8
11	pancreas development	GO:0031016	9.67	WFS1 PAX4 HNF1B HNF1A
12	cellular response to insulin stimulus	GO:0032869	9.63	IRS1 INSR GCK ENPP1 CAPN10 AKT2
13	endocrine pancreas development	GO:0031018	9.62	PAX4 NEUROD1 IL6 HNF1A
14	hepatocyte differentiation	GO:0070365	9.61	HNF4A HNF1B
15	positive regulation of fatty acid beta-oxidation	GO:0032000	9.59	IRS1 AKT2
16	positive regulation of glucose metabolic process	GO:0010907	9.58	IRS1 AKT2
17	positive regulation of transcription initiation from RNA polymerase II promoter	GO:0060261	9.58	HNF1B HNF1A
18	regulation of cell cycle arrest	GO:0071156	9.56	NEUROD1 AKT2
19	positive regulation of glycogen biosynthetic process	GO:0045725	9.56	IRS1 INSR GCK AKT2
20	negative regulation of type B pancreatic cell apoptotic process	GO:2000675	9.55	WFS1 NEUROD1
21	positive regulation of type B pancreatic cell apoptotic process	GO:2000676	9.54	IL6 CAPN10
22	regulation of pronephros size	GO:0035565	9.48	HNF1B HNF1A
23	regulation of insulin secretion	GO:0050796	9.43	SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
24	glucose homeostasis	GO:0042593	9.17	WFS1 NEUROD1 IRS1 INSR HNF4A HNF1A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.43	PAX4 NEUROD1 HNF4A HNF1B HNF1A HMGA1
2	insulin-like growth factor receptor binding	GO:0005159	8.62	IRS1 INSR

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia