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

MCID: RRD013 MIFTS: 31	Rare Diabetes Mellitus Type 2 Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare 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 ⁵⁸

Rare Insulin-Independent Diabetes Mellitus ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Endocrine 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 rare genetic diabetes mellitus and type 1 diabetes mellitus 11. 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. Related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Rare Diabetes Mellitus Type 2

Diseases in the Diabetes Mellitus family:

Diabetes Mellitus, Type I	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 top 50) (show all 55)

#	Related Disease	Score	Top Affiliating Genes
1	rare genetic diabetes mellitus	10.4	HNF1A GCK
2	type 1 diabetes mellitus 11	10.3	NEUROD1 HNF1A
3	acute insulin response	10.3	KCNJ11 ABCC8
4	munchausen by proxy	10.2	KCNJ11 GCK ABCC8
5	hyperinsulinemic hypoglycemia, familial, 7	10.2	KCNJ11 GCK ABCC8
6	hyperinsulinemic hypoglycemia, familial, 6	10.2	GCK ABCC8
7	donohue syndrome	10.2	IRS1 INSR GCK
8	hyperinsulinemic hypoglycemia, familial, 2	10.1	KCNJ11 HNF4A ABCC8
9	diabetes mellitus, permanent neonatal 1	10.1	KCNJ11 GCK ABCC8
10	diabetes mellitus, ketosis-prone	10.1	PAX4 KCNJ11 ABCC8
11	insulin-like growth factor i	10.1	IRS1 INSR AKT2
12	fructose-1,6-bisphosphatase deficiency	10.1	GCK ABCC8
13	cardiomyopathy, dilated, 1o	10.1	SLC2A2 KCNJ11 ABCC8
14	maturity-onset diabetes of the young, type 14	10.1	PAX4 NEUROD1 GCK
15	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	10.1	WFS1 KCNJ11 ABCC8
16	fanconi-bickel syndrome	10.0	SLC2A2 ABCC8
17	asphyxia neonatorum	10.0	KCNJ11 IL6 ABCC8
18	cervical incompetence	10.0	MAPK8IP1 IL6
19	hepatic adenomas, familial	9.9	HNF4A HNF1A
20	pancreatic cystadenoma	9.9	SLC2A2 NEUROD1 GCK ABCC8
21	maturity-onset diabetes of the young, type 11	9.9	PAX4 NEUROD1 KCNJ11 ABCC8
22	maturity-onset diabetes of the young, type 10	9.9	PAX4 NEUROD1 KCNJ11 ABCC8
23	pancreatic agenesis	9.8	NEUROD1 KCNJ11 HNF1B GCK ABCC8
24	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	9.8	IL6 HNF4A HNF1A GCK
25	non-alcoholic steatohepatitis	9.8	IRS1 IL6 HNF4A
26	hyperinsulinemic hypoglycemia	9.8	KCNJ11 INSR HNF4A HNF1A GCK ABCC8
27	diabetes mellitus, permanent neonatal 4	9.7	SLC2A2 NEUROD1 KCNJ11 GCK ABCC8
28	lipid metabolism disorder	9.7	IRS1 INSR IL6 HNF4A
29	transient neonatal diabetes mellitus	9.7	SLC2A2 NEUROD1 KCNJ11 GCK ABCC8
30	hyperinsulinism	9.7	KCNJ11 IRS1 INSR HNF4A GCK ABCC8
31	hypoglycemia	9.6	SLC2A2 KCNJ11 INSR GCK AKT2 ABCC8
32	wolfram syndrome 1	9.6	WFS1 KCNJ11 IGF2BP2
33	wolfram syndrome	9.6	WFS1 KCNJ11 IGF2BP2
34	glucose metabolism disease	9.5	SLC2A2 KCNJ11 IRS1 IL6 GCK
35	maturity-onset diabetes of the young, type 13	9.5	PAX4 NEUROD1 KCNJ11 HNF4A HNF1A GCK
36	monogenic diabetes	9.5	WFS1 KCNJ11 HNF4A HNF1B HNF1A GCK
37	maturity-onset diabetes of the young, type 9	9.4	PAX4 NEUROD1 KCNJ11 HNF4A HNF1B GCK
38	maturity-onset diabetes of the young, type 7	9.4	PAX4 NEUROD1 KCNJ11 HNF4A HNF1B GCK
39	maturity-onset diabetes of the young, type 8, with exocrine dysfunction	9.3	PAX4 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
40	maturity-onset diabetes of the young, type 6	9.3	PAX4 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
41	renal cysts and diabetes syndrome	9.3	PAX4 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
42	insulinoma	9.3	WFS1 SLC2A2 PAX4 NEUROD1 HNF1A GCK
43	maturity-onset diabetes of the young, type 1	9.0	SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
44	maturity-onset diabetes of the young, type 4	9.0	SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
45	maturity-onset diabetes of the young, type 3	9.0	SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
46	neonatal diabetes mellitus	8.7	WFS1 SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A
47	maturity-onset diabetes of the young, type 2	8.7	WFS1 SLC2A2 PAX4 NEUROD1 KCNJ11 HNF4A
48	diabetes mellitus, type i	8.6	WFS1 SLC2A2 PAX4 NEUROD1 INSR IL6
49	hyperglycemia	8.6	SLC2A2 PAX4 KCNJ11 IRS1 INSR IL6
50	glucose intolerance	8.6	KCNJ11 IRS1 INSR IL6 HNF1A GCK

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 (show all 12)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00106-A-0	9.88	GPD2 SLC2A2
2	Decreased viability	GR00173-A	9.88	MAPK8IP1
3	Decreased viability	GR00221-A-1	9.88	AKT2 GCK INSR IRS1
4	Decreased viability	GR00221-A-2	9.88	GCK INSR IRS1
5	Decreased viability	GR00221-A-3	9.88	AKT2 GCK INSR
6	Decreased viability	GR00221-A-4	9.88	AKT2 GCK INSR MAPK8IP1
7	Decreased viability	GR00249-S	9.88	ENPP1 HMGA1 HNF1B
8	Decreased viability	GR00301-A	9.88	AKT2 MAPK8IP1
9	Decreased viability	GR00342-S-2	9.88	IRS1
10	Decreased viability	GR00342-S-3	9.88	AKT2 IRS1 MAPK8IP1
11	Decreased viability	GR00386-A-1	9.88	HNF1B HNF4A IRS1 MAPK8IP1 PAX4 SLC2A2
12	Decreased viability	GR00402-S-2	9.88	CAPN10 ENPP1 MAPK8IP1 SLC2A2

MGI Mouse Phenotypes related to Rare Diabetes Mellitus Type 2:

⁴⁵ (show all 11)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.35	AKT2 CAPN10 ENPP1 GCK GPD2 HMGA1
2	endocrine/exocrine gland	MP:0005379	10.33	ABCC8 AKT2 CAPN10 GCK GPD2 HMGA1
3	behavior/neurological	MP:0005386	10.32	CAPN10 ENPP1 GPD2 HNF1A HNF4A IGF2BP2
4	homeostasis/metabolism	MP:0005376	10.32	ABCC8 AKT2 CAPN10 ENPP1 GCK GPD2
5	cellular	MP:0005384	10.21	AKT2 ENPP1 GCK HNF1A HNF1B HNF4A
6	adipose tissue	MP:0005375	10.19	AKT2 CAPN10 ENPP1 GPD2 HNF1A IGF2BP2
7	cardiovascular system	MP:0005385	10.16	CAPN10 ENPP1 GCK HMGA1 HNF4A IL6
8	mortality/aging	MP:0010768	10.11	AKT2 ENPP1 GCK GPD2 HMGA1 HNF1A
9	liver/biliary system	MP:0005370	10.1	AKT2 CAPN10 ENPP1 GCK GPD2 HNF1A
10	muscle	MP:0005369	9.61	AKT2 ENPP1 HNF1A HNF1B IL6 INSR
11	renal/urinary system	MP:0005367	9.28	CAPN10 ENPP1 GCK HNF1A HNF1B HNF4A

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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 (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 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	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/Likely pathogenic ⁶ 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 172) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PPARG	NM_005037.5(PPARG):c.-2-29900A>G	SNV	association	440735	rs1553638903	3:12391303-12391303	3:12349804-12349804
2	PPARG	NM_005037.5(PPARG):c.-2-29880A>T	SNV	association	440734	rs1553638909	3:12391323-12391323	3:12349824-12349824
3	PPARG	NM_005037.5(PPARG):c.-2-28918A>C	SNV	association	440733	rs948820149	3:12392285-12392285	3:12350786-12350786
4	SLC2A2	NM_000340.2(SLC2A2):c.1331G>A (p.Trp444Ter)	SNV	Affects	444009	rs1553784995	3:170716025-170716025	3:170998236-170998236
5	SLC30A8	NM_001172813.2(SLC30A8):c.265C>T (p.Arg89Ter)	SNV	protective	141421	rs200185429	8:118165323-118165323	8:117153084-117153084
6	SLC30A8	NM_001172813.2(SLC30A8):c.-47_-41del	deletion	protective	141422	rs587777582	8:118159221-118159227	8:117146982-117146988
7	HNF4A	NM_175914.4(HNF4A):c.187C>T (p.Arg63Trp)	SNV	Pathogenic	156152	rs587777732	20:43034835-43034835	20:44406195-44406195
8	GCK	NM_000162.5(GCK):c.544G>A (p.Val182Met)	SNV	Pathogenic	129144	rs587780345	7:44189603-44189603	7:44150004-44150004
9	PAX4	NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)	SNV	Pathogenic	13790	rs114202595	7:127254587-127254587	7:127614533-127614533
10	AKT2	NM_001626.6(AKT2):c.821G>A (p.Arg274His)	SNV	Pathogenic	13982	rs121434593	19:40743886-40743886	19:40237979-40237979
11	INSR	NM_000208.4(INSR):c.3572G>A (p.Arg1191Gln)	SNV	Pathogenic	14700	rs121913150	19:7120718-7120718	19:7120707-7120707
12	GPD2	NM_000408.5(GPD2):c.1904T>C (p.Phe635Ser)	SNV	Pathogenic	16081	rs121918407	2:157435621-157435621	2:156579109-156579109
13	IRS1	NM_005544.2(IRS1):c.2164_2166GGT[1] (p.Gly723del)	short repeat	Pathogenic	29760	rs1259467443	2:227661286-227661288	2:226796570-226796572
14	IRS1	NM_005544.2(IRS1):c.1823C>G (p.Thr608Arg)	SNV	Pathogenic	29762	rs104893642	2:227661632-227661632	2:226796916-226796916
15	HNF1A	NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)	SNV	Pathogenic	14928	rs137853236	12:121435307-121435307	12:120997504-120997504
16	MAPK8IP1	NM_005456.4(MAPK8IP1):c.176G>A (p.Ser59Asn)	SNV	Pathogenic	5419	rs119489103	11:45919710-45919710	11:45898159-45898159
17	NEUROD1	NM_002500.4(NEUROD1):c.332G>T (p.Arg111Leu)	SNV	Pathogenic	7853	rs104893649	2:182543256-182543256	2:181678529-181678529
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_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)	SNV	Pathogenic	9105	rs137852673	11:17417462-17417462	11:17395915-17395915
20	ABCC8	NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val)	SNV	Pathogenic	9106	rs137852674	11:17452434-17452434	11:17430887-17430887
21	GCK	NM_000162.5(GCK):c.667G>A (p.Gly223Ser)	SNV	Pathogenic	435306	rs1360415315	7:44189371-44189371	7:44149772-44149772
22	SLC2A2	NM_000340.2(SLC2A2):c.963+1G>A	SNV	Pathogenic	444008	rs371977235	3:170723073-170723073	3:171005284-171005284
23	HNF1A	NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys)	SNV	Pathogenic	447503	rs1555212014	12:121432067-121432067	12:120994264-120994264
24	KCNJ11	NM_000525.3(KCNJ11):c.967dup (p.Asp323fs)	duplication	Pathogenic	478917	rs1554901596	11:17408671-17408672	11:17387124-17387125
25	ABCC8	NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	SNV	Pathogenic	495834	rs72559734	11:17496502-17496502	11:17474955-17474955
26	WFS1	NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter)	SNV	Pathogenic	523067	rs1553876668	4:6290728-6290728	4:6289001-6289001
27	HNF1B	NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)	SNV	Pathogenic	635724		17:36104644-36104644	17:37744653-37744653
28	GCK	NM_000162.5(GCK):c.766G>A (p.Glu256Lys)	SNV	Pathogenic	265175	rs769268803	7:44187346-44187346	7:44147747-44147747
29	ABCC8	NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	SNV	Pathogenic/Likely pathogenic	434045	rs72559715	11:17415926-17415926	11:17394379-17394379
30	KCNJ11	NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys)	SNV	Pathogenic/Likely pathogenic	8686	rs267607196	11:17408795-17408795	11:17387248-17387248
31	ABCC8	NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	SNV	Pathogenic/Likely pathogenic	35617	rs193922402	11:17417158-17417158	11:17395611-17395611
32	ABCC8	NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	SNV	Pathogenic/Likely pathogenic	188915	rs72559722	11:17434263-17434263	11:17412716-17412716
33	GCK	NM_000162.5(GCK):c.676G>A (p.Val226Met)	SNV	Pathogenic/Likely pathogenic	36243	rs148311934	7:44189362-44189362	7:44149763-44149763
34	IL6	IL6, -174G-C	SNV	risk factor	14718
35	GCK	NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)	SNV	Likely pathogenic	36200	rs193922283	7:44184775-44184775	7:44145176-44145176
36	HNF1A	NM_000545.6(HNF1A):c.955G>A (p.Gly319Ser)	SNV	risk factor	14934	rs137853240	12:121432208-121432208	12:120994405-120994405
37	HMGA1	HMGA1, 1-BP INS, IVS5, -13	insertion	risk factor	30122
38	LIPC	NM_000236.2(LIPC):c.-293G>A	SNV	risk factor	14454	rs2070895	15:58723939-58723939	15:58431740-58431740
39	PDX1	NM_000209.4(PDX1):c.590G>A (p.Arg197His)	SNV	risk factor	8858	rs137852786	13:28498576-28498576	13:27924439-27924439
40	PDX1	NM_000209.4(PDX1):c.176A>T (p.Gln59Leu)	SNV	risk factor	8860	rs137852784	13:28494451-28494451	13:27920314-27920314
41	PDX1	PDX1, 3-BP INS, 243CCG	insertion	risk factor	8861
42	PDX1	NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)	SNV	Likely pathogenic	8862	rs137852785	13:28494327-28494327	13:27920190-27920190
43	ABCC8 , KCNJ11	NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu)	SNV	drug response	8678	rs5219	11:17409572-17409572	11:17388025-17388025
44	HNF1A	NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser)	SNV	Likely pathogenic	915441		12:121416614-121416614	12:120978811-120978811
45	ENPP1	ENPP1, IVS20AS, 1-BP DEL, T, -11	deletion	risk factor	13584
46	TCF7L2	NM_001146274.2(TCF7L2):c.450+33966C>T	SNV	drug response	7413	rs7903146	10:114758349-114758349	10:112998590-112998590
47	TCF7L2	NM_001146274.2(TCF7L2):c.552+9017G>T	SNV	risk factor	7414	rs12255372	10:114808902-114808902	10:113049143-113049143
48	TCF7L2	NM_001146274.2(TCF7L2):c.552+7162G>C	SNV	risk factor	7415	rs11196205	10:114807047-114807047	10:113047288-113047288
49	IGF2BP2	NM_006548.6(IGF2BP2):c.239+29254C>A	SNV	risk factor	2435	rs4402960	3:185511687-185511687	3:185793899-185793899
50	RETN	RETN, +62G-A	SNV	risk factor	4884

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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 28)

#	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	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁶ AMPK Signaling Pathway ⁶⁶	12.37	IRS1 INSR HNF4A AKT2
7	Prolactin Signaling Pathway ³⁶ ¹ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	12.36	SLC2A2 IRS1 GCK AKT2
8	Human Embryonic Stem Cell Pluripotency ⁶³ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶³	12.34	HNF4A HNF1B HNF1A AKT2
9	WNT Signaling ⁶³	12.3	HNF4A HNF1B HNF1A AKT2
10	MAPK Signaling: Mitogens ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	12.12	MAPK8IP1 IRS1 INSR AKT2
11	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
12	Adipogenesis ¹	11.93	IRS1 IL6 HNF1A HMGA1
13	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁴	11.93	SLC2A2 PAX4 NEUROD1 IL6 HNF1B
14	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.89	SLC2A2 NEUROD1 INSR HNF4A HNF1B HNF1A
15	DNA Damage Response (only ATM dependent) ¹	11.87	IRS1 INSR AKT2
16	HIF-1 signaling pathway ³⁶	11.84	INSR IL6 AKT2
17	Glucagon signaling pathway ³⁶	11.82	SLC2A2 GCK AKT2
18	Insulin resistance ³⁶ Show member pathways protein O-[N-acetyl]-glucosylation ¹	11.81	SLC2A2 IRS1 INSR IL6 AKT2
19	Central carbon metabolism in cancer ³⁶	11.59	SLC2A2 GCK AKT2
20	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
21	Regulation of lipolysis in adipocytes ³⁶	11.47	IRS1 INSR AKT2
22	Development_Leptin signaling via PI3K-dependent pathway ²²	11.45	KCNJ11 IRS1 AKT2 ABCC8
23	Insulin Pathway ¹	11.35	IRS1 INSR AKT2
24	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
25	FOXA2 and FOXA3 transcription factor networks ¹	11.28	SLC2A2 KCNJ11 HNF4A HNF1A GCK ABCC8
26	Transcription factor regulation in adipogenesis ¹	11	IRS1 INSR IL6
27	Insulin signalling in human adipocytes (normal condition) ¹ Show member pathways Insulin signalling in human adipocytes (diabetic condition) ¹	10.84	IRS1 INSR AKT2
28	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 25)

#	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	10	NEUROD1 INSR IL6 HNF4A HNF1B HNF1A
3	response to drug	GO:0042493	9.93	PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
4	carbohydrate metabolic process	GO:0005975	9.88	SLC2A2 INSR GCK AKT2
5	insulin receptor signaling pathway	GO:0008286	9.78	IRS1 INSR AKT2
6	glucose metabolic process	GO:0006006	9.74	KCNJ11 GCK AKT2
7	response to glucose	GO:0009749	9.73	NEUROD1 HNF4A HNF1B HNF1A
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	positive regulation of transcription initiation from RNA polymerase II promoter	GO:0060261	9.62	HNF1B HNF1A
14	endocrine pancreas development	GO:0031018	9.62	PAX4 NEUROD1 IL6 HNF1A
15	hepatocyte differentiation	GO:0070365	9.61	HNF4A HNF1B
16	positive regulation of fatty acid beta-oxidation	GO:0032000	9.6	IRS1 AKT2
17	positive regulation of glucose metabolic process	GO:0010907	9.59	IRS1 AKT2
18	inorganic cation transmembrane transport	GO:0098662	9.58	KCNJ11 ABCC8
19	regulation of cell cycle arrest	GO:0071156	9.56	NEUROD1 AKT2
20	positive regulation of glycogen biosynthetic process	GO:0045725	9.56	IRS1 INSR GCK AKT2
21	negative regulation of type B pancreatic cell apoptotic process	GO:2000675	9.55	WFS1 NEUROD1
22	positive regulation of type B pancreatic cell apoptotic process	GO:2000676	9.52	IL6 CAPN10
23	regulation of pronephros size	GO:0035565	9.48	HNF1B HNF1A
24	regulation of insulin secretion	GO:0050796	9.43	SLC2A2 NEUROD1 KCNJ11 HNF4A GCK ABCC8
25	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	cation-transporting ATPase activity	GO:0019829	9.16	KCNJ11 ABCC8
2	insulin-like growth factor receptor binding	GO:0005159	8.96	IRS1 INSR
3	ATP-activated inward rectifier potassium channel activity	GO:0015272	8.62	KCNJ11 ABCC8

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