MCID: DBT042
MIFTS: 25

Diabetes, Permanent Neonatal malady

Summaries for Diabetes, Permanent Neonatal

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46OMIM, 32MalaCards
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MalaCards: Diabetes, Permanent Neonatal is related to beckwith-wiedemann syndrome and insulin resistance. An important gene associated with Diabetes, Permanent Neonatal is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11), and among its related pathways are Regulation of Insulin Secretion and Potassium Channels. The compounds minoxidil and cibenzoline have been mentioned in the context of this disorder.

Description from OMIM:46 606176

Aliases & Classifications for Diabetes, Permanent Neonatal

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46OMIM
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Aliases & Descriptions:

diabetes, permanent neonatal 46


Related Diseases for Diabetes, Permanent Neonatal

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Diabetes, Permanent Neonatal:



Diseases related to diabetes, permanent neonatal

Clinical Features for Diabetes, Permanent Neonatal

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46OMIM
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Clinical features from OMIM:

606176

Drugs & Therapeutics for Diabetes, Permanent Neonatal

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Diabetes, Permanent Neonatal

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Anatomical Context for Diabetes, Permanent Neonatal

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Animal Models for Diabetes, Permanent Neonatal or affiliated genes

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Publications for Diabetes, Permanent Neonatal

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Genetic Variations for Diabetes, Permanent Neonatal

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Diabetes, Permanent Neonatal:

62 (show all 41)
id Symbol AA change Variation ID SNP ID
1ABCC8p.Phe132LeuVAR_029778
2ABCC8p.Leu213ArgVAR_029779
3ABCC8p.Ile1424ValVAR_029787
4ABCC8p.Val86AlaVAR_031354
5INSp.Ala24AspVAR_063723rs80356663
6INSp.His29AspVAR_063724rs121908272
7INSp.Gly32ArgVAR_063725rs80356664
8INSp.Gly32SerVAR_063726rs80356664
9INSp.Leu35ProVAR_063727rs121908273
10INSp.Cys43GlyVAR_063728rs80356666
11INSp.Gly47ValVAR_063730rs80356667
12INSp.Phe48CysVAR_063731rs80356668
13INSp.Arg89CysVAR_063735rs80356669
14INSp.Gly90CysVAR_063736rs80356670
15INSp.Cys96SerVAR_063737rs80356671
16INSp.Cys96TyrVAR_063738rs80356671
17INSp.Ser101CysVAR_063739rs121908276
18INSp.Tyr103CysVAR_063740rs121908277
19INSp.Tyr108CysVAR_063741rs80356672
20KCNJ11p.Phe35LeuVAR_026498
21KCNJ11p.Phe35ValVAR_026499
22KCNJ11p.Arg50ProVAR_026500
23KCNJ11p.Gln52ArgVAR_026501
24KCNJ11p.Val59GlyVAR_026504
25KCNJ11p.Val59MetVAR_026505
26KCNJ11p.Lys170AsnVAR_026508
27KCNJ11p.Lys170ArgVAR_026509
28KCNJ11p.Arg201CysVAR_026511
29KCNJ11p.Arg201HisVAR_026512
30KCNJ11p.Ile296LeuVAR_026514
31KCNJ11p.Glu322LysVAR_026515
32KCNJ11p.Tyr330CysVAR_026516
33KCNJ11p.Phe333IleVAR_026517
34KCNJ11p.His46TyrVAR_031332
35KCNJ11p.Arg50GlnVAR_031333
36KCNJ11p.Gly53AspVAR_031334
37KCNJ11p.Leu164ProVAR_031341
38KCNJ11p.Cys166TyrVAR_031342
39KCNJ11p.Lys170ThrVAR_031343
40KCNJ11p.Arg201LeuVAR_031344
41KCNJ11p.Tyr330SerVAR_031348

Expression for genes affiliated with Diabetes, Permanent Neonatal

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Diabetes, Permanent Neonatal

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Pathways for genes affiliated with Diabetes, Permanent Neonatal

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53Reactome, 29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 12EMD Millipore
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Compounds for genes affiliated with Diabetes, Permanent Neonatal

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44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

(show all 21)
idCompoundScoreTop Affiliating Genes
1minoxidil44 28 1112.3ABCC8
2cibenzoline449.5ABCC8, KCNJ11
3nicorandil44 2810.5ABCC8, KCNJ11
4mgadp449.5KCNJ11, ABCC8
5cromakalim44 2810.5ABCC8, KCNJ11
6repaglinide44 49 1111.4KCNJ11, ABCC8
7glimepiride44 49 1111.4ABCC8, KCNJ11
8gliclazide44 49 1111.4ABCC8, KCNJ11
9Glyburide119.4KCNJ11, ABCC8
10sulfonylurea449.4ABCC8, KCNJ11
11katp449.4KCNJ11, ABCC8
12diazoxide44 59 28 1112.4ABCC8, KCNJ11
13tolbutamide44 49 28 1112.3ABCC8, KCNJ11
14glibenclamide44 28 49 5912.3KCNJ11, ABCC8
15metformin44 49 1111.3ABCC8, KCNJ11
16pip2449.2KCNJ11, ABCC8
17potassium44 11 2411.2ABCC8, KCNJ11
18lysine449.1ABCC8, KCNJ11
19magnesium44 11 2411.1ABCC8, KCNJ11
20leucine449.0KCNJ11, ABCC8
21aspartate448.8KCNJ11, ABCC8

GO Terms for genes affiliated with Diabetes, Permanent Neonatal

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16Gene Ontology
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Cellular components related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel complexGO:0080769.1ABCC8, KCNJ11

Biological processes related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:0718059.1ABCC8, KCNJ11
2synaptic transmissionGO:0072689.1ABCC8, KCNJ11
3regulation of insulin secretionGO:0507969.0ABCC8, KCNJ11
4energy reserve metabolic processGO:0061128.8ABCC8, KCNJ11

Molecular functions related to Diabetes, Permanent Neonatal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:0443259.1ABCC8, KCNJ11

Products for genes affiliated with Diabetes, Permanent Neonatal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes, Permanent Neonatal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet