MCID: DBT043
MIFTS: 10

Diabetes Mellitus, Permanent Neonatal, with Neurologic Features malady

Neuronal diseases category

Summaries for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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46OMIM, 32MalaCards
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MalaCards: Diabetes Mellitus, Permanent Neonatal, with Neurologic Features An important gene associated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11).

Description from OMIM:46 606176

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

diabetes mellitus, permanent neonatal, with neurologic features 46


Related Diseases for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Clinical Features for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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46OMIM
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Clinical features from OMIM:

606176

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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

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Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

Search NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Genetic Tests for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Anatomical Context for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Animal Models for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features or affiliated genes

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Publications for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Genetic Variations for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features:

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 Mellitus, Permanent Neonatal, with Neurologic Features

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15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features.

Pathways for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Compounds for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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GO Terms for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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Products for genes affiliated with Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Diabetes Mellitus, Permanent Neonatal, with Neurologic Features

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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