MCID: DBT044
MIFTS: 15

Diabetes Mellitus, Transient Neonatal, 3 malady

Genetic diseases, Rare diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Diabetes Mellitus, Transient Neonatal, 3

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Aliases & Descriptions for Diabetes Mellitus, Transient Neonatal, 3:

Name: Diabetes Mellitus, Transient Neonatal, 3 46 9 22


Classifications:



External Ids:

OMIM46 610582

Summaries for Diabetes Mellitus, Transient Neonatal, 3

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MalaCards based summary: Diabetes Mellitus, Transient Neonatal, 3 and has symptoms including autosomal dominant inheritanceand transient neonatal diabetes mellitus. An important gene associated with Diabetes Mellitus, Transient Neonatal, 3 is KCNJ11 (potassium inwardly-rectifying channel, subfamily J, member 11).

Description from OMIM:46 610582

Related Diseases for Diabetes Mellitus, Transient Neonatal, 3

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Symptoms for Diabetes Mellitus, Transient Neonatal, 3

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Clinical features from OMIM:

610582

HPO human phenotypes related to Diabetes Mellitus, Transient Neonatal, 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 transient neonatal diabetes mellitus HP:0008255

Drugs & Therapeutics for Diabetes Mellitus, Transient Neonatal, 3

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Drug clinical trials:

Search ClinicalTrials for Diabetes Mellitus, Transient Neonatal, 3

Search NIH Clinical Center for Diabetes Mellitus, Transient Neonatal, 3

Genetic Tests for Diabetes Mellitus, Transient Neonatal, 3

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Genetic tests related to Diabetes Mellitus, Transient Neonatal, 3:

id Genetic test Affiliating Genes
1 Transient Neonatal Diabetes Mellitus 322

Anatomical Context for Diabetes Mellitus, Transient Neonatal, 3

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Animal Models for Diabetes Mellitus, Transient Neonatal, 3 or affiliated genes

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Publications for Diabetes Mellitus, Transient Neonatal, 3

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Variations for Diabetes Mellitus, Transient Neonatal, 3

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UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 3:

63
id Symbol AA change Variation ID SNP ID
1KCNJ11p.Gly53ArgVAR_026502
2KCNJ11p.Gly53SerVAR_026503
3KCNJ11p.Ile182ValVAR_026510
4KCNJ11p.Cys42ArgVAR_031331

Clinvar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KCNJ11NM_000525.3(KCNJ11): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs80356624GRCh37Chr 11, 17409037: 17409037
2KCNJ11NM_000525.3(KCNJ11): c.124T> C (p.Cys42Arg)single nucleotide variantPathogenicrs80356610GRCh37Chr 11, 17409515: 17409515
3KCNJ11NM_000525.3(KCNJ11): c.157G> A (p.Gly53Ser)single nucleotide variantPathogenicrs80356613GRCh37Chr 11, 17409482: 17409482
4KCNJ11NM_000525.3(KCNJ11): c.157G> C (p.Gly53Arg)single nucleotide variantPathogenicrs80356613GRCh37Chr 11, 17409482: 17409482

Expression for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Search GEO for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 3.

Pathways for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Compounds for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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GO Terms for genes affiliated with Diabetes Mellitus, Transient Neonatal, 3

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Sources for Diabetes Mellitus, Transient Neonatal, 3

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet