LE WE PMID CA
BSCL2 Seipin11763BSCL2 Seipin

ABCC8 SUR1

Anemia (megaloblastic thiamine responsive)

ATP7A

Bererdinelli Seip congenital lipodystrophy

BSCL1 AGPAT2

BSCL2 Seipin

DCTN1

Diabetes mellitus (Hereditary MODY)

Diabetes mellitus (hereditary)

Diabetes mellitus (neonatal)

Donohue s syndrome Leprechaunism

DYNC1H1

EIF2AK3 PERK

FRDA1 Frataxin

Friedreich ataxia

GARS

Glucokinase

GLUD1

HSPB1

HSPB3

HspB8

IGHMBP2

Insulin resistance type a

KCNJ11 Kir6 2

Lipodystrophy

Nervous system (Inherited diseases)

OMIM_601487

OMIM_x600937

Persistent hyperinsulinemic hypoglycemia of infancy

Persistent neonatal hypoglycemia

PLEKHG5

Rabson Mendenhall s syndrome

Receptor (Insulin)

Receptor (PPAR gamma)

SETX

SLC19A2 THTR1

TNDM29locus

TRPV4

Werner s syndrome

Wfs1 Wolframin

Wfs2

Wolcott Rallison syndrome

Wolfram s syndrome DIDMOAD

WRN

2011  
1
Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.
[21902652] Curr Mol Med 11(8): 650-65 (2011)
2012  
2
The distal hereditary motor neuropathies.
[22028385] J Neurol Neurosurg Psychiatry 83(1): 6-14 (2012)
2005  
3
Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.
[15772126] J Med Genet 42(12): 893-902 (2005)

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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.



  • BSCL2 Seipin

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