LE WE PMID CA
Bererdinelli Seip congenital lipodystrophy13015Berardinelli Seip congenital lipodystrophy

47XYY snydome

ABCC8 SUR1

Amelogenesis imperfecta and nephrocalcinosis enamel renal syndrome

Anemia (megaloblastic thiamine responsive)

Arthrogryposis multiplex congenita

Barakat s syndrome

Barraquer Simons syndrome

Bererdinelli Seip congenital lipodystrophy

BSCL1 AGPAT2

BSCL2 Seipin

Cardio vertebro renal syndrome

Carnitine deficiency myopathy

Cateye syndrome

Cerebro oculo facio skeletal syndrome

Coloboma of macula with type b brachydactyly

CTNS

Deletion 11p syndrome

Deletion 18q syndrome

Deletion 9p syndrome

Diabetes mellitus (Hereditary MODY)

Diabetes mellitus (hereditary)

Diabetes mellitus (neonatal)

Donohue s syndrome Leprechaunism

Dubowitz syndrome

Duplication 10q syndrome

Duplication 20p syndrome

Duplication 4p syndrome

Dyssegmental dwarfism

EIF2AK3 PERK

Facio cardio renal syndrome

Fatty metamorphosis of the viscera

Femoral facial syndrome

FRDA1 Frataxin

Friedreich ataxia

Ganglioside GM1 beta Galactosidase

Gangliosidosis GM1 Landing s disease

Glucokinase

GLUD1

Goltz focal dermal hypoplasia

Hereditary osteolysis hereditary of carpal bones with nephropathy

Insulin resistance type a

Jebert Hayward oro cranio digital syndrome

KCNJ11 Kir6 2

Lawrence s syndrome

Leukonychia totalis

Lipodystrophy

N syndrome

Naurnoff s polydactyly with hereditary chondrodystrophy type iii

Neu Laxova syndrome

OMIM_601487

OMIM_x600937

Pena Shokeir syndrome

Persistent hyperinsulinemic hypoglycemia of infancy

Persistent neonatal hypoglycemia

Pulmonary stenosis with congenital nephrosis

Rabson Mendenhall s syndrome

Receptor (Insulin)

Receptor (PPAR gamma)

SLC19A2 THTR1

Testicular regression xy gonadal agenesis

Thallassemia B

Thyrotoxicosis renal disease absent frontal sinuses

TNDM29locus

Trimethadione

Trisomy8

Werner s syndrome

Wfs1 Wolframin

Wfs2

Wohltmann Caglar Syndrome

Wolcott Rallison syndrome

Wolfram s syndrome DIDMOAD

WRN

2005  
1
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)
2011  
2
Trafficking and proteolytic processing of RNF13, a model PA-TM-RING family endosomal membrane ubiquitin ligase.
[21078126] FEBS J 278(1): 69-77 (2011)

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