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Table 3 GSIS genes with disease associations

From: Protein coalitions in a core mammalian biochemical network linked by rapidly evolving proteins

Gene

OMIM Code

Disease

GCK

125851

MODY, type II,

 

125853

Insulin resistance, susceptibility to,

 

602485

Hyperinsulinemic hypoglycemia, familial, 3

 

606176

Diabetes, permanent neonatal

FBa

229600

Fructose intolerance

FBc

611881

Glycogen storage disease XII

PGP2

261670

Glycogen storage disease X

PK

102900

Adenosine triphosphate, elevated, of erythrocytes

 

266200

Pyruvate kinase deficiency

PDCa

308930

Leigh syndrome, X-linked

 

312170

Pyruvate dehydrogenase deficiency

PDCb

312170

Pyruvate dehydrogenase deficiency

OGDC

203740

Alpha-ketoglutarate dehydrogenase deficiency

SCSa

245400

Lactic acidosis, fatal infantile

SDHa

115310

Paraganglioma, familial chromaffin, 4

 

171300

Pheochromocytoma, modifier of

 

606864

Paraganglioma and gastric stromal sarcoma

 

612359

Cowden-like syndrome

SDHb

252011

Mitochondrial respiratory chain complex II deficiency

 

256000

Leigh syndrome, due to Cox deficiency

FM

150800

Multiple cutaneous and uterine leiomyomata

 

605839

Leiomyomatosis and renal cell cancer

 

606812

Fumarase deficiency

MT-ND1

252010

Mitochondrial complex I deficiency

MT-ND2

256000

Leigh syndrome, due to Cox deficiency

UQCRQ

124000

Mitochondrial complex III deficiency

Cox6B1

220110

Mitochondrial complex IV deficiency

Cox2

220110

Mitochondrial complex IV deficiency

Cox1

220110

Mitochondrial complex IV deficiency

GUT2P

125853

Insulin resistance, susceptibility to

IDHcc

137800

Glioblastoma, susceptibility to

PC

266150

Pyruvate carboxylase deficiency

ETF-QO

231680

Glutaricaciduria, type IIC

SOD2c

105400

Amyotrophic lateral sclerosis, susceptibility to

SOD2 m

612634

Microvascular complications of diabetes, susceptibility to