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. 2007 Jun 22;81(2):346–360. doi: 10.1086/519747

Table 4. .

The 40 Proteins Associated with the 20 Polygenic Diseases

Disease Name Proteins
Autosomal recessive osteopetrosis (OPTB1 [MIM 259700]) CLCN7_HUMAN and VPP3_HUMAN
Crohn disease (CD [MIM 266600]) CAR15_HUMAN and IL10_HUMAN
Dejerine-Sottas syndrome (DSS [MIM 145900]) MYP0_HUMAN and PMP22_HUMAN
Epidermolysis bullosa simplex Dowling-Meara type (DM-EBS [MIM 131760]) K1C14_HUMAN and K2C5_HUMAN
Epidermolysis bullosa simplex Koebner type (K-EBS [MIM 131900]) K1C14_HUMAN and K2C5_HUMAN
Fast-channel congenital myasthenic syndrome (FCCMS [MIM 608930]) ACHA_HUMAN, ACHD_HUMAN, and ACHE_HUMAN
Glanzmann thrombasthenia (GT [MIM 273800]) ITA2B_HUMAN and ITB3_HUMAN
Isolated growth hormone deficiency type IB (IGHD IB [MIM 262400]) GHRHR_HUMAN and SOMA_HUMAN
Juvenile polyposis syndrome (JPS [MIM 174900]) BMR1A_HUMAN and SMAD4_HUMAN
LS ATP6_HUMAN, DHSA_HUMAN, and SURF1_HUMAN
Leukoencephalopathy with vanishing white matter (VWM [MIM 603896]) EI2BA_HUMAN, EI2BB_HUMAN, EI2BD_HUMAN, and EI2BE_HUMAN
Li-Fraumeni syndrome (LFS [MIM 151623]) CD2A1_HUMAN and P53_HUMAN
Loeys-Dietz aortic aneurysm syndrome (LDAS [MIM 609192]) TGFR1_HUMAN and TGFR2_HUMAN
Lung cancer (MIM 211980) BRAF1_HUMAN and EGFR_HUMAN
OI-II CO1A1_HUMAN and CO1A2_HUMAN
OI-IV CO1A1_HUMAN and CO1A2_HUMAN
Pachyonychia congenita type 1 (PC1 [MIM 167200]) K1C16_HUMAN and K2C6A_HUMAN
Pachyonychia congenita type 2 (PC2 [MIM 167210]) K1C17_HUMAN and K2C6B_HUMAN
Sitosterolemia (MIM 210250) ABCG5_HUMAN and ABCG8_HUMAN
Tuberous sclerosis complex (TSC [MIM 191100]) TSC1_HUMAN and TSC2_HUMAN