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 |