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Diseases
Genes (440)
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ASL
Argininosuccinic Aciduria
PMM2
Pmm2 Deficiency
MYH9
Arterial Tortuosity Syndrome
Myh9-Related Disease
TTPA
Familial Isolated Vitamin E Deficiency
FKTN
Fukuyama Congenital Muscular Dystrophy
TNNI2
Sheldon-Hall Syndrome
SLC2A10
Hiatal Hernia
Arterial Tortuosity Syndrome
PQBP1
Renpenning's Syndrome
MYH3
Sheldon-Hall Syndrome
IFIH1
Singleton Merten Syndrome
TPM2
Sheldon-Hall Syndrome
TNNT3
Sheldon-Hall Syndrome
FKRP
Fukuyama Congenital Muscular Dystrophy
RB1
Pinealoblastoma
Trilateral Retinoblastoma
COMT
Tmj Disorders
DAG1
Fukuyama Congenital Muscular Dystrophy
COL1A1
Hiatal Hernia
Hernia
SPG29
Spastic Paraplegia 29, Autosomal Dominant
DDX58
Singleton Merten Syndrome
COL3A1
Hiatal Hernia
Hernia
Uterine Rupture