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Diseases
Genes (155)
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FGFR2
Pfeiffer Syndrome
Acrocephalosyndactylia
ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
FGFR1
Pfeiffer Syndrome
MEGF8
Carpenter Syndrome 1
RAB23
Carpenter Syndrome 1
PQBP1
Renpenning's Syndrome
IFIH1
Singleton Merten Syndrome
TWIST1
Pfeiffer Syndrome
Acrocephalosyndactylia
SYCP3
Spermatogenesis Arrest
RB1
Pinealoblastoma
Trilateral Retinoblastoma
CST3
Cerebral Amyloid Angiopathy
DDX58
Singleton Merten Syndrome
KDM3B
Metal Toxicity
FH
Fumarase Deficiency
PTPN22
Giant Cell Arteritis
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
ITM2B
Cerebral Amyloid Angiopathy