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Diseases
Genes (186)
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ASL
Argininosuccinic Aciduria
TTPA
Familial Isolated Vitamin E Deficiency
PMM2
Pmm2 Deficiency
PQBP1
Renpenning's Syndrome
FAM20A
Enamel-Renal Syndrome
IFIH1
Singleton Merten Syndrome
ASS1
Argininosuccinic Aciduria
Citrullinemia Type I
RB1
Pinealoblastoma
Trilateral Retinoblastoma
CST3
Cerebral Amyloid Angiopathy
DDX58
Singleton Merten Syndrome
KDM3B
Metal Toxicity
SOST
Craniodiaphyseal Dysplasia
FH
Fumarase Deficiency
APOB
Familial Isolated Vitamin E Deficiency
APOA1
Familial Isolated Vitamin E Deficiency
FLNA
Intestinal Neuronal Dysplasia
CYP17A1
Hyperkalemia
INS
Hyperkalemia
ITM2B
Cerebral Amyloid Angiopathy
NDP
Vascular Tumor
Uterine Rupture