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ALAD
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Porphyria Due To Ala Dehydratase Deficiency
- Acute Intermittent Porphyria
- Tyrosinemia Type I
- Porphyria
- Acute Hepatic Porphyria
HMBS
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Variegate Porphyria
- Acute Intermittent Porphyria
- Porphyria
- Acute Hepatic Porphyria
CPOX
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Variegate Porphyria
- Hereditary Coproporphyria
- Acute Intermittent Porphyria
- Porphyria
- Acute Hepatic Porphyria
PPOX
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Variegate Porphyria
- Hereditary Coproporphyria
- Acute Intermittent Porphyria
- Porphyria
- Acute Hepatic Porphyria
UBR1
- Johanson-Blizzard Syndrome
RPS6KA3
- Coffin-Lowry Syndrome
PMM2
- Pmm2 Deficiency
FAH
- Tyrosinemia Type I
- Seckel Syndrome 4
ASL
- Argininosuccinic Aciduria
ATR
- Gurrieri Syndrome
- Seckel Syndrome 4
SLC17A5
- Salla Disease
ESCO2
- Sc Phocomelia Syndrome
BAAT
- Hypercholanemia, Familial
TJP2
- Hypercholanemia, Familial
CENPJ
- Seckel Syndrome 4
TMCO1
- Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
EPHX1
- Hypercholanemia, Familial
CLPX
- Protoporphyria, Erythropoietic, 2
ALAS1
- Variegate Porphyria
- Hereditary Coproporphyria
- Acute Intermittent Porphyria
- Porphyria
ALX4
- Frontonasal Dysplasia 2