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HMBS
- Porphyria, Acute Intermittent
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Variegate Porphyria
- Porphyria
CPOX
- Porphyria, Acute Intermittent
- Hereditary Coproporphyria
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Variegate Porphyria
- Porphyria
UBR1
- Johanson-Blizzard Syndrome
FRAS1
- Fraser Syndrome 2
PPOX
- Porphyria, Acute Intermittent
- Hereditary Coproporphyria
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Variegate Porphyria
- Porphyria
ALAD
- Porphyria, Acute Intermittent
- Porphyria Due To Ala Dehydratase Deficiency
- Aminolevulinic Acid Dehydratase Deficiency Porphyria
- Porphyria
FREM2
- Fraser Syndrome 2
ESCO2
- Sc Phocomelia Syndrome
PLEC
- Epidermolysis Bullosa Simplex With Pyloric Atresia
ARX
- Lissencephaly, X-Linked, 2
MED12
- Ohdo Syndrome, X-Linked
MGP
- Keutel Syndrome
GRIP1
- Fraser Syndrome 2
ALG9
- Gillessen-Kaesbach-Nishimura Syndrome
MYO18B
- Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
ALX1
- Frontonasal Dysplasia 3
ALAS1
- Porphyria, Acute Intermittent
- Hereditary Coproporphyria
- Variegate Porphyria
- Porphyria
CLPX
- Protoporphyria, Erythropoietic, 2
HFE
- Variegate Porphyria
- Porphyria
KIRREL3
- Mental Retardation, Autosomal Dominant 4