ENPP1 — ectonucleotide pyrophosphatase/phosphodiesterase 1 | MEDLIB

gene with protein productOMIM: 1733354 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3

Pseudoxanthoma elasticumORPHA:758

Hypopigmentation-punctate palmoplantar keratoderma syndromeORPHA:324561

Autosomal recessive hypophosphatemic ricketsORPHA:289176

Disease-causing germline mutation(s) (loss of function) in1

Generalized arterial calcification of infancyORPHA:51608

gene with protein productOMIM: 1733354 заболевания

GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)3

Pseudoxanthoma elasticumORPHA:758

Hypopigmentation-punctate palmoplantar keratoderma syndromeORPHA:324561

Autosomal recessive hypophosphatemic ricketsORPHA:289176

Disease-causing germline mutation(s) (loss of function) in1

Generalized arterial calcification of infancyORPHA:51608