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PEX6
peroxisomal biogenesis factor 6
gene with protein product
OMIM: 601498
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Zellweger syndrome
ORPHA:912
→
Neonatal adrenoleukodystrophy
ORPHA:44
→
Infantile Refsum disease
ORPHA:772
→
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
ORPHA:95433
→
Disease-causing germline mutation(s) (loss of function) in
1
Deafness-enamel hypoplasia-nail defects syndrome
ORPHA:3220
→
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Редкие заболевания
PEX6
🧬
PEX6
peroxisomal biogenesis factor 6
gene with protein product
OMIM: 601498
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Zellweger syndrome
ORPHA:912
→
Neonatal adrenoleukodystrophy
ORPHA:44
→
Infantile Refsum disease
ORPHA:772
→
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
ORPHA:95433
→
Disease-causing germline mutation(s) (loss of function) in
1
Deafness-enamel hypoplasia-nail defects syndrome
ORPHA:3220
→