Zellweger syndrome

Disease Term Disease ID Gene Symbol Classification References Source
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) C4721541 PEX1 Causal Pathogenic evidence from ClinVar 9398847, 9398848, 9539740, 10384394, 10447258, 11389485, 11439091, 12032265, 12402331, 15098231, 15542397, 16086329, 16088892, 16141001, 19105186, 20952722, 21031596, 21844578, 21846392, 23247051, 24503136, 25412400, 25525159, 25655951, 26219880, 26287655, 26387595, 26594346, 26643206, 27090541, 27353947, 27604308, 27633571, 27872819, 27882258, 28468868 ClinVar
PEX10 Causal Pathogenic evidence from ClinVar - ClinVar
PEX12 Causal Pathogenic evidence from ClinVar - ClinVar
PEX14 Causal Pathogenic evidence from ClinVar - ClinVar
PEX16 Causal Pathogenic evidence from ClinVar - ClinVar
PEX19 Causal Pathogenic evidence from ClinVar - ClinVar
PEROXISOME BIOGENESIS DISORDER 2B C3550234 PEX1 Causal Pathogenic evidence from ClinVar - ClinVar
PEX10 Causal Pathogenic evidence from ClinVar - ClinVar
PEX13 Causal Pathogenic evidence from ClinVar - ClinVar
PEROXISOME BIOGENESIS DISORDER 3B C3550693 PEX1 Causal Pathogenic evidence from ClinVar - ClinVar
PEX12 Causal Pathogenic evidence from ClinVar 9090384, 9354782, 9792857, 10562279, 10837480, 11370741, 14571262, 15542397, 19105186, 20681997, 21031596, 22471590, 24357685, 25655951, 27124789, 27604308, 27763634 ClinVar
Peroxisome biogenesis disorders C1832200 PEX1 Causal Pathogenic evidence from ClinVar 9398847, 9398848, 9539740, 10447258, 12032265, 19105186, 19877282, 21031596, 21846392, 25525159, 26643206, 27604308 ClinVar
PEX10 Causal Pathogenic evidence from ClinVar 9683594, 9700193, 10862081, 12794690, 17702006, 21031596, 27604308 ClinVar
PEX11B Causal Pathogenic evidence from ClinVar - ClinVar
PEX12 Causal Pathogenic evidence from ClinVar 9090384, 9792857, 10527683, 14630978, 15542397, 19105186, 19877282, 21031596, 25287621, 27604308, 29389947 ClinVar
PEX13 Causal Pathogenic evidence from ClinVar 10332040, 10441568, 19449432, 27604308 ClinVar
PEX14 Causal Pathogenic evidence from ClinVar 15146459, 18285423, 20647552, 27604308 ClinVar
PEX16 Causal Pathogenic evidence from ClinVar 11890679, 12223482, 27604308 ClinVar
PEX19 Causal Pathogenic evidence from ClinVar 20683989, 27604308 ClinVar
Zellweger Spectrum C3658299 PEX1 Causal Pathogenic evidence from ClinVar 9539740, 10447258, 26319495 ClinVar
PEX10 Causal Pathogenic evidence from ClinVar 9683594, 9700193, 10862081, 26319495 ClinVar
PEX12 Causal Pathogenic evidence from ClinVar 9090384, 26319495 ClinVar
PEX13 Causal Pathogenic evidence from ClinVar 10332040, 19449432 ClinVar
PEX14 Causal Pathogenic evidence from ClinVar 15146459, 18285423 ClinVar
PEX16 Causal Pathogenic evidence from ClinVar 11890679, 20647552, 27604308 ClinVar
Zellweger syndrome 912 PEX1 Causal Pathogenic evidence from ClinVar - ClinVar
PEX10 Causal Pathogenic evidence from ClinVar - ClinVar
PEX11B Causal Pathogenic evidence from ClinVar - ClinVar
PEX12 Causal Pathogenic evidence from ClinVar - ClinVar
PEX13 Causal Pathogenic evidence from ClinVar - ClinVar
PEX14 Causal Pathogenic evidence from ClinVar - ClinVar
PEX16 Causal Pathogenic evidence from ClinVar - ClinVar
Zellweger Syndrome C0043459 PEX1 Causal Pathogenic evidence from ClinVar 9398847, 9398848, 9539740, 10447258, 26319495 ClinVar
PEX10 Causal Pathogenic evidence from ClinVar 9683594, 9700193, 10862081, 25655951, 26319495 ClinVar
PEX11B Causal Pathogenic evidence from ClinVar 22581968 ClinVar
PEX12 Causal Pathogenic evidence from ClinVar 9090384, 26319495 ClinVar
PEX13 Causal Pathogenic evidence from ClinVar 10332040, 19449432 ClinVar
PEX14 Causal Pathogenic evidence from ClinVar 15146459, 18285423 ClinVar
PEX16 Causal Pathogenic evidence from ClinVar 11890679, 20647552, 27604308 ClinVar
PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) C3553947 PEX10 Causal Pathogenic evidence from ClinVar 7565793, 9683594, 9700193, 10862081, 12794690, 15542397, 17041890, 17702006, 19142205, 20695019, 21031596, 25179809, 25525159, 27604308, 28784167 ClinVar
PEROXISOME BIOGENESIS DISORDER 6B C3553948 PEX10 Causal Pathogenic evidence from ClinVar 7565793, 9683594, 10862081, 12794690, 15542397, 17041890, 17702006, 20695019, 21031596, 21465523, 24357685, 25179809, 25525159, 27604308 ClinVar
Peroxisome Biogenesis Disorder, Complementation Group 7 C1864399 PEX10 Causal Pathogenic evidence from ClinVar 9683594, 9700193, 10862081, 12794690, 17041890, 19105186, 19142205, 20695019, 21031596 ClinVar
PEROXISOME BIOGENESIS DISORDER 14B C3554055 PEX11B Causal Pathogenic evidence from ClinVar 22581968, 24357685, 26233629, 28129423 ClinVar
PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) C3553929 PEX12 Causal Pathogenic evidence from ClinVar 9090384, 9354782, 9632816, 9792857, 10562279, 10837480, 11370741, 14571262, 15542397, 19105186, 20681997, 21031596, 22471590, 24357685, 25655951, 27124789, 27604308, 27763634 ClinVar
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) C3554000 PEX13 Causal Pathogenic evidence from ClinVar 19449432, 23716570, 24357685, 25655951, 27604308 ClinVar
PEROXISOME BIOGENESIS DISORDER 11B C3554001 PEX13 Causal Pathogenic evidence from ClinVar 10332040, 10441568, 19449432, 23716570, 24357685, 25655951 ClinVar
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) C3554004 PEX14 Causal Pathogenic evidence from ClinVar 15146459, 18285423, 24357685, 26627464, 27604308 ClinVar
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) C3553959 PEX16 Causal Pathogenic evidence from ClinVar 11890679, 20647552, 24357685, 27604308 ClinVar
PEROXISOME BIOGENESIS DISORDER 8B C3553960 PEX16 Causal Pathogenic evidence from ClinVar 20647552, 24357685, 26633545 ClinVar
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) C3554002 PEX19 Causal Pathogenic evidence from ClinVar 20683989, 24357685, 27604308 ClinVar