rs796051881, PEX5

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Chondrodysplasia Punctata, Rhizomelic
CUI: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
Asthma
CUI: C0004096
Disease: Asthma
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
Growth delay
CUI: C0456070
Disease: Growth delay
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.700 CausalMutation CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
0.700 CausalMutation CLINVAR