Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 440
Gene Symbol: ASNS
ASNS
P08243 asparagine synthetase (glutamine-hydrolyzing) Enzyme 90 0.595 0.692 9.4E-06 0.100 None 0 0
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 387787
Gene Symbol: LIPT2
LIPT2
A6NK58 lipoyl(octanoyl) transferase 2 20 0.821 0.154 0.63 0.100 None 0 0
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.100 None 0 0
Entrez Id: 10667
Gene Symbol: FARS2
FARS2
O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 89 0.615 0.731 9.3E-09 0.100 None 0 0
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1
P37268 farnesyl-diphosphate farnesyltransferase 1 62 0.621 0.615 4.1E-15 0.300 moderate 1.000 1 0 2018 2018