Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ISCA1 Q9BUE6 iron-sulfur cluster assembly 1 0.17 0.792 0.231
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
EIF2B5 Q13144 eukaryotic translation initiation factor 2B subunit epsilon 6.4E-02 0.615 0.769
DARS1 P14868 aspartyl-tRNA synthetase 1 Enzyme 8.5E-06 0.711 0.500
SLC17A5 Q9NRA2 solute carrier family 17 member 5 Transporter 6.9E-10 0.491 0.808
RNF216 Q9NWF9 ring finger protein 216 2.3E-06 0.670 0.615
DEGS1 O15121 delta 4-desaturase, sphingolipid 1 0.14 0.621 0.731