Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
SH2B3 Q9UQQ2 SH2B adaptor protein 3 1.0E-04 0.527 0.692
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
G6PC P35575 glucose-6-phosphatase catalytic subunit 1.8E-05 0.560 0.692
DKC1 O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 1.00 0.547 0.769
JAK2 O60674 Janus kinase 2 Kinase 0.65 0.385 0.885
HBA2 P69905 hemoglobin subunit alpha 2 3.1E-03 0.512 0.808
FAS P25445 Fas cell surface death receptor 0.81 0.372 0.923
SBDS Q9Y3A5 SBDS ribosome maturation factor Enzyme 6.2E-05 0.601 0.692
SPTB P11277 spectrin beta, erythrocytic 1.00 0.650 0.462
ADA2 Q9NZK5 adenosine deaminase 2 Enzyme 8.1E-08 0.545 0.846
ALPK1 Q96QP1 alpha kinase 1 Kinase 1.0E-19 0.644 0.615
NEK4 P51957 NIMA related kinase 4 Kinase 8.7E-27 0.751 0.192