Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
TRPS1 Q9UHF7 transcriptional repressor GATA binding 1 1.00 0.537 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846
COG4 Q9H9E3 component of oligomeric golgi complex 4 4.0E-09 0.631 0.615
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
COL5A1 P20908 collagen type V alpha 1 chain 1.00 0.536 0.769
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
KYNU Q16719 kynureninase Enzyme 4.2E-18 0.617 0.692
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
PEX26 Q7Z412 peroxisomal biogenesis factor 26 0.93 0.584 0.615
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
FLNB O75369 filamin B 6.1E-10 0.458 0.923
PLOD2 O00469 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Enzyme 6.7E-08 0.559 0.654
GAN Q9H2C0 gigaxonin 2.5E-02 0.674 0.500
KIAA1109 Q2LD37 KIAA1109 3.3E-21 0.603 0.654
ALG12 Q9BV10 ALG12 alpha-1,6-mannosyltransferase Enzyme 1.2E-07 0.705 0.500