Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FLG-AS1 FLG antisense RNA 1 0.700 0.538
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846
RALA P11233 RAS like proto-oncogene A Enzyme modulator 0.97 0.656 0.577
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
FLG P20930 filaggrin Cellular structure 2.9E-04 0.525 0.846
SYT1 P21579 synaptotagmin 1 Transporter 0.60 0.412 0.846
PAX6 P26367 paired box 6 1.00 0.450 0.769
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
MYH9 P35579 myosin heavy chain 9 1.00 0.505 0.808
NUP214 P35658 nucleoporin 214 Nucleic acid binding 5.5E-02 0.638 0.385
SLC6A8 P48029 solute carrier family 6 member 8 Transporter 1.00 0.476 0.846
CDK8 P49336 cyclin dependent kinase 8 Kinase 0.41 0.597 0.654
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
TAF6 P49848 TATA-box binding protein associated factor 6 Transcription factor 8.3E-09 0.769 0.308
SMARCA2 P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 Epigenetic regulator 1.00 0.527 0.769
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692