Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
TYW1 Q9NV66 tRNA-yW synthesizing protein 1 homolog Enzyme 2.0E-10 0.890 5 2
SLFN14 P0C7P3 schlafen family member 14 3.5E-09 0.931 3 4
CRPPA-AS1 CRPPA antisense RNA 1 0.890 3 2
MTIF2 P46199 mitochondrial translational initiation factor 2 Enzyme 3.7E-10 1.000 2 1
MRNIP Q6NTE8 MRN complex interacting protein 1.3E-05 0.931 2 2
CEP97 Q8IW35 centrosomal protein 97 2.0E-11 1.000 2 1
ERMAP Q96PL5 erythroblast membrane associated protein (Scianna blood group) Enzyme modulator 4.9E-10 2 2
TUBB8 Q3ZCM7 tubulin beta 8 class VIII 1.8E-02 1.000 2 8
MYLK-AS1 MYLK antisense RNA 1 0.931 2 1
DNAAF4-CCPG1 DNAAF4-CCPG1 readthrough (NMD candidate) 1.000 2 7
ASIC4-AS1 ASIC4 antisense RNA 1 0.931 2 7
KCND1 Q9NSA2 potassium voltage-gated channel subfamily D member 1 Ion channel 0.26 1 2
TRND tRNA 1.000 1 1
GATB O75879 glutamyl-tRNA amidotransferase subunit B Enzyme 4.0E-10 1.000 1 2
TTC1 Q99614 tetratricopeptide repeat domain 1 2.5E-06 1 1
WDR6 Q9NNW5 WD repeat domain 6 2.1E-09 1 1
ZP1 P60852 zona pellucida glycoprotein 1 1.9E-21 0.890 1 1
FAM189A1 O60320 family with sequence similarity 189 member A1 3.9E-02 1.000 1 2
H2AP O75409 H2A.P histone Nucleic acid binding 1 1
FBXL6 Q8N531 F-box and leucine rich repeat protein 6 4.2E-09 1.000 1 17
SPDL1 Q96EA4 spindle apparatus coiled-coil protein 1 8.6E-17 1 1
DALRD3 Q5D0E6 DALR anticodon binding domain containing 3 Enzyme 1.7E-10 1.000 1 3
ZNF446 Q9NWS9 zinc finger protein 446 5.7E-08 1 1
LBHD1 Q9BQE6 LBH domain containing 1 2.1E-05 1.000 1 1