Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423 1 1
NR2F1 P10589 nuclear receptor subfamily 2 group F member 1 Nuclear receptor 0.99 0.656 0.654 2 11
TBX19 O60806 T-box transcription factor 19 Transcription factor 7.1E-06 0.695 0.462 2 10
FOXP2 O15409 forkhead box P2 1.00 0.545 0.808 2 9
GDI1 P31150 GDP dissociation inhibitor 1 Enzyme 0.99 0.572 0.654 2 8
NR2F1-AS1 NR2F1 antisense RNA 1 0.780 0.308 2 8
ZDHHC9 Q9Y397 zinc finger DHHC-type palmitoyltransferase 9 0.74 0.670 0.577 2 7
SET Q01105 SET nuclear proto-oncogene Enzyme modulator 1.00 0.507 0.808 2 5
CRYBA1 P05813 crystallin beta A1 6.4E-05 0.716 0.269 2 4
SLC18A2 Q05940 solute carrier family 18 member A2 Transporter 7.6E-02 0.554 0.769 2 3
TRMT10A Q8TBZ6 tRNA methyltransferase 10A 3.9E-10 0.743 0.385 2 2
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308 2 1
CNOT3 O75175 CCR4-NOT transcription complex subunit 3 Transcription factor 1.00 0.686 0.615 2 1
BDNF-AS BDNF antisense RNA 0.638 0.538 2 1
OXSM Q9NWU1 3-oxoacyl-ACP synthase, mitochondrial 2.5E-05 0.861 0.115 2 1
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923 2 1
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654 3 186
WDR62 O43379 WD repeat domain 62 2.4E-23 0.597 0.615 3 29
HNRNPH2 P55795 heterogeneous nuclear ribonucleoprotein H2 Nucleic acid binding 0.95 0.691 0.462 3 25
TLK2 Q86UE8 tousled like kinase 2 Kinase 1.00 0.631 0.538 3 16
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577 3 11
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692 3 10
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115 3 9
PRUNE1 Q86TP1 prune exopolyphosphatase 1 9.1E-03 0.678 0.308 3 9