Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
SRD5A3-AS1 SRD5A3 antisense RNA 1 0.931 0.077 4 4
DMBX1 Q8NFW5 diencephalon/mesencephalon homeobox 1 0.93 0.780 0.115 6 1
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115 3 9
OXSM Q9NWU1 3-oxoacyl-ACP synthase, mitochondrial 2.5E-05 0.861 0.115 2 1
FAM120AOS Q5T036 family with sequence similarity 120A opposite strand 2.2E-02 0.861 0.154 7 1
TMEM47 Q9BQJ4 transmembrane protein 47 0.80 0.821 0.154 6 1
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154 4 2
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231 11 1
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231 7 9
CLUAP1 Q96AJ1 clusterin associated protein 1 4.2E-04 0.805 0.231 6 3
RPS6KC1 Q96S38 ribosomal protein S6 kinase C1 Kinase 1.3E-03 0.821 0.231 6 1
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231 4 5
MTSS2 Q765P7 MTSS I-BAR domain containing 2 Cellular structure 0.98 0.839 0.231 4 1
CRYBA1 P05813 crystallin beta A1 6.4E-05 0.716 0.269 2 4
CHRNB2 P17787 cholinergic receptor nicotinic beta 2 subunit Ion channel 7.3E-04 0.617 0.308 5 8
STX1B P61266 syntaxin 1B Transporter 0.99 0.650 0.308 4 9
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308 4 3
LAMC3 Q9Y6N6 laminin subunit gamma 3 Enzyme modulator 1.4E-23 0.722 0.308 3 5
PRUNE1 Q86TP1 prune exopolyphosphatase 1 9.1E-03 0.678 0.308 3 9
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308 2 1
NR2F1-AS1 NR2F1 antisense RNA 1 0.780 0.308 2 8
THAP11 Q96EK4 THAP domain containing 11 0.83 0.769 0.346 11 1
MLLT1 Q03111 MLLT1 super elongation complex subunit Nucleic acid binding 0.99 0.663 0.346 7 1
MYBPC3 Q14896 myosin binding protein C3 8.0E-11 0.593 0.385 25 357