Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
FAM177A1 Q8N128 family with sequence similarity 177 member A1 Enzyme 1.2E-03 0.769 0.231 3 1
TMEM94 Q12767 transmembrane protein 94 2.8E-14 0.628 0.654 73 2
TICRR Q7Z2Z1 TOPBP1 interacting checkpoint and replication regulator 7.2E-14 0.769 0.423 14 2
FIBP O43427 FGF1 intracellular binding protein 4.4E-06 0.674 0.538 7 2
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731 28 3
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423 18 3
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500 16 3
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500 11 3
RIN2 Q8WYP3 Ras and Rab interactor 2 Enzyme modulator 8.1E-04 0.623 0.692 6 3
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808 8 4
TRIT1 Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 4.1E-11 0.621 0.692 3 4
UPF3B Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 0.98 0.619 0.615 6 5
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577 26 6
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846 36 7
PPP2R5D Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 1.00 0.722 0.462 7 7
NFIA Q12857 nuclear factor I A Nucleic acid binding 1.00 0.599 0.808 6 7
NFIB O00712 nuclear factor I B Nucleic acid binding 1.00 0.573 0.654 3 7
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423 8 8
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538 16 10
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500 12 10
HEPACAM Q14CZ8 hepatic and glial cell adhesion molecule 0.87 0.621 0.500 11 10
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500 17 14
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423 10 14