Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
CSF3 P09919 colony stimulating factor 3 0.38 0.377 0.885 552 2
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808 511 0
HLA-C P10321 major histocompatibility complex, class I, C 1.6E-06 0.415 0.846 409 25
DMD P11532 dystrophin 1.00 0.423 0.923 360 36
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808 322 5
PML P29590 promyelocytic leukemia 0.21 0.477 0.846 210 5
PAX5 Q02548 paired box 5 1.00 0.487 0.654 191 9
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 165 2
BCAR1 P56945 BCAR1 scaffold protein, Cas family member 1.00 0.518 0.846 163 1
UROD P06132 uroporphyrinogen decarboxylase 1.3E-08 0.521 0.769 146 6
TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) 0.538 0.769 138 2
RTL1 A6NKG5 retrotransposon Gag like 1 5.6E-03 0.554 0.808 117 0
TCL1A P56279 T cell leukemia/lymphoma 1A 5.7E-10 0.558 0.500 105 2
TCL1B O95988 T cell leukemia/lymphoma 1B 1.0E-02 0.561 0.500 96 0
IGHV1-12 immunoglobulin heavy variable 1-12 (pseudogene) 0.569 0.654 89 0
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808 81 1
PEG10 Q86TG7 paternally expressed 10 0.87 0.597 0.615 75 0
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 69 1
PAX1 P15863 paired box 1 0.70 0.593 0.654 57 1
ENDOU P21128 endonuclease, poly(U) specific 3.2E-14 0.682 0.423 41 0
MOGS Q13724 mannosyl-oligosaccharide glucosidase 5.8E-11 0.626 0.731 38 3
DLEU7 Q6UYE1 deleted in lymphocytic leukemia 7 0.18 0.705 0.346 21 1
CRYBG1 Q9Y4K1 crystallin beta-gamma domain containing 1 3.5E-33 0.743 0.462 18 1
XIC X chromosome inactivation center 0.821 0.462 9 0