Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
PTCH1 Q13635 patched 1 1.00 0.398 0.885 262
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 239
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 200
MAPT P10636 microtubule associated protein tau 6.0E-03 0.446 0.923 190
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769 169
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846 165
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 161
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846 158
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731 153
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846 148
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654 145
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 141
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769 137
TET2 Q6N021 tet methylcytosine dioxygenase 2 4.3E-54 0.458 0.808 128
ADAR P55265 adenosine deaminase RNA specific Enzyme 2.6E-02 0.501 0.808 122
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808 122
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808 118
HFE Q30201 homeostatic iron regulator 2.6E-08 0.436 0.846 114
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846 112
KANSL1 Q7Z3B3 KAT8 regulatory NSL complex subunit 1 1.00 0.592 0.731 110
VAC14 Q08AM6 VAC14 component of PIKFYVE complex Receptor 0.19 0.588 0.731 106
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808 105
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808 100
CYP21A2 P08686 cytochrome P450 family 21 subfamily A member 2 2.6E-04 0.525 0.769 97