Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 264
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846 210
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 209
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 205
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846 185
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 169
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846 168
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846 142
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923 125
TINF2 Q9BSI4 TERF1 interacting nuclear factor 2 1.3E-03 0.575 0.731 118
DKC1 O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 1.00 0.547 0.769 113
ERCC5 P28715 ERCC excision repair 5, endonuclease 2.7E-13 0.499 0.731 111
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846 103
TERC telomerase RNA component 0.471 0.846 99
RTEL1 Q9NZ71 regulator of telomere elongation helicase 1 Enzyme 8.9E-10 0.459 0.808 96
PARN O95453 poly(A)-specific ribonuclease Nucleic acid binding 3.7E-04 0.575 0.769 94
XYLT1 Q86Y38 xylosyltransferase 1 0.92 0.581 0.731 94
CTC1 Q2NKJ3 CST telomere replication complex component 1 1.6E-11 0.601 0.538 92
NHP2 Q9NX24 NHP2 ribonucleoprotein Nucleic acid binding 5.0E-02 0.623 0.654 84
MMP2 P08253 matrix metallopeptidase 2 Enzyme 0.84 0.333 0.923 82
MVK Q03426 mevalonate kinase Kinase 0.17 0.576 0.731 82
MLH1 P40692 mutL homolog 1 Nucleic acid binding 3.4E-05 0.399 0.808 81
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808 81
NOP10 Q9NPE3 NOP10 ribonucleoprotein Nucleic acid binding 0.77 0.631 0.654 80