Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 238
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 219
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 214
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846 210
PRKAR1A P10644 protein kinase cAMP-dependent type I regulatory subunit alpha 1.00 0.401 0.846 205
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 202
BCOR Q6W2J9 BCL6 corepressor 1.00 0.471 0.808 180
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846 176
SMAD4 Q13485 SMAD family member 4 Transcription factor 1.00 0.401 0.808 173
TRNS1 tRNA 0.555 0.808 170
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846 168
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731 168
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769 153
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808 152
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731 151
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769 151
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 147
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 142
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846 142
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731 141
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846 140
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769 134
HLA-B P01889 major histocompatibility complex, class I, B 3.9E-05 0.379 0.885 133
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808 132