Disease: Cafe au lait spots, multiple
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885
FANCG O15287 FA complementation group G 2.5E-14 0.556 0.769
FANCA O15360 FA complementation group A 1.6E-68 0.505 0.731
RAD51C O43502 RAD51 paralog C 6.2E-14 0.533 0.692
XRCC2 O43543 X-ray repair cross complementing 2 4.0E-07 0.512 0.731
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
MSH2 P43246 mutS homolog 2 Nucleic acid binding 0.90 0.406 0.808
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
FANCC Q00597 FA complementation group C 2.8E-13 0.507 0.808
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846
ATM Q13315 ATM serine/threonine kinase Kinase 5.6E-47 0.374 0.885
TRIP13 Q15645 thyroid hormone receptor interactor 13 1.00 0.559 0.654
RFWD3 Q6PCD5 ring finger and WD repeat domain 3 Enzyme 3.5E-10 0.569 0.731
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
SLX4 Q8IY92 SLX4 structure-specific endonuclease subunit 1.6E-22 0.565 0.731
FANCM Q8IYD8 FA complementation group M Enzyme 2.4E-15 0.543 0.731
FANCB Q8NB91 FA complementation group B 1.00 0.468 0.769
ERCC4 Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 1.4E-12 0.468 0.846
SDHC Q99643 succinate dehydrogenase complex subunit C 2.0E-04 0.517 0.846
BRIP1 Q9BX63 BRCA1 interacting protein C-terminal helicase 1 Enzyme 6.2E-17 0.507 0.731
FANCD2 Q9BXW9 FA complementation group D2 1.1E-30 0.479 0.885
FANCE Q9HB96 FA complementation group E 1.5E-06 0.553 0.808