Disease: Familial (FPAH)
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CXADRP1 CXADR pseudogene 1 0.463 0.846
MTCO2P12 MT-CO2 pseudogene 12 0.368 0.962
TNFRSF11B O00300 TNF receptor superfamily member 11b 0.16 0.422 0.808
FOXE1 O00358 forkhead box E1 Transcription factor 0.79 0.573 0.731
KRIT1 O00522 KRIT1 ankyrin repeat containing 6.9E-04 0.500 0.808
TERT O14746 telomerase reverse transcriptase Enzyme 0.99 0.374 0.846
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
PER2 O15055 period circadian regulator 2 Transcription factor 0.71 0.488 0.846
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885
ATP8B1 O43520 ATPase phospholipid transporting 8B1 Transporter 2.8E-10 0.610 0.500
DCX O43602 doublecortin 0.30 0.511 0.769
BUB1 O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 4.9E-09 0.528 0.731
BUB3 O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 0.81 0.588 0.615
TRIM13 O60858 tripartite motif containing 13 0.64 0.462 0.846
PROP1 O75360 PROP paired-like homeobox 1 8.8E-02 0.576 0.615
PDE8B O95263 phosphodiesterase 8B 1.00 0.638 0.500
ABCB11 O95342 ATP binding cassette subfamily B member 11 Transporter 1.6E-12 0.566 0.654
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
SGPL1 O95470 sphingosine-1-phosphate lyase 1 3.6E-03 0.597 0.731
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962
REN P00797 renin Enzyme 2.4E-07 0.370 0.923
AGT P01019 angiotensinogen Enzyme modulator 5.0E-08 0.367 0.923