Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
ARMC5 Q96C12 armadillo repeat containing 5 0.11 0.670 0.500
CDH23 Q9H251 cadherin related 23 3.2E-06 0.539 0.769
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
SMC3 Q9UQE7 structural maintenance of chromosomes 3 1.00 0.535 0.846
TTC8 Q8TAM2 tetratricopeptide repeat domain 8 1.2E-06 0.631 0.500
USP8 P40818 ubiquitin specific peptidase 8 Enzyme 1.00 0.587 0.654