Disease: Familial aplasia of the vermis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731
KIAA0556 O60303 KIAA0556 1.2E-29 0.644 0.538
CEP104 O60308 centrosomal protein 104 1.2E-12 0.670 0.423
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615
FGF8 P55075 fibroblast growth factor 8 Signaling 0.68 0.507 0.769
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
ZNF423 Q2M1K9 zinc finger protein 423 1.00 0.592 0.808
TCTN1 Q2MV58 tectonic family member 1 1.1E-15 0.597 0.615
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769
ARMC9 Q7Z3E5 armadillo repeat containing 9 6.2E-17 0.612 0.731
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
CEP120 Q8N960 centrosomal protein 120 4.1E-15 0.564 0.731
PIBF1 Q8WXW3 progesterone immunomodulatory binding factor 1 1.9E-11 0.670 0.462
TCTN2 Q96GX1 tectonic family member 2 1.8E-14 0.578 0.654
HYLS1 Q96M11 HYLS1 centriolar and ciliogenesis associated 2.3E-09 0.572 0.692
TMEM237 Q96Q45 transmembrane protein 237 1.9E-12 0.612 0.538
SMO Q99835 smoothened, frizzled class receptor G-protein coupled receptor 4.3E-07 0.489 0.731
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
CEP41 Q9BYV8 centrosomal protein 41 3.6E-06 0.636 0.500
TMEM231 Q9H6L2 transmembrane protein 231 3.1E-07 0.554 0.692
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692