Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7265
Gene Symbol: TTC1
TTC1
Q99614 tetratricopeptide repeat domain 1 2 2.5E-06 0.100 None 0 1
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
Q9UM47 notch receptor 3 418 0.435 0.808 0.41 0.100 None 0 1
Entrez Id: 6098
Gene Symbol: ROS1
ROS1
P08922 ROS proto-oncogene 1, receptor tyrosine kinase Kinase 356 0.439 0.885 1.6E-72 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 998
Gene Symbol: CDC42
CDC42
P60953 cell division cycle 42 Enzyme modulator 327 0.458 0.846 0.79 0.100 None 0 2
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
Q6W2J9 BCL6 corepressor 314 0.471 0.808 1.00 0.100 None 0 1
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
O60315 zinc finger E-box binding homeobox 2 Transcription factor 292 0.471 0.808 1.00 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
O60733 phospholipase A2 group VI Enzyme modulator 350 0.476 0.846 2.5E-10 0.100 None 0 3
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
Q86YC2 partner and localizer of BRCA2 260 0.485 0.769 3.0E-19 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 0 1
Entrez Id: 6594
Gene Symbol: SMARCA1
SMARCA1
P28370 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 Enzyme 183 0.504 0.808 1.00 0.100 None 0 1
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
O75665 OFD1 centriole and centriolar satellite protein 261 0.510 0.808 0.96 0.100 None 1.000 2 1 2008 2014
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 1
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.100 None 0 2
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 2
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.100 None 0 1
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 1.000 1 1 2007 2007
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
Q8IZT6 abnormal spindle microtubule assembly 159 0.526 0.769 3.4E-49 0.100 None 0 2
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.100 None 1.000 2 8 2014 2014
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
P07602 prosaposin 189 0.532 0.846 0.99 0.100 None 1.000 1 1 2009 2009
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 1
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 1
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
P41225 SRY-box transcription factor 3 Transcription factor 151 0.535 0.731 0.45 0.100 None 0 1
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
Q8NEM0 microcephalin 1 Nucleic acid binding 141 0.540 0.846 7.8E-30 0.100 None 0 1