Source: ALL
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: 1312
Gene Symbol: COMT
COMT 		P21964 catechol-O-methyltransferase Enzyme 622 0.400 0.923 1.1E-06 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.030 None 1.000 3 0 1995 2010
Entrez Id: 10682
Gene Symbol: EBP
EBP 		Q15125 EBP cholestenol delta-isomerase Enzyme 243 0.494 0.846 0.94 0.100 None 0 0
Entrez Id: 2735
Gene Symbol: GLI1
GLI1 		P08151 GLI family zinc finger 1 369 0.431 0.846 7.7E-14 0.100 None 0 0
Entrez Id: 473
Gene Symbol: RERE
RERE 		Q9P2R6 arginine-glutamic acid dipeptide repeats 215 0.526 0.846 1.00 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.100 None 0 0
Entrez Id: 6469
Gene Symbol: SHH
SHH 		Q15465 sonic hedgehog signaling molecule 303 0.461 0.846 0.98 0.100 None 0 0
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423 		Q2M1K9 zinc finger protein 423 97 0.592 0.808 1.00 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1 		Q92766 ras responsive element binding protein 1 227 0.500 0.808 1.00 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16 		Q9HAZ2 PR/SET domain 16 200 0.522 0.808 1.00 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI 		P12755 SKI proto-oncogene 255 0.503 0.808 1.00 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.100 None 0 0
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		P54198 histone cell cycle regulator Nucleic acid binding 157 0.537 0.808 1.00 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		O75665 OFD1 centriole and centriolar satellite protein 261 0.510 0.808 0.96 0.100 None 0 0
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		P53992 SEC24 homolog C, COPII coat complex component Transporter 139 0.543 0.808 1.00 0.100 None 0 0
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C 		Q15652 jumonji domain containing 1C 214 0.517 0.769 1.00 0.100 None 0 0
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		P13224 glycoprotein Ib platelet subunit beta 192 0.524 0.769 0.51 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		O00192 ARVCF delta catenin family member Cellular structure 151 0.540 0.769 5.0E-11 0.100 None 0 0
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		Q9NXB0 MKS transition zone complex subunit 1 Extracellular structure 231 0.505 0.769 3.4E-16 0.100 None 0 0
Entrez Id: 7353
Gene Symbol: UFD1
UFD1 		Q92890 ubiquitin recognition factor in ER associated degradation 1 148 0.537 0.769 1.00 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1 		Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-29 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 0
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		Q8N960 centrosomal protein 120 153 0.564 0.731 4.1E-15 0.100 None 0 0