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: 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: 203859
Gene Symbol: ANO5
ANO5
Q75V66 anoctamin 5 110 0.619 0.538 2.9E-22 0.100 None 0 1
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 136 0.555 0.731 1.1E-44 0.100 None 0 0
Entrez Id: 199221
Gene Symbol: DZIP1L
DZIP1L
Q8IYY4 DAZ interacting zinc finger protein 1 like Nucleic acid binding 21 0.769 0.308 2.4E-25 0.100 None 0 0
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15
Q96J42 thioredoxin domain containing 15 22 0.736 0.615 9.6E-03 0.100 None 0 2
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: 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: 79583
Gene Symbol: TMEM231
TMEM231
Q9H6L2 transmembrane protein 231 132 0.554 0.692 3.1E-07 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 3
Entrez Id: 157570
Gene Symbol: ESCO2
ESCO2
Q56NI9 establishment of sister chromatid cohesion N-acetyltransferase 2 124 0.581 0.615 3.2E-07 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.100 None 0 1
Entrez Id: 57787
Gene Symbol: MARK4
MARK4
Q96L34 microtubule affinity regulating kinase 4 Kinase 73 0.641 0.615 1.00 0.100 None 0 1
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 2
Entrez Id: 79577
Gene Symbol: CDC73
CDC73
Q6P1J9 cell division cycle 73 144 0.543 0.615 1.00 0.100 None 0 0
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
P13804 electron transfer flavoprotein subunit alpha Enzyme 195 0.508 0.731 2.9E-03 0.100 None 0 0
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Q15477 Ski2 like RNA helicase 96 0.615 0.654 1.3E-22 0.100 None 0 0
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
Q6UX98 zinc finger DHHC-type containing 24 30 0.722 0.462 4.2E-04 0.100 None 0 1
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
Q15475 SIX homeobox 1 Transcription factor 200 0.496 0.692 0.65 0.100 None 0 0
Entrez Id: 64132
Gene Symbol: XYLT2
XYLT2
Q9H1B5 xylosyltransferase 2 138 0.566 0.808 0.93 0.200 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: 23193
Gene Symbol: GANAB
GANAB
Q14697 glucosidase II alpha subunit Enzyme 26 0.716 0.423 1.00 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: 2812
Gene Symbol: GP1BB
GP1BB
P13224 glycoprotein Ib platelet subunit beta 192 0.524 0.769 0.51 0.100 None 0 0