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: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2
P46019 phosphorylase kinase regulatory subunit alpha 2 Kinase 47 0.678 0.462 0.38 0.100 None 0 0
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1
O60240 perilipin 1 85 0.590 0.654 3.1E-11 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 5450
Gene Symbol: POU2AF1
POU2AF1
Q16633 POU class 2 homeobox associating factor 1 70 0.608 0.615 0.57 0.100 None 0 0
Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
Q9NQ48 leucine zipper transcription factor like 1 64 0.638 0.692 5.9E-02 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: 55212
Gene Symbol: BBS7
BBS7
Q8IWZ6 Bardet-Biedl syndrome 7 47 0.682 0.462 7.1E-09 0.100 None 0 0
Entrez Id: 55505
Gene Symbol: NOP10
NOP10
Q9NPE3 NOP10 ribonucleoprotein Nucleic acid binding 85 0.631 0.654 0.77 0.100 None 0 0
Entrez Id: 55651
Gene Symbol: NHP2
NHP2
Q9NX24 NHP2 ribonucleoprotein Nucleic acid binding 91 0.623 0.654 5.0E-02 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
Q96KG9 SCY1 like pseudokinase 1 Kinase 104 0.582 0.769 2.5E-08 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
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 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 0
Entrez Id: 5825
Gene Symbol: ABCD3
ABCD3
P28288 ATP binding cassette subfamily D member 3 Transporter 23 0.751 0.423 7.8E-03 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Q96RK4 Bardet-Biedl syndrome 4 63 0.647 0.615 1.5E-16 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: 6689
Gene Symbol: SPIB
SPIB
Q01892 Spi-B transcription factor Transcription factor 58 0.628 0.538 0.91 0.100 None 0 0
Entrez Id: 6888
Gene Symbol: TALDO1
TALDO1
P37837 transaldolase 1 85 0.608 0.654 2.5E-06 0.100 None 0 0
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.100 None 0 0
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
Q9BUN5 coiled-coil domain containing 28B Receptor 55 0.659 0.538 3.2E-09 0.100 None 0 0
Entrez Id: 79258
Gene Symbol: MMEL1
MMEL1
Q495T6 membrane metalloendopeptidase like 1 Enzyme 74 0.606 0.692 1.2E-22 0.100 None 0 0
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 0 0
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.100 None 0 0