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: 7840
Gene Symbol: ALMS1
ALMS1
Q8TCU4 ALMS1 centrosome and basal body associated protein 147 0.559 0.808 4.5E-60 1.000 definitive 1.000 63 179 1998 2020
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
Q14203 dynactin subunit 1 Chaperone 116 0.597 0.500 8.4E-02 0.010 None 1.000 1 0 1998 1998
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8195
Gene Symbol: MKKS
MKKS
Q9NPJ1 McKusick-Kaufman syndrome 123 0.566 0.692 2.1E-09 0.010 None 1.000 1 0 2010 2010
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.010 None 1.000 1 0 2019 2019
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Q9H251 cadherin related 23 203 0.539 0.769 3.2E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6010
Gene Symbol: RHO
RHO
P08100 rhodopsin G-protein coupled receptor 178 0.525 0.769 1.3E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57835
Gene Symbol: SLC4A5
SLC4A5
Q9BY07 solute carrier family 4 member 5 Transporter 5 1.000 0.115 1.1E-13 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
O75051 plexin A2 307 0.447 0.808 1.1E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2691
Gene Symbol: GHRH
GHRH
P01286 growth hormone releasing hormone Signaling 176 0.503 0.769 0.15 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2688
Gene Symbol: GH1
GH1
P01241 growth hormone 1 Signaling 686 0.373 0.923 3.0E-02 0.010 None 1.000 1 0 2003 2003
Entrez Id: 85474
Gene Symbol: LBX2
LBX2
Q6XYB7 ladybird homeobox 2 Transcription factor 6 0.839 0.231 5.9E-03 0.010 None 1.000 1 0 2001 2001