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: 7979
Gene Symbol: SEM1
SEM1
P60896 SEM1 26S proteasome complex subunit 61 0.633 0.538 1.8E-02 0.170 None 1.000 7 0 1994 2017
Entrez Id: 100049542
Gene Symbol: SHFM3
SHFM3
Split-hand/foot malformation 3 13 0.780 0.115 0.050 None 1.000 5 0 1996 2007
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
Q07065 cytoskeleton associated protein 4 332 0.436 0.731 0.51 0.020 None 1.000 2 0 2006 2010
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
Q9P2Y5 UV radiation resistance associated 336 0.436 0.769 0.99 0.020 None 1.000 2 0 2006 2010
Entrez Id: 171157
Gene Symbol: SHFM5
SHFM5
split hand/foot malformation (ectrodactyly) type 5 6 0.839 0.115 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1913
Gene Symbol: EEC1
EEC1
ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 26 0.691 0.538 0.010 None 1.000 1 0 1993 1993
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
Q06609 RAD51 recombinase 363 0.447 0.846 2.7E-02 0.010 None 1.000 1 0 2017 2017
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9
Q7RTU4 basic helix-loop-helix family member a9 65 0.644 0.269 0.30 0.110 None 1.000 1 0 2016 2016
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
P22223 cadherin 3 119 0.560 0.615 2.8E-10 0.100 None 0 0
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
Q6NUS6 tectonic family member 3 136 0.566 0.615 4.2E-12 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 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 0.100 None 0 0
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
P51659 hydroxysteroid 17-beta dehydrogenase 4 141 0.546 0.654 2.4E-10 0.100 None 0 0
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
P04792 heat shock protein family B (small) member 1 395 0.436 0.808 2.8E-07 0.100 None 0 0
Entrez Id: 3423
Gene Symbol: IDS
IDS
P22304 iduronate 2-sulfatase 136 0.559 0.769 0.95 0.100 None 0 0
Entrez Id: 411
Gene Symbol: ARSB
ARSB
P15848 arylsulfatase B 96 0.595 0.692 7.0E-09 0.100 None 0 0
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
P25189 myelin protein zero 249 0.503 0.846 0.27 0.100 None 0 0
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
P46531 notch receptor 1 693 0.369 0.885 1.00 0.100 None 0 0
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.100 None 0 0
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
Q9NR61 delta like canonical Notch ligand 4 219 0.494 0.769 1.00 0.100 None 0 0
Entrez Id: 56704
Gene Symbol: JPH1
JPH1
Q9HDC5 junctophilin 1 29 0.705 0.269 0.77 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31
Q2M1Z3 Rho GTPase activating protein 31 96 0.581 0.615 1.00 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX
Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 0.100 None 0 0