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: 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: 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: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 84 0.610 0.577 1.3E-26 0.100 None 0 0
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.020 None 1.000 2 0 1999 2017
Entrez Id: 3694
Gene Symbol: ITGB6
ITGB6 		P18564 integrin subunit beta 6 Receptor 92 0.597 0.692 1.6E-22 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 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
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		Q16518 retinoid isomerohydrolase RPE65 Enzyme 431 0.417 0.808 6.5E-14 0.020 None 1.000 2 0 2006 2010
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 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: 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: 1001
Gene Symbol: CDH3
CDH3 		P22223 cadherin 3 119 0.560 0.615 2.8E-10 0.100 None 0 0
Entrez Id: 197
Gene Symbol: AHSG
AHSG 		P02765 alpha 2-HS glycoprotein Enzyme modulator 204 0.506 0.846 3.2E-10 0.100 None 0 0
Entrez Id: 81846
Gene Symbol: SBF2
SBF2 		Q86WG5 SET binding factor 2 Enzyme 77 0.619 0.577 6.4E-10 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: 285203
Gene Symbol: EOGT
EOGT 		Q5NDL2 EGF domain specific O-linked N-acetylglucosamine transferase Enzyme 54 0.641 0.500 5.0E-09 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: 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: 1780
Gene Symbol: DYNC1I1
DYNC1I1 		O14576 dynein cytoplasmic 1 intermediate chain 1 Cellular structure 21 0.760 0.192 1.8E-07 0.010 None 1.000 1 0 2014 2014
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: 3954
Gene Symbol: LETM1
LETM1 		O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.100 None 0 0