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: 7480
Gene Symbol: WNT10B
WNT10B 		O00744 Wnt family member 10B Signaling 90 0.576 0.654 3.6E-04 0.100 None 0 0
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		O00755 Wnt family member 7A Signaling 182 0.531 0.692 3.6E-02 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: 3664
Gene Symbol: IRF6
IRF6 		O14896 interferon regulatory factor 6 Transcription factor 233 0.486 0.769 1.00 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: 7468
Gene Symbol: NSD2
NSD2 		O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 224 0.507 0.769 1.00 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: 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: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		P08253 matrix metallopeptidase 2 Enzyme 1021 0.333 0.923 0.84 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: 1959
Gene Symbol: EGR2
EGR2 		P11161 early growth response 2 Nucleic acid binding 133 0.547 0.769 0.50 0.100 None 0 0
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		P11362 fibroblast growth factor receptor 1 Kinase 816 0.362 0.885 1.00 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: 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: 1001
Gene Symbol: CDH3
CDH3 		P22223 cadherin 3 119 0.560 0.615 2.8E-10 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: 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
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: 5905
Gene Symbol: RANGAP1
RANGAP1 		P46060 Ran GTPase activating protein 1 Enzyme modulator 49 0.617 0.538 2.6E-02 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		P46531 notch receptor 1 693 0.369 0.885 1.00 0.100 None 0 0