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: 51816
Gene Symbol: ADA2
ADA2
Q9NZK5 adenosine deaminase 2 Enzyme 165 0.545 0.846 8.1E-08 0.100 None 0 0
Entrez Id: 83854
Gene Symbol: ANGPTL6
ANGPTL6
Q8NI99 angiopoietin like 6 Signaling 48 0.656 0.462 2.4E-08 0.100 None 0 0
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
O76090 bestrophin 1 Ion channel 292 0.465 0.885 1.8E-12 0.100 None 0 0
Entrez Id: 686
Gene Symbol: BTD
BTD
P43251 biotinidase Enzyme 90 0.628 0.654 1.5E-07 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
P36894 bone morphogenetic protein receptor type 1A Kinase 203 0.522 0.731 0.90 0.100 None 0 0
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
P58418 clarin 1 77 0.633 0.423 1.7E-08 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
P02461 collagen type III alpha 1 chain 301 0.477 0.808 1.00 0.100 None 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.100 None 0 0
Entrez Id: 2022
Gene Symbol: ENG
ENG
P17813 endoglin 371 0.446 0.846 1.00 0.100 None 0 0
Entrez Id: 4072
Gene Symbol: EPCAM
EPCAM
P16422 epithelial cell adhesion molecule 328 0.451 0.885 1.3E-07 0.100 None 0 0
Entrez Id: 22909
Gene Symbol: FAN1
FAN1
Q9Y2M0 FANCD2 and FANCI associated nuclease 1 93 0.610 0.577 1.7E-25 0.100 None 0 0
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 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: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.100 None 0 0
Entrez Id: 3617
Gene Symbol: IMPG1
IMPG1
Q17R60 interphotoreceptor matrix proteoglycan 1 Extracellular structure 22 0.722 0.154 1.4E-29 0.100 None 0 0
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
Q9BZV3 interphotoreceptor matrix proteoglycan 2 Extracellular structure 57 0.659 0.308 2.8E-13 0.100 None 0 0
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
Q5T440 iron-sulfur cluster assembly factor IBA57 63 0.666 0.423 8.4E-03 0.100 None 0 0
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
O60674 Janus kinase 2 Kinase 644 0.385 0.885 0.65 0.100 None 0 0
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
P01116 KRAS proto-oncogene, GTPase Enzyme modulator 1213 0.320 0.923 7.9E-04 0.100 None 0 0
Entrez Id: 4117
Gene Symbol: MAK
MAK
P20794 male germ cell associated kinase Kinase 41 0.695 0.346 8.6E-19 0.100 None 0 0
Entrez Id: 4327
Gene Symbol: MMP19
MMP19
Q99542 matrix metallopeptidase 19 Enzyme 64 0.623 0.615 2.0E-20 0.100 None 0 0
Entrez Id: 4352
Gene Symbol: MPL
MPL
P40238 MPL proto-oncogene, thrombopoietin receptor Receptor 222 0.510 0.692 4.1E-09 0.100 None 0 0
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
P40692 mutL homolog 1 Nucleic acid binding 526 0.399 0.808 3.4E-05 0.100 None 0 0
Entrez Id: 27030
Gene Symbol: MLH3
MLH3
Q9UHC1 mutL homolog 3 Nucleic acid binding 108 0.582 0.538 4.9E-08 0.100 None 0 0
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
P43246 mutS homolog 2 Nucleic acid binding 490 0.406 0.808 0.90 0.100 None 0 0