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: 2632
Gene Symbol: GBE1
GBE1
Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 9200
Gene Symbol: HACD1
HACD1
B0YJ81 3-hydroxyacyl-CoA dehydratase 1 160 0.539 0.846 1.3E-09 0.100 None 0 0
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: 429
Gene Symbol: ASCL1
ASCL1
P50553 achaete-scute family bHLH transcription factor 1 Transcription factor 136 0.552 0.692 0.68 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 72
Gene Symbol: ACTG2
ACTG2
P63267 actin gamma 2, smooth muscle Cellular structure 205 0.505 0.808 7.1E-02 0.100 None 0 0
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
Q8N9N2 activating signal cointegrator 1 complex subunit 1 209 0.495 0.846 2.6E-14 0.100 None 0 0
Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3
O15072 ADAM metallopeptidase with thrombospondin type 1 motif 3 Enzyme 116 0.581 0.808 1.0E-10 0.100 None 0 0
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 65 0.666 0.385 6.6E-05 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
O00468 agrin 124 0.626 0.538 5.5E-07 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 64 0.644 0.500 5.0E-17 0.100 None 0 2
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
Q9BV10 ALG12 alpha-1,6-mannosyltransferase Enzyme 49 0.705 0.500 1.2E-07 0.100 None 0 0
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 64 0.659 0.577 1.2E-08 0.100 None 0 1
Entrez Id: 249
Gene Symbol: ALPL
ALPL
P05186 alkaline phosphatase, biomineralization associated Enzyme 190 0.546 0.769 3.6E-04 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
Q5JTC6 APC membrane recruitment protein 1 134 0.570 0.654 0.85 0.100 None 0 0
Entrez Id: 359
Gene Symbol: AQP2
AQP2
P41181 aquaporin 2 Ion channel 114 0.581 0.769 2.5E-06 0.100 None 0 0
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2
P30518 arginine vasopressin receptor 2 G-protein coupled receptor 134 0.568 0.769 0.56 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF
O00192 ARVCF delta catenin family member Cellular structure 151 0.540 0.769 5.0E-11 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1228 0.319 0.846 1.00 0.100 None 1.000 1 1 2008 2008
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.100 None 0 1
Entrez Id: 7809
Gene Symbol: BSND
BSND
Q8WZ55 barttin CLCNK type accessory subunit beta 91 0.603 0.692 1.1E-10 0.100 None 0 0
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT
Q6Y288 beta 3-glucosyltransferase Enzyme 157 0.554 0.731 7.1E-17 0.100 None 0 0
Entrez Id: 23299
Gene Symbol: BICD2
BICD2
Q8TD16 BICD cargo adaptor 2 97 0.615 0.731 0.98 0.100 None 0 1