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: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
P09619 platelet derived growth factor receptor beta Kinase 492 0.416 0.846 0.90 0.100 None 0 0
Entrez Id: 23384
Gene Symbol: SPECC1L
SPECC1L
Q69YQ0 sperm antigen with calponin homology and coiled-coil domains 1 like 117 0.593 0.654 0.86 0.100 None 0 0
Entrez Id: 7469
Gene Symbol: NELFA
NELFA
Q9H3P2 negative elongation factor complex member A 82 0.619 0.615 0.13 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 2
Entrez Id: 79140
Gene Symbol: CCDC28B
CCDC28B
Q9BUN5 coiled-coil domain containing 28B Receptor 55 0.659 0.538 3.2E-09 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
P56693 SRY-box transcription factor 10 334 0.461 0.808 0.99 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
Q9UM47 notch receptor 3 418 0.435 0.808 0.41 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: 324
Gene Symbol: APC
APC
P25054 APC regulator of WNT signaling pathway 703 0.373 0.962 1.00 0.100 None 0 0
Entrez Id: 6888
Gene Symbol: TALDO1
TALDO1
P37837 transaldolase 1 85 0.608 0.654 2.5E-06 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: 4286
Gene Symbol: MITF
MITF
O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
O94761 RecQ like helicase 4 Enzyme 249 0.496 0.808 3.3E-35 0.100 None 0 0
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Q13049 tripartite motif containing 32 113 0.587 0.769 1.7E-03 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 0 0
Entrez Id: 158326
Gene Symbol: FREM1
FREM1
Q5H8C1 FRAS1 related extracellular matrix 1 65 0.633 0.423 1.6E-52 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: 1723
Gene Symbol: DHODH
DHODH
Q02127 dihydroorotate dehydrogenase (quinone) Enzyme 100 0.576 0.769 3.0E-03 0.100 None 0 0
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
Q8IXQ5 kelch like family member 7 135 0.581 0.731 4.6E-05 0.100 None 0 0
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
Q9BUB7 transmembrane protein 70 83 0.636 0.654 2.9E-02 0.100 None 0 0
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB
P24530 endothelin receptor type B G-protein coupled receptor 300 0.470 0.846 9.2E-03 0.100 None 0 0
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 0 0
Entrez Id: 6591
Gene Symbol: SNAI2
SNAI2
O43623 snail family transcriptional repressor 2 189 0.505 0.692 0.80 0.100 None 0 0