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: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1
TMX2-CTNND1 readthrough (NMD candidate) 138 0.538 0.769 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.010 None 1.000 1 0 2003 2003
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4397
Gene Symbol: MS
MS
multiple sclerosis 95 0.599 0.692 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4434
Gene Symbol: MSD
MSD
microcephaly with spastic diplegia (Paine syndrome) 35 0.674 0.654 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5662
Gene Symbol: PSD
PSD
A5PKW4 pleckstrin and Sec7 domain containing 59 0.626 0.654 0.90 0.010 None 1.000 1 0 2019 2019
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1
A8MTZ0 BBSome interacting protein 1 37 0.695 0.423 4.2E-03 0.100 None 0 0
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
O00462 mannosidase beta Enzyme 38 0.736 0.462 1.3E-18 0.100 None 0 0
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
O14497 AT-rich interaction domain 1A 341 0.455 0.846 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 9987
Gene Symbol: HNRNPDL
HNRNPDL
O14979 heterogeneous nuclear ribonucleoprotein D like 82 0.597 0.654 7.8E-02 0.010 None 1.000 1 0 2017 2017
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
O15409 forkhead box P2 165 0.545 0.808 1.00 0.100 None 1.000 15 0 2002 2019
Entrez Id: 2895
Gene Symbol: GRID2
GRID2
O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 50 0.670 0.500 1.00 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.100 None 0 0
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
O43451 maltase-glucoamylase Enzyme 95 0.592 0.615 1.0E-35 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.100 None 0 0
Entrez Id: 7305
Gene Symbol: TYROBP
TYROBP
O43914 transmembrane immune signaling adaptor TYROBP 135 0.573 0.769 0.20 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 0 0
Entrez Id: 27286
Gene Symbol: SRPX2
SRPX2
O60687 sushi repeat containing protein X-linked 2 80 0.621 0.462 4.8E-02 0.010 None 1.000 1 0 2008 2008
Entrez Id: 1500
Gene Symbol: CTNND1
CTNND1
O60716 catenin delta 1 Cellular structure 196 0.500 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
O60826 coiled-coil domain containing 22 99 0.595 0.692 1.00 0.100 None 0 0
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
O75027 ATP binding cassette subfamily B member 7 Transporter 49 0.678 0.385 1.00 0.100 None 0 0