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: 1497
Gene Symbol: CTNS
CTNS
O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.100 None 0 0
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
Q96NL8 chromosome 8 open reading frame 37 86 0.628 0.538 2.4E-05 0.100 None 0 0
Entrez Id: 1610
Gene Symbol: DAO
DAO
P14920 D-amino acid oxidase 78 0.636 0.615 6.2E-22 0.100 None 0 0
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
Q6ZW61 Bardet-Biedl syndrome 12 49 0.674 0.462 2.3E-07 0.100 None 0 0
Entrez Id: 1674
Gene Symbol: DES
DES
P17661 desmin 330 0.460 0.846 8.8E-03 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0 0
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
Q96LT7 C9orf72-SMCR8 complex subunit 258 0.496 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 203547
Gene Symbol: VMA21
VMA21
Q3ZAQ7 vacuolar ATPase assembly factor VMA21 17 0.821 0.231 0.57 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
Q13642 four and a half LIM domains 1 195 0.532 0.731 0.97 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: 23025
Gene Symbol: UNC13A
UNC13A
Q9UPW8 unc-13 homolog A 41 0.705 0.423 1.00 0.100 None 0 0
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1
Q9Y4D7 plexin D1 73 0.647 0.577 1.00 0.100 None 0 0
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
P21333 filamin A 571 0.419 0.846 1.00 0.100 None 0 0
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
Q96RL7 vacuolar protein sorting 13 homolog A 104 0.650 0.577 9.3E-22 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
Entrez Id: 23347
Gene Symbol: SMCHD1
SMCHD1
A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 80 0.631 0.615 1.00 0.100 None 0 0
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
Q13148 TAR DNA binding protein 245 0.493 0.808 0.99 0.100 None 0 0
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
Q9Y2U8 LEM domain containing 3 112 0.582 0.731 1.00 0.100 None 0 0
Entrez Id: 246243
Gene Symbol: RNASEH1
RNASEH1
O60930 ribonuclease H1 52 0.711 0.462 1.1E-02 0.100 None 0 0
Entrez Id: 246329
Gene Symbol: STAC3
STAC3
Q96MF2 SH3 and cysteine rich domain 3 69 0.633 0.654 1.7E-04 0.100 None 0 0
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1
Q00973 beta-1,4-N-acetyl-galactosaminyltransferase 1 67 0.644 0.615 3.9E-05 0.100 None 0 0
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
Q9UQN3 charged multivesicular body protein 2B 177 0.543 0.731 4.6E-06 0.100 None 0 0
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
Q9UKA2 F-box and leucine rich repeat protein 4 55 0.695 0.423 1.1E-08 0.100 None 0 0
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.100 None 0 0