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: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 141 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
P98161 polycystin 1, transient receptor potential channel interacting 217 0.493 0.769 1.00 0.100 None 0 1
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 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: 6442
Gene Symbol: SGCA
SGCA
Q16586 sarcoglycan alpha Calcium-binding protein 111 0.592 0.654 2.7E-03 0.100 None 0 0
Entrez Id: 6445
Gene Symbol: SGCG
SGCG
Q13326 sarcoglycan gamma Cellular structure 93 0.621 0.615 4.8E-05 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
A4D126 CDP-L-ribitol pyrophosphorylase A 134 0.566 0.654 2.5E-04 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0
Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
Q9BTV4 transmembrane protein 43 78 0.653 0.462 1.2E-12 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.100 None 0 0
Entrez Id: 4556
Gene Symbol: TRNE
TRNE
tRNA 83 0.647 0.692 0.100 None 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.100 None 0 0
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
P35523 chloride voltage-gated channel 1 Ion channel 67 0.641 0.423 3.3E-20 0.100 None 0 1
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
P12110 collagen type VI alpha 2 chain Receptor 124 0.599 0.692 6.5E-08 0.100 None 0 0
Entrez Id: 2010
Gene Symbol: EMD
EMD
P50402 emerin 163 0.542 0.731 0.93 0.100 None 0 0
Entrez Id: 203859
Gene Symbol: ANO5
ANO5
Q75V66 anoctamin 5 110 0.619 0.538 2.9E-22 0.100 None 0 1
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: 23224
Gene Symbol: SYNE2
SYNE2
Q8WXH0 spectrin repeat containing nuclear envelope protein 2 91 0.623 0.692 1.7E-25 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 0