Source: CLINVAR ×
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: 859
Gene Symbol: CAV3
CAV3 		P56539 caveolin 3 Enzyme modulator 8 0.564 0.692 5.5E-03 0.700 None 1.000 0 3 2000 2005
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 51 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		Q75V66 anoctamin 5 13 0.619 0.538 2.9E-22 0.100 None 0 4
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1 		Q9BUK6 misato mitochondrial distribution and morphology regulator 1 15 0.582 0.692 1.6E-09 0.100 None 0 2
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 44 0.554 0.731 1.3E-02 0.100 None 0 1
Entrez Id: 6442
Gene Symbol: SGCA
SGCA 		Q16586 sarcoglycan alpha Calcium-binding protein 5 0.592 0.654 2.7E-03 0.100 None 0 1
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		Q13586 stromal interaction molecule 1 27 0.501 0.808 0.78 0.100 None 0 1
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 36 0.513 0.731 9.8E-06 0.100 None 0 2
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3 		P20807 calpain 3 Enzyme 34 0.564 0.615 3.6E-19 0.100 None 0 3
Entrez Id: 8291
Gene Symbol: DYSF
DYSF 		O75923 dysferlin Transporter 18 0.582 0.692 3.7E-33 0.100 None 0 5
Entrez Id: 8557
Gene Symbol: TCAP
TCAP 		O15273 titin-cap 6 0.682 0.538 0.19 0.100 None 0 1
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		Q8TB36 ganglioside induced differentiation associated protein 1 12 0.612 0.538 3.2E-08 0.100 None 0 1
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		P98161 polycystin 1, transient receptor potential channel interacting 27 0.493 0.769 1.00 0.100 None 0 1
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 35 0.423 0.923 1.00 0.100 None 0 8
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32 		Q13049 tripartite motif containing 32 6 0.587 0.769 1.7E-03 0.100 None 0 1
Entrez Id: 23245
Gene Symbol: ASTN2
ASTN2 		O75129 astrotactin 2 6 0.666 0.462 1.00 0.100 None 0 1
Entrez Id: 2548
Gene Symbol: GAA
GAA 		P10253 glucosidase alpha, acid Enzyme 18 0.631 0.577 2.8E-18 0.100 None 0 1
Entrez Id: 26092
Gene Symbol: TOR1AIP1
TOR1AIP1 		Q5JTV8 torsin 1A interacting protein 1 13 0.729 0.346 1.3E-09 0.100 None 0 1
Entrez Id: 285489
Gene Symbol: DOK7
DOK7 		Q18PE1 docking protein 7 7 0.615 0.615 1.0E-04 0.100 None 0 2
Entrez Id: 29888
Gene Symbol: STRN4
STRN4 		Q9NRL3 striatin 4 22 0.792 0.346 0.99 0.100 None 0 1
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		Q9Y5P6 GDP-mannose pyrophosphorylase B 12 0.578 0.538 8.4E-07 0.100 None 0 1
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		P24043 laminin subunit alpha 2 Enzyme modulator 19 0.553 0.692 2.4E-47 0.100 None 0 2
Entrez Id: 51066
Gene Symbol: SSUH2
SSUH2 		Q9Y2M2 ssu-2 homolog 5 0.821 0.231 4.0E-10 0.100 None 0 3