Source: ALL
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: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 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 0
Entrez Id: 2395
Gene Symbol: FXN
FXN 		Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.030 None 1.000 3 1 1974 2020
Entrez Id: 3931
Gene Symbol: LCAT
LCAT 		P04180 lecithin-cholesterol acyltransferase Enzyme 94 0.588 0.654 8.1E-02 0.010 None 1.000 1 0 1976 1976
Entrez Id: 5236
Gene Symbol: PGM1
PGM1 		P36871 phosphoglucomutase 1 72 0.628 0.577 5.1E-15 0.010 None < 0.001 1 0 1982 1982
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.400 None 1.000 81 1 1986 2018
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP 		Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.100 None 1.000 64 0 1986 2018
Entrez Id: 5972
Gene Symbol: REN
REN 		P00797 renin Enzyme 721 0.370 0.923 2.4E-07 0.010 None < 0.001 1 0 1987 1987
Entrez Id: 462
Gene Symbol: SERPINC1
SERPINC1 		P01008 serpin family C member 1 Enzyme modulator 184 0.507 0.769 1.00 0.010 None 1.000 1 0 1987 1987
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		P25189 myelin protein zero 249 0.503 0.846 0.27 0.700 None 1.000 144 16 1988 2020
Entrez Id: 8731
Gene Symbol: RNMT
RNMT 		O43148 RNA guanine-7 methyltransferase 46 0.647 0.500 5.7E-05 0.100 None 1.000 62 0 1988 2018
Entrez Id: 336
Gene Symbol: APOA2
APOA2 		P02652 apolipoprotein A2 Transporter 77 0.582 0.769 4.5E-02 0.020 None 1.000 2 0 1988 1989
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.700 None 0.984 187 9 1990 2020
Entrez Id: 7824
Gene Symbol: D1S111
D1S111 		Minisatellite 33.6 2 0.931 0.115 0.010 None 1.000 1 0 1992 1992
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.700 moderate 0.987 75 11 1993 2019
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.400 None 0.992 129 5 1994 2019
Entrez Id: 1253
Gene Symbol: CMTX2
CMTX2 		Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive) 1 1.000 0.077 0.010 None 1.000 1 0 1995 1995
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.400 None 0.986 70 5 1996 2019
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		P41250 glycyl-tRNA synthetase 1 Enzyme 73 0.623 0.500 0.31 0.300 None 0.960 25 1 1996 2019
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		Q13614 myotubularin related protein 2 Enzyme 50 0.659 0.538 3.0E-07 0.300 None 1.000 23 1 1996 2019
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 205 0.527 0.769 1.00 0.040 None 1.000 4 0 1996 2018
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		Q5JU85 IQ motif and Sec7 domain ArfGEF 2 155 0.573 0.577 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 2728
Gene Symbol: GLC3B
GLC3B 		glaucoma 3, primary infantile, B 11 0.769 0.154 0.010 None 1.000 1 0 1996 1996
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.030 None 1.000 3 0 1997 2012