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: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
Q6ICL3 transport and golgi organization 2 homolog 83 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
Q9UMN6 lysine methyltransferase 2B 193 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 6443
Gene Symbol: SGCB
SGCB
Q16585 sarcoglycan beta 64 0.656 0.346 9.6E-07 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 224 0.529 0.769 8.1E-07 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 5813
Gene Symbol: PURA
PURA
Q00577 purine rich element binding protein A Nucleic acid binding 83 0.644 0.500 0.94 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: 57731
Gene Symbol: SPTBN4
SPTBN4
Q9H254 spectrin beta, non-erythrocytic 4 35 0.686 0.462 1.00 0.100 None 0 0
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 136 0.593 0.654 1.00 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 123 0.568 0.731 0.99 0.100 None 0 0
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
P48029 solute carrier family 6 member 8 Transporter 274 0.476 0.846 1.00 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2
O94777 dolichyl-phosphate mannosyltransferase subunit 2, regulatory 63 0.666 0.500 0.32 0.100 None 0 0
Entrez Id: 84340
Gene Symbol: GFM2
GFM2
Q969S9 G elongation factor mitochondrial 2 Enzyme 29 0.736 0.269 1.5E-18 0.100 None 0 0
Entrez Id: 7317
Gene Symbol: UBA1
UBA1
P22314 ubiquitin like modifier activating enzyme 1 Enzyme 62 0.666 0.615 1.00 0.100 None 0 0
Entrez Id: 7170
Gene Symbol: TPM3
TPM3
P06753 tropomyosin 3 Cellular structure 297 0.490 0.808 6.7E-03 0.100 None 0 0
Entrez Id: 7169
Gene Symbol: TPM2
TPM2
P07951 tropomyosin 2 Cellular structure 228 0.530 0.654 2.4E-04 0.100 None 0 0
Entrez Id: 6901
Gene Symbol: TAZ
TAZ
Q16635 tafazzin Enzyme 252 0.477 0.808 0.73 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 6536
Gene Symbol: SLC6A9
SLC6A9
P48067 solute carrier family 6 member 9 Transporter 71 0.641 0.500 2.2E-05 0.100 None 0 0
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 3
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
Q9BUK6 misato mitochondrial distribution and morphology regulator 1 124 0.582 0.692 1.6E-09 0.100 None 0 0
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
Q2TAL8 glutamine rich 1 Enzyme modulator 60 0.716 0.423 1.00 0.100 None 0 1
Entrez Id: 29967
Gene Symbol: LRP12
LRP12
Q9Y561 LDL receptor related protein 12 Enzyme 37 0.743 0.462 1.00 0.100 None 0 0