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: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.310 None 1.000 2 0 2009 2012
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
Q7Z3B3 KAT8 regulatory NSL complex subunit 1 140 0.592 0.731 1.00 0.300 None 1.000 2 0 2012 2012
Entrez Id: 113189
Gene Symbol: CHST14
CHST14
Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 89 0.638 0.654 0.45 0.300 None 1.000 1 0 2010 2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT
P80404 4-aminobutyrate aminotransferase Enzyme 127 0.628 0.538 6.3E-03 0.300 None 1.000 1 0 1999 1999
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.300 None 1.000 1 0 2009 2009
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 188 0.545 0.692 1.2E-06 0.300 None 1.000 1 0 2004 2004
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.120 None 1.000 2 0 2009 2019
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.110 None 1.000 1 0 2018 2018
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.110 None 1.000 1 0 2019 2019
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
P51659 hydroxysteroid 17-beta dehydrogenase 4 141 0.546 0.654 2.4E-10 0.110 None 1.000 1 0 2001 2001
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.110 None 1.000 1 1 2014 2014
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.110 None 1.000 1 0 2008 2008
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
Q5TGY3 AT-hook DNA binding motif containing 1 44 0.700 0.500 1.00 0.100 None 1.000 1 3 2014 2014
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: 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 11
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: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
O15265 ataxin 7 162 0.581 0.654 0.96 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 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: 6392
Gene Symbol: SDHD
SDHD
O14521 succinate dehydrogenase complex subunit D Transporter 348 0.472 0.885 0.34 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 1