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: 9488
Gene Symbol: PIGB
PIGB
Q92521 phosphatidylinositol glycan anchor biosynthesis class B Enzyme 12 0.839 0.038 3.9E-11 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 1913
Gene Symbol: EEC1
EEC1
ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 26 0.691 0.538 0.010 None 1.000 1 0 1993 1993
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 27 0.736 0.423 1.00 0.100 None 0 0
Entrez Id: 6602
Gene Symbol: SMARCD1
SMARCD1
Q96GM5 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 Nucleic acid binding 29 0.695 0.385 1.00 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2
O15270 serine palmitoyltransferase long chain base subunit 2 Enzyme 29 0.736 0.346 0.78 0.100 None 0 0
Entrez Id: 8565
Gene Symbol: YARS1
YARS1
P54577 tyrosyl-tRNA synthetase 1 Enzyme 30 0.705 0.500 1.0E-03 0.100 None 0 0
Entrez Id: 65082
Gene Symbol: VPS33A
VPS33A
Q96AX1 VPS33A core subunit of CORVET and HOPS complexes Transporter 45 0.695 0.538 0.18 0.100 None 0 0
Entrez Id: 22948
Gene Symbol: CCT5
CCT5
P48643 chaperonin containing TCP1 subunit 5 Chaperone 50 0.663 0.462 1.00 0.100 None 0 0
Entrez Id: 23529
Gene Symbol: CLCF1
CLCF1
Q9UBD9 cardiotrophin like cytokine factor 1 54 0.670 0.462 0.95 0.100 None 0 0
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
Q12873 chromodomain helicase DNA binding protein 3 55 0.670 0.577 1.00 0.100 None 0 0
Entrez Id: 7390
Gene Symbol: UROS
UROS
P10746 uroporphyrinogen III synthase Enzyme 58 0.678 0.462 3.2E-02 0.100 None 0 0
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
O60318 minichromosome maintenance complex component 3 associated protein 58 0.647 0.654 5.2E-09 0.100 None 0 0
Entrez Id: 79784
Gene Symbol: MYH14
MYH14
Q7Z406 myosin heavy chain 14 64 0.663 0.577 4.2E-02 0.100 None 0 0
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
Q9UGU0 transcription factor 20 Transcription factor 78 0.644 0.423 1.00 0.100 None 0 0
Entrez Id: 7443
Gene Symbol: VRK1
VRK1
Q99986 VRK serine/threonine kinase 1 Kinase 79 0.621 0.615 2.1E-03 0.100 None 0 0
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
Q9NVI7 ATPase family AAA domain containing 3A Enzyme 81 0.628 0.692 4.1E-09 0.100 None 0 0
Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3
Q9NQT5 exosome component 3 Enzyme 84 0.610 0.692 2.4E-04 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 2
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1
Q99715 collagen type XII alpha 1 chain Receptor 93 0.615 0.692 0.97 0.010 None 1.000 1 0 2018 2018
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
Q8N9I0 synaptotagmin 2 Transporter 94 0.647 0.538 0.98 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
B2RTY4 myosin IXA 95 0.647 0.500 0.49 0.100 None 0 0
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1723
Gene Symbol: DHODH
DHODH
Q02127 dihydroorotate dehydrogenase (quinone) Enzyme 100 0.576 0.769 3.0E-03 0.100 None 0 0
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.100 None 0 1
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
Q96RL7 vacuolar protein sorting 13 homolog A 104 0.650 0.577 9.3E-22 0.100 None 0 0