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: 134359
Gene Symbol: POC5
POC5
Q8NA72 POC5 centriolar protein 16 0.780 0.308 1.2E-07 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5827
Gene Symbol: PXMP2
PXMP2
Q9NR77 peroxisomal membrane protein 2 Receptor 16 0.743 0.192 9.2E-03 0.010 None 1.000 1 0 2007 2007
Entrez Id: 1319
Gene Symbol: CORD1
CORD1
cone rod dystrophy 1 (autosomal dominant) 19 0.722 0.423 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7908
Gene Symbol: EOS
EOS
eosinophilia, familial 36 0.666 0.538 0.030 None 1.000 3 0 2017 2019
Entrez Id: 6911
Gene Symbol: TBX6
TBX6
O95947 T-box transcription factor 6 Transcription factor 52 0.659 0.385 6.8E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 92667
Gene Symbol: MGME1
MGME1
Q9BQP7 mitochondrial genome maintenance exonuclease 1 52 0.695 0.423 1.8E-03 0.100 None 0 0
Entrez Id: 10344
Gene Symbol: CCL26
CCL26
Q9Y258 C-C motif chemokine ligand 26 Signaling 60 0.617 0.654 1.0E-02 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54796
Gene Symbol: BNC2
BNC2
Q6ZN30 basonuclin 2 Nucleic acid binding 72 0.612 0.615 0.93 0.010 None 1.000 1 0 2017 2017
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 83 0.593 0.615 0.020 None 1.000 2 0 2018 2019
Entrez Id: 574031
Gene Symbol: MIR363
MIR363
microRNA 363 83 0.578 0.692 0.010 None 1.000 1 0 2019 2019
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
Q8N9I0 synaptotagmin 2 Transporter 94 0.647 0.538 0.98 0.100 None 0 0
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 0.100 None 0 0
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
Q96L58 beta-1,3-galactosyltransferase 6 100 0.631 0.615 2.3E-02 0.010 None 1.000 1 0 2013 2013
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 103 0.578 0.692 0.040 None 1.000 4 0 2018 2019
Entrez Id: 8826
Gene Symbol: IQGAP1
IQGAP1
P46940 IQ motif containing GTPase activating protein 1 Enzyme modulator 109 0.560 0.692 1.00 0.010 None 1.000 1 0 2001 2001
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
Q16572 solute carrier family 18 member A3 Transporter 117 0.608 0.654 0.45 0.100 None 0 0
Entrez Id: 10020
Gene Symbol: GNE
GNE
Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 118 0.610 0.692 2.5E-16 0.100 None 0 0
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
O15068 MCF.2 cell line derived transforming sequence like Signaling 124 0.559 0.769 2.7E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
O00468 agrin 124 0.626 0.538 5.5E-07 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: 60482
Gene Symbol: SLC5A7
SLC5A7
Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 0.100 None 0 0
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
P05997 collagen type V alpha 2 chain 139 0.568 0.731 1.00 0.100 None 0 1
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
Q5TAT6 collagen type XIII alpha 1 chain 139 0.608 0.654 3.7E-14 0.100 None 0 0
Entrez Id: 8740
Gene Symbol: TNFSF14
TNFSF14
O43557 TNF superfamily member 14 Signaling 143 0.529 0.769 5.2E-02 0.010 None 1.000 1 0 2018 2018