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: 55157
Gene Symbol: DARS2
DARS2 		Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 0
Entrez Id: 1938
Gene Symbol: EEF2
EEF2 		P13639 eukaryotic translation elongation factor 2 Enzyme 83 0.599 0.731 1.00 0.100 None 0 0
Entrez Id: 1960
Gene Symbol: EGR3
EGR3 		Q06889 early growth response 3 Nucleic acid binding 78 0.599 0.731 0.95 0.300 None 1.000 1 0 2005 2005
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		Q92915 fibroblast growth factor 14 Signaling 90 0.619 0.692 0.91 0.100 None 0 0
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1 		P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 123 0.563 0.577 0.91 0.300 None 1.000 1 0 2002 2002
Entrez Id: 2557
Gene Symbol: GABRA4
GABRA4 		P48169 gamma-aminobutyric acid type A receptor subunit alpha4 Ion channel 22 0.751 0.308 0.78 0.300 None 1.000 1 0 2005 2005
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 2895
Gene Symbol: GRID2
GRID2 		O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 50 0.670 0.500 1.00 0.100 None 0 0
Entrez Id: 3035
Gene Symbol: HARS1
HARS1 		P12081 histidyl-tRNA synthetase 1 Enzyme 127 0.569 0.808 2.4E-06 0.100 None 0 0
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 157 0.564 0.654 1.00 0.300 None 1.000 1 0 2009 2009
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH 		Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 60 0.700 0.500 2.6E-13 0.100 None 0 0
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 185 0.534 0.846 1.00 0.100 None 0 0
Entrez Id: 3752
Gene Symbol: KCND3
KCND3 		Q9UK17 potassium voltage-gated channel subfamily D member 3 Ion channel 94 0.619 0.615 0.99 0.100 None 0 0
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 68 0.650 0.423 6.3E-04 0.100 None 0 0
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: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1
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 2
Entrez Id: 339983
Gene Symbol: NAT8L
NAT8L 		Q8N9F0 N-acetyltransferase 8 like 32 0.722 0.346 0.86 0.100 None 0 0
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2 		Q9C056 NK6 homeobox 2 Transcription factor 47 0.695 0.500 2.9E-02 0.100 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56 		O00567 NOP56 ribonucleoprotein Nucleic acid binding 64 0.663 0.538 0.62 0.100 None 0 0
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.300 None 1.000 1 0 2011 2011
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		O60683 peroxisomal biogenesis factor 10 141 0.584 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.100 None 0 0