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: 51412
Gene Symbol: ACTL6B
ACTL6B
O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 0.100 None 0 0
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
Q05193 dynamin 1 Enzyme modulator 114 0.595 0.692 1.00 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 0 0
Entrez Id: 84342
Gene Symbol: COG8
COG8
Q96MW5 component of oligomeric golgi complex 8 63 0.653 0.500 3.0E-09 0.100 None 0 0
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3
O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 84 0.604 0.462 0.80 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 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 0
Entrez Id: 79731
Gene Symbol: NARS2
NARS2
Q96I59 asparaginyl-tRNA synthetase 2, mitochondrial Enzyme 57 0.650 0.577 7.1E-08 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 0
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
Q86YT5 solute carrier family 13 member 5 Transporter 106 0.608 0.577 5.1E-04 0.100 None 0 0
Entrez Id: 79587
Gene Symbol: CARS2
CARS2
Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 49 0.700 0.423 9.6E-08 0.100 None 0 0
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B
Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 79 0.650 0.577 1.00 0.100 None 0 0
Entrez Id: 777
Gene Symbol: CACNA1E
CACNA1E
Q15878 calcium voltage-gated channel subunit alpha1 E Ion channel 63 0.650 0.577 1.00 0.100 None 0 0
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 54 0.653 0.231 3.1E-02 0.100 None 0 0
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3
P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 127 0.566 0.692 1.00 0.100 None 0 0
Entrez Id: 340533
Gene Symbol: NEXMIF
NEXMIF
Q5QGS0 neurite extension and migration factor 66 0.659 0.385 1.00 0.100 None 0 0
Entrez Id: 790
Gene Symbol: CAD
CAD
P27708 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Enzyme 249 0.482 0.846 1.00 0.100 None 0 0
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D
O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 82 0.650 0.538 1.00 0.100 None 0 0
Entrez Id: 3052
Gene Symbol: HCCS
HCCS
P53701 holocytochrome c synthase Enzyme 135 0.559 0.731 0.89 0.100 None 0 0
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS
Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 308 0.468 0.885 0.25 0.100 None 0 0
Entrez Id: 80704
Gene Symbol: SLC19A3
SLC19A3
Q9BZV2 solute carrier family 19 member 3 Transporter 112 0.610 0.692 0.10 0.100 None 0 0
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 89 0.619 0.500 0.85 0.100 None 0 1
Entrez Id: 2563
Gene Symbol: GABRD
GABRD
O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 154 0.558 0.692 0.99 0.100 None 0 0
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 169 0.548 0.654 0.74 0.100 None 0 0
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.100 None 0 2