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: 738
Gene Symbol: VPS51
VPS51 		Q9UID3 VPS51 subunit of GARP complex 292 0.452 0.846 1.1E-08 0.010 None 1.000 1 0 2019 2019
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.110 None 1.000 1 0 2019 2019
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		O94805 actin like 6B Cellular structure 100 0.656 0.462 2.8E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 120534
Gene Symbol: ARL14EP
ARL14EP 		Q8N8R7 ADP ribosylation factor like GTPase 14 effector protein 11 0.861 0.192 0.38 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		P55201 bromodomain and PHD finger containing 1 51 0.686 0.385 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 31
Gene Symbol: ACACA
ACACA 		Q13085 acetyl-CoA carboxylase alpha 241 0.480 0.846 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9790
Gene Symbol: BMS1
BMS1 		Q14692 BMS1 ribosome biogenesis factor 192 0.499 0.846 1.8E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 80856
Gene Symbol: LNPK
LNPK 		Q9C0E8 lunapark, ER junction formation factor 31 0.716 0.346 6.2E-04 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		Q00839 heterogeneous nuclear ribonucleoprotein U 116 0.575 0.654 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 84720
Gene Symbol: PIGO
PIGO 		Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 87 0.636 0.615 6.1E-11 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57760
Gene Symbol: SPG16
SPG16 		spastic paraplegia 16 (complicated, X-linked recessive) 18 0.722 0.423 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		Q93008 ubiquitin specific peptidase 9 X-linked 255 0.502 0.846 1.00 0.110 None 1.000 1 0 2017 2017
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.010 None 1.000 1 0 2017 2017
Entrez Id: 22978
Gene Symbol: NT5C2
NT5C2 		P49902 5'-nucleotidase, cytosolic II Enzyme 149 0.537 0.846 2.1E-06 0.110 None 1.000 1 0 2017 2017
Entrez Id: 57176
Gene Symbol: VARS2
VARS2 		Q5ST30 valyl-tRNA synthetase 2, mitochondrial 37 0.666 0.577 5.8E-17 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18 		Q99592 zinc finger and BTB domain containing 18 Transcription factor 57 0.666 0.500 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4 		P43007 solute carrier family 1 member 4 Transporter 40 0.700 0.385 6.6E-02 0.110 None 1.000 1 0 2016 2016
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B 		Q9NW08 RNA polymerase III subunit B Enzyme 71 0.628 0.654 1.7E-23 0.110 None 1.000 1 0 2016 2016
Entrez Id: 133686
Gene Symbol: NADK2
NADK2 		Q4G0N4 NAD kinase 2, mitochondrial Kinase 42 0.691 0.346 6.5E-02 0.110 None 1.000 1 0 2016 2016
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.110 None 1.000 1 0 2015 2015
Entrez Id: 6453
Gene Symbol: ITSN1
ITSN1 		Q15811 intersectin 1 Enzyme modulator 51 0.656 0.577 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 8825
Gene Symbol: LIN7A
LIN7A 		O14910 lin-7 homolog A, crumbs cell polarity complex component Cell-cell junction 24 0.736 0.385 1.1E-07 0.010 None 1.000 1 0 2014 2014