Source: CLINVAR ×
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: 2643
Gene Symbol: GCH1
GCH1 		P30793 GTP cyclohydrolase 1 Enzyme 13 0.511 0.846 0.90 0.700 None 0.982 0 2 1991 2019
Entrez Id: 7054
Gene Symbol: TH
TH 		P07101 tyrosine hydroxylase 3 0.462 0.885 1.7E-06 0.500 None 1.000 17 6 1989 2019
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		O14656 torsin family 1 member A Chaperone 3 0.566 0.731 5.1E-04 0.500 None 0.973 2 1 1991 2019
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		P04350 tubulin beta 4A class IVa Cellular structure 21 0.608 0.615 0.11 0.500 None 1.000 1 1 2011 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 44 0.544 0.615 1.00 0.500 None 1.000 0 2 1999 2016
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		Q9UMN6 lysine methyltransferase 2B 70 0.529 0.808 1.00 0.500 None 1.000 0 1 2016 2019
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		Q9BZ23 pantothenate kinase 2 Kinase 12 0.559 0.808 7.4E-07 0.500 strong 1.000 0 1 2001 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 34 0.388 0.808 0.99 0.450 None 1.000 0 1 2000 2018
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		Q7L5A8 fatty acid 2-hydroxylase Enzyme 15 0.573 0.654 0.15 0.430 None 1.000 0 1 2008 2019
Entrez Id: 2639
Gene Symbol: GCDH
GCDH 		Q92947 glutaryl-CoA dehydrogenase 8 0.691 0.385 4.9E-03 0.430 None 1.000 0 1 1995 2015
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		P52746 zinc finger protein 142 Transcription factor 5 0.861 0.192 4.8E-16 0.410 strong 1.000 1 3 2019 2019
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17 		Q5H9S7 DDB1 and CUL4 associated factor 17 5 0.653 0.577 3.7E-07 0.410 None 0.500 1 1 2010 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		P49768 presenilin 1 Enzyme 41 0.469 0.846 0.97 0.410 None 1.000 1 1 2012 2017
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12 		Q9NSK7 chromosome 19 open reading frame 12 12 0.641 0.615 0.34 0.410 strong 1.000 0 2 2013 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 46 0.522 0.692 0.94 0.400 None 1.000 0 1 2017 2017
Entrez Id: 4541
Gene Symbol: ND6
ND6 		P03923 NADH dehydrogenase, subunit 6 (complex I) 11 0.544 0.808 0.180 None 1.000 1 1 1994 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.130 None 1.000 0 1 2008 2011
Entrez Id: 6697
Gene Symbol: SPR
SPR 		P35270 sepiapterin reductase 2 0.631 0.654 4.3E-02 0.100 None 1.000 6 2 2001 2013
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		TSPEAR antisense RNA 1 15 0.821 0.269 0.100 None 1.000 1 1 2016 2016
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		Q8WU66 thrombospondin type laminin G domain and EAR repeats 15 0.736 0.385 2.4E-17 0.100 None 1.000 1 2 2016 2016
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12 		Q9NPG4 protocadherin 12 5 0.722 0.346 2.9E-13 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		P04080 cystatin B Enzyme modulator 20 0.530 0.692 6.6E-03 0.100 None 0 1
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 13 0.538 0.808 1.00 0.100 None 0 1
Entrez Id: 814
Gene Symbol: CAMK4
CAMK4 		Q16566 calcium/calmodulin dependent protein kinase IV Kinase 6 0.621 0.654 0.51 0.100 None 0 1
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		P30084 enoyl-CoA hydratase, short chain 1 Enzyme 10 0.601 0.654 8.8E-04 0.100 None 0 2