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: 10382
Gene Symbol: TUBB4A
TUBB4A 		P04350 tubulin beta 4A class IVa Cellular structure 21 0.608 0.615 0.11 0.100 None 1.000 1 1 2014 2014
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		Q6ICL3 transport and golgi organization 2 homolog 51 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 513
Gene Symbol: ATP5F1D
ATP5F1D 		P30049 ATP synthase F1 subunit delta Transporter 43 0.674 0.500 7.4E-02 0.100 None 1.000 1 1 2018 2018
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		Q9BYX4 interferon induced with helicase C domain 1 23 0.471 0.808 7.0E-44 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 97 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4 		P43007 solute carrier family 1 member 4 Transporter 4 0.700 0.385 6.6E-02 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		Q14683 structural maintenance of chromosomes 1A 24 0.509 0.808 1.00 0.100 None 0 2
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: 8726
Gene Symbol: EED
EED 		O75530 embryonic ectoderm development 18 0.588 0.615 1.00 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 18 0.682 0.423 1.00 0.100 None 0 2
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 76 0.595 0.769 1.00 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		Q9UJ55 MAGE family member L2 Cell adhesion 91 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 5015
Gene Symbol: OTX2
OTX2 		P32243 orthodenticle homeobox 2 Transcription factor 15 0.514 0.808 0.92 0.100 None 0 1
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245 		long intergenic non-protein coding RNA 2245 4 0.821 0.231 0.100 None 0 1
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		P24043 laminin subunit alpha 2 Enzyme modulator 19 0.553 0.692 2.4E-47 0.100 None 0 1
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 28 0.537 0.654 1.00 0.100 None 0 1
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54 		Q7Z6J9 tRNA splicing endonuclease subunit 54 9 0.659 0.500 1.8E-07 0.100 None 0 1
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 79 0.533 0.769 1.00 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		Q9UMN6 lysine methyltransferase 2B 70 0.529 0.808 1.00 0.100 None 0 1