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: 7343
Gene Symbol: UBTF
UBTF 		P17480 upstream binding transcription factor 13 0.705 0.462 1.00 0.400 limited 1.000 0 1 2017 2017
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 6 2007 2018
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 24 0.650 0.423 6.3E-04 0.110 None 1.000 0 2 2018 2018
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		P06865 hexosaminidase subunit alpha Enzyme 26 0.633 0.615 1.3E-11 0.100 None 1.000 5 15 1992 2014
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		O75398 DEAF1 transcription factor 38 0.575 0.615 3.4E-04 0.100 None 1.000 2 2 2017 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		P62873 G protein subunit beta 1 Enzyme 34 0.617 0.731 1.00 0.100 None 1.000 1 2 2016 2016
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: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.100 None 0 2
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 107 0.305 0.923 0.26 0.100 None 0 1
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 3
Entrez Id: 6448
Gene Symbol: SGSH
SGSH 		P51688 N-sulfoglucosamine sulfohydrolase Enzyme 24 0.638 0.692 1.0E-04 0.100 None 0 3
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 10 0.656 0.269 3.5E-02 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 125 0.319 0.846 1.00 0.100 None 0 1
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 37 0.522 0.692 1.00 0.100 None 0 1
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		Q7L5A8 fatty acid 2-hydroxylase Enzyme 15 0.573 0.654 0.15 0.100 None 0 1
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB 		Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 30 0.592 0.731 7.7E-19 0.100 None 0 4
Entrez Id: 80155
Gene Symbol: NAA15
NAA15 		Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 16 0.700 0.423 1.00 0.100 None 0 1
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 49 0.476 0.846 2.5E-10 0.100 None 0 2
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		Q14004 cyclin dependent kinase 13 Kinase 100 0.606 0.692 0.91 0.100 None 0 1
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		Q08209 protein phosphatase 3 catalytic subunit alpha 31 0.568 0.769 1.00 0.100 None 0 1
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		Q9NWW5 CLN6 transmembrane ER protein 5 0.670 0.231 1.0E-04 0.100 None 0 1
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		P54802 N-acetyl-alpha-glucosaminidase 32 0.546 0.769 1.4E-08 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		O14773 tripeptidyl peptidase 1 Enzyme 27 0.551 0.808 6.3E-07 0.100 None 0 6