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: 26053
Gene Symbol: AUTS2
AUTS2 		Q8WXX7 activator of transcription and developmental regulator AUTS2 36 0.569 0.846 1.00 0.110 None 1.000 0 1 2014 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 1 2017 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		Q12830 bromodomain PHD finger transcription factor 73 0.560 0.769 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 81 0.534 0.769 1.00 0.100 None 0 1
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 3
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 116 0.398 0.885 1.00 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA 		Q00577 purine rich element binding protein A Nucleic acid binding 47 0.644 0.500 0.94 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 45 0.491 0.846 1.00 0.100 None 0 1
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		P36897 transforming growth factor beta receptor 1 Kinase 20 0.451 0.885 0.85 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 57 0.489 0.769 1.00 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 76 0.460 0.808 1.00 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		O75665 OFD1 centriole and centriolar satellite protein 23 0.510 0.808 0.96 0.100 None 0 1
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 9 0.527 0.769 1.00 0.100 None 0 1
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 29 0.452 0.808 1.00 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 46 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.100 None 0 2
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		P28329 choline O-acetyltransferase Enzyme 14 0.520 0.808 5.6E-11 0.100 None 0 2
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 0 1
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		P12110 collagen type VI alpha 2 chain Receptor 23 0.599 0.692 6.5E-08 0.100 None 0 1
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		P23786 carnitine palmitoyltransferase 2 Enzyme 21 0.542 0.769 4.6E-10 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.100 None 0 5
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		Q71F56 mediator complex subunit 13L 30 0.617 0.538 1.00 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 39 0.561 0.808 1.00 0.100 None 0 1