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: 23363
Gene Symbol: OBSL1
OBSL1 		O75147 obscurin like cytoskeletal adaptor 1 16 0.686 0.308 1.0E-25 0.100 None 1.000 1 2 2019 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 9820
Gene Symbol: CUL7
CUL7 		Q14999 cullin 7 23 0.633 0.500 2.6E-21 0.100 None 1.000 1 1 2019 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4 		Q9NSK0 kinesin light chain 4 21 0.743 0.308 1.2E-03 0.100 None 1.000 1 1 2019 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 54 0.505 0.769 1.00 0.100 None 1.000 1 2 2016 2016
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: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 59 0.584 0.577 1.00 0.100 None 0 1
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		P21675 TATA-box binding protein associated factor 1 Kinase 18 0.581 0.808 1.00 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		Q09428 ATP binding cassette subfamily C member 8 Transporter 32 0.474 0.846 8.0E-24 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: 4784
Gene Symbol: NFIX
NFIX 		Q14938 nuclear factor I X Nucleic acid binding 23 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		O60315 zinc finger E-box binding homeobox 2 Transcription factor 36 0.471 0.808 1.00 0.100 None 0 1