Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CDKN1A interacting zinc finger protein 1 0.617 0.500 6.3E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 38 1 1983 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
DNA methyltransferase 3 alpha 0.445 0.846 7.4E-39
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 36 1 1989 2018
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 34 1 1985 2016
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 30 1 1996 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 29 1 1980 2017
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
SET domain containing 5 0.560 0.731 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.120 None 1.000 26 1 1995 2018
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 25 1 2000 2018
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 24 1 1976 2017
Entrez Id: 1213
Gene Symbol: CLTC
CLTC
clathrin heavy chain 0.558 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 23 1 1976 2017
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2
peptidyl-tRNA hydrolase 2 0.641 0.577 6.4E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 23 1 1976 2017
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3
dedicator of cytokinesis 3 0.619 0.692 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 23 1 2000 2018
Entrez Id: 111
Gene Symbol: ADCY5
ADCY5
adenylate cyclase 5 0.617 0.577 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 22 1 1992 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
spastin 0.579 0.577 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 21 1 1999 2016
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12
thyroid hormone receptor interactor 12 0.678 0.462 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 21 1 1998 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 21 1 1991 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 20 1 1957 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 20 1 1992 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 19 1 1997 2014
Entrez Id: 2033
Gene Symbol: EP300
EP300
E1A binding protein p300 0.459 0.846 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 19 1 1963 2016
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
bromodomain PHD finger transcription factor 0.560 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 19 1 1995 2017
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 19 1 1997 2014
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 19 1 1999 2019
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
synaptotagmin 1 0.412 0.846 0.60
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 18 1 1994 2016
Entrez Id: 5455
Gene Symbol: POU3F3
POU3F3
POU class 3 homeobox 3 0.682 0.615 0.88
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 18 1 1989 2017
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 18 1 1998 2018