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: 57187
Gene Symbol: THOC2
THOC2
THO complex 2 0.650 0.538 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 4528
Gene Symbol: MTIF2
MTIF2
mitochondrial translational initiation factor 2 1.000 3.7E-10
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
transmembrane protein 138 0.656 0.385 4.7E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
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: 84295
Gene Symbol: PHF6
PHF6
PHD finger protein 6 0.581 0.692 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1962 2016
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1962 2011
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: 1387
Gene Symbol: CREBBP
CREBBP
CREB binding protein 0.428 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 18 4 1963 2017
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1966 2013
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1966 2013
Entrez Id: 4763
Gene Symbol: NF1
NF1
neurofibromin 1 0.440 0.885 0.90
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 34 5 1967 2017
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 12 1 1967 2017
Entrez Id: 23111
Gene Symbol: SPART
SPART
spartin 0.588 0.654 3.0E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 1 1967 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 20 7 1968 2016
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 8 1968 2013
Entrez Id: 8241
Gene Symbol: RBM10
RBM10
RNA binding motif protein 10 0.599 0.615 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 2 1970 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
mediator complex subunit 13L 0.617 0.538 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 16 7 1971 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 12 2 1973 2013
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 17 1 1975 2012
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: 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: 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