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: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 1.000 2 1 2006 2006
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 1.000 1 1 1998 1998
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 1
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.527 0.769 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
ATPase copper transporting alpha 0.494 0.769 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
BCL6 corepressor 0.471 0.808 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 55697
Gene Symbol: VAC14
VAC14
VAC14 component of PIKFYVE complex 0.588 0.731 0.19
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
protein kinase cGMP-dependent 1 0.603 0.769 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0