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: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
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: 5594
Gene Symbol: MAPK1
MAPK1
mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 2
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
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: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 1
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
atrophin 1 0.409 0.885 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3
SMAD family member 3 0.415 0.923 0.80
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
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: 3643
Gene Symbol: INSR
INSR
insulin receptor 0.432 0.846 3.6E-05
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
T-box transcription factor 1 0.433 0.808 0.84
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2
transforming growth factor beta 2 0.433 0.885 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
notch receptor 3 0.435 0.808 0.41
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2
RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A
Wnt family member 5A 0.443 0.808 0.99
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 1
Entrez Id: 4015
Gene Symbol: LOX
LOX
lysyl oxidase 0.447 0.846 0.99
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype 0.100 None 0 0