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: 8621
Gene Symbol: CDK13
CDK13
cyclin dependent kinase 13 0.606 0.692 0.91
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
UTP23 small subunit processome component 0.711 0.385 8.6E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
transcription factor AP-2 beta 0.570 0.769 0.99
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
fibroblast growth factor 14 0.619 0.692 0.91
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
DEAD-box helicase 3 X-linked 0.537 0.769 1.00
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype 0.100 None 0 1