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: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
cullin 7 0.633 0.500 2.6E-21
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 1.000 1 3 2019 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
kinesin light chain 4 0.743 0.308 1.2E-03
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 1.000 1 2 2019 2019
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
kynureninase 0.617 0.692 4.2E-18
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
obscurin like cytoskeletal adaptor 1 0.686 0.308 1.0E-25
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0521525
Disease: Short neck
Short neck
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: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Ras like without CAAX 1 0.527 0.808 0.13
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 2
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
TATA-box binding protein associated factor 1 0.581 0.808 1.00
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
T-box transcription factor 2 0.544 0.769 0.99
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
transcription factor AP-2 alpha 0.488 0.769 0.99
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 4
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 0.534 0.769 1.00
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
nucleus accumbens associated 1 0.610 0.577 1.00
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
centrosomal protein 120 0.564 0.731 4.1E-15
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
spermatogenesis associated 5 0.670 0.654 9.1E-20
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256
transmembrane protein 256 0.861 0.154 6.1E-04
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
HRas proto-oncogene, GTPase 0.378 0.885 8.0E-02
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 0 1