Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 9820
Gene Symbol: CUL7
CUL7
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 89953
Gene Symbol: KLC4
KLC4
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019

Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR

Entrez Id: 2312
Gene Symbol: FLG
FLG
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 6909
Gene Symbol: TBX2
TBX2
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 6872
Gene Symbol: TAF1
TAF1
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR

Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR

Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256
CUI: C0521525
Disease: Short neck
Short neck
0.100 GeneticVariation CLINVAR

Entrez Id: 112939
Gene Symbol: NACC1
NACC1
CUI: C0521525
Disease: Short neck
Short neck
0.100 CausalMutation CLINVAR