Source: ALL

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: 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: 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: 5925
Gene Symbol: RB1
RB1 		RB transcriptional corepressor 1 0.444 0.885 1.00
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0521525
Disease: Short neck
Short neck 		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: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 1
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
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: 5894
Gene Symbol: RAF1
RAF1 		Raf-1 proto-oncogene, serine/threonine kinase 0.418 0.885 0.85
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		RAD21 cohesin complex component 0.528 0.846 1.00
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0521525
Disease: Short neck
Short neck 		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: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2 		NK3 homeobox 2 0.736 0.308 0.64
CUI: C0521525
Disease: Short neck
Short neck 		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: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 1
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 6223
Gene Symbol: RPS19
RPS19 		ribosomal protein S19 0.480 0.846 0.92
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 6239
Gene Symbol: RREB1
RREB1 		ras responsive element binding protein 1 0.500 0.808 1.00
CUI: C0521525
Disease: Short neck
Short neck 		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: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 1
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 6655
Gene Symbol: SOS2
SOS2 		SOS Ras/Rho guanine nucleotide exchange factor 2 0.608 0.692 1.00
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0