Source: INFERRED

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: 55636
Gene Symbol: CHD7
CHD7 		chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 1
Entrez Id: 6774
Gene Symbol: STAT3
STAT3 		signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		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: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 699
Gene Symbol: BUB1
BUB1 		BUB1 mitotic checkpoint serine/threonine kinase 0.528 0.731 4.9E-09
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		BUB1 mitotic checkpoint serine/threonine kinase B 0.502 0.808 7.0E-10
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A 		Wnt family member 5A 0.443 0.808 0.99
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 0.572 0.769 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 0.450 0.885 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L 		Ski2 like RNA helicase 0.615 0.654 1.3E-22
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 65082
Gene Symbol: VPS33A
VPS33A 		VPS33A core subunit of CORVET and HOPS complexes 0.695 0.538 0.18
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE 		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 0.530 0.692 0.98
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 7841
Gene Symbol: MOGS
MOGS 		mannosyl-oligosaccharide glucosidase 0.626 0.731 5.8E-11
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12 		ALG12 alpha-1,6-mannosyltransferase 0.705 0.500 1.2E-07
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		BUB3 mitotic checkpoint protein 0.588 0.615 0.81
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 91949
Gene Symbol: COG7
COG7 		component of oligomeric golgi complex 7 0.686 0.500 2.6E-07
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0