Source: HPO

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: 64324
Gene Symbol: NSD1
NSD1 		nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM 		FA complementation group M 0.543 0.731 2.4E-15
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH 		parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		patched 1 0.398 0.885 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 55599
Gene Symbol: RNPC3
RNPC3 		RNA binding region (RNP1, RRM) containing 3 0.608 0.731 2.0E-04
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		FA complementation group I 0.543 0.731 8.9E-37
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		SRY-box transcription factor 5 0.545 0.769 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51 		RAD51 recombinase 0.447 0.846 2.7E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 6651
Gene Symbol: SON
SON 		SON DNA binding protein 0.565 0.769 1.00
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1 		ciliogenesis and planar polarity effector 1 0.575 0.692 5.9E-36
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0