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: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		dedicator of cytokinesis 6 0.610 0.577 1.3E-26
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6 		zinc finger SWIM-type containing 6 0.626 0.577 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 57697
Gene Symbol: FANCM
FANCM 		FA complementation group M 0.543 0.731 2.4E-15
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 1.000 0 0 2001 2006
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2 		NK3 homeobox 2 0.736 0.308 0.64
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 60675
Gene Symbol: PROK2
PROK2 		prokineticin 2 0.555 0.769 1.4E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 6125
Gene Symbol: RPL5
RPL5 		ribosomal protein L5 0.617 0.615 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 6165
Gene Symbol: RPL35A
RPL35A 		ribosomal protein L35a 0.736 0.385 0.90
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI 		SKI proto-oncogene 0.503 0.808 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2 		bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237 		transmembrane protein 237 0.612 0.538 1.9E-12
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 6608
Gene Symbol: SMO
SMO 		smoothened, frizzled class receptor 0.489 0.731 4.3E-07
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS 		spermine synthase 0.491 0.846 0.97
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		SOS Ras/Rac guanine nucleotide exchange factor 1 0.485 0.808 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		SRY-box transcription factor 9 0.419 0.846 1.00
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 1.000 0 0 2006 2006