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: 10056
Gene Symbol: FARSB
FARSB 		phenylalanyl-tRNA synthetase subunit beta 0.682 0.500 3.3E-03
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		pericentrin 0.564 0.808 4.0E-58
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1 		protein kinase cGMP-dependent 1 0.603 0.769 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		actin alpha 2, smooth muscle 0.508 0.846 0.93
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 6772
Gene Symbol: STAT1
STAT1 		signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		transforming growth factor beta 2 0.433 0.885 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		transforming growth factor beta 3 0.498 0.808 0.99
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 8076
Gene Symbol: MFAP5
MFAP5 		microfibril associated protein 5 0.590 0.615 5.1E-03
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 4638
Gene Symbol: MYLK
MYLK 		myosin light chain kinase 0.510 0.846 9.2E-12
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 4144
Gene Symbol: MAT2A
MAT2A 		methionine adenosyltransferase 2A 0.615 0.654 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN 		elastin 0.415 0.885 2.1E-14
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 2301
Gene Symbol: FOXE3
FOXE3 		forkhead box E3 0.568 0.654 0.18
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 23193
Gene Symbol: GANAB
GANAB 		glucosidase II alpha subunit 0.716 0.423 1.00
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 2677
Gene Symbol: GGCX
GGCX 		gamma-glutamyl carboxylase 0.678 0.538 2.0E-14
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 4015
Gene Symbol: LOX
LOX 		lysyl oxidase 0.447 0.846 0.99
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		SMAD family member 3 0.415 0.923 0.80
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3 		procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 0.659 0.385 6.1E-13
CUI: C4476540
Disease: Dilatation of the cerebral artery
Dilatation of the cerebral artery 		phenotype 0.100 None 0 0