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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2 		SH3 domain binding protein 2 0.623 0.654 1.2E-11
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 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: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 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: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		cullin 4B 0.556 0.769 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B 		phosphodiesterase 8B 0.638 0.500 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 9049
Gene Symbol: AIP
AIP 		aryl hydrocarbon receptor interacting protein 0.517 0.769 0.36
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 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: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 5566
Gene Symbol: PRKACA
PRKACA 		protein kinase cAMP-activated catalytic subunit alpha 0.606 0.692 0.97
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 50940
Gene Symbol: PDE11A
PDE11A 		phosphodiesterase 11A 0.612 0.654 8.7E-37
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		SMAD family member 3 0.415 0.923 0.80
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6 		ATP binding cassette subfamily C member 6 0.540 0.654 5.6E-35
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2 		collagen type V alpha 2 chain 0.568 0.731 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		collagen type V alpha 1 chain 0.536 0.769 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0
Entrez Id: 9101
Gene Symbol: USP8
USP8 		ubiquitin specific peptidase 8 0.587 0.654 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease 0.100 None 0 0