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: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN 		porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 613
Gene Symbol: BCR
BCR 		BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		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: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31 		Rho GTPase activating protein 31 0.581 0.615 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 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: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		mitogen-activated protein kinase 1 0.330 0.923 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		delta like canonical Notch ligand 4 0.494 0.769 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2 		ATPase H+ transporting V1 subunit B2 0.606 0.577 0.99
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		notch receptor 1 0.369 0.885 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 4038
Gene Symbol: LRP4
LRP4 		LDL receptor related protein 4 0.568 0.692 1.4E-06
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1 		potassium voltage-gated channel subfamily H member 1 0.542 0.731 0.55
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC 		APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 1399
Gene Symbol: CRKL
CRKL 		CRK like proto-oncogene, adaptor protein 0.553 0.769 0.45
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0
Entrez Id: 9241
Gene Symbol: NOG
NOG 		noggin 0.518 0.731 0.89
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		phenotype 0.100 None 0 0