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: 7051
Gene Symbol: TGM1
TGM1
transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.110 None 1.000 0 0 2013 2013
Entrez Id: 940
Gene Symbol: CD28
CD28
CD28 molecule 0.436 0.885 0.36
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
phosphodiesterase 4D 0.519 0.846 1.00
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
membrane bound transcription factor peptidase, site 2 0.513 0.769 1.00
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 50814
Gene Symbol: NSDHL
NSDHL
NAD(P) dependent steroid dehydrogenase-like 0.621 0.538 0.96
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 3892
Gene Symbol: KRT86
KRT86
keratin 86 0.736 0.308 3.6E-07
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 3889
Gene Symbol: KRT83
KRT83
keratin 83 0.716 0.269 3.4E-14
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 3887
Gene Symbol: KRT81
KRT81
keratin 81 0.659 0.462 1.2E-18
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
keratin 14 0.530 0.731 2.0E-04
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
keratin 5 0.512 0.731 0.64
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
keratin 1 0.575 0.654 0.74
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
interferon regulatory factor 6 0.486 0.769 1.00
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 5317
Gene Symbol: PKP1
PKP1
plakophilin 1 0.659 0.462 5.8E-04
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
NADH:ubiquinone oxidoreductase subunit B11 0.566 0.692 0.80
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
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: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 9241
Gene Symbol: NOG
NOG
noggin 0.518 0.731 0.89
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
growth differentiation factor 5 0.511 0.692 0.67
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
alpha and gamma adaptin binding protein 0.695 0.538 3.9E-07
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 7373
Gene Symbol: COL14A1
COL14A1
collagen type XIV alpha 1 chain 0.674 0.615 1.4E-14
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 7133
Gene Symbol: TNFRSF1B
TNFRSF1B
TNF receptor superfamily member 1B 0.425 0.885 0.50
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 6898
Gene Symbol: TAT
TAT
tyrosine aminotransferase 0.492 0.846 6.9E-03
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 6820
Gene Symbol: SULT2B1
SULT2B1
sulfotransferase family 2B member 1 0.641 0.538 0.44
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0
Entrez Id: 643418
Gene Symbol: LIPN
LIPN
lipase family member N 0.736 0.423 3.1E-05
CUI: C0853087
Disease: Nail abnormality
Nail abnormality
phenotype 0.100 None 0 0