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: 3849
Gene Symbol: KRT2
KRT2
keratin 2 0.760 0.154 1.3E-03
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 126695
Gene Symbol: KDF1
KDF1
keratinocyte differentiation factor 1 0.729 0.269 0.15
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
protoporphyrinogen oxidase 0.678 0.500 2.8E-02
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 79798
Gene Symbol: ARMC5
ARMC5
armadillo repeat containing 5 0.670 0.500 0.11
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13
solute carrier family 39 member 13 0.666 0.538 2.5E-03
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2
ADP ribosylation factor guanine nucleotide exchange factor 2 0.659 0.462 1.00
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 56916
Gene Symbol: SMARCAD1
SMARCAD1
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 0.656 0.423 1.00
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 92344
Gene Symbol: GORAB
GORAB
golgin, RAB6 interacting 0.647 0.538 6.7E-06
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 128178
Gene Symbol: EDARADD
EDARADD
EDAR associated death domain 0.638 0.462 3.2E-04
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 715
Gene Symbol: C1R
C1R
complement C1r 0.638 0.654 0.78
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
phosphodiesterase 8B 0.638 0.500 1.00
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 160418
Gene Symbol: TMTC3
TMTC3
transmembrane O-mannosyltransferase targeting cadherins 3 0.636 0.538 4.6E-05
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7
beta-1,4-galactosyltransferase 7 0.628 0.654 1.1E-04
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 4131
Gene Symbol: MAP1B
MAP1B
microtubule associated protein 1B 0.628 0.500 1.00
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 375
Gene Symbol: ARF1
ARF1
ADP ribosylation factor 1 0.626 0.615 0.90
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 10913
Gene Symbol: EDAR
EDAR
ectodysplasin A receptor 0.623 0.423 1.3E-06
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
peptidase D 0.621 0.769 1.5E-14
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 50940
Gene Symbol: PDE11A
PDE11A
phosphodiesterase 11A 0.612 0.654 8.7E-37
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1
phosphatidylserine synthase 1 0.610 0.615 0.15
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 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: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
protein phosphatase 1 catalytic subunit beta 0.601 0.577 1.00
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CST telomere replication complex component 1 0.601 0.538 1.6E-11
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 4998
Gene Symbol: ORC1
ORC1
origin recognition complex subunit 1 0.595 0.654 1.7E-14
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 0.592 0.731 7.7E-19
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0