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: 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: 7046
Gene Symbol: TGFBR1
TGFBR1
transforming growth factor beta receptor 1 0.451 0.885 0.85
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
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: 5627
Gene Symbol: PROS1
PROS1
protein S 0.467 0.846 4.7E-04
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 5624
Gene Symbol: PROC
PROC
protein C, inactivator of coagulation factors Va and VIIIa 0.504 0.808 1.9E-05
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
protein kinase D1 0.531 0.846 6.6E-07
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: 5573
Gene Symbol: PRKAR1A
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha 0.401 0.846 1.00
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: 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: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 54345
Gene Symbol: SOX18
SOX18
SRY-box transcription factor 18 0.578 0.692 0.15
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.579 0.731 1.5E-15
CUI: C0423757
Disease: Thin skin
Thin skin
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: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 7148
Gene Symbol: TNXB
TNXB
tenascin XB 0.572 0.731 1.9E-02
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2 0.579 0.808 0.97
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: 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: 9101
Gene Symbol: USP8
USP8
ubiquitin specific peptidase 8 0.587 0.654 1.00
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0
Entrez Id: 9049
Gene Symbol: AIP
AIP
aryl hydrocarbon receptor interacting protein 0.517 0.769 0.36
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype 0.100 None 0 0