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: 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
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2 		twist family bHLH transcription factor 2 0.518 0.731 0.56
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 7507
Gene Symbol: XPA
XPA 		XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 7389
Gene Symbol: UROD
UROD 		uroporphyrinogen decarboxylase 0.521 0.769 1.3E-08
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 3977
Gene Symbol: LIFR
LIFR 		LIF receptor subunit alpha 0.523 0.808 1.5E-13
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: 1289
Gene Symbol: COL5A1
COL5A1 		collagen type V alpha 1 chain 0.536 0.769 1.00
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
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: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
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: 4784
Gene Symbol: NFIX
NFIX 		nuclear factor I X 0.547 0.769 1.00
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		solute carrier family 2 member 10 0.550 0.615 1.6E-08
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: 1896
Gene Symbol: EDA
EDA 		ectodysplasin A 0.553 0.808 0.97
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 1147
Gene Symbol: CHUK
CHUK 		component of inhibitor of nuclear factor kappa B kinase complex 0.556 0.731 0.99
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 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: 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: 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: 23327
Gene Symbol: NEDD4L
NEDD4L 		NEDD4 like E3 ubiquitin protein ligase 0.573 0.731 1.00
CUI: C0423757
Disease: Thin skin
Thin skin 		phenotype 0.100 None 0 0
Entrez Id: 1643
Gene Symbol: DDB2
DDB2 		damage specific DNA binding protein 2 0.576 0.654 7.4E-06
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: 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: 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