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: 10519
Gene Symbol: CIB1
CIB1 		calcium and integrin binding 1 0.458 0.769 3.3E-04
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 3860
Gene Symbol: KRT13
KRT13 		keratin 13 0.631 0.692 6.4E-04
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0221270
Disease: Acanthosis
Acanthosis 		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: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1 		ectonucleotide pyrophosphatase/phosphodiesterase 1 0.498 0.808 5.0E-08
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 5271
Gene Symbol: SERPINB8
SERPINB8 		serpin family B member 8 0.792 0.154 2.8E-09
CUI: C0221270
Disease: Acanthosis
Acanthosis 		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: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 56983
Gene Symbol: POGLUT1
POGLUT1 		protein O-glucosyltransferase 1 0.691 0.385 1.6E-08
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3 		arachidonate lipoxygenase 3 0.644 0.538 5.1E-20
CUI: C0221270
Disease: Acanthosis
Acanthosis 		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: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 79092
Gene Symbol: CARD14
CARD14 		caspase recruitment domain family member 14 0.546 0.846 1.2E-19
CUI: C0221270
Disease: Acanthosis
Acanthosis 		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: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2 		grainyhead like transcription factor 2 0.590 0.731 1.00
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 80326
Gene Symbol: WNT10A
WNT10A 		Wnt family member 10A 0.547 0.731 4.2E-09
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 831
Gene Symbol: CAST
CAST 		calpastatin 0.541 0.846 4.1E-12
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 8710
Gene Symbol: SERPINB7
SERPINB7 		serpin family B member 7 0.760 0.346 7.4E-09
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 3858
Gene Symbol: KRT10
KRT10 		keratin 10 0.579 0.692 2.5E-03
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 3848
Gene Symbol: KRT1
KRT1 		keratin 1 0.575 0.654 0.74
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 3728
Gene Symbol: JUP
JUP 		junction plakoglobin 0.628 0.500 8.0E-04
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 126410
Gene Symbol: CYP4F22
CYP4F22 		cytochrome P450 family 4 subfamily F member 22 0.705 0.462 5.3E-06
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 1828
Gene Symbol: DSG1
DSG1 		desmoglein 1 0.606 0.538 0.93
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP 		desmoplakin 0.514 0.808 1.00
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 1956
Gene Symbol: EGFR
EGFR 		epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0
Entrez Id: 204219
Gene Symbol: CERS3
CERS3 		ceramide synthase 3 0.705 0.308 5.7E-03
CUI: C0221270
Disease: Acanthosis
Acanthosis 		phenotype 0.100 None 0 0