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: 9663
Gene Symbol: LPIN2
LPIN2
lipin 2 0.628 0.615 5.0E-05
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 5657
Gene Symbol: PRTN3
PRTN3
proteinase 3 0.503 0.808 3.8E-05
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 5340
Gene Symbol: PLG
PLG
plasminogen 0.389 0.923 1.0E-02
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
plectin 0.523 0.808 8.3E-12
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
peptidase D 0.621 0.769 1.5E-14
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
endoplasmic reticulum aminopeptidase 1 0.556 0.692 2.1E-26
CUI: C0332563
Disease: Papule
Papule
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: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 4771
Gene Symbol: NF2
NF2
neurofibromin 2 0.468 0.885 1.00
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA
alpha-N-acetylgalactosaminidase 0.647 0.538 1.8E-11
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 4598
Gene Symbol: MVK
MVK
mevalonate kinase 0.576 0.731 0.17
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 4035
Gene Symbol: LRP1
LRP1
LDL receptor related protein 1 0.482 0.769 1.00
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 362
Gene Symbol: AQP5
AQP5
aquaporin 5 0.552 0.769 5.3E-02
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 3592
Gene Symbol: IL12A
IL12A
interleukin 12A 0.491 0.808 4.7E-02
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 58484
Gene Symbol: NLRC4
NLRC4
NLR family CARD domain containing 4 0.556 0.769 9.9E-12
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 9333
Gene Symbol: TGM5
TGM5
transglutaminase 5 0.656 0.615 2.4E-25
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 84818
Gene Symbol: IL17RC
IL17RC
interleukin 17 receptor C 0.633 0.615 2.3E-14
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 8302
Gene Symbol: KLRC4
KLRC4
killer cell lectin like receptor C4 0.666 0.654 5.7E-03
CUI: C0332563
Disease: Papule
Papule
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: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0332563
Disease: Papule
Papule
phenotype 0.100 None 0 0