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: 100144748
Gene Symbol: KLLN
KLLN
killin, p53 regulated DNA replication inhibitor 0.578 0.654 5.1E-03
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0332573
Disease: Macule
Macule
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: C0332573
Disease: Macule
Macule
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: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
succinate dehydrogenase complex subunit D 0.472 0.885 0.34
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
porcupine O-acyltransferase 0.545 0.692 1.00
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 6497
Gene Symbol: SKI
SKI
SKI proto-oncogene 0.503 0.808 1.00
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 6591
Gene Symbol: SNAI2
SNAI2
snail family transcriptional repressor 2 0.505 0.692 0.80
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4
ELOVL fatty acid elongase 4 0.601 0.577 0.83
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2
potassium voltage-gated channel subfamily A regulatory beta subunit 2 0.593 0.692 0.80
CUI: C0332573
Disease: Macule
Macule
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: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 473
Gene Symbol: RERE
RERE
arginine-glutamic acid dipeptide repeats 0.526 0.846 1.00
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 103
Gene Symbol: ADAR
ADAR
adenosine deaminase RNA specific 0.501 0.808 2.6E-02
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 10320
Gene Symbol: IKZF1
IKZF1
IKAROS family zinc finger 1 0.533 0.769 1.00
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 10483
Gene Symbol: SEC23B
SEC23B
SEC23 homolog B, COPII coat complex component 0.579 0.692 6.1E-20
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
collagen type III alpha 1 chain 0.477 0.808 1.00
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 1475
Gene Symbol: CSTA
CSTA
cystatin A 0.592 0.731 1.5E-04
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 2563
Gene Symbol: GABRD
GABRD
gamma-aminobutyric acid type A receptor subunit delta 0.558 0.692 0.99
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0332573
Disease: Macule
Macule
phenotype 0.100 None 0 0