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: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic 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: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic 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: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
mutL homolog 1 0.399 0.808 3.4E-05
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 7132
Gene Symbol: TNFRSF1A
TNFRSF1A
TNF receptor superfamily member 1A 0.409 0.923 0.99
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit 0.420 0.846 7.1E-20
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 3643
Gene Symbol: INSR
INSR
insulin receptor 0.432 0.846 3.6E-05
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 6794
Gene Symbol: STK11
STK11
serine/threonine kinase 11 0.435 0.808 0.99
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 1536
Gene Symbol: CYBB
CYBB
cytochrome b-245 beta chain 0.452 0.885 1.00
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 2956
Gene Symbol: MSH6
MSH6
mutS homolog 6 0.462 0.731 3.7E-05
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit 0.468 0.846 1.4E-12
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 1371
Gene Symbol: CPOX
CPOX
coproporphyrinogen oxidase 0.488 0.846 0.17
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
ERCC excision repair 5, endonuclease 0.499 0.731 2.7E-13
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit 0.504 0.846 3.4E-11
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype 0.100 None 0 0