Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.100 Biomarker phenotype HPO
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2
0.100 Biomarker phenotype HPO
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.100 Biomarker phenotype HPO
Entrez Id: 3592
Gene Symbol: IL12A
IL12A
0.100 Biomarker phenotype HPO
Entrez Id: 3594
Gene Symbol: IL12RB1
IL12RB1
0.100 Biomarker phenotype HPO
Entrez Id: 3663
Gene Symbol: IRF5
IRF5
0.100 Biomarker phenotype HPO
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.100 Biomarker phenotype HPO
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.100 Biomarker phenotype HPO
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
0.010 Biomarker phenotype LHGDN Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? 16479403 2006
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.100 Biomarker phenotype HPO
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
0.100 Biomarker phenotype HPO
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
0.100 Biomarker phenotype HPO
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
0.100 Biomarker phenotype HPO
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.100 Biomarker phenotype HPO
Entrez Id: 4158
Gene Symbol: MC2R
MC2R
0.100 Biomarker phenotype HPO
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79258
Gene Symbol: MMEL1
MMEL1
0.100 Biomarker phenotype HPO
Entrez Id: 56246
Gene Symbol: MRAP
MRAP
0.100 Biomarker phenotype HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 CausalMutation phenotype CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 4644
Gene Symbol: MYO5A
MYO5A
0.010 Biomarker phenotype LHGDN Knockdown of myosin Va isoforms by RNAi as a tool to block melanosome transport in primary human melanocytes. 18401430 2008
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
0.100 Biomarker phenotype HPO
Entrez Id: 55651
Gene Symbol: NHP2
NHP2
0.100 Biomarker phenotype HPO
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
0.100 Biomarker phenotype HPO