cafe-au-lait spot Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. (Human Phenotype Ontology, HP_0000957)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000957
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Genes

67 genes associated with the cafe-au-lait spot phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATM ATM serine/threonine kinase
BLM Bloom syndrome, RecQ helicase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CEP57 centrosomal protein 57kDa
CREBBP CREB binding protein
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
GNAS GNAS complex locus
H19 H19, imprinted maternally expressed transcript (non-protein coding)
KDM5C lysine (K)-specific demethylase 5C
KIF1B kinesin family member 1B
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MED12 mediator complex subunit 12
MEN1 multiple endocrine neoplasia I
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NBN nibrin
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
PALB2 partner and localizer of BRCA2
PCNT pericentrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SOX10 SRY (sex determining region Y)-box 10
SPRED1 sprouty-related, EVH1 domain containing 1
STEAP3 STEAP family member 3, metalloreductase
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TWIST2 twist family bHLH transcription factor 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase