multiple lipomas Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of multiple lipomas (a type of benign tissue made of fatty tissue). (Human Phenotype Ontology, HP_0001012)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001012
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Genes

43 genes associated with the multiple lipomas phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALX3 ALX homeobox 3
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APC adenomatous polyposis coli
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
COX1
COX2
COX3
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
FLCN folliculin
FUZ fuzzy planar cell polarity protein
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
KLLN killin, p53-regulated DNA replication inhibitor
LEMD3 LEM domain containing 3
LIPA lipase A, lysosomal acid, cholesterol esterase
LMNA lamin A/C
MEN1 multiple endocrine neoplasia I
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TP tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
RNR1 RNA, ribosomal cluster 1
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
SPRED1 sprouty-related, EVH1 domain containing 1
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2