abnormality of adipose tissue Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of adipose tissue20110), which is loose connective tissue composed of adipocytes. (Human Phenotype Ontology, HP_0009124)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009124
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Genes

132 genes associated with the abnormality of adipose tissue 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
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALMS1 Alstrom syndrome protein 1
ALX3 ALX homeobox 3
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
APC adenomatous polyposis coli
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
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)
CECR1 cat eye syndrome chromosome region, candidate 1
CLMP CXADR-like membrane protein
COL3A1 collagen, type III, alpha 1
COX1
COX2
COX3
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DDIT3 DNA-damage-inducible transcript 3
DES desmin
DMD dystrophin
DOLK dolichol kinase
DSG2 desmoglein 2
ELN elastin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FBLN5 fibulin 5
FBN1 fibrillin 1
FH fumarate hydratase
FHL2 four and a half LIM domains 2
FKTN fukutin
FLCN folliculin
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
GATAD1 GATA zinc finger domain containing 1
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GTF2H5 general transcription factor IIH, polypeptide 5
INSR insulin receptor
KLLN killin, p53-regulated DNA replication inhibitor
LAMA4 laminin, alpha 4
LCK LCK proto-oncogene, Src family tyrosine kinase
LDB3 LIM domain binding 3
LEMD3 LEM domain containing 3
LIPA lipase A, lysosomal acid, cholesterol esterase
LMNA lamin A/C
LMNB2 lamin B2
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
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
ND1
NEXN nexilin (F actin binding protein)
PHGDH phosphoglycerate dehydrogenase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLIN1 perilipin 1
PLN phospholamban
PMM2 phosphomannomutase 2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PORCN porcupine homolog (Drosophila)
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RBM28 RNA binding motif protein 28
RNR1 RNA, ribosomal cluster 1
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
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
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SKI SKI proto-oncogene
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SPRED1 sprouty-related, EVH1 domain containing 1
TAZ tafazzin
TCAP titin-cap
TGFB1 transforming growth factor, beta 1
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPM1 tropomyosin 1 (alpha)
TREM2 triggering receptor expressed on myeloid cells 2
TTN titin
TXNRD2 thioredoxin reductase 2
TYROBP TYRO protein tyrosine kinase binding protein
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VCL vinculin
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24