abnormality of the breast Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the breast. (Human Phenotype Ontology, HP_0000769)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000769
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Genes

181 genes associated with the abnormality of the breast phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
AAGAB alpha- and gamma-adaptin binding protein
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACOX1 acyl-CoA oxidase 1, palmitoyl
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
AMER1 APC membrane recruitment protein 1
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
APC adenomatous polyposis coli
AR androgen receptor
ARHGAP31 Rho GTPase activating protein 31
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATR ATR serine/threonine kinase
B3GALTL beta 1,3-galactosyltransferase-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCDC22 coiled-coil domain containing 22
CDC6 cell division cycle 6
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CDT1 chromatin licensing and DNA replication factor 1
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL14A1 collagen, type XIV, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUL4B cullin 4B
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DOLK dolichol kinase
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DUSP6 dual specificity phosphatase 6
EDA ectodysplasin A
EDARADD EDAR-associated death domain
EFNB1 ephrin-B1
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC6 excision repair cross-complementation group 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOXL2 forkhead box L2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
ICK intestinal cell (MAK-like) kinase
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGF1R insulin-like growth factor 1 receptor
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17RD interleukin 17 receptor D
INSR insulin receptor
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF1BP KIF1 binding protein
KISS1R KISS1 receptor
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LMNA lamin A/C
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEGF8 multiple EGF-like-domains 8
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NELFA negative elongation factor complex member A
NIPBL Nipped-B homolog (Drosophila)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PARK2 parkin RBR E3 ubiquitin protein ligase
PHF6 PHD finger protein 6
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
POT1 protection of telomeres 1
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRLR prolactin receptor
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1CC1 RB1-inducible coiled-coil 1
RBM28 RNA binding motif protein 28
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RNF216 ring finger protein 216
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
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SH3PXD2B SH3 and PX domains 2B
SLC22A18 solute carrier family 22, member 18
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMS spermine synthase
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SPRY4 sprouty homolog 4 (Drosophila)
SSTR5 somatostatin receptor 5
STK11 serine/threonine kinase 11
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
TACR3 tachykinin receptor 3
TBX3 T-box 3
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMCO1 transmembrane and coiled-coil domains 1
TP53 tumor protein p53
TP63 tumor protein p63
TSG101 tumor susceptibility 101
TWIST1 twist family bHLH transcription factor 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDR11 WD repeat domain 11
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3
WNT7A wingless-type MMTV integration site family, member 7A
WRN Werner syndrome, RecQ helicase-like
ZBTB20 zinc finger and BTB domain containing 20
ZEB2 zinc finger E-box binding homeobox 2