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Entry Name Description Category Pathway Gene
H00031 Breast cancer ... worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast cancer, which are based on the ... Cancer hsa05224 Breast cancer BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 [HSA:675] [KO:K08775]
BARD1 [HSA:580] [KO:K10683]
BRIP1 [HSA:83990] [KO:K15362]
PALB2 [HSA:79728] [KO:K10897]
RAD51 [HSA:5888] [KO:K04482]
RAD54L [HSA:8438] [KO:K10875]
XRCC3 [HSA:7517] [KO:K10880]
ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083]
ESR1/ER1 [HSA:2099] [KO:K08550]
PGR [HSA:5241] [KO:K08556]
GATA3 [HSA:2625] [KO:K17895]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
PPM1D [HSA:8493] [KO:K10147]
RB1CC1 [HSA:9821] [KO:K17589]
HMMR [HSA:3161] [KO:K06267]
NQO2 [HSA:4835] [KO:K08071]
SLC22A18 [HSA:5002] [KO:K08214]
PTEN [HSA:5728] [KO:K01110]
EGFR (overexpression) [HSA:1956] [KO:K04361]
KIT (overexpression) [HSA:3815] [KO:K05091]
NOTCH1 (overexpression) [HSA:4851] [KO:K02599]
NOTCH4 (overexpression) [HSA:4855] [KO:K20996]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
LRP6 (overexpression) [HSA:4040] [KO:K03068]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
CCND1 (amplification) [HSA:595] [KO:K04503]
H00070 Galactosemia ... enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts Inherited metabolic disorder (GALAC1) GALT [HSA:2592] [KO:K00965]
(GALAC2) GALK1 [HSA:2584] [KO:K00849]
(GALAC3) GALE [HSA:2582] [KO:K01784]
(GALAC4) GALM [HSA:130589] [KO:K01785]
H00329 Foodborne Bacillus cereus intoxication ... associated with the consumption of rice-based dishes, while the diarrheal type is transmitted mostly by milk products, vegetables, and meat. B. cereus is also recognized as an infrequent cause of local and ... Bacterial infectious disease
H00953 Gelatinous drop-like corneal dystrophy
Corneal amyloidosis
... corneal dystrophy (GDCD) is a rare autosomal recessive dystrophy characterized by multiple prominent milky-white gelatinous mulberry-shaped nodules formed beneath the corneal epithelium during the first ... Nervous system disease TACSTD2 [HSA:4070] [KO:K17288]
H00963 Congenital hereditary endothelial dystrophy ... characterized by bilateral symmetric corneal clouding (edema) with varied severity from mild opacification to milky, ground-glass opacification without other anterior segment abnormalities, usually evident at birth ... Nervous system disease SLC4A11 [HSA:83959] [KO:K13862]
H01051 Corynebacterium ulcerans infection ... diphtheria-like illness. It can be fatal in unvaccinated patients and usually occur in adults, who consumed raw milk or had close contact with domestic animals. These C. ulcerans strains produce a diphtheria toxin ... Bacterial infectious disease
H01476 Behcet disease
Behcet syndrome
... cardiovascular and neurological systems. This disease is more common in countries along the ancient Silk Road, including Asia, Middle East, and Mediterranean. Although the etiology is still unknown, this ... Immune system disease; Skin disease
H01563 HIV infection ... Africa and is rarely found elsewhere. Infection with HIV occurs by transfer of blood, semen, and breast milk. The identification of HIV as the causative agent of AIDS catalyzed efforts to develop antiviral ... Viral infectious disease hsa05170 Human immunodeficiency virus 1 infection CCR5 (resistance) [HSA:1234] [KO:K04180]
CCR2 (resistance) [HSA:729230] [KO:K04177]
TLR3 (resistance) [HSA:7098] [KO:K05401]
CXCL12 (resistance) [HSA:6387] [KO:K10031]
CCL2 (resistance) [HSA:6347] [KO:K14624]
CCL3 (resistance) [HSA:6348] [KO:K05408]
CCL11 (resistance) [HSA:6356] [KO:K16597]
IL10 (susceptibility) [HSA:3586] [KO:K05443]
CD209 (susceptibility) [HSA:30835] [KO:K06563]
HLA-C (susceptibility) [HSA:3107] [KO:K06751]
CCL3L1 (susceptibility) [HSA:6349] [KO:K05408]
IFNG (rapid progression) [HSA:3458] [KO:K04687]
CX3CR1 (rapid progression) [HSA:1524] [KO:K04192]
CXCR1 (slow progression) [HSA:3577] [KO:K04175]
IL4R (slow progression) [HSA:3566] [KO:K05071]
CCL5 (delayed/rapid progression) [HSA:6352] [KO:K12499]
KIR3DL1 (delayed/rapid progression) [HSA:3811] [KO:K07980]
H01607 Galactorrhea Galactorrhea is a discharge of milk or a milk-like secretion from the breast in the absence of parturition or beyond six months' post-partum in a nonbreastfeeding woman. The condition is more common in ... Reproductive system disease
H01847 Thrombocytopenia-absent radius syndrome
TAR syndrome
... cardiac lesions (usually septal defects), gastrointestinal and genitourinary abnormalities. Cow's milk allergy is highly prevalent in patients with TAR syndrome. TAR syndrome is caused by the compound ... Congenital malformation RBM8A [HSA:9939] [KO:K12876]
H01925 Transient neonatal zinc deficiency ... loss-of-function mutations of the zinc transporter SLC30A2/ZnT2 gene, which results in low zinc breast milk in the mother, consequently causing zinc deficiency in the breast-fed infant. The main initial symptoms ... Inherited metabolic disorder SLC30A2 [HSA:7780] [KO:K14689]
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