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Entry Name Description Category Pathway Gene
H00031 Breast cancer Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland ... Cancer hsa05224 Breast cancer
hsa05206 MicroRNAs in cancer
ESR1 (positive) [HSA:2099] [KO:K08550]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
CCND1 (amplification) [HSA:595] [KO:K04503]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
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]
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 (germline mutation) [HSA:675] [KO:K08775]
H00255 Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism (HH) or secondary hypogonadism is defined as a clinical syndrome that results from gonadal failure due to abnormal pituitary gonadotropin levels. HH may result from either ... Endocrine disease hsa04912 GnRH signaling pathway
hsa04080 Neuroactive ligand-receptor interaction
hsa04810 Regulation of actin cytoskeleton
(HH1/KAL1) KAL1 [HSA:3730] [KO:K23413]
(HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362]
(HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380]
(HH4/KAL4) PROK2 [HSA:60675] [KO:K24191]
(HH5/KAL5) CHD7 [HSA:55636] [KO:K14437]
(HH6/KAL6) FGF8 [HSA:2253] [KO:K04358]
(HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280]
(HH8) KISS1R [HSA:84634] [KO:K08374]
(HH9) NSMF [HSA:26012] [KO:K23844]
(HH10) TAC3 [HSA:6866] [KO:K05240]
(HH11) TACR3 [HSA:6870] [KO:K04224]
(HH12) GNRH1 [HSA:2796] [KO:K05252]
(HH13) KISS1 [HSA:3814] [KO:K23140]
(HH14) WDR11 [HSA:55717] [KO:K24260]
(HH15) HS6ST1 [HSA:9394] [KO:K02514]
(HH16) SEMA3A [HSA:10371] [KO:K06840]
(HH17) SPRY4 [HSA:81848] [KO:K17385]
(HH18) IL17RD [HSA:54756] [KO:K05167]
(HH19) DUSP6 [HSA:1848] [KO:K21946]
(HH20) FGF17 [HSA:8822] [KO:K04358]
(HH21) FLRT3 [HSA:23767] [KO:K16362]
(HH22) FEZF1 [HSA:389549]
(HH23/FEUNS) LHB [HSA:3972] [KO:K08521]
H00443 Osteoglophonic dysplasia
Osteoglophonic dwarfism
Osteoglophonic dysplasia (OD) or osteoglophonic dwarfism (OGD) is an autosomal dominant disorder that has skeletal phenotypes of craniosynostosis. Missense mutation of FGFR1 has been reported. Congenital malformation FGFR1 [HSA:2260] [KO:K04362]
H00458 Syndromic craniosynostoses Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... Congenital malformation (Pfeiffer) FGFR1 [HSA:2260] [KO:K04362]
(Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093]
(Muenke) FGFR3 [HSA:2261] [KO:K05094]
(Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069]
(Antley-Bixler) POR [HSA:5447] [KO:K00327]
(Carpenter) RAB23 [HSA:51715] [KO:K06234]
(Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463]
(Noonan) KRAS [HSA:3845] [KO:K07827]
(Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730]
H01207 Trigonocephaly Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly. Congenital malformation hsa04010 MAPK signaling pathway
hsa04520 Adherens junction
hsa04810 Regulation of actin cytoskeleton
FGFR1 [HSA:2260] [KO:K04362]
FREM1 [HSA:158326] [KO:K23380]
H01756 Pfeiffer syndrome ... ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome. Congenital malformation FGFR1 [HSA:2260] [KO:K04362]
FGFR2 [HSA:2263] [KO:K05093]
H01850 Hartsfield syndrome
Holoprosencephaly, ectrodactyly, and cleft/lip palate
... radial agenesis, genital anomalies, severe psychomotor retardation, and hypothalamic-pituitary dysfunction have been observed. Dominant or recessive FGFR1 mutations are responsible for Hartsfield syndrome. Congenital malformation FGFR1 [HSA:2260] [KO:K04362]
H01988 Jackson-Weiss syndrome ... variability. While mutations of multiple genes have been identified in syndromic craniosynostosis, the most frequently mutated gene is FGFR2. Mutations of FGFR1 have occasionally been identified in JWS. Congenital malformation FGFR1 [HSA:2260] [KO:K04362]
FGFR2 [HSA:2263] [KO:K05093]
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