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Entry Name Description Category Pathway Gene
H00039 Basal cell carcinoma ... associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes. At a cellular level, sonic hedgehog signaling ... Cancer hsa05217 Basal cell carcinoma SHH (germline, somatic mutation) [HSA:6469] [KO:K11988]
SMO (somatic mutation) [HSA:6608] [KO:K06226]
p53 (mutation) [HSA:7157] [KO:K04451]
PTCH (germline, somatic mutation) [HSA:5727] [KO:K06225]
H00267 Holoprosencephaly Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides. Congenital malformation hsa04340 Hedgehog signaling pathway (HPE2) SIX3 [HSA:6496] [KO:K19473]
(HPE3) SHH [HSA:6469] [KO:K11988]
(HPE4) TGIF1 [HSA:7050] [KO:K19383]
(HPE5) ZIC2 [HSA:7546] [KO:K06235]
(HPE7) PTCH1 [HSA:5727] [KO:K06225]
(HPE9) GLI2 [HSA:2736] [KO:K16798]
(HPE11) CDON [HSA:50937] [KO:K20033]
H00652 Solitary median maxillary central incisor syndrome ... the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, is associated with the disorder. Congenital malformation hsa04340 Hedgehog signaling pathway SHH [HSA:6469] [KO:K11988]
H00855 Triphalangeal thumb-polysyndactyly syndrome ... thumb-polydactyly syndrome (TPT-PS). TPT is caused by defects in a cis-regulatory sequence ZRS, located in intron 5 of LMBR1, which is crucial for expression of sonic hedgehog (SHH) during limb development. Congenital malformation hsa04340 Hedgehog signaling pathway LMBR1 (mutation in intron 5) [HSA:64327]
H01027 Microphthalmia Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. ... Congenital malformation (MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336]
(MCOP3) RAX [HSA:30062] [KO:K09332]
(MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012]
(MCOP5) MFRP [HSA:83552] [KO:K24359]
(MCOP6) PRSS56 [HSA:646960] [KO:K23440]
(MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672]
(MCOP8) ALDH1A3 [HSA:220] [KO:K07249]
(MCOPCB5) SHH [HSA:6469] [KO:K11988]
(MCOPCB7) ABCB6 [HSA:10058] [KO:K05661]
(MCOPCB8) STRA6 [HSA:64220] [KO:K23088]
(MCOPCB9) TENM3 [HSA:55714] [KO:K24473]
(MCOPCB10) RBP4 [HSA:5950] [KO:K18271]
H01160 Schizencephaly ... between the inner and outer liquor spaces. Gray matter-lined clefts in the cerebral cortex and a range of neurological presentations are characteristic. Mutations in SIX3, SHH, and EMX2 have been reported. Congenital malformation hsa04340 Hedgehog signaling pathway SIX3 [HSA:6496] [KO:K19473]
SHH [HSA:6469] [KO:K11988]
EMX2 [HSA:2018] [KO:K09317]
H01556 Meningioma ... novel mutations have been discovered in non-NF2 meningiomas. The somatic mutations in components of the SHH-GLI1 and AKT1-MTOR signaling pathways indicates the potential for cross talk of these pathways in ... Cancer NF2 (mutation) [HSA:4771] [KO:K16684]
SMARCB1 (mutation) [HSA:6598] [KO:K11648]
SMARCE1 (mutation) [HSA:6605] [KO:K11651]
SUFU (mutation) [HSA:51684] [KO:K06229]
PTEN (mutation) [HSA:5728] [KO:K01110]
CDKN2A (mutation) [HSA:1029] [KO:K06621]
CDKN2B (mutation) [HSA:1030] [KO:K04685]
TRAF7 (mutation) [HSA:84231] [KO:K10646]
AKT1 (mutation) [HSA:207] [KO:K04456]
KLF4 (mutation) [HSA:9314] [KO:K17846]
SMO (mutation) [HSA:6608] [KO:K06226]
H01667 Medulloblastoma ... Recently, four distinct molecular subgroups of medulloblastoma have been identified [WNT (wingless), SHH (sonic hedgehog), Group 3, and Group 4]. Nearly all (90 %) of WNT patients have somatic missense ... Cancer hsa04310 Wnt signaling pathway
hsa04340 Hedgehog signaling pathway
PTCH1 (mutation) [HSA:5727] [KO:K06225]
SUFU (mutation) [HSA:51684] [KO:K06229]
SMO (mutation) [HSA:6608] [KO:K06226]
Axin1 (mutation) [HSA:8312] [KO:K02157]
Axin2 (mutation) [HSA:8313] [KO:K04385]
APC (mutation) [HSA:324 10297] [KO:K02085]
CTNNB1 (mutation) [HSA:1499] [KO:K02105]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TP53 (mutation) [HSA:7157] [KO:K04451]
NF2 (mutation) [HSA:4771] [KO:K16684]
MEN1 (mutation) [HSA:4221] [KO:K14970]
hTERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]
KDM6A (mutation) [HSA:7403] [KO:K11447]
H02332 Preaxial polydactyly ... polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GL3 and SHH/ZRS, involved in Hedgehog pathway, result in preaxial polydactyly. Congenital malformation hsa04340 Hedgehog signaling pathway (PPD1) GLI1 [HSA:2735] [KO:K16797]
(PPD2) ZRS/LMBR1 [HSA:64327]
(PPD4) GLI3 [HSA:2737] [KO:K06230]
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