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Entry Name Description Category Pathway Gene
H00546 Atrial septal defect Atrial septal defect is an abnormal hole in the interatrial septum between right and left atria. Atrial septal defect is one of the most frequent types of malformations in congenital heart defect that ... Developmental disorder; Cardiovascular disease (ASD2) GATA4 [HSA:2626] [KO:K09183]
(ASD3) MYH6 [HSA:4624] [KO:K17751]
(ASD4) TBX20 [HSA:57057] [KO:K10185]
(ASD5) ACTC1 [HSA:70] [KO:K12314]
(ASD6) TLL1 [HSA:7092] [KO:K09608]
(ASD7) NKX2-5 [HSA:1482] [KO:K09345]
(ASD8) CITED2 [HSA:10370] [KO:K21361]
(ASD9) GATA6 [HSA:2627] [KO:K17897]
H00909 Cleft palate with ankyloglossia ... palate with ankyloglossia is an X-linked semi-dominant craniofacial disorder caused by mutations in the TBX22 transcription factor. It affects male patients and approximately one third of female carriers. ... Congenital malformation TBX22 [HSA:50945] [KO:K10186]
H01191 Asthma with nasal polyps and aspirin intolerance ... nasal and bronchial tissue, often associated with nasal polyps. It has been reported that genetic variations in TBX21 are associated with susceptibility to asthma with nasal polyps and aspirin intolerance. Immune system disease TBX21 [HSA:30009] [KO:K10166]
PTGER2 [HSA:5732] [KO:K04259]
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