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Entry Name Description Category Pathway Gene
H01053 Paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene ... Hematologic disease (PNH1) PIGA [HSA:5277] [KO:K03857]
(PNH2) PIGT [HSA:51604] [KO:K05292]
H01486 Multiple congenital anomalies-hypotonia-seizures syndrome ... Anomalies-Hypotonia-Seizures Syndrome (MCAHS) comprises three phenotypes caused by mutations in PIGN, PIGA and PIGT respectively. PIGN and PIGT mutations lead to autosomal recessive disorders whereas PIGA ... Inherited metabolic disorder (MCAHS1) PIGN [HSA:23556] [KO:K05285]
(MCAHS2) PIGA [HSA:5277] [KO:K03857]
(MCAHS3) PIGT [HSA:51604] [KO:K05292]
(MCAHS4) PIGQ [HSA:9091] [KO:K03860]
H01489 Inherited glycosylphosphatidylinositol deficiencies
Glycosylphosphatidylinositol biosynthesis deficiency 		Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations ... Inherited metabolic disorder (GPIBD1) PIGM [HSA:93183] [KO:K05284]
(GPIBD2) PIGV [HSA:55650] [KO:K07542]
(GPIBD3) PIGN [HSA:23556] [KO:K05285]
(GPIBD4) PIGA [HSA:5277] [KO:K03857]
(GPIBD5) PIGL [HSA:9487] [KO:K03434]
(GPIBD6) PIGO [HSA:84720] [KO:K05288]
(GPIBD7) PIGT [HSA:51604] [KO:K05292]
(GPIBD8) PGAP2 [HSA:27315] [KO:K23552]
(GPIBD9) PGAP1 [HSA:80055] [KO:K05294]
(GPIBD10) PGAP3 [HSA:93210] [KO:K23553]
(GPIBD11) PIGW [HSA:284098] [KO:K05283]
(GPIBD12) PIGY [HSA:84992] [KO:K11001]
(GPIBD13) PIGG [HSA:54872] [KO:K05310]
(GPIBD14) PIGP [HSA:51227] [KO:K03861]
(GPIBD15) GPAA1 [HSA:8733] [KO:K05289]
(GPIBD16) PIGC [HSA:5279] [KO:K03859]
(GPIBD17) PIGH [HSA:5283] [KO:K03858]
(GPIBD18) PIGS [HSA:94005] [KO:K05291]
(GPIBD19) PIGQ [HSA:9091] [KO:K03860]
(GPIBD20) PIGB [HSA:9488] [KO:K05286]
(GPIBD21) PIGU [HSA:128869] [KO:K05293]
(GPIBD22) PIGK [HSA:10026] [KO:K05290]
(GPIBD25) C18orf32 [HSA:497661]
H01602 Gastroesophageal reflux disease ... acid regurgitation which have high specificity but low sensitivity for GERD. Atypical symptoms such as epigastric pain, dyspepsia, nausea, bloating, and belching may be suggestive of GERD but may overlap with ... Digestive system disease
H01634 Peptic ulcer ... It usually occurs in the stomach and proximal duodenum. Typical symptoms include episodic burning epigastric pain, loss of appetite, and weight loss. Pain usually occurs two to five hours after meals ... Digestive system disease
H01730 Myocardial infarction ... symptoms of MI include chest pain, which travels from left arm to neck, shortness of breath, nausea, epigastric discomfort, syncope, diaphoresis, and other factors. The diagnosis of MI is dependent on the ... Cardiovascular disease ESR1 [HSA:2099] [KO:K08550]
F13A1 [HSA:2162] [KO:K03917]
F7 [HSA:2155] [KO:K01320]
GCLC [HSA:2729] [KO:K11204]
GCLM [HSA:2730] [KO:K11205]
ITGB3 [HSA:3690] [KO:K06493]
LRP8 [HSA:7804] [KO:K20052]
LTA [HSA:4049] [KO:K05468]
OLR1 [HSA:4973] [KO:K08763]
PSMA6 [HSA:5687] [KO:K02730]
TNFSF4 [HSA:7292] [KO:K05469]
LGALS2 [HSA:3957] [KO:K10090]
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