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Entry Name Description Category Pathway Gene
H00768 Autosomal recessive mental retardation Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Although X-linked MR has been extensively studied, and over ... Mental and behavioural disorder hsa00513 Various types of N-glycan biosynthesis (MRT1) PRSS12 [HSA:8492] [KO:K09624]
(MRT2) CRBN [HSA:51185] [KO:K11793]
(MRT3) CC2D1A [HSA:54862] [KO:K18260]
(MRT5) NSUN2 [HSA:54888] [KO:K15335]
(MRT6) GRIK2 [HSA:2898] [KO:K05202]
(MRT7) TUSC3 [HSA:7991] [KO:K12669]
(MRT12) ST3GAL3 [HSA:6487] [KO:K00781]
(MRT13) TRAPPC9 [HSA:83696] [KO:K20306]
(MRT14) TECR [HSA:9524] [KO:K10258]
(MRT15) MAN1B1 [HSA:11253] [KO:K23741]
(MRT18) MED23 [HSA:9439] [KO:K15166]
(MRT27) LINS1 [HSA:55180] [KO:K22533]
(MRT34) CRADD [HSA:8738] [KO:K02832]
(MRT36) ADAT3 [HSA:113179] [KO:K15442]
(MRT37) ANK3 [HSA:288] [KO:K10380]
(MRT38) HERC2 [HSA:8924] [KO:K10595]
(MRT39) TTI2 [HSA:80185] [KO:K23115]
(MRT40) TAF2 [HSA:6873] [KO:K03128]
(MRT41) KPTN [HSA:11133] [KO:K23295]
(MRT42) PGAP1 [HSA:80055] [KO:K05294]
(MRT43) WASHC4 [HSA:23325] [KO:K18465]
(MRT44) METTL23 [HSA:124512] [KO:K23151]
(MRT45) FBXO31 [HSA:79791] [KO:K10308]
(MRT46) DNST1 [HSA:3340] [KO:K02576]
(MRT47) FMN2 [HSA:56776] [KO:K02184]
(MRT48) SLC6A17 [HSA:388662] [KO:K05048]
(MRT49) GPT2 [HSA:84706] [KO:K00814]
(MRT50) EDC3 [HSA:80153] [KO:K12615]
(MRT51) HNMT [HSA:3176] [KO:K00546]
(MRT52) LMAN2L [HSA:81562] [KO:K10083]
(MRT53) PIGG [HSA:54872] [KO:K05310]
(MRT54) TNIK [HSA:23043] [KO:K08840]
(MRT55) PUS3 [HSA:83480] [KO:K01855]
(MRT56) ZC3H14 [HSA:79882] [KO:K23038]
(MRT57) MBOAT7 [HSA:79143] [KO:K13516]
(MRT58) ELP2 [HSA:55250] [KO:K11374]
(MRT59) IMPA1 [HSA:3612] [KO:K01092]
(MRT60) TAF13 [HSA:6884] [KO:K03127]
(MRT61) RUSC2 [HSA:9853] [KO:K23291]
(MRT62) PIGC [HSA:5279] [KO:K03859]
(MRT63) CAMK2A [HSA:815] [KO:K04515]
(MRT64) LINGO1 [HSA:84894] [KO:K23533]
(MRT65) KDM5B [HSA:10765] [KO:K11446]
(MRT66) C12orf4 [HSA:57102]
(MRT67) EIF3F [HSA:8665] [KO:K03249]
(MRT68) TRMT1 [HSA:55621] [KO:K00555]
(MRT69) ZBTB11 [HSA:27107] [KO:K10498]
(MRT70) RSRC1 [HSA:51319]
(MRT71) ALKBH8 [HSA:91801] [KO:K10770]
(MRT72) METTL5 [HSA:29081] [KO:K24418]
H00933 Hereditary pancreatitis
Hereditary chronic pancreatitis
Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment ... Pancreas disease hsa04972 Pancreatic secretion
hsa04974 Protein digestion and absorption
hsa04971 Gastric acid secretion
hsa04976 Bile secretion
PRSS1 (gain of function) [HSA:5644] [KO:K01312]
SPINK1 (loss of function) [HSA:6690] [KO:K23417]
CFTR (polymorphism) [HSA:1080] [KO:K05031]
PRSS2 [HSA:5645] [KO:K01312]
CTRC (polymorphism) [HSA:11330] [KO:K01311]
H00988 Enterokinase deficiency
Enteropeptidase deficiency
Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates ... Congenital disorder of metabolism TMPRSS15 [HSA:5651] [KO:K01316]
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