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ENTRY	nt06547
Name	Spliceosome
Category	Pathway view; Replication, repair and transcription
Pathway	hsa03040 Spliceosome
Disease	H00455 Spinal muscular atrophy H00527 Retinitis pigmentosa
Display	drug-target relation   disease type

N01963    (preU1snRNA+SNRNP7.. = SMN = SmCore − TOE1 → preU1snRNP     SMA1/2/3/4     SMN1*     SMA3     SMN2*↗     NEDMCR     GEMIN4*     NEDCAM     GEMIN5*     CCMS         SNRPB*     HYPT11         SNRPE*     PCH7             TOE1* N01964    m7G-preU1snRNP − TGS1 → TmG-preU1snRNP − SNUPN+KPNB1 → TmG-preU1snRNP(nuc.. = (SNRPA+SNRPC)     LGMDR29             SNUPN*   N01968    pre-mRNA+CBP+hnRNP.. = SF1+U2AF → Ecomplex = U2snRNP − DDX46+DDX39B → Acomplex     ALS6/ETM4 FUS*     ALS20/MPD3/IBMPFD3 HNRNPA1*     LGMDD3 HNRNPDL*     MRD74 HNRNPC*     ORMD2/IBMPFD2 HNRNPA2B1*     NEDCDS HNRNPH1*     MRXSB HNRNPH2*     AUKS HNRNPK*     NEDDFSB HNRNPR*     DEE54 HNRNPU*     MRXSSH/MRXSG RBMX*     DEVDFB     U2AF2*     VRJS     PUF60*     CFM1             SF3B2*     AFD1             SF3B4*   N01969    (U4snRNA+snu13+Sm).. = (PRPF3+RP9)+PRPF4+.. → U4/U6snRNP = U5snRNP → U4/U6-U5snRNP     RENU RNU4-2*     LDCA LSM7*     RP18     PRPF3*     RP9     RP9*     RP70     PRPF4*     RP11     PRPF31*     NEDSJL             RNU5B*     MFDM             EFTUD2*     RP60             PRPF6*     RP13             PRPF8*     RP33             SNRNP200*     BMKS             TXNL4A*   N01970    Acomplex+U4/U6-U5s.. → PreBcomplex = PRPF38A+MFAP1+ZMAT.. − PRP28 → Bcomplex     NEDHFDB         WBP4*   N01971    Bcomlex = DHX16+CWC22+RNF113.. − SNRNP200+EFTUD2 → Bact     NMOAS     DHX16*     TTD5     RNF113A*     RPSKA     CWC27*     IMD99     CTNNBL1*     RENS1     PQBP1*     VCTERL     WBP11*     PCH14     PPIL1*     ACHPS     BUD13*     NEDHCS     SNIP1*     MRD72     SRRM2*   N01972    Bact = DHX38+YJU2+CWC25+I.. − DHX16 → B*complex = EJC − CWC25+YJU2 → Ccomplex     RCPS                 EIF4A3*     TAR                 RBM8A*   N01993    Ccomplex = DHX8+PRKRIP1+SLU7 − DHX38+CDC40+PRPF18.. → C*complex = CACTIN+FAM32A+SDE2.. → Pcomplex     RP84         DHX38*     PCH15         CDC40*     MRXSHD                 NKAP*   N01994    Pcomplex = CWF19L2 − DHX8 → ILScomplex+(mRNA+E.. − DHX15 → IntronLariat+U2SnR..   N01995    mRNA+EJC = TREX+SR+CFIm+ZC3H3.. − (NXF1+NXT1) → mRNP     DFNA86     THOC1*     XLID12/AMC7     THOC2*     BBIS     THOC6*     OPMD1     PABPN1*

		Disease name	Disease category
SMA1/2/3/4	H00455	Spinal muscular atrophy	Neurodegenerative disease
SMA3	H00455	Spinal muscular atrophy	Neurodegenerative disease
NEDMCR	H02986	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	Congenital malformation
NEDCAM	H02987	Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction	Congenital malformation
CCMS	H01843	Cerebrocostomandibular syndrome	Congenital malformation
HYPT11	H00786	Hypotrichosis	Skin disease
PCH7	H00897	Pontocerebellar hypoplasia	Congenital malformation
LGMDR29	H00593	Limb-girdle muscular dystrophy	Nervous system disease
ALS6/ETM4	H00058	Amyotrophic lateral sclerosis (ALS)	Neurodegenerative disease
	H01577	Essential tremor	Nervous system disease
ALS20/MPD3/IBMPFD3	H00058	Amyotrophic lateral sclerosis (ALS)	Neurodegenerative disease
	H00594	Distal myopathy	Nervous system disease
	H02031	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Nervous system disease
LGMDD3	H00593	Limb-girdle muscular dystrophy	Nervous system disease
MRD74	H00773	Autosomal dominant intellectual developmental disorder	Mental and behavioural disorder
ORMD2/IBMPFD2	H00704	Oculopharyngeal muscular dystrophy	Nervous system disease
	H02031	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	Nervous system disease
NEDCDS	H03017	Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects	Congenital malformation
MRXSB	H00658	X-linked syndromic intellectual developmental disorder	Mental and behavioural disorder
AUKS	H01930	Au-Kline syndrome	Congenital malformation
NEDDFSB	H03018	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	Congenital malformation
DEE54	H00606	Early infantile epileptic encephalopathy	Nervous system disease
MRXSSH/MRXSG	H00658	X-linked syndromic intellectual developmental disorder	Mental and behavioural disorder
DEVDFB	H02993	Developmental delay, dysmorphic facies, and brain anomalies	Congenital malformation
VRJS	H01800	Verheij syndrome	Congenital malformation
CFM1	H02673	Craniofacial microsomia	Congenital malformation
AFD1	H01376	Acrofacial dysostosis	Congenital malformation
RENU	H02804	ReNU syndrome	Congenital malformation
LDCA	H02983	Leukodystrophy and cerebellar atrophy	Congenital malformation
RP18	H00527	Retinitis pigmentosa	Nervous system disease
RP9	H00527	Retinitis pigmentosa	Nervous system disease
RP70	H00527	Retinitis pigmentosa	Nervous system disease
RP11	H00527	Retinitis pigmentosa	Nervous system disease
NEDSJL	H02997	Neurodevelopmental disorder with seizures and joint laxity	Congenital malformation
MFDM	H01838	Mandibulofacial dysostosis with microcephaly	Congenital malformation
RP60	H00527	Retinitis pigmentosa	Nervous system disease
RP13	H00527	Retinitis pigmentosa	Nervous system disease
RP33	H00527	Retinitis pigmentosa	Nervous system disease
BMKS	H01839	Burn-McKeown syndrome	Congenital malformation
NEDHFDB	H02998	Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities	Congenital malformation
NMOAS	H02745	Neuromuscular oculoauditory syndrome	Congenital malformation
TTD5	H00866	Trichothiodystrophy	Skin disease
RPSKA	H02422	Retinitis pigmentosa with skeletal anomalies	Congenital malformation
IMD99	H02526	Disorders of adaptive immunity	Immune system disease
RENS1	H01913	Renpenning syndrome	Congenital malformation
VCTERL	H01195	VACTERL/VATER association	Congenital malformation
PCH14	H00897	Pontocerebellar hypoplasia	Congenital malformation
ACHPS	H02912	Achalasia-progeroid syndrome	Congenital malformation
NEDHCS	H03019	Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures	Congenital malformation
MRD72	H00773	Autosomal dominant intellectual developmental disorder	Mental and behavioural disorder
RCPS	H02503	Richieri-Costa-Pereira syndrome	Congenital malformation
TAR	H01847	Thrombocytopenia-absent radius syndrome	Congenital malformation
RP84	H00527	Retinitis pigmentosa	Nervous system disease
PCH15	H00897	Pontocerebellar hypoplasia	Congenital malformation
MRXSHD	H00658	X-linked syndromic intellectual developmental disorder	Mental and behavioural disorder
DFNA86	H00604	Deafness, autosomal dominant	Nervous system disease
XLID12/AMC7	H00480	X-linked intellectual developmental disorder	Mental and behavioural disorder
	H02299	Arthrogryposis multiplex congenita	Congenital malformation
BBIS	H02253	Beaulieu-Boycott-Innes syndrome	Congenital malformation
OPMD1	H00704	Oculopharyngeal muscular dystrophy	Nervous system disease