[ Network menu | Network entry | Help ]

ENTRY	nt06550
Name	Lysosome biogenesis
Category	Pathway view; Cellular process
Pathway	hsa04142 Lysosome biogenesis
Disease	H01425 Lysosomal storage disease
Display	drug-target relation   disease type

N02013    LE(ER)+(CLN6+CLN8) = COPII+SAR1 → LE(Golgi)+CLN8 = COPI+ARF1 → CLN8(ER)     CLN6A/CLN6B CLN6*     CLN8 CLN8*     CLSD     SEC23A*     CDAN2/CWS7     SEC23B*     CLCRP2     SEC24D*     HPBKS     SEC31A*     AIAISD1             COPA*     MCPH19/OPDD             COPB2*     BARMACS             COPB1*     SSMG             ARCN1*     IMD128             COPG1*     SCN12             COPZ1*     PVNH8             ARF1*   N02014    LE-mannose − GNPT+LYSET → LE-M6P-GlcNac − NAGPA → LE-M6P = MPR     ML II/III     GNPTAB*     MLIIIC     GNPTG*     DMAN     LYSET*     HCC                     IGF2R* N02015    LE(TGN)+(MPR,SORT1.. = (AP-1+GGAs)+ARF1 = Clathrin → LE(endosome)+(MPR,..     USRIS     AP1G1*     KIDAR     AP1B1*     MEDNIK     AP1S1*     PGS     AP1S2*     PSORS15     AP1S3*     MRD56         CLTC* N02016    M6PR,SORT1(endosom.. − (RAB7A+CLN3+CLN5+R.. → M6PR,SORT1(TGN)     CMT2B     RAB7A*     CLN3     CLN3*     CLN5     CLN5*     PARK17     VPS35* N02017    MPR(endosome) − (AP-5+SPG11+ZFYVE2.. → MPR(TGN)     SPG48     AP5Z1*     ALS5/CMT2X/SPG11     SPG11*     SPG15     ZFYVE26*   N02018    LAMP1(endosome) − (AP-3+BLOC1) → LAMP1(lyso)     HPS10     AP3D1*     HPS2     AP3B1*     DEE48     AP3B2*     HPS8     BLOC1S3*     HPS11     BLOC1S5*     HPS9     BLOC1S6*     NEDBAC     SNAPIN*     HPS7     DTNBP1* N02019    CD63,TYRP1,OCA2(en.. − (AP-3+BLOC1) → CD63,TYRP1,OCA2(me..     OCA3     TYRP1*     OCA2     OCA2*   N02020    GCase(ER) − (SCARB2+AP-1) → GCase(endosome) − (SCARB2+AP-3) → GCase(lyso)     EPM4     SCARB2*   N02021    RAB7A+CLN3 = PLKHM1 = HOPS = LC3     OPTA3/B6     PLKHM1*     SCAR29         VPS41*     HLD12/DYT32         VPS11*     DYT30         VPS16*     MPSPS         VPS33A* N02022    RAB7A+EPG5 = VAMP8 = SNAP29 = STX17     VICIS/NEDPAM EPG5*     CEDNIK         SNAP29*

		Disease name	Disease category
CLN6A/CLN6B	H00149	Neuronal ceroid lipofuscinosis	Inherited metabolic disorder, Lysosomal disease
	H02276	Kufs disease	Inherited metabolic disorder, Lysosomal disease
CLN8	H00149	Neuronal ceroid lipofuscinosis	Inherited metabolic disorder, Lysosomal disease
CLSD	H01105	Cranio-lenticulo-sutural dysplasia	Congenital malformation
CDAN2/CWS7	H00917	Congenital dyserythropoietic anemia	Hematologic disease
	H01222	Cowden syndrome	Congenital malformation
CLCRP2	H01572	Cole-Carpenter syndrome	Congenital malformation
HPBKS	H03035	Halperin-Birk syndrome	Congenital malformation
AIAISD1	H03012	Autoinflammation and autoimmunity, systemic, with immune dysregulation	Immune system disease
MCPH19/OPDD	H00269	Primary microcephaly	Congenital malformation
	H03036	Childhood- or juvenile-onset osteoporosis with developmental delay	Musculoskeletal disease
BARMACS	H02708	Baralle-Macken syndrome	Congenital malformation
SSMG	H03039	Short stature-micrognathia syndrome	Congenital malformation
IMD128	H00093	Combined immunodeficiency	Primary immunodeficiency
SCN12	H00100	Neutropenic disorders	Primary immunodeficiency
PVNH8	H00270	Periventricular nodular heterotopia	Congenital malformation
ML II/III	H00143	Mucolipidosis II	Inherited metabolic disorder, Lysosomal disease
	H02130	Mucolipidosis III	Inherited metabolic disorder, Lysosomal disease
MLIIIC	H02130	Mucolipidosis III	Inherited metabolic disorder, Lysosomal disease
DMAN	H02729	Ain-Naz type of dysostosis multiplex	Congenital malformation
HCC	H00048	Hepatocellular carcinoma	Cancer
USRIS	H02692	Usmani-Riazuddin syndrome	Nervous system disease
KIDAR	H00712	KID/HID syndrome	Congenital malformation
MEDNIK	H02220	MEDNIK syndrome	Congenital malformation
PGS	H03038	Pettigrew syndrome	Congenital malformation
PSORS15	H01656	Psoriasis	Immune system disease
MRD56	H00773	Autosomal dominant intellectual developmental disorder	Mental and behavioural disorder
CMT2B	H00264	Charcot-Marie-Tooth disease	Neurodegenerative disease
CLN3	H02275	Batten disease	Inherited metabolic disorder, Lysosomal disease
CLN5	H00149	Neuronal ceroid lipofuscinosis	Inherited metabolic disorder, Lysosomal disease
PARK17	H00057	Parkinson disease	Neurodegenerative disease
SPG48	H00266	Hereditary spastic paraplegia	Nervous system disease
ALS5/CMT2X/SPG11	H00058	Amyotrophic lateral sclerosis (ALS)	Neurodegenerative disease
	H00264	Charcot-Marie-Tooth disease	Neurodegenerative disease
	H00266	Hereditary spastic paraplegia	Nervous system disease
SPG15	H00266	Hereditary spastic paraplegia	Nervous system disease
HPS10	H00166	Hermansky-Pudlak syndrome	Inherited metabolic disorder
HPS2	H00166	Hermansky-Pudlak syndrome	Inherited metabolic disorder
DEE48	H00606	Early infantile epileptic encephalopathy	Nervous system disease
HPS8	H00166	Hermansky-Pudlak syndrome	Inherited metabolic disorder
HPS11	H00166	Hermansky-Pudlak syndrome	Inherited metabolic disorder
HPS9	H00166	Hermansky-Pudlak syndrome	Inherited metabolic disorder
NEDBAC	H03044	Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities	Congenital malformation
HPS7	H00166	Hermansky-Pudlak syndrome	Inherited metabolic disorder
OCA3	H00168	Oculocutaneous albinism	Inherited metabolic disorder
OCA2	H00168	Oculocutaneous albinism	Inherited metabolic disorder
EPM4	H00810	Progressive myoclonic epilepsy	Nervous system disease
OPTA3/B6	H00436	Osteopetrosis	Congenital malformation
SCAR29	H01891	Autosomal recessive spinocerebellar ataxias	Neurodegenerative disease
HLD12/DYT32	H00679	Hypomyelinating leukodystrophy	Inherited metabolic disorder
	H00831	Primary dystonia	Nervous system disease
DYT30	H00831	Primary dystonia	Nervous system disease
MPSPS	H02205	Mucopolysaccharidosis-plus syndrome	Inherited metabolic disorder
VICIS/NEDPAM	H02133	Vici syndrome	Immune system disease
	H03045	Neurodevelopmental disorder with parkinsonism or other movement abnormalities	Congenital malformation
CEDNIK	H00799	CEDNIK syndrome	Congenital malformation