Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5476
Gene name	Cathepsin A
Gene symbol	CTSA
Synonyms (NCBI Gene)	GLB2GSLNGBEPPCAPPGB
Chromosome	20
Chromosome location	20q13.12
Summary	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that c

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137854540	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137854543	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137854544	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137854546	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137854547	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137854548	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137854549	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs142892564	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs786200859	A>G	Pathogenic	Intron variant
rs875989777	AT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1337995343	C>G,T	Pathogenic	Intron variant
rs1601142505	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

266

Show/Hide all (266)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020678	hsa-miR-155-5p	Proteomics	18668040
MIRT051616	hsa-let-7e-5p	CLASH	23622248
MIRT050910	hsa-miR-17-5p	CLASH	23622248
MIRT050564	hsa-miR-20a-5p	CLASH	23622248
MIRT045850	hsa-miR-130a-3p	CLASH	23622248
MIRT041135	hsa-miR-503-5p	CLASH	23622248
MIRT036107	hsa-miR-1296-5p	CLASH	23622248
MIRT915441	hsa-miR-106a	CLIP-seq
MIRT915442	hsa-miR-106b	CLIP-seq
MIRT915443	hsa-miR-1205	CLIP-seq
MIRT915444	hsa-miR-1234	CLIP-seq
MIRT915445	hsa-miR-127-5p	CLIP-seq
MIRT915446	hsa-miR-142-5p	CLIP-seq
MIRT915447	hsa-miR-17	CLIP-seq
MIRT915448	hsa-miR-1909	CLIP-seq
MIRT915449	hsa-miR-1910	CLIP-seq
MIRT915450	hsa-miR-20a	CLIP-seq
MIRT915451	hsa-miR-20b	CLIP-seq
MIRT915452	hsa-miR-302a	CLIP-seq
MIRT915453	hsa-miR-302b	CLIP-seq
MIRT915454	hsa-miR-302c	CLIP-seq
MIRT915455	hsa-miR-302d	CLIP-seq
MIRT915456	hsa-miR-302e	CLIP-seq
MIRT915457	hsa-miR-3192	CLIP-seq
MIRT915458	hsa-miR-3609	CLIP-seq
MIRT915459	hsa-miR-361-3p	CLIP-seq
MIRT915460	hsa-miR-372	CLIP-seq
MIRT915461	hsa-miR-373	CLIP-seq
MIRT915462	hsa-miR-4313	CLIP-seq
MIRT915463	hsa-miR-4688	CLIP-seq
MIRT915464	hsa-miR-4718	CLIP-seq
MIRT915465	hsa-miR-4734	CLIP-seq
MIRT915466	hsa-miR-4796-3p	CLIP-seq
MIRT915467	hsa-miR-519d	CLIP-seq
MIRT915468	hsa-miR-520a-3p	CLIP-seq
MIRT915469	hsa-miR-520b	CLIP-seq
MIRT915470	hsa-miR-520c-3p	CLIP-seq
MIRT915471	hsa-miR-520d-3p	CLIP-seq
MIRT915472	hsa-miR-520e	CLIP-seq
MIRT915473	hsa-miR-548ah	CLIP-seq
MIRT915474	hsa-miR-587	CLIP-seq
MIRT915475	hsa-miR-873	CLIP-seq
MIRT915476	hsa-miR-93	CLIP-seq
MIRT915441	hsa-miR-106a	CLIP-seq
MIRT915442	hsa-miR-106b	CLIP-seq
MIRT915443	hsa-miR-1205	CLIP-seq
MIRT915477	hsa-miR-1267	CLIP-seq
MIRT915478	hsa-miR-1343	CLIP-seq
MIRT915446	hsa-miR-142-5p	CLIP-seq
MIRT915479	hsa-miR-148a	CLIP-seq
MIRT915480	hsa-miR-148b	CLIP-seq
MIRT915481	hsa-miR-152	CLIP-seq
MIRT915447	hsa-miR-17	CLIP-seq
MIRT915448	hsa-miR-1909	CLIP-seq
MIRT915482	hsa-miR-1972	CLIP-seq
MIRT915450	hsa-miR-20a	CLIP-seq
MIRT915451	hsa-miR-20b	CLIP-seq
MIRT915483	hsa-miR-296-5p	CLIP-seq
MIRT915484	hsa-miR-3147	CLIP-seq
MIRT915485	hsa-miR-3154	CLIP-seq
MIRT915486	hsa-miR-3184	CLIP-seq
MIRT915457	hsa-miR-3192	CLIP-seq
MIRT915458	hsa-miR-3609	CLIP-seq
MIRT915487	hsa-miR-3689a-3p	CLIP-seq
MIRT915488	hsa-miR-3689c	CLIP-seq
MIRT915489	hsa-miR-3919	CLIP-seq
MIRT915490	hsa-miR-3940-5p	CLIP-seq
MIRT915491	hsa-miR-423-5p	CLIP-seq
MIRT915492	hsa-miR-4292	CLIP-seq
MIRT915493	hsa-miR-4425	CLIP-seq
MIRT915494	hsa-miR-4505	CLIP-seq
MIRT915495	hsa-miR-4507	CLIP-seq
MIRT915496	hsa-miR-4640-5p	CLIP-seq
MIRT915463	hsa-miR-4688	CLIP-seq
MIRT915497	hsa-miR-4711-5p	CLIP-seq
MIRT915498	hsa-miR-4717-5p	CLIP-seq
MIRT915499	hsa-miR-4725-5p	CLIP-seq
MIRT915500	hsa-miR-4726-5p	CLIP-seq
MIRT915501	hsa-miR-4728-5p	CLIP-seq
MIRT915465	hsa-miR-4734	CLIP-seq
MIRT915502	hsa-miR-4755-3p	CLIP-seq
MIRT915503	hsa-miR-4761-3p	CLIP-seq
MIRT915504	hsa-miR-4781-5p	CLIP-seq
MIRT915466	hsa-miR-4796-3p	CLIP-seq
MIRT915505	hsa-miR-4796-5p	CLIP-seq
MIRT915506	hsa-miR-485-5p	CLIP-seq
MIRT915507	hsa-miR-504	CLIP-seq
MIRT915467	hsa-miR-519d	CLIP-seq
MIRT915473	hsa-miR-548ah	CLIP-seq
MIRT915474	hsa-miR-587	CLIP-seq
MIRT915475	hsa-miR-873	CLIP-seq
MIRT915476	hsa-miR-93	CLIP-seq
MIRT915478	hsa-miR-1343	CLIP-seq
MIRT915479	hsa-miR-148a	CLIP-seq
MIRT915480	hsa-miR-148b	CLIP-seq
MIRT915481	hsa-miR-152	CLIP-seq
MIRT915497	hsa-miR-4711-5p	CLIP-seq
MIRT915503	hsa-miR-4761-3p	CLIP-seq
MIRT1971501	hsa-miR-1200	CLIP-seq
MIRT915477	hsa-miR-1267	CLIP-seq
MIRT915478	hsa-miR-1343	CLIP-seq
MIRT915479	hsa-miR-148a	CLIP-seq
MIRT915480	hsa-miR-148b	CLIP-seq
MIRT915481	hsa-miR-152	CLIP-seq
MIRT1971502	hsa-miR-1587	CLIP-seq
MIRT915449	hsa-miR-1910	CLIP-seq
MIRT915482	hsa-miR-1972	CLIP-seq
MIRT915483	hsa-miR-296-5p	CLIP-seq
MIRT915484	hsa-miR-3147	CLIP-seq
MIRT915486	hsa-miR-3184	CLIP-seq
MIRT915457	hsa-miR-3192	CLIP-seq
MIRT1971503	hsa-miR-339-5p	CLIP-seq
MIRT1971504	hsa-miR-3670	CLIP-seq
MIRT915487	hsa-miR-3689a-3p	CLIP-seq
MIRT915488	hsa-miR-3689c	CLIP-seq
MIRT915490	hsa-miR-3940-5p	CLIP-seq
MIRT915491	hsa-miR-423-5p	CLIP-seq
MIRT1971505	hsa-miR-4265	CLIP-seq
MIRT1971506	hsa-miR-4275	CLIP-seq
MIRT1971507	hsa-miR-4296	CLIP-seq
MIRT1971508	hsa-miR-4322	CLIP-seq
MIRT1971509	hsa-miR-4324	CLIP-seq
MIRT1971510	hsa-miR-4417	CLIP-seq
MIRT915493	hsa-miR-4425	CLIP-seq
MIRT1971511	hsa-miR-4487	CLIP-seq
MIRT1971512	hsa-miR-4492	CLIP-seq
MIRT1971513	hsa-miR-4498	CLIP-seq
MIRT915494	hsa-miR-4505	CLIP-seq
MIRT915495	hsa-miR-4507	CLIP-seq
MIRT1971514	hsa-miR-4633-3p	CLIP-seq
MIRT1971515	hsa-miR-4650-5p	CLIP-seq
MIRT1971516	hsa-miR-4656	CLIP-seq
MIRT1971517	hsa-miR-4675	CLIP-seq
MIRT915497	hsa-miR-4711-5p	CLIP-seq
MIRT915501	hsa-miR-4728-5p	CLIP-seq
MIRT1971518	hsa-miR-4741	CLIP-seq
MIRT915504	hsa-miR-4781-5p	CLIP-seq
MIRT915506	hsa-miR-485-5p	CLIP-seq
MIRT1971519	hsa-miR-544b	CLIP-seq
MIRT915474	hsa-miR-587	CLIP-seq
MIRT1971520	hsa-miR-622	CLIP-seq
MIRT1971521	hsa-miR-762	CLIP-seq
MIRT915477	hsa-miR-1267	CLIP-seq
MIRT915478	hsa-miR-1343	CLIP-seq
MIRT915479	hsa-miR-148a	CLIP-seq
MIRT915480	hsa-miR-148b	CLIP-seq
MIRT915481	hsa-miR-152	CLIP-seq
MIRT915482	hsa-miR-1972	CLIP-seq
MIRT915483	hsa-miR-296-5p	CLIP-seq
MIRT915484	hsa-miR-3147	CLIP-seq
MIRT915486	hsa-miR-3184	CLIP-seq
MIRT915457	hsa-miR-3192	CLIP-seq
MIRT915487	hsa-miR-3689a-3p	CLIP-seq
MIRT915488	hsa-miR-3689c	CLIP-seq
MIRT915490	hsa-miR-3940-5p	CLIP-seq
MIRT915491	hsa-miR-423-5p	CLIP-seq
MIRT1971506	hsa-miR-4275	CLIP-seq
MIRT915493	hsa-miR-4425	CLIP-seq
MIRT1971511	hsa-miR-4487	CLIP-seq
MIRT915494	hsa-miR-4505	CLIP-seq
MIRT915495	hsa-miR-4507	CLIP-seq
MIRT1971514	hsa-miR-4633-3p	CLIP-seq
MIRT1971515	hsa-miR-4650-5p	CLIP-seq
MIRT915497	hsa-miR-4711-5p	CLIP-seq
MIRT915501	hsa-miR-4728-5p	CLIP-seq
MIRT915503	hsa-miR-4761-3p	CLIP-seq
MIRT2207277	hsa-miR-582-5p	CLIP-seq
MIRT1971520	hsa-miR-622	CLIP-seq
MIRT915482	hsa-miR-1972	CLIP-seq
MIRT915485	hsa-miR-3154	CLIP-seq
MIRT915489	hsa-miR-3919	CLIP-seq
MIRT1971511	hsa-miR-4487	CLIP-seq
MIRT2386577	hsa-miR-4503	CLIP-seq
MIRT1971514	hsa-miR-4633-3p	CLIP-seq
MIRT915496	hsa-miR-4640-5p	CLIP-seq
MIRT1971515	hsa-miR-4650-5p	CLIP-seq
MIRT915497	hsa-miR-4711-5p	CLIP-seq
MIRT915498	hsa-miR-4717-5p	CLIP-seq
MIRT915500	hsa-miR-4726-5p	CLIP-seq
MIRT915502	hsa-miR-4755-3p	CLIP-seq
MIRT915503	hsa-miR-4761-3p	CLIP-seq
MIRT915441	hsa-miR-106a	CLIP-seq
MIRT915442	hsa-miR-106b	CLIP-seq
MIRT915446	hsa-miR-142-5p	CLIP-seq
MIRT915447	hsa-miR-17	CLIP-seq
MIRT915449	hsa-miR-1910	CLIP-seq
MIRT915482	hsa-miR-1972	CLIP-seq
MIRT915450	hsa-miR-20a	CLIP-seq
MIRT915451	hsa-miR-20b	CLIP-seq
MIRT915483	hsa-miR-296-5p	CLIP-seq
MIRT915452	hsa-miR-302a	CLIP-seq
MIRT915453	hsa-miR-302b	CLIP-seq
MIRT915454	hsa-miR-302c	CLIP-seq
MIRT915455	hsa-miR-302d	CLIP-seq
MIRT915456	hsa-miR-302e	CLIP-seq
MIRT915485	hsa-miR-3154	CLIP-seq
MIRT915457	hsa-miR-3192	CLIP-seq
MIRT915458	hsa-miR-3609	CLIP-seq
MIRT915459	hsa-miR-361-3p	CLIP-seq
MIRT915460	hsa-miR-372	CLIP-seq
MIRT915461	hsa-miR-373	CLIP-seq
MIRT915489	hsa-miR-3919	CLIP-seq
MIRT915492	hsa-miR-4292	CLIP-seq
MIRT915462	hsa-miR-4313	CLIP-seq
MIRT2386577	hsa-miR-4503	CLIP-seq
MIRT915496	hsa-miR-4640-5p	CLIP-seq
MIRT915498	hsa-miR-4717-5p	CLIP-seq
MIRT915499	hsa-miR-4725-5p	CLIP-seq
MIRT915500	hsa-miR-4726-5p	CLIP-seq
MIRT915465	hsa-miR-4734	CLIP-seq
MIRT915502	hsa-miR-4755-3p	CLIP-seq
MIRT915503	hsa-miR-4761-3p	CLIP-seq
MIRT915466	hsa-miR-4796-3p	CLIP-seq
MIRT915505	hsa-miR-4796-5p	CLIP-seq
MIRT915507	hsa-miR-504	CLIP-seq
MIRT915467	hsa-miR-519d	CLIP-seq
MIRT915468	hsa-miR-520a-3p	CLIP-seq
MIRT915469	hsa-miR-520b	CLIP-seq
MIRT915470	hsa-miR-520c-3p	CLIP-seq
MIRT915471	hsa-miR-520d-3p	CLIP-seq
MIRT915472	hsa-miR-520e	CLIP-seq
MIRT915473	hsa-miR-548ah	CLIP-seq
MIRT1971520	hsa-miR-622	CLIP-seq
MIRT2510337	hsa-miR-626	CLIP-seq
MIRT915475	hsa-miR-873	CLIP-seq
MIRT915476	hsa-miR-93	CLIP-seq
MIRT915441	hsa-miR-106a	CLIP-seq
MIRT915442	hsa-miR-106b	CLIP-seq
MIRT915443	hsa-miR-1205	CLIP-seq
MIRT915444	hsa-miR-1234	CLIP-seq
MIRT915446	hsa-miR-142-5p	CLIP-seq
MIRT915447	hsa-miR-17	CLIP-seq
MIRT915448	hsa-miR-1909	CLIP-seq
MIRT915449	hsa-miR-1910	CLIP-seq
MIRT915450	hsa-miR-20a	CLIP-seq
MIRT915451	hsa-miR-20b	CLIP-seq
MIRT915483	hsa-miR-296-5p	CLIP-seq
MIRT915452	hsa-miR-302a	CLIP-seq
MIRT915453	hsa-miR-302b	CLIP-seq
MIRT915454	hsa-miR-302c	CLIP-seq
MIRT915455	hsa-miR-302d	CLIP-seq
MIRT915456	hsa-miR-302e	CLIP-seq
MIRT915457	hsa-miR-3192	CLIP-seq
MIRT915458	hsa-miR-3609	CLIP-seq
MIRT915459	hsa-miR-361-3p	CLIP-seq
MIRT915460	hsa-miR-372	CLIP-seq
MIRT915461	hsa-miR-373	CLIP-seq
MIRT915492	hsa-miR-4292	CLIP-seq
MIRT915462	hsa-miR-4313	CLIP-seq
MIRT915463	hsa-miR-4688	CLIP-seq
MIRT915499	hsa-miR-4725-5p	CLIP-seq
MIRT915465	hsa-miR-4734	CLIP-seq
MIRT915466	hsa-miR-4796-3p	CLIP-seq
MIRT915505	hsa-miR-4796-5p	CLIP-seq
MIRT915507	hsa-miR-504	CLIP-seq
MIRT915467	hsa-miR-519d	CLIP-seq
MIRT915468	hsa-miR-520a-3p	CLIP-seq
MIRT915469	hsa-miR-520b	CLIP-seq
MIRT915470	hsa-miR-520c-3p	CLIP-seq
MIRT915471	hsa-miR-520d-3p	CLIP-seq
MIRT915472	hsa-miR-520e	CLIP-seq
MIRT915473	hsa-miR-548ah	CLIP-seq
MIRT1971520	hsa-miR-622	CLIP-seq
MIRT2510337	hsa-miR-626	CLIP-seq
MIRT915475	hsa-miR-873	CLIP-seq
MIRT915476	hsa-miR-93	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004180	Function	Carboxypeptidase activity	TAS	2244901
GO:0004185	Function	Serine-type carboxypeptidase activity	IBA
GO:0004185	Function	Serine-type carboxypeptidase activity	IEA
GO:0004185	Function	Serine-type carboxypeptidase activity	IMP	1907282, 12505983
GO:0005576	Component	Extracellular region	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	NAS	3136930
GO:0005783	Component	Endoplasmic reticulum	TAS	1387645
GO:0006508	Process	Proteolysis	IDA	12505983
GO:0006508	Process	Proteolysis	IEA
GO:0006886	Process	Intracellular protein transport	TAS	1387645
GO:0008047	Function	Enzyme activator activity	TAS	3107551
GO:0008233	Function	Peptidase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031647	Process	Regulation of protein stability	IMP	12505983
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0098575	Component	Lumenal side of lysosomal membrane	TAS	20176123
GO:1904714	Process	Regulation of chaperone-mediated autophagy	TAS	20176123
GO:1904715	Process	Negative regulation of chaperone-mediated autophagy	IEA
GO:1904715	Process	Negative regulation of chaperone-mediated autophagy	IGI	12505983

MIM	HGNC	e!Ensembl
613111	9251	ENSG00000064601

P10619

Protein name

Lysosomal protective protein (EC 3.4.16.5) (Carboxypeptidase C) (Carboxypeptidase L) (Cathepsin A) (Protective protein cathepsin A) (PPCA) (Protective protein for beta-galactosidase) [Cleaved into: Lysosomal protective protein 32 kDa chain; Lysosomal prot

Protein function

Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carbox

PDB

1IVY , 3BP4 , 3BP7 , 3BXN , 4AZ0 , 4AZ3 , 4CI9 , 4CIA , 4CIB , 4MWS , 4MWT , 6WIA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00450	Peptidase_S10	39 → 477	Serine carboxypeptidase	Domain

Sequence

MIRAAPPPLFLLLLLLLLLVSWASRGEAAPDQDEIQRLPGLAKQPSFRQYSGYLKGSGSK
HLHYWFVESQKDPENSPVVLWLNGGPGCSSLDGLLTEHGPFLVQPDGVTLEYNPYSWNLI
ANVLYLESPAGVGFSYSDDKFYATNDTEVAQSNFEALQDFFRLFPEYKNNKLFLTGESYA
GIYIPTLAVLVMQDPSMNLQGLAVGNGLSSYEQNDNSLVYFAYYHGLLGNRLWSSLQTHC
CSQNKCNFYDNKDLECVTNLQEVARIVGNSGLNIYNLYAPCAGGVPSHFRYEKDTVVVQD
LGNIFTRLPLKRMWHQALLRSGDKVRMDPPCTNTTAASTYLNNPYVRKALNIPEQLPQWD
MCNFLVNLQYRRLYRSMNSQYLKLLSSQKYQILLYNGDVDMACNFMGDEWFVDSLNQKME
VQRRPWLVKYGDSGEQIAGFVKEFSHIAFLTIKGAGHMVPTDKPLAAFTMFSRFLNKQPY

Sequence length

480

Interactions

View interactions

	KEGG		Reactome
	Lysosome Renin-angiotensin system		Glycosphingolipid metabolism MHC class II antigen presentation Sialic acid metabolism Defective NEU1 causes sialidosis Neutrophil degranulation

551

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of prenatal development or birth	Likely pathogenic; Pathogenic	rs200565348	RCV001814438
Combined deficiency of sialidase AND beta galactosidase	Pathogenic; Likely pathogenic	rs745743780, rs1189568492, rs587779402, rs750928198, rs200565348, rs2145815915, rs2083116648, rs1311180360, rs979557944, rs137854540, rs786200859, rs137854541, rs28934603, rs137854542, rs137854543 View all (43 more)	RCV001386979 RCV001380689 RCV000087089 RCV001420871 RCV002471118 RCV001847318 RCV001780592 RCV002037786 RCV001972441 RCV001851509 RCV000308111 RCV000000408 RCV000000409 RCV000000410 RCV000000411 RCV000000412 RCV001526984 RCV002269799 RCV002283868 RCV002301976 RCV001844064 RCV003116531 RCV002634479 RCV002962403 RCV003030076 RCV003026228 RCV000211118 RCV003496348 RCV003497132 RCV003495008 RCV003495093 RCV003495761 RCV003495816 RCV003495619 RCV003495722 RCV003598207 RCV003598435 RCV003598425 RCV003599302 RCV003599419 RCV003599476 RCV003599507 RCV003599591 RCV003599645 RCV003597901 RCV003598561 RCV003829208 RCV003858799 RCV003874070 RCV003870427 RCV003985979 RCV000360484 RCV000779348 RCV000985155 RCV001174733 RCV001241786 RCV001251047 RCV003598046 RCV001260321 RCV005409282
GALACTOSIALIDOSIS, ADULT	Pathogenic	rs786200859	RCV000000407
GALACTOSIALIDOSIS, EARLY INFANTILE	Pathogenic	rs137854546	RCV000000415
GALACTOSIALIDOSIS, LATE INFANTILE	Likely pathogenic; Pathogenic	rs137854540, rs137854544, rs137854548, rs769812697, rs137854549, rs1337995343	RCV000000406 RCV000000413 RCV000000417 RCV000000418 RCV000000419 RCV000000420
Malignant tumor of urinary bladder	Pathogenic	rs757912971	RCV005934987
Non-immune hydrops fetalis	Likely pathogenic	rs786205670	RCV000170578
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs778159802	RCV005912117

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs748681475	RCV005930363
BRAIN SMALL VESSEL DISEASE 6 WITH LEUKOENCEPHALOPATHY	Uncertain significance	rs2145819152	RCV006249238
Cathepsin a-related arteriopathy-strokes-leukoencephalopathy	Uncertain significance	rs2145819152	RCV005412296
Clear cell carcinoma of kidney	Uncertain significance	rs199735882	RCV005924297
CTSA-related disorder	Likely benign; Benign; Uncertain significance	rs149268665, rs745547045, rs560285370, rs746513841, rs755757216, rs190565374, rs763381306, rs72555383, rs372800409, rs41282776	RCV004756232 RCV003956421 RCV003951122 RCV003906461 RCV003893352 RCV004755885 RCV004755886 RCV003979956 RCV003413553 RCV003928268 RCV003915783
Familial cancer of breast	Uncertain significance	rs199735882	RCV005924296
Gastric cancer	Likely benign	rs562613353	RCV005935049
Lung cancer	Uncertain significance	rs375030709	RCV005926588

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32323791
Atrial Fibrillation	Inhibit	28306170
Carcinogenesis	Associate	37287981
Carcinoma Hepatocellular	Associate	32968147, 34272452, 37287981, 38114725
Charcot Marie Tooth Disease	Associate	28860329
Diabetes Mellitus Type 2	Associate	8094595
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23479608
Immunologic Deficiency Syndromes	Associate	9435242
Infections	Associate	15780141
Leukemia Myeloid Acute	Associate	12393713, 22411838, 35168327
Lupus Erythematosus Systemic	Associate	24463447
Lysosomal Storage Diseases	Associate	10333491
Lysosomal Storage Diseases	Stimulate	24463447
Melanoma	Associate	40226614
Mitral Valve Insufficiency	Inhibit	30581499
Mucopolysaccharidosis IV	Associate	16538002
Neoplasms	Associate	32323791, 34272452
Neuraminidase 1 deficiency	Associate	16538002
Neuraminidase deficiency with beta galactosidase deficiency	Associate	10333491, 16538002, 1756715, 24769197, 29642148, 9435242
Neuraminidase deficiency with beta galactosidase deficiency	Inhibit	1756715, 8985184
Nocturnal Myoclonus Syndrome	Associate	37563071
Paracoccidioidomycosis	Associate	17135452
Restless Legs Syndrome	Associate	37563071

CTSA (cathepsin A)