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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of prenatal development or birth	Likely pathogenic; Pathogenic	rs200565348	RCV001814438	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (55 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GALACTOSIALIDOSIS, ADULT	Pathogenic	rs786200859	RCV000000407	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GALACTOSIALIDOSIS, EARLY INFANTILE	Pathogenic	rs137854546	RCV000000415	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GALACTOSIALIDOSIS, LATE INFANTILE	Likely pathogenic; Pathogenic	rs137854540, rs137854544, rs137854548, rs769812697, rs137854549, rs1337995343	RCV000000406 RCV000000413 RCV000000417 RCV000000418 RCV000000419 RCV000000420 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs757912971	RCV005934987	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-immune hydrops fetalis	Likely pathogenic	rs786205670	RCV000170578	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs778159802	RCV005912117	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN SMALL VESSEL DISEASE 6 WITH LEUKOENCEPHALOPATHY	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATHEPSIN A-RELATED ARTERIOPATHY, STROKES, LEUKOENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cathepsin a-related arteriopathy-strokes-leukoencephalopathy	Uncertain significance	ClinVar Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTSA-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSIALIDOSIS	—	ClinGen, Disgenet, HPO, Orphanet ClinGen, Disgenet, HPO, Orphanet ClinGen, Disgenet, HPO, Orphanet ClinGen, Disgenet, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (58)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31168300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	BEFREE	30278264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30278264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	CLINVAR_DG	10944848, 24769197, 8968752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	31850305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28306170	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
beta-Galactosidase Deficiency	Beta-Galactosidase Deficiency	BEFREE	9435242		★★★★★ ★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	31484286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37287981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	32968147, 34272452, 37287981, 38114725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy	Arteriopathy-Strokes-Leukoencephalopathy	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	BEFREE	31484286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	27664989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30013364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG	10944848, 24769197, 8968752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctival telangiectasis	Conjunctival Telangiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	28234994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	8094595	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	30725481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	31484286		★★★★★ ★☆☆☆☆ Found in Text Mining only
GALACTOSIALIDOSIS	Galactosialidosis	BEFREE	10333491, 10571006, 10744681, 10944848, 11212324, 11829139, 15084520, 16361247, 18937050, 21118106, 21214877, 22008912, 25075748, 27664989, 28555253 View all (12 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSIALIDOSIS	Galactosialidosis	UNIPROT_DG	10944848, 1756715, 8514852, 8968752		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSIALIDOSIS	Galactosialidosis	CLINVAR_DG	10944848, 16538002, 24769197, 24779613, 26259553, 8514852, 8968752		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSIALIDOSIS	Galactosialidosis	GENOMICS_ENGLAND_DG	1756715, 24357685, 27604308, 7759227, 8968752		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSIALIDOSIS	Galactosialidosis	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALACTOSIALIDOSIS	Galactosialidosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Galactosialidosis	Galactosialidosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gangliosidosis GM1	Gangliosidosis	BEFREE	10744681, 17664528, 21118106, 21214877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	31848276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	BEFREE	8585423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23479608	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Leukoencephalopathy with Spheroids	Hereditary Diffuse Leukoencephalopathy With Spheroids	BEFREE	31484286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG	26036949		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	29735266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24586188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31431059		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	30725481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	18937050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12393713, 22411838, 35168327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	24463447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29733372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	40226614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG	10944848, 24769197, 8968752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	BEFREE	10571006, 21118106, 9384611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	16538002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuraminidase 1 deficiency	Neuraminidase 1 Deficiency	BEFREE	16361247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	31850305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paracoccidioidomycosis	Paracoccidioidomycosis	Pubtator	17135452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	37563071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29452206		★★★★★ ★☆☆☆☆ Found in Text Mining only
Type I Mucolipidosis	Mucolipidosis	BEFREE	10571006, 21118106, 9384611		★★★★★ ★☆☆☆☆ Found in Text Mining only

CTSA (cathepsin A)