GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

CTSA (cathepsin A)

Gene

5476

Cathepsin A

CTSA

GLB2, GSL, NGBE, PPCA, PPGB

20q13.12

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

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(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	TAS	2244901
GO:0004185	Function	Serine-type carboxypeptidase activity	IBA	21873635
GO:0004185	Function	Serine-type carboxypeptidase activity	IMP	12505983
GO:0005576	Component	Extracellular region	TAS
GO:0005764	Component	Lysosome	NAS	3136930
GO:0005783	Component	Endoplasmic reticulum	TAS	1387645
GO:0006508	Process	Proteolysis	IDA	12505983
GO:0006687	Process	Glycosphingolipid metabolic process	TAS
GO:0006886	Process	Intracellular protein transport	TAS	1387645
GO:0008047	Function	Enzyme activator activity	TAS	3107551
GO:0016020	Component	Membrane	HDA	19946888
GO:0031647	Process	Regulation of protein stability	IMP	12505983
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0050790	Process	Regulation of catalytic activity	IEA
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	IGI	12505983

MIM	HGNC	e!Ensembl
613111	9251	ENSG00000064601

Protein

UniProt ID

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

Associated diseases

Show/Hide Causal Diseases (6)

Causal
Disease name	Disease term	dbSNP ID	References
Galactosialidosis	GALACTOSIALIDOSIS	rs137854540, rs786200859, rs137854544, rs137854546, rs137854548, rs769812697, rs137854549, rs1337995343	8514852, 7759227, 8968752, 24779613, 26259553, 24769197, 1756715, 10944848, 24357685, 16538002, 27604308
Hemangioma	Hemangioma	rs119475040, rs121917766
Hydrops fetalis	Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986	26036949
Mental retardation	Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	8968752, 24769197, 10944848
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098

Show/Hide Unknown Diseases (6)

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic valve sclerosis	Aortic Valve Stenosis		10944848, 24769197, 8968752
Arteriopathy-strokes-leukoencephalopathy	Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
Congenital pectus excavatum	Congenital pectus excavatum		24769197, 10944848, 8968752
Conjunctival telangiectasis	Conjunctival telangiectasis
Dwarfism	Dwarfism
Pfaundler-hurler syndrome	Pfaundler-Hurler Syndrome

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412