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	4668
Gene name	Alpha-N-acetylgalactosaminidase
Gene symbol	NAGA
Synonyms (NCBI Gene)	D22S674GALB
Chromosome	22
Chromosome location	22q13.2
Summary	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Ka

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs73167107	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs121434529	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121434530	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434533	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs140673721	C>T	Likely-pathogenic	Splice donor variant

153

Show/Hide all (153)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016604	hsa-miR-193b-3p	Microarray	20304954
MIRT043313	hsa-miR-331-3p	CLASH	23622248
MIRT1172991	hsa-miR-150	CLIP-seq
MIRT1172992	hsa-miR-2110	CLIP-seq
MIRT1172993	hsa-miR-3120-3p	CLIP-seq
MIRT1172994	hsa-miR-3150a-3p	CLIP-seq
MIRT1172995	hsa-miR-3153	CLIP-seq
MIRT1172996	hsa-miR-3155	CLIP-seq
MIRT1172997	hsa-miR-3155b	CLIP-seq
MIRT1172998	hsa-miR-3175	CLIP-seq
MIRT1172999	hsa-miR-3176	CLIP-seq
MIRT1173000	hsa-miR-3617	CLIP-seq
MIRT1173001	hsa-miR-3691-3p	CLIP-seq
MIRT1173002	hsa-miR-3913-3p	CLIP-seq
MIRT1173003	hsa-miR-3919	CLIP-seq
MIRT1173004	hsa-miR-3922-3p	CLIP-seq
MIRT1173005	hsa-miR-3925-5p	CLIP-seq
MIRT1173006	hsa-miR-3974	CLIP-seq
MIRT1173007	hsa-miR-3975	CLIP-seq
MIRT1173008	hsa-miR-4257	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT1173010	hsa-miR-4271	CLIP-seq
MIRT1173011	hsa-miR-4286	CLIP-seq
MIRT1173012	hsa-miR-4468	CLIP-seq
MIRT1173013	hsa-miR-4514	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT1173015	hsa-miR-4661-3p	CLIP-seq
MIRT1173016	hsa-miR-4667-5p	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT1173018	hsa-miR-4692	CLIP-seq
MIRT1173019	hsa-miR-4700-5p	CLIP-seq
MIRT1173020	hsa-miR-4705	CLIP-seq
MIRT1173021	hsa-miR-4709-3p	CLIP-seq
MIRT1173022	hsa-miR-4725-3p	CLIP-seq
MIRT1173023	hsa-miR-4742-5p	CLIP-seq
MIRT1173024	hsa-miR-4789-5p	CLIP-seq
MIRT1173025	hsa-miR-484	CLIP-seq
MIRT1173026	hsa-miR-548u	CLIP-seq
MIRT1173027	hsa-miR-589	CLIP-seq
MIRT1173028	hsa-miR-641	CLIP-seq
MIRT1173029	hsa-miR-939	CLIP-seq
MIRT2050122	hsa-miR-1343	CLIP-seq
MIRT2050123	hsa-miR-342-5p	CLIP-seq
MIRT2050124	hsa-miR-4651	CLIP-seq
MIRT2050125	hsa-miR-4664-5p	CLIP-seq
MIRT1173020	hsa-miR-4705	CLIP-seq
MIRT2050126	hsa-miR-608	CLIP-seq
MIRT2279018	hsa-miR-1225-5p	CLIP-seq
MIRT2279019	hsa-miR-1272	CLIP-seq
MIRT2279020	hsa-miR-1273d	CLIP-seq
MIRT2279021	hsa-miR-1322	CLIP-seq
MIRT2050122	hsa-miR-1343	CLIP-seq
MIRT2279022	hsa-miR-1976	CLIP-seq
MIRT2279023	hsa-miR-25	CLIP-seq
MIRT2279024	hsa-miR-3154	CLIP-seq
MIRT1172999	hsa-miR-3176	CLIP-seq
MIRT2279025	hsa-miR-3182	CLIP-seq
MIRT2279026	hsa-miR-3192	CLIP-seq
MIRT2279027	hsa-miR-32	CLIP-seq
MIRT2279028	hsa-miR-3622b-5p	CLIP-seq
MIRT2279029	hsa-miR-363	CLIP-seq
MIRT2279030	hsa-miR-3663-5p	CLIP-seq
MIRT2279031	hsa-miR-3664-3p	CLIP-seq
MIRT2279032	hsa-miR-367	CLIP-seq
MIRT2279033	hsa-miR-3670	CLIP-seq
MIRT2279034	hsa-miR-3690	CLIP-seq
MIRT2279035	hsa-miR-3907	CLIP-seq
MIRT1173004	hsa-miR-3922-3p	CLIP-seq
MIRT2279036	hsa-miR-4254	CLIP-seq
MIRT2279037	hsa-miR-4268	CLIP-seq
MIRT2279038	hsa-miR-4325	CLIP-seq
MIRT2279039	hsa-miR-4433	CLIP-seq
MIRT2279040	hsa-miR-4448	CLIP-seq
MIRT2279041	hsa-miR-4459	CLIP-seq
MIRT2279042	hsa-miR-4633-3p	CLIP-seq
MIRT2279043	hsa-miR-4695-5p	CLIP-seq
MIRT2279044	hsa-miR-4768-3p	CLIP-seq
MIRT2279045	hsa-miR-759	CLIP-seq
MIRT2279046	hsa-miR-92a	CLIP-seq
MIRT2279047	hsa-miR-92b	CLIP-seq
MIRT2454821	hsa-miR-205	CLIP-seq
MIRT2454822	hsa-miR-3136-5p	CLIP-seq
MIRT2454823	hsa-miR-4439	CLIP-seq
MIRT2454824	hsa-miR-943	CLIP-seq
MIRT2577212	hsa-miR-1909	CLIP-seq
MIRT2577213	hsa-miR-208a	CLIP-seq
MIRT2577214	hsa-miR-208b	CLIP-seq
MIRT2577215	hsa-miR-214	CLIP-seq
MIRT2577216	hsa-miR-3126-5p	CLIP-seq
MIRT2577217	hsa-miR-3138	CLIP-seq
MIRT2577218	hsa-miR-339-5p	CLIP-seq
MIRT1173000	hsa-miR-3617	CLIP-seq
MIRT2577219	hsa-miR-3619-5p	CLIP-seq
MIRT2577220	hsa-miR-3658	CLIP-seq
MIRT2279034	hsa-miR-3690	CLIP-seq
MIRT2279036	hsa-miR-4254	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT2577221	hsa-miR-4464	CLIP-seq
MIRT2577222	hsa-miR-4476	CLIP-seq
MIRT2577223	hsa-miR-4520a-3p	CLIP-seq
MIRT2577224	hsa-miR-4638-3p	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT2577225	hsa-miR-4660	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT2577226	hsa-miR-4688	CLIP-seq
MIRT2577227	hsa-miR-4748	CLIP-seq
MIRT2577228	hsa-miR-4752	CLIP-seq
MIRT2577229	hsa-miR-4800-5p	CLIP-seq
MIRT2577230	hsa-miR-486-3p	CLIP-seq
MIRT2577231	hsa-miR-499-5p	CLIP-seq
MIRT2577232	hsa-miR-590-3p	CLIP-seq
MIRT1173028	hsa-miR-641	CLIP-seq
MIRT2577233	hsa-miR-761	CLIP-seq
MIRT2685738	hsa-let-7a	CLIP-seq
MIRT2685739	hsa-let-7b	CLIP-seq
MIRT2685740	hsa-let-7c	CLIP-seq
MIRT2685741	hsa-let-7d	CLIP-seq
MIRT2685742	hsa-let-7e	CLIP-seq
MIRT2685743	hsa-let-7f	CLIP-seq
MIRT2685744	hsa-let-7g	CLIP-seq
MIRT2685745	hsa-let-7i	CLIP-seq
MIRT2685746	hsa-miR-1255a	CLIP-seq
MIRT2685747	hsa-miR-1255b	CLIP-seq
MIRT2577212	hsa-miR-1909	CLIP-seq
MIRT2685748	hsa-miR-202	CLIP-seq
MIRT2577215	hsa-miR-214	CLIP-seq
MIRT2577216	hsa-miR-3126-5p	CLIP-seq
MIRT2685749	hsa-miR-3152-5p	CLIP-seq
MIRT2685750	hsa-miR-3177-3p	CLIP-seq
MIRT2685751	hsa-miR-3184	CLIP-seq
MIRT2577218	hsa-miR-339-5p	CLIP-seq
MIRT2577219	hsa-miR-3619-5p	CLIP-seq
MIRT2685752	hsa-miR-3667-5p	CLIP-seq
MIRT2685753	hsa-miR-3672	CLIP-seq
MIRT2685754	hsa-miR-3714	CLIP-seq
MIRT2685755	hsa-miR-423-5p	CLIP-seq
MIRT1173009	hsa-miR-4269	CLIP-seq
MIRT2685756	hsa-miR-4458	CLIP-seq
MIRT2577222	hsa-miR-4476	CLIP-seq
MIRT2685757	hsa-miR-4500	CLIP-seq
MIRT1173014	hsa-miR-4645-5p	CLIP-seq
MIRT2685758	hsa-miR-4650-5p	CLIP-seq
MIRT2577225	hsa-miR-4660	CLIP-seq
MIRT1173017	hsa-miR-4673	CLIP-seq
MIRT2577226	hsa-miR-4688	CLIP-seq
MIRT2685759	hsa-miR-4774-3p	CLIP-seq
MIRT2577230	hsa-miR-486-3p	CLIP-seq
MIRT2685760	hsa-miR-501-3p	CLIP-seq
MIRT2685761	hsa-miR-502-3p	CLIP-seq
MIRT2685762	hsa-miR-548an	CLIP-seq
MIRT2685763	hsa-miR-661	CLIP-seq
MIRT2577233	hsa-miR-761	CLIP-seq
MIRT2685764	hsa-miR-98	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004557	Function	Alpha-galactosidase activity	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008456	Function	Alpha-N-acetylgalactosaminidase activity	IDA	19683538
GO:0008456	Function	Alpha-N-acetylgalactosaminidase activity	IEA
GO:0008456	Function	Alpha-N-acetylgalactosaminidase activity	TAS	2174888
GO:0009311	Process	Oligosaccharide metabolic process	IBA
GO:0016020	Component	Membrane	IEA
GO:0016052	Process	Carbohydrate catabolic process	IDA	19683538
GO:0016139	Process	Glycoside catabolic process	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019377	Process	Glycolipid catabolic process	IEA
GO:0019377	Process	Glycolipid catabolic process	IMP	9741689
GO:0042803	Function	Protein homodimerization activity	IPI	19683538
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
104170	7631	ENSG00000198951

P17050

Protein name

Alpha-N-acetylgalactosaminidase (EC 3.2.1.49) (Alpha-galactosidase B)

Protein function

Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.

PDB

3H53 , 3H54 , 3H55 , 3IGU , 4DO4 , 4DO5 , 4DO6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16499	Melibiase_2	25 → 308	Alpha galactosidase A	Family
PF17450	Melibiase_2_C	311 → 394	Alpha galactosidase A C-terminal beta sandwich domain	Domain

Sequence

MLLKTVLLLGHVAQVLMLDNGLLQTPPMGWLAWERFRCNINCDEDPKNCISEQLFMEMAD
RMAQDGWRDMGYTYLNIDDCWIGGRDASGRLMPDPKRFPHGIPFLADYVHSLGLKLGIYA
DMGNFTCMGYPGTTLDKVVQDAQTFAEWKVDMLKLDGCFSTPEERAQGYPKMAAALNATG
RPIAFSCSWPAYEGGLPPRVNYSLLADICNLWRNYDDIQDSWWSVLSILNWFVEHQDILQ
PVAGPGHWNDPDMLLIGNFGLSLEQSRAQMALWTVLAAPLLMSTDLRTISAQNMDILQNP
LMIKINQDPLGIQGRRIHKEKSLIEVYMRPLSNKASALVFFSCRTDMPYRYHSSLGQLNF
TGSVIYEAQDVYSGDIISGLRDETNFTVIINPSGVVMWYLYPIKNLEMSQQ

Sequence length

411

Interactions

View interactions

	KEGG
	Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways Lysosome

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alpha-N-acetylgalactosaminidase deficiency	Pathogenic; Likely pathogenic	rs2519056409, rs121434530, rs781137026	RCV005407263 RCV004767012 RCV005408755	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Alpha-N-acetylgalactosaminidase deficiency type 1	Likely pathogenic; Pathogenic	rs779423223, rs1348362674, rs2519053484, rs2519065527, rs2519064379, rs2519053431, rs1926691614, rs182798205, rs2519061179, rs1435289617, rs2519053637, rs1461803502, rs1381519494, rs140673721, rs2519056669 View all (13 more)	RCV000192506 RCV003517887 RCV003517907 RCV003518241 RCV003518292 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha-N-acetylgalactosaminidase deficiency type 2	Likely pathogenic; Pathogenic	rs779423223, rs775099024, rs121434530, rs121434531, rs140673721, rs768761898	RCV002478678 RCV005030337 RCV000019793 RCV000019794 RCV005034291 RCV001199313 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of esophagus	Likely pathogenic	rs768761898	RCV005866848	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
Alpha-N-acetylgalactosaminidase deficiency type 3	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NAGA-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHINDLER DISEASE, TYPE I	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (56)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG	2243144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	10359046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpha-N-acetylgalactosaminidase deficiency type 1	Alpha-N-Acetylgalactosaminidase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha-N-acetylgalactosaminidase deficiency type 2	Alpha-N-Acetylgalactosaminidase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Alpha-N-acetylgalactosaminidase deficiency type 3	Alpha-N-Acetylgalactosaminidase Deficiency	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	10359046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	17171432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	29748462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	14685826, 19853240, 8040340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	8040340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	BEFREE	1907616, 2243144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG	2243144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG	2243144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Late Infantile Neuroaxonal Dystrophy	Neuroaxonal Dystrophy	CTD_human_DG	2243144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29085597, 29332325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	14685826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroaxonal Dystrophies	Neuroaxonal Dystrophy	BEFREE	11313741, 14685826, 2122121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroaxonal Dystrophies	Neuroaxonal Dystrophy	CTD_human_DG	2243144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32348865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease Type I	Schindler disease	Pubtator	2243144, 8040340, 9741689	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease, Type I	Alpha-N-acetylgalactosaminidase deficiency	CLINVAR_DG	11251574, 1131374, 11313741, 2243144, 7707696, 8040340, 8071745, 8782044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schindler Disease, Type I	Alpha-N-acetylgalactosaminidase deficiency	BEFREE	11313741, 14685826, 15698859, 1907616, 2025241, 2243144, 31468281		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schindler Disease, Type I	Alpha-N-acetylgalactosaminidase deficiency	CTD_human_DG	19683538, 2243144		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schindler Disease, Type I	Alpha-N-acetylgalactosaminidase deficiency	UNIPROT_DG	2243144, 8782044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schindler Disease, Type I	Alpha-N-acetylgalactosaminidase deficiency	GENOMICS_ENGLAND_DG	27604308, 8071745, 8782044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schindler Disease, Type I	Alpha-N-acetylgalactosaminidase deficiency	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schindler Disease, Type II	Alpha-N-acetylgalactosaminidase deficiency	UNIPROT_DG	11251574, 8040340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease, Type II	Alpha-N-acetylgalactosaminidase deficiency	BEFREE	14685826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease, Type II	Alpha-N-acetylgalactosaminidase deficiency	GENOMICS_ENGLAND_DG	15136691, 27604308, 8071745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease, Type II	Alpha-N-acetylgalactosaminidase deficiency	CTD_human_DG	19683538, 2243144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease, Type II	Alpha-N-acetylgalactosaminidase deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease, Type II	Alpha-N-acetylgalactosaminidase deficiency	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease, Type III	Alpha-N-acetylgalactosaminidase deficiency	CTD_human_DG	19683538, 2243144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schindler Disease, Type III	Alpha-N-acetylgalactosaminidase deficiency	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NAGA (alpha-N-acetylgalactosaminidase)