SGSH (N-sulfoglucosamine sulfohydrolase)

Gene

• Entrez ID: 6448
• Gene name: N-sulfoglucosamine sulfohydrolase
• Gene symbol: SGSH
• Synonyms (NCBI Gene): HSS, MPS3A, SFMD
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrom

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34520362	G>A,C	Pathogenic, benign, uncertain-significance	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs104894635	C>A,T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs104894636	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894637	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894638	C>T	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894639	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, intron variant, missense variant, 3 prime UTR variant
rs104894640	C>A,G,T	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, intron variant, missense variant, 3 prime UTR variant
rs104894641	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant, intron variant, missense variant, 3 prime UTR variant
rs104894642	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894643	C>G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs138504221	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs141153056	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant, intron variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, synonymous variant, non coding transcript variant
rs143947056	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs144143780	T>C	Pathogenic	3 prime UTR variant, intron variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs144862290	C>G,T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, intron variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs374621913	G>A,C	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs398123244	->CGCTGG	Likely-pathogenic, uncertain-significance	Intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant, inframe insertion
rs529855742	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs745884647	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs746776254	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs752914124	GGAGGTCCTTG>-	Pathogenic, pathogenic-likely-pathogenic	3 prime UTR variant, coding sequence variant, downstream transcript variant, stop gained, intron variant, inframe indel, non coding transcript variant, genic downstream transcript variant
rs753472891	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs753666460	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs758756630	T>C	Likely-pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, intron variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs761607612	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs764057581	G>T	Likely-pathogenic	3 prime UTR variant, coding sequence variant, intron variant, missense variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant
rs766938111	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	3 prime UTR variant, non coding transcript variant, missense variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs770947426	G>-	Pathogenic	Frameshift variant, 3 prime UTR variant, non coding transcript variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs772311757	G>A	Pathogenic	3 prime UTR variant, non coding transcript variant, missense variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs774010006	C>T	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs777267343	G>A	Pathogenic-likely-pathogenic	3 prime UTR variant, non coding transcript variant, missense variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs777956287	C>-	Pathogenic	Frameshift variant, 3 prime UTR variant, non coding transcript variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs778336949	C>T	Pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs778700037	->G	Pathogenic	Frameshift variant, 3 prime UTR variant, non coding transcript variant, intron variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant
rs779703983	T>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs781572815	C>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, non coding transcript variant, downstream transcript variant
rs886041370	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1046551417	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1057517927	T>C	Pathogenic	Splice acceptor variant
rs1057521146	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs1057521801	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1064794815	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant
rs1064795109	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant, downstream transcript variant, non coding transcript variant
rs1131691434	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs1323958195	G>A	Likely-pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant, intron variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant
rs1369704445	T>C	Pathogenic	Splice acceptor variant
rs1424242431	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, intron variant, genic downstream transcript variant, 3 prime UTR variant, downstream transcript variant, coding sequence variant
rs1555620092	A>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs1555620141	C>T	Likely-pathogenic	Intron variant, coding sequence variant, 3 prime UTR variant, stop gained, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs1555620214	T>C	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, 3 prime UTR variant, missense variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant
rs1555620827	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555621425	C>A	Likely-pathogenic	Splice acceptor variant
rs1555621659	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555621662	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555621971	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555621984	C>T	Likely-pathogenic	Splice acceptor variant
rs1555622888	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1567914459	G>A	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, intron variant, downstream transcript variant, stop gained
rs1598736884	G>A	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, intron variant, missense variant, downstream transcript variant
rs1598738369	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, intron variant, downstream transcript variant
rs1598738720	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, intron variant, downstream transcript variant
rs1598749661	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598749984	->A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598758001	A>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049918	hsa-miR-30a-3p	CLASH	23622248
MIRT044118	hsa-miR-30e-3p	CLASH	23622248
MIRT036568	hsa-miR-941	CLASH	23622248
MIRT1343837	hsa-miR-1913	CLIP-seq
MIRT1343838	hsa-miR-197	CLIP-seq
MIRT1343839	hsa-miR-198	CLIP-seq
MIRT1343840	hsa-miR-2110	CLIP-seq
MIRT1343841	hsa-miR-324-3p	CLIP-seq
MIRT1343842	hsa-miR-3613-3p	CLIP-seq
MIRT1343843	hsa-miR-3908	CLIP-seq
MIRT1343844	hsa-miR-4271	CLIP-seq
MIRT1343845	hsa-miR-4645-5p	CLIP-seq
MIRT1343846	hsa-miR-4667-5p	CLIP-seq
MIRT1343847	hsa-miR-4673	CLIP-seq
MIRT1343848	hsa-miR-4700-5p	CLIP-seq
MIRT1343849	hsa-miR-4725-3p	CLIP-seq
MIRT1343850	hsa-miR-4727-5p	CLIP-seq
MIRT1343851	hsa-miR-591	CLIP-seq
MIRT1343852	hsa-miR-598	CLIP-seq
MIRT1343853	hsa-miR-767-3p	CLIP-seq
MIRT2101621	hsa-miR-4731-5p	CLIP-seq
MIRT2394330	hsa-miR-1285	CLIP-seq
MIRT2394331	hsa-miR-3184	CLIP-seq
MIRT2394332	hsa-miR-3187-5p	CLIP-seq
MIRT2394333	hsa-miR-423-5p	CLIP-seq
MIRT2394334	hsa-miR-4492	CLIP-seq
MIRT2394335	hsa-miR-4498	CLIP-seq
MIRT2394336	hsa-miR-4505	CLIP-seq
MIRT2394337	hsa-miR-612	CLIP-seq
MIRT2394338	hsa-miR-762	CLIP-seq
MIRT2621692	hsa-miR-1193	CLIP-seq
MIRT2621693	hsa-miR-1252	CLIP-seq
MIRT2621694	hsa-miR-1254	CLIP-seq
MIRT1343840	hsa-miR-2110	CLIP-seq
MIRT2621695	hsa-miR-3116	CLIP-seq
MIRT2621696	hsa-miR-3185	CLIP-seq
MIRT2621697	hsa-miR-3189-3p	CLIP-seq
MIRT2621698	hsa-miR-3675-5p	CLIP-seq
MIRT1343844	hsa-miR-4271	CLIP-seq
MIRT2621699	hsa-miR-4476	CLIP-seq
MIRT2621700	hsa-miR-4533	CLIP-seq
MIRT2621701	hsa-miR-4667-3p	CLIP-seq
MIRT1343846	hsa-miR-4667-5p	CLIP-seq
MIRT1343848	hsa-miR-4700-5p	CLIP-seq
MIRT1343849	hsa-miR-4725-3p	CLIP-seq
MIRT2621702	hsa-miR-486-3p	CLIP-seq
MIRT2621703	hsa-miR-548b-3p	CLIP-seq
MIRT1343851	hsa-miR-591	CLIP-seq
MIRT2621704	hsa-miR-661	CLIP-seq
MIRT2621692	hsa-miR-1193	CLIP-seq
MIRT2690610	hsa-miR-122	CLIP-seq
MIRT2621693	hsa-miR-1252	CLIP-seq
MIRT2621697	hsa-miR-3189-3p	CLIP-seq
MIRT2621699	hsa-miR-4476	CLIP-seq
MIRT2621700	hsa-miR-4533	CLIP-seq
MIRT2621701	hsa-miR-4667-3p	CLIP-seq
MIRT2621703	hsa-miR-548b-3p	CLIP-seq
MIRT2690611	hsa-miR-574-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15962010, 33961781
GO:0005764	Component	Lysosome	IDA	15146460
GO:0005764	Component	Lysosome	IEA
GO:0006027	Process	Glycosaminoglycan catabolic process	IBA
GO:0006027	Process	Glycosaminoglycan catabolic process	IDA	7493035, 15146460
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008484	Function	Sulfuric ester hydrolase activity	IEA
GO:0016250	Function	N-sulfoglucosamine sulfohydrolase activity	IBA
GO:0016250	Function	N-sulfoglucosamine sulfohydrolase activity	IDA	7493035, 15146460
GO:0016250	Function	N-sulfoglucosamine sulfohydrolase activity	IEA
GO:0016250	Function	N-sulfoglucosamine sulfohydrolase activity	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IBA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IMP	15146460
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	TAS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 605270
• HGNC: 10818
• e!Ensembl: ENSG00000181523

Protein

• UniProt ID: P51688
• Protein name: N-sulphoglucosamine sulphohydrolase (EC 3.10.1.1) (Sulfoglucosamine sulfamidase) (Sulphamidase)
• Protein function: Catalyzes a step in lysosomal heparan sulfate degradation.
• PDB: 4MHX, 4MIV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00884	Sulfatase	23 → 328	Sulfatase	Family
  PF16347	DUF4976	400 → 477	Domain of unknown function (DUF4976)	Family

• Sequence:

  MSCPVPACCALLLVLGLCRARPRNALLLLADDGGFESGAYNNSAIATPHLDALARRSLLF
  RNAFTSVSSCSPSRASLLTGLPQHQNGMYGLHQDVHHFNSFDKVRSLPLLLSQAGVRTGI
  IGKKHVGPETVYPFDFAYTEENGSVLQVGRNITRIKLLVRKFLQTQDDRPFFLYVAFHDP
  HRCGHSQPQYGTFCEKFGNGESGMGRIPDWTPQAYDPLDVLVPYFVPNTPAARADLAAQY
  TTVGRMDQGVGLVLQELRDAGVLNDTLVIFTSDNGIPFPSGRTNLYWPGTAEPLLVSSPE
  HPKRWGQVSEAYVSLLDLTPTILDWFSIPYPSYAIFGSKTIHLTGRSLLPALEAEPLWAT
  VFGSQSHHEVTMSYPMRSVQHRHFRLVHNLNFKMPFPIDQDFYVSPTFQDLLNRTTAGQP
  TGWYKDLRHYYYRARWELYDRSRDPHETQNLATDPRFAQLLEMLRDQLAKWQWETHDPWV
  CAPDGVLEEKLSPQCQPLHNEL

• Sequence length: 502

Pathways

KEGG:

Glycosaminoglycan degradation
Metabolic pathways
Lysosome

Reactome:

HS-GAG degradation
MPS IIIA - Sanfilippo syndrome A

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal circulating carbohydrate concentration	Likely pathogenic; Pathogenic	rs104894636	RCV000626628	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs761607612	RCV001814197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Pathogenic	rs752914124, rs138504221	RCV005625510 RCV005624704	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs144143780	RCV005621929	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis	Likely pathogenic; Pathogenic	rs104894636, rs144143780, rs138504221, rs770947426	RCV001030813 RCV001030814 RCV001030818 RCV001030816	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis, MPS-III-A	Likely pathogenic; Pathogenic	rs774010006, rs2144830115, rs2144689256, rs1484648912, rs760281672, rs2144742222, rs373031930, rs372911015, rs2041818115, rs1352066127, rs746037899, rs1455698449, rs201413321, rs2144754863, rs1459579613, rs1567915763, rs2144748721, rs2041772144, rs1466245913, rs1567914835, rs763063355, rs1322090067, rs2144742329, rs150482611, rs2041597805, rs2144749282, rs758793075, rs2144749648, rs1488660868, rs1211675075, rs775136193, rs985515930, rs2510890643, rs2510910018, rs2510894157, rs2510930388, rs2510897873, rs2510890974, rs2510897829, rs2510854985, rs745319635, rs2510909137, rs778700037, rs2510894208, rs2510893618, rs104894636, rs104894641, rs104894638, rs104894639, rs104894640, rs104894643, rs2510890611, rs772311757, rs1598742418, rs2510886408, rs2510857830, rs2510890824, rs2510925752, rs761607612, rs2510857678, rs2510874108, rs2510874136, rs2510889949, rs2510894183, rs34520362, rs143947056, rs144143780, rs886041370, rs777956287, rs2473161338, rs752914124, rs778336949, rs146522699, rs151227799, rs766840480, rs2510858347, rs2510860947, rs2510894297, rs2041622931, rs2510930697, rs2510860466, rs761216892, rs2510858088, rs2510860847, rs2510860730, rs766938111, rs766980170, rs2510873581, rs2510857524, rs2510857875, rs1567924625, rs2510898674, rs562933313, rs2510855616, rs2510855573, rs2510855421, rs2510893525, rs753472891, rs2510859617, rs2510897985, rs2510909196, rs2510856684, rs767834681, rs886053559, rs755951235, rs2510856564, rs2510873882, rs1293427858, rs2510894278, rs2510856163, rs2510893463, rs2510893832, rs1227431766, rs2510909052, rs2144692159, rs2510855800, rs374621913, rs779703983, rs753666460, rs1057517927, rs1057521801, rs138504221, rs1064795109, rs1555620827, rs770947426, rs746776254, rs1555621662, rs529855742, rs781572815, rs1424242431, rs1555620141, rs1555621984, rs1323958195, rs1555621659, rs777267343, rs764057581, rs1046551417, rs1555621425, rs1555621971, rs1555624080, rs1555620214, rs1555622888, rs1555624111, rs1250300189, rs1567914459, rs1369704445, rs1598738369, rs1598738720, rs1479831530, rs1598758001, rs1598749661, rs1598749984, rs2041615714, rs2041840084, rs748525651, rs1479456289	RCV001377322 RCV001379722 RCV001389672 RCV001386333 RCV001381370 RCV001390185 RCV001385410 RCV001384263 RCV001389566 RCV001542696 RCV001780433 RCV001783741 RCV002008114 RCV001922083 RCV001986976 RCV002004969 RCV001892606 RCV001999859 RCV001906285 RCV001931104 RCV001942694 RCV002015642 RCV001942143 RCV001942251 RCV001942025 RCV001951052 RCV002039517 RCV001903781 RCV001951435 RCV001863677 RCV001957693 RCV003097734 RCV002306810 RCV002309822 RCV002307857 RCV002307929 RCV002308423 RCV002308424 RCV002308466 RCV002472121 RCV003064496 RCV003064497 RCV000180105 RCV002630890 RCV002681915 RCV000005415 RCV000005416 RCV000005420 RCV000005421 RCV000005424 RCV000005425 RCV002711990 RCV002766022 RCV002838762 RCV002835148 RCV002858287 RCV002880872 RCV002863533 RCV002863612 RCV002932528 RCV003028363 RCV003042027 RCV003045902 RCV003040194 RCV000675098 RCV003156720 RCV000409289 RCV000666337 RCV000674194 RCV001174888 RCV003230893 RCV000295921 RCV003313761 RCV003472706 RCV003472707 RCV003472709 RCV003472710 RCV003472711 RCV003472712 RCV003472714 RCV003472715 RCV003472716 RCV003472717 RCV003472718 RCV003472719 RCV003472720 RCV003472722 RCV003472723 RCV003472724 RCV003505831 RCV003505971 RCV003506591 RCV003506592 RCV003506593 RCV003504853 RCV003504806 RCV003504921 RCV003504910 RCV003614266 RCV003614391 RCV003613636 RCV003613640 RCV003614001 RCV003613928 RCV003614659 RCV003615074 RCV003615217 RCV003615505 RCV003857938 RCV003865792 RCV003869454 RCV003989220 RCV004573583 RCV004573584 RCV004573585 RCV004573586 RCV004573587 RCV004573588 RCV004573589 RCV000489539 RCV000409562 RCV001035206 RCV000672002 RCV002524639 RCV000489872 RCV000023412 RCV003155207 RCV000499531 RCV000664735 RCV000606285 RCV000612947 RCV000625930 RCV000626218 RCV000626217 RCV000667882 RCV000664660 RCV000664671 RCV000669340 RCV000671608 RCV000673158 RCV000665964 RCV000665218 RCV000668913 RCV000668365 RCV000670575 RCV000667394 RCV000665263 RCV000674099 RCV000664949 RCV000665315 RCV000666664 RCV000674007 RCV000667488 RCV001246288 RCV000758005 RCV000785043 RCV000790557 RCV000790556 RCV000790554 RCV000790553 RCV000810296 RCV000800338 RCV000856818 RCV001174996 RCV001193148 RCV001205333 RCV001262986	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodegeneration	Pathogenic	rs138504221	RCV001837443	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sanfilippo syndrome	Pathogenic	rs778700037, rs777956287, rs374621913, rs138504221	RCV000586132 RCV000266557 RCV000588098 RCV000326423	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SGSH-related disorder	Likely pathogenic; Pathogenic	rs746037899, rs104894638, rs104894640, rs753472891, rs778336949	RCV004756280 RCV004755712 RCV003894791 RCV003420182 RCV004756002	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOINFLAMMATORY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL REGRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS III	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE 3A	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE IIIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, TYPE IIIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SANFILIPPO SYNDROME TYPE A	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	30031384		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	29261731		★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
beta-Mannosidosis	Beta-Mannosidosis	BEFREE	1861455		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28701670		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	30760748		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	26975339		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	31385193	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28258830, 30031384, 30081183, 30234618		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	30026816		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	39201540	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12687673, 17938166, 21061399, 21671382, 23385295, 25851924, 27896117, 28921412		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	30593151	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	31498177		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease IIIA	Glycogen storage disease	Pubtator	30269021	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	31385193	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31385193	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	30280217		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	30618870		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31526056		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12687673, 17938166, 21061399, 21671382, 23385295, 25851924, 27896117, 28921412		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	BEFREE	27590925		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MPS III D	Mucopolysaccharidosis	BEFREE	27100513		★☆☆☆☆ Found in Text Mining only
MPS III D	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	CLINVAR_DG	11182930, 11343308, 11668611, 15146460, 15542396, 18407553, 21061399, 21204211, 21671382, 22976768, 24875751, 9158154, 9285796, 9401012, 9554748, 9700599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	BEFREE	11509012, 17725987, 25807448, 26331342, 27827379, 27832416, 28601604, 30907009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	LHGDN	11793481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	24816101, 30593151, 31385193, 35835061, 39201540, 40020439	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	CLINVAR_DG	10601282, 10727844, 11182930, 11343308, 11668611, 11903343, 12000360, 12702166, 15146460, 15542396, 15637719, 17128482, 18407553, 19099774, 19383612, 21061399, 21204211, 21228398, 21393040, 21455105, 21671382, 21910976, 21963080, 22002444, 22976768, 22976788, 23084433, 24314109, 24347096, 24816101, 24875751, 25113300, 25557439, 25807448, 26331342, 26648750, 26787381, 27590925, 28844463, 29023963, 7493035, 9158154, 9285796, 9401012, 9554748, 9700599, 9744479		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	UNIPROT_DG	11182930, 11793481, 12000360, 12702166, 15146460, 15637719, 15902564, 16311287, 17128482, 18407553, 21671382, 28101780, 9158154, 9285796, 9401012, 9554748, 9744479		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	11509012, 11829484, 12702166, 15146460, 15902564, 16352454, 17725987, 17913701, 18407553, 18443601, 18518922, 1861455, 20370351, 21550404, 21671382, 23748415, 25418946, 25592334, 25807448, 26626972, 26975339, 27100513, 27585464, 27590925, 27832416, 28601604, 28921412, 29198891, 29251941, 29408731, 30593151, 30907009, 31044143, 31202732, 31490106, 31528541, 31788497, 7493035, 9158154, 9401012, 9405287, 9700599		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	ORPHANET_DG	15146460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	27604308, 30593151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	BEFREE	17913701		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	21816641		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	24816101	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21816641, 26626972, 29251941, 30907009, 31490106, 9158154		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30760748	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	26331342		★☆☆☆☆ Found in Text Mining only
Sanfilippo syndrome type A	Sanfilippo Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	31314143		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	31314143		★☆☆☆☆ Found in Text Mining only