NAGLU (N-acetyl-alpha-glucosaminidase)

Gene

• Entrez ID: 4669
• Gene name: N-acetyl-alpha-glucosaminidase
• Gene symbol: NAGLU
• Synonyms (NCBI Gene): CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfili

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894590	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894591	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894592	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, intron variant, coding sequence variant
rs104894594	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104894595	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs104894596	C>A,T	Pathogenic-likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs104894597	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894598	G>A,C,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104894601	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs112751577	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs118204024	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs118204025	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs138387856	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs138695961	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs147036053	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs148881970	A>G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs376090795	G>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs398123281	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs483352897	CGGCCAGGAG>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs527236037	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs527236038	G>A,C,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs555145190	G>A,C,T	Pathogenic-likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs727504028	G>T	Pathogenic, likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs746006696	C>T	Pathogenic	Coding sequence variant, missense variant
rs751203469	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs752131463	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs752527478	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs753520553	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs756865833	CTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs758785463	C>T	Likely-pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs760370189	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs762031686	C>G,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs763299645	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs764134891	G>A	Likely-pathogenic	Splice acceptor variant, 5 prime UTR variant
rs768814260	A>G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs768918822	A>C,G	Uncertain-significance, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs778021009	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs796052122	T>C	Pathogenic	Missense variant, coding sequence variant
rs797044751	->A	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039894	T>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs886039895	->G	Pathogenic	Coding sequence variant, frameshift variant
rs886042073	G>A,C,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs886043792	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs904672363	G>A	Pathogenic	Coding sequence variant, stop gained
rs992677795	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1013345784	T>C,G	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, initiator codon variant
rs1052471595	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1180591588	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1195831432	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1244655820	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1250949842	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1325661354	A>G,T	Pathogenic	Initiator codon variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs1358994052	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs1396150639	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1430122594	G>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1431589133	GCGCGTGCGGGTGCGCGGC>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs1445294968	G>T	Pathogenic	Stop gained, 5 prime UTR variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1480640960	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1485628563	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555621397	G>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621402	GCGG>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621432	T>-	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621442	->GCGCG	Pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621448	->C	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1555621454	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs1555622000	CAGTTGGG>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555622002	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555622019	C>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555622242	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622250	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555622351	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622354	GCCCGGCGGT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555622441	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622443	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622488	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622505	TGAGGCCGAGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555622533	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant
rs1555622545	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555622559	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567890328	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1567891258	GT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1567893399	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1599253805	T>G	Likely-pathogenic	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1599253815	G>A	Pathogenic	Missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1599258487	G>T	Pathogenic	Missense variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1173064	hsa-miR-1262	CLIP-seq
MIRT1173065	hsa-miR-1293	CLIP-seq
MIRT1173066	hsa-miR-3165	CLIP-seq
MIRT1173067	hsa-miR-323-5p	CLIP-seq
MIRT1173068	hsa-miR-3616-3p	CLIP-seq
MIRT1173069	hsa-miR-4436b-3p	CLIP-seq
MIRT1173070	hsa-miR-4483	CLIP-seq
MIRT1173071	hsa-miR-4701-3p	CLIP-seq
MIRT1173072	hsa-miR-4736	CLIP-seq
MIRT1173073	hsa-miR-876-3p	CLIP-seq
MIRT2050127	hsa-miR-101	CLIP-seq
MIRT2279048	hsa-miR-1285	CLIP-seq
MIRT2279049	hsa-miR-1291	CLIP-seq
MIRT2279050	hsa-miR-296-5p	CLIP-seq
MIRT2279051	hsa-miR-3187-5p	CLIP-seq
MIRT2279052	hsa-miR-378g	CLIP-seq
MIRT2279053	hsa-miR-4308	CLIP-seq
MIRT2279054	hsa-miR-4486	CLIP-seq
MIRT2279055	hsa-miR-612	CLIP-seq
MIRT2050127	hsa-miR-101	CLIP-seq
MIRT1173064	hsa-miR-1262	CLIP-seq
MIRT1173065	hsa-miR-1293	CLIP-seq
MIRT2577242	hsa-miR-188-3p	CLIP-seq
MIRT1173070	hsa-miR-4483	CLIP-seq
MIRT1173071	hsa-miR-4701-3p	CLIP-seq
MIRT2050127	hsa-miR-101	CLIP-seq
MIRT1173064	hsa-miR-1262	CLIP-seq
MIRT1173065	hsa-miR-1293	CLIP-seq
MIRT2577242	hsa-miR-188-3p	CLIP-seq
MIRT1173070	hsa-miR-4483	CLIP-seq
MIRT1173071	hsa-miR-4701-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001573	Process	Ganglioside metabolic process	IEA
GO:0001774	Process	Microglial cell activation	IEA
GO:0001889	Process	Liver development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0003158	Process	Endothelium development	IEA
GO:0003170	Process	Heart valve development	IEA
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003220	Process	Left ventricular cardiac muscle tissue morphogenesis	IEA
GO:0004561	Function	Alpha-N-acetylglucosaminidase activity	IEA
GO:0004561	Function	Alpha-N-acetylglucosaminidase activity	TAS	8650226
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	TAS	8650226
GO:0005773	Component	Vacuole	IEA
GO:0006029	Process	Proteoglycan metabolic process	IEA
GO:0006801	Process	Superoxide metabolic process	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007028	Process	Cytoplasm organization	IEA
GO:0007030	Process	Golgi organization	IEA
GO:0007033	Process	Vacuole organization	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007399	Process	Nervous system development	TAS	8650226
GO:0007507	Process	Heart development	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0021675	Process	Nerve development	IEA
GO:0021680	Process	Cerebellar Purkinje cell layer development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	TAS
GO:0030201	Process	Heparan sulfate proteoglycan metabolic process	IEA
GO:0030202	Process	Heparin proteoglycan metabolic process	IEA
GO:0030203	Process	Glycosaminoglycan metabolic process	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032963	Process	Collagen metabolic process	IEA
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IEA
GO:0034285	Process	Response to disaccharide	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035633	Process	Maintenance of blood-brain barrier	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0035904	Process	Aorta development	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042982	Process	Amyloid precursor protein metabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0045475	Process	Locomotor rhythm	IEA
GO:0046548	Process	Retinal rod cell development	IEA
GO:0048143	Process	Astrocyte activation	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048731	Process	System development	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060119	Process	Inner ear receptor cell development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0097696	Process	Cell surface receptor signaling pathway via STAT	IEA
GO:0099022	Process	Vesicle tethering	IEA
GO:0150076	Process	Neuroinflammatory response	IEA
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA
GO:1904389	Process	Rod bipolar cell differentiation	IEA
GO:1904390	Process	Cone retinal bipolar cell differentiation	IEA

Other IDs

• MIM: 609701
• HGNC: 7632
• e!Ensembl: ENSG00000108784

Protein

• UniProt ID: P54802
• Protein name: Alpha-N-acetylglucosaminidase (EC 3.2.1.50) (N-acetyl-alpha-glucosaminidase) (NAG) [Cleaved into: Alpha-N-acetylglucosaminidase 82 kDa form; Alpha-N-acetylglucosaminidase 77 kDa form]
• Protein function: Involved in the degradation of heparan sulfate.
• PDB: 4XWH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12971	NAGLU_N	30 → 116	Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain	Domain
  PF05089	NAGLU	130 → 465	Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain	Domain
  PF12972	NAGLU_C	474 → 733	Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney.
• Sequence:

  MEAVAVAAAVGVLLLAGAGGAAGDEAREAAAVRALVARLLGPGPAADFSVSVERALAAKP
  GLDTYSLGGGGAARVRVRGSTGVAAAAGLHRYLRDFCGCHVAWSGSQLRLPRPLPAVPGE
  LTEATPNRYRYYQNVCTQSYSFVWWDWARWEREIDWMALNGINLALAWSGQEAIWQRVYL
  ALGLTQAEINEFFTGPAFLAWGRMGNLHTWDGPLPPSWHIKQLYLQHRVLDQMRSFGMTP
  VLPAFAGHVPEAVTRVFPQVNVTKMGSWGHFNCSYSCSFLLAPEDPIFPIIGSLFLRELI
  KEFGTDHIYGADTFNEMQPPSSEPSYLAAATTAVYEAMTAVDTEAVWLLQGWLFQHQPQF
  WGPAQIRAVLGAVPRGRLLVLDLFAESQPVYTRTASFQGQPFIWCMLHNFGGNHGLFGAL
  EAVNGGPEAARLFPNSTMVGTGMAPEGISQNEVVYSLMAELGWRKDPVPDLAAWVTSFAA
  RRYGVSHPDAGAAWRLLLRSVYNCSGEACRGHNRSPLVRRPSLQMNTSIWYNRSDVFEAW
  RLLLTSAPSLATSPAFRYDLLDLTRQAVQELVSLYYEEARSAYLSKELASLLRAGGVLAY
  ELLPALDEVLASDSRFLLGSWLEQARAAAVSEAEADFYEQNSRYQLTLWGPEGNILDYAN
  KQLAGLVANYYTPRWRLFLEALVDSVAQGIPFQQHQFDKNVFQLEQAFVLSKQRYPSQPR
  GDTVDLAKKIFLKYYPRWVAGSW

• Sequence length: 743

Pathways

KEGG:

Glycosaminoglycan degradation
Metabolic pathways
Lysosome

Reactome:

HS-GAG degradation
MPS IIIB - Sanfilippo syndrome B

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
Abnormality of metabolism/homeostasis	Likely pathogenic	rs2143113297	RCV001814558	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Likely pathogenic	rs375103824	RCV006255226	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs104894598	RCV004798854	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease axonal type 2V	Likely pathogenic; Pathogenic	rs104894601, rs1567890245, rs1352416909, rs2143086378, rs766000735, rs2143075344, rs2143075470, rs2143075902, rs2143076561, rs748042028, rs1261241939, rs2143086665, rs879111128, rs749338526, rs2092930339, rs1460796923, rs2143111795, rs2143108228, rs2143076795, rs2143099180, rs2143113566, rs2143110493, rs2092928624, rs771151036, rs2143077277, rs760370189, rs2143113857, rs1279412522, rs2092909557, rs2143086910, rs2143088088, rs1379877908, rs2143082104, rs2143109467, rs1201516783, rs2092912932, rs1209988199, rs2143116788, rs2092906864, rs2143099555, rs104894600, rs1452185692, rs2143082538, rs2143086826, rs2092906340, rs2143074939, rs1305299665, rs1453761645, rs1253870232, rs527236038, rs527236037, rs104894590, rs104894591, rs104894592, rs483352897, rs104894594, rs104894595, rs104894597, rs104894598, rs118204024, rs118204025, rs104894596, rs727504028, rs2510653397, rs1460260015, rs104894599, rs1276484671, rs2510658575, rs1165365401, rs2510649581, rs753670246, rs2510656611, rs796052122, rs796052123, rs2510656745, rs2510653907, rs2510653834, rs1488695477, rs2510650554, rs1052471595, rs2510650296, rs2510653303, rs2510656576, rs1884683982, rs1262407073, rs2510653298, rs2092930484, rs2510652165, rs2510649972, rs1430122594, rs2510660141, rs2510652171, rs2510660651, rs886039894, rs886042073, rs2510660046, rs886043792, rs775364669, rs375103824, rs2510658779, rs2092909477, rs2510652210, rs1383530983, rs780376108, rs767510451, rs1013345784, rs2510659172, rs2510659337, rs2510660968, rs2510660121, rs2510658578, rs2510659075, rs753520553, rs2510650286, rs750741772, rs1213961819, rs2510658609, rs2510653230, rs2510652219, rs2510650548, rs1335776131, rs2092914076, rs2510653897, rs376090795, rs1325661354, rs1244655820, rs752131463, rs148881970, rs555145190, rs1555621448, rs1555621442, rs1431589133, rs1555621454, rs770684838, rs1555622019, rs1555622488, rs1215582852, rs751203469, rs1445294968, rs1555622002, rs1358994052, rs768918822, rs1180591588, rs1555622242, rs904672363, rs768814260, rs200909691, rs1195831432, rs1555621397, rs758785463, rs764134891, rs747155746, rs749140168, rs1485628563, rs114625063, rs138387856, rs1250949842, rs778021009, rs992677795, rs762031686, rs763299645, rs1364203992, rs1230894568, rs1567890328, rs147036053, rs1599253805, rs1353058781, rs2092925958, rs2092926507, rs1245939928, rs1183634153, rs2092905845, rs2092920511, rs2092906798, rs398123281, rs1246249632, rs746876753	RCV003770635 RCV001377344 RCV001378696 RCV001379037 RCV001378698 RCV001380076 RCV001390490 RCV001383917 RCV001380662 RCV001383909 RCV001382928 RCV001390366 RCV001389201 RCV001380522 RCV001885164 RCV005225522 RCV001913835 RCV001904871 RCV001939409 RCV001970854 RCV001888331 RCV001934592 RCV002022742 RCV002005475 RCV001993306 RCV002000089 RCV002007460 RCV001939506 RCV002025052 RCV001876710 RCV001895807 RCV001893693 RCV001967204 RCV001972426 RCV001953475 RCV001953487 RCV002043424 RCV002030058 RCV001951137 RCV001951172 RCV002015294 RCV001885892 RCV002001268 RCV001944084 RCV001951307 RCV001963100 RCV001975040 RCV002018528 RCV001906752 RCV001914104 RCV001922252 RCV001378699 RCV001036826 RCV000817080 RCV000802847 RCV001041784 RCV001047802 RCV001214750 RCV001043674 RCV001223228 RCV001851558 RCV002512655 RCV001851559 RCV001214384 RCV001203422 RCV001850099 RCV003775027 RCV003064442 RCV003050471 RCV003064443 RCV003041306 RCV003064444 RCV003050473 RCV003088440 RCV003100650 RCV002636551 RCV000186582 RCV001382879 RCV002760999 RCV002791925 RCV002797040 RCV002839411 RCV002833649 RCV002829468 RCV002862745 RCV002857746 RCV002847846 RCV002909476 RCV002923656 RCV003005516 RCV003022820 RCV003029393 RCV003055225 RCV003049183 RCV003054861 RCV003046951 RCV003043925 RCV005021815 RCV003765570 RCV003765584 RCV003779829 RCV002521987 RCV001068161 RCV003781848 RCV003781849 RCV003781850 RCV003782929 RCV003783712 RCV003783714 RCV003783716 RCV003781415 RCV003781491 RCV003789454 RCV003779413 RCV003779414 RCV003808344 RCV003806897 RCV003791786 RCV003805711 RCV003801507 RCV003804186 RCV003802807 RCV003794451 RCV003796949 RCV003808992 RCV003801789 RCV003802062 RCV003802506 RCV003805088 RCV003812287 RCV000705481 RCV003766125 RCV001043861 RCV001865629 RCV003767252 RCV001238278 RCV002531909 RCV000686454 RCV005223077 RCV003767964 RCV001868256 RCV003767979 RCV001855578 RCV001861796 RCV001861816 RCV001861844 RCV005223114 RCV001070181 RCV002530702 RCV001855608 RCV001855534 RCV001214720 RCV005223107 RCV001855498 RCV001855591 RCV001861828 RCV001218806 RCV001043279 RCV000819008 RCV001855520 RCV003767998 RCV001855464 RCV003767970 RCV002530736 RCV005019125 RCV001378697 RCV001855587 RCV003767969 RCV001206756 RCV001386358 RCV001243748 RCV001868227 RCV003768013 RCV001248721 RCV001861790 RCV000696910 RCV000693826 RCV003768167 RCV000806351 RCV001856244 RCV000792982 RCV000817898 RCV002549733 RCV001862440 RCV001043921 RCV001054291 RCV001068784 RCV001059597 RCV001377261 RCV001205178 RCV001206725 RCV003770292 RCV002514378 RCV001305508 RCV001295061	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs104894592	RCV005887194	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs758785463	RCV001252580	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lysosomal storage disease	Likely pathogenic; Pathogenic	rs104894592	RCV006252548	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs104894598	RCV005901500	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis	Likely pathogenic; Pathogenic	rs104894592, rs104894594, rs104894595, rs148881970, rs749140168, rs147036053, rs1353058781	RCV001030805 RCV001030808 RCV001030807 RCV001030809 RCV001030806 RCV001030810 RCV001030811	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-III-B	Likely pathogenic; Pathogenic	rs104894601, rs1567890245, rs1352416909, rs2143086378, rs766000735, rs2143075344, rs2143075470, rs2143075902, rs2143076561, rs748042028, rs1261241939, rs2143086665, rs879111128, rs749338526, rs2092930339, rs767510451, rs1447465424, rs1460796923, rs2143111795, rs2143108228, rs2143076795, rs2143099180, rs2143113566, rs2143110493, rs2092928624, rs771151036, rs2143077277, rs760370189, rs2143113857, rs1279412522, rs2092909557, rs2143086910, rs2143088088, rs1379877908, rs2143082104, rs2143109467, rs1201516783, rs2092912932, rs1209988199, rs2143116788, rs2092906864, rs2143099555, rs104894600, rs1452185692, rs2143082538, rs2143086826, rs2092906340, rs2143074939, rs1305299665, rs1453761645, rs1253870232, rs527236038, rs527236037, rs104894590, rs104894591, rs104894592, rs483352897, rs104894594, rs104894595, rs104894597, rs104894598, rs118204024, rs118204025, rs104894596, rs2143087145, rs2143076634, rs965226394, rs2510653910, rs2510656344, rs727504028, rs2510652118, rs2510653397, rs2510649793, rs2510652024, rs1460260015, rs104894599, rs1276484671, rs2510658575, rs1165365401, rs2510649581, rs753670246, rs2510656611, rs2510660819, rs796052122, rs796052123, rs2510656745, rs2510653907, rs2510653834, rs1488695477, rs2510650554, rs1052471595, rs2510650296, rs2510653303, rs2510656576, rs1884683982, rs1262407073, rs2510653298, rs2092930484, rs2510652165, rs2510649972, rs1430122594, rs2510660141, rs2510652171, rs2510660651, rs886039894, rs886039895, rs886042073, rs2510660046, rs886043792, rs775364669, rs375103824, rs2510658779, rs2092909477, rs2510652210, rs1383530983, rs780376108, rs1013345784, rs2510659172, rs2510659337, rs2510660968, rs2510660121, rs2510658578, rs2510659075, rs753520553, rs2510650286, rs750741772, rs1213961819, rs2510658609, rs2510653230, rs2510652219, rs2510650548, rs1335776131, rs2092914076, rs2510653897, rs376090795, rs1325661354, rs1244655820, rs752131463, rs148881970, rs555145190, rs1555621448, rs1555621442, rs1431589133, rs1555621454, rs756865833, rs770684838, rs1555622019, rs1555622441, rs1555622351, rs1555622488, rs1555622545, rs1555622443, rs1555622559, rs1215582852, rs751203469, rs1555621402, rs1555621432, rs1445294968, rs1555622002, rs1358994052, rs768918822, rs1180591588, rs1555622242, rs904672363, rs768814260, rs1555622354, rs200909691, rs1555622533, rs1195831432, rs1555621397, rs758785463, rs764134891, rs747155746, rs1555622000, rs749140168, rs1555622250, rs1485628563, rs114625063, rs138387856, rs1250949842, rs778021009, rs1396150639, rs992677795, rs762031686, rs1555622505, rs763299645, rs1364203992, rs1230894568, rs1567891258, rs1567890328, rs1567893399, rs147036053, rs1599253805, rs1599253815, rs1353058781, rs2092925958, rs2092926507, rs1245939928, rs1183634153, rs2092905845, rs2092920511, rs2092906798, rs1599255987, rs2092909726, rs1270564492, rs2092912895, rs398123281, rs1246249632, rs746876753	RCV003770635 RCV001377344 RCV001378696 RCV001379037 RCV001378698 RCV001380076 RCV001390490 RCV001383917 RCV001380662 RCV001383909 RCV001382928 RCV001390366 RCV001389201 RCV001380522 RCV001885164 RCV002227558 RCV001825122 RCV001844476 RCV001913835 RCV001904871 RCV001939409 RCV001970854 RCV001888331 RCV001934592 RCV002022742 RCV002005475 RCV001993306 RCV002000089 RCV002007460 RCV001939506 RCV002025052 RCV001876710 RCV001895807 RCV001893693 RCV001967204 RCV001972426 RCV001953475 RCV001953487 RCV002043424 RCV002030058 RCV001951137 RCV001951172 RCV002015294 RCV001885892 RCV002001268 RCV001944084 RCV001951307 RCV001963100 RCV001975040 RCV002018528 RCV001906752 RCV001914104 RCV001922252 RCV000132721 RCV000132722 RCV000001626 RCV000001627 RCV000001628 RCV000001630 RCV000001631 RCV000001632 RCV000001633 RCV000001634 RCV000001635 RCV000001636 RCV000001637 RCV000001638 RCV002238562 RCV002271923 RCV002291493 RCV002291517 RCV002291518 RCV000672966 RCV002306795 RCV002307903 RCV002308200 RCV002308304 RCV003064442 RCV003050471 RCV003064443 RCV003041306 RCV003064444 RCV003050473 RCV003088440 RCV003100650 RCV002636551 RCV002512509 RCV003479050 RCV001382879 RCV002760999 RCV002791925 RCV002797040 RCV002839411 RCV002833649 RCV002829468 RCV002862745 RCV002857746 RCV002847846 RCV002909476 RCV002923656 RCV003005516 RCV003022820 RCV003029393 RCV003055225 RCV003049183 RCV003054861 RCV003046951 RCV003043925 RCV005021815 RCV000256392 RCV000256406 RCV003765584 RCV003779829 RCV002521987 RCV000984288 RCV003781848 RCV003781849 RCV003781850 RCV003782929 RCV003783712 RCV003783714 RCV003783716 RCV003781415 RCV003781491 RCV003789454 RCV003779413 RCV003779414 RCV003808344 RCV003806897 RCV003791786 RCV003805711 RCV003801507 RCV003804186 RCV003802807 RCV003794451 RCV003796949 RCV003808992 RCV003801789 RCV003802062 RCV003802506 RCV003805088 RCV003812287 RCV000409594 RCV000411961 RCV000023780 RCV000501703 RCV003767252 RCV000761492 RCV002531909 RCV000625994 RCV000625993 RCV000668625 RCV000671657 RCV000669838 RCV000672345 RCV000670584 RCV000672989 RCV000673858 RCV000674604 RCV000673342 RCV000673096 RCV000673658 RCV000670847 RCV000666920 RCV000674368 RCV000667678 RCV000674393 RCV000674403 RCV000670027 RCV000673421 RCV000671324 RCV000667938 RCV000668905 RCV000668384 RCV000673135 RCV000673953 RCV001218806 RCV000666363 RCV000668171 RCV000669309 RCV000669494 RCV000673123 RCV000672689 RCV000666674 RCV000674339 RCV000668973 RCV000668095 RCV000668224 RCV000672754 RCV000668600 RCV000674791 RCV000672859 RCV000668870 RCV000668270 RCV000665801 RCV000674055 RCV000674184 RCV000668984 RCV000674733 RCV000666575 RCV000668435 RCV000670297 RCV000696910 RCV000693826 RCV000714793 RCV000721982 RCV000761448 RCV000779220 RCV001856244 RCV000792982 RCV000817898 RCV000989851 RCV000989853 RCV001862440 RCV001043921 RCV001054291 RCV001068784 RCV001059597 RCV001377261 RCV001205178 RCV001206725 RCV003388937 RCV001250668 RCV001263999 RCV001264000 RCV001264001 RCV000664563 RCV001305508 RCV001295061	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosistype IIIB	Likely pathogenic; Pathogenic	rs886042073, rs114625063, rs2092906798	RCV001250255 RCV001250253 RCV001250254	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NAGLU-related disorder	Likely pathogenic; Pathogenic	rs1567890245, rs118204025, rs2510652114, rs2510652026, rs1358994052, rs147036053	RCV003416297 RCV003894784 RCV003421149 RCV003412165 RCV004751657 RCV003396352	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sanfilippo syndrome	Pathogenic; Likely pathogenic	rs104894598, rs1244655820	RCV000590258 RCV000589472	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic; Pathogenic	rs1052471595, rs763299645	RCV003319203 RCV001838091	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2V	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS III	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE 3B	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE IIIB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS, TYPE IIIB	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SANFILIPPO SYNDROME TYPE B	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	29036792		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	28030838		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	28030838		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28030838		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	24278249		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28030838		★☆☆☆☆ Found in Text Mining only
Appendicitis	Appendicitis	BEFREE	31577737		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28122570		★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28122570		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31969655	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2V	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Brain atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	29606097	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31629678	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	3488138		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29606097	Associate	★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V	Charcot-Marie-Tooth Disease	CLINVAR_DG	10094189, 14984474, 20852935, 21712855, 25256447, 25818867, 26907177, 8650226, 9443875, 9443878, 9832037, 9950362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V	Charcot-Marie-Tooth Disease	UNIPROT_DG	25818867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V	Charcot-Marie-Tooth Disease	ORPHANET_DG	25818867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	25818867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	7472910		★☆☆☆☆ Found in Text Mining only
Chronic interstitial nephritis	Interstitial Nephritis	BEFREE	21757947		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28380198		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30062791, 30830657		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	25466957, 32578945, 33550137	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29955133	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30466980		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29068691		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31605509		★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	27538869		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	19416848		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	30062791		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30651179		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28122570		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	33811534	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15933803, 20852935, 21204211, 25818867		★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29606097, 31969655	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36359828	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	30681673		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	29661344		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	29036792		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	36413418	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	37065697	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	30551545		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease IIIB	Glycogen storage disease	Pubtator	30408744	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29348482		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30466980		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	30791405		★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	32578945	Associate	★☆☆☆☆ Found in Text Mining only
Hypersexuality state	Hypersexuality	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	29186350		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	9832037		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intermittent Claudication	Claudication	Pubtator	35298547	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28540990, 30681673		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33066744, 35298547	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27387432, 27530994, 28011057, 28063928, 30062791, 30393493, 31568610		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30062791, 30830657		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26925671		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28306536		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	9832037		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MPS III B	Mucopolysaccharidosis	BEFREE	10094189, 11068184, 11136549, 11153910, 11237686, 12049639, 12202988, 14984474, 15933803, 16151907, 16401642, 18218046, 19399896, 19416848, 20138557, 20197271, 21712855, 23380547, 23840811, 24266751, 25524704, 26907177, 27590925, 28751108, 30101150, 30408744, 30657762, 30802506, 30933722, 6809360, 8776591, 9443878, 9832037, 9950362		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	UNIPROT_DG	10094189, 11068184, 11153910, 11286389, 11793481, 11836372, 12202988, 14984474, 15933803, 16151907, 28101780, 9443875, 9443878, 9832037, 9950362		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	CLINVAR_DG	10094189, 11068184, 11153910, 11286389, 11668611, 11836372, 12202988, 14984474, 15300983, 16151907, 18218046, 19046346, 20040070, 20852935, 21204211, 21712855, 21910976, 21937992, 22976768, 23084433, 23100014, 23380547, 23661660, 23667853, 24314109, 25256447, 25466957, 25525159, 26075876, 26907177, 27590925, 28844463, 8650226, 9443875, 9443878, 9832037, 9950362		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	12202988, 21937992, 25818867, 27604308		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	ORPHANET_DG	16151907		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	BEFREE	21910976, 27100513		★☆☆☆☆ Found in Text Mining only
MPS III C	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MPS III D	Mucopolysaccharidosis	BEFREE	17397050, 21910976, 27100513		★☆☆☆☆ Found in Text Mining only
MPS III D	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	BEFREE	11068184, 27827379, 29916295, 30933722		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	LHGDN	11793481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	12049639, 18443291, 23667853, 25466957, 26907177, 29606097, 29979746, 30408744, 30802506, 31088528, 31952437, 32578945, 33550137, 34040605, 34329663, 34411609, 8650226, 9443875, 9832037, 9950362	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	21712855, 23840811, 25466957, 32578945	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	CLINVAR_DG	23380547, 9950362		★★☆☆☆ 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	BEFREE	11668611, 11793481, 14984474, 21910976, 22102531, 27016302, 27100513, 27590925, 28382573, 28921412, 30070758		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	BEFREE	31590383		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27814274		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19407829		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10882752, 17028906, 17101328, 22085494, 28030838, 29036792		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	29661344		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11850545, 11954550, 12706883, 17028906, 22085494		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30408744, 34040605	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19416848, 30408744, 30657762		★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	18174267		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 1A	Oculocutaneous albinism	BEFREE	30062791		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	29606097		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	9754694		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22102531		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	19416848		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	19416848		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	28939941		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	28122570, 28601117		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28901194, 30830657		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	30062791		★☆☆☆☆ Found in Text Mining only
Repetitive compulsive behavior	Repetitive compulsive behavior	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28751108		★☆☆☆☆ Found in Text Mining only
Sanfilippo syndrome type B	Sanfilippo Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	21685203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	29606097		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26925671		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombasthenia	Thrombasthenia	BEFREE	1606713		★☆☆☆☆ Found in Text Mining only
Urolithiasis	Urolithiasis	BEFREE	28653226		★☆☆☆☆ Found in Text Mining only