IDUA (alpha-L-iduronidase)

Gene

• Entrez ID: 3425
• Gene name: Alpha-L-iduronidase
• Gene symbol: IDUA
• Synonyms (NCBI Gene): IDA, MPS1, MPSI
• Chromosome: 4
• Chromosome location: 4p16.3
• Summary: This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4690223	G>A,T	Likely-pathogenic	Splice acceptor variant
rs11934801	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs121965019	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121965021	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965023	C>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs121965024	A>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965025	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs121965026	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965027	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965030	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs121965031	C>A,G,T	Pathogenic, uncertain-significance	Synonymous variant, coding sequence variant, stop gained, missense variant, non coding transcript variant
rs121965032	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121965033	T>C,G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs148789453	T>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs199794428	A>G,T	Pathogenic	Terminator codon variant, stop lost, non coding transcript variant
rs199801029	G>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200726100	C>G,T	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant
rs368454909	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs369090960	G>A,C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs387906504	T>G	Pathogenic	Stop lost, non coding transcript variant, terminator codon variant
rs398123254	G>A,C	Likely-pathogenic, pathogenic	Splice donor variant
rs398123256	G>A	Likely-pathogenic, pathogenic	Intron variant
rs398123258	C>-	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs532731688	C>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs587779401	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs727503967	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs745915863	G>A	Likely-pathogenic	Splice acceptor variant
rs746766617	C>G	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746936485	C>A,T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs754949360	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs756572099	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs761793564	->CT	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs762411583	G>A,C	Pathogenic	Intron variant, 5 prime UTR variant
rs762593235	->C	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant
rs762779421	G>A	Likely-pathogenic	Splice acceptor variant
rs762903007	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs764196171	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs768467230	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs772416503	C>G,T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs776098539	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs776787370	C>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs777295041	A>G	Pathogenic	Splice acceptor variant
rs779762183	->CCCCCATTTACA	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, inframe insertion
rs780615798	G>C	Pathogenic	Splice donor variant
rs786200915	->TGCTC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs794727017	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs794727701	G>A,C	Pathogenic	5 prime UTR variant, splice acceptor variant
rs794727840	G>A	Pathogenic	Splice donor variant
rs794727896	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025584	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs875989946	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs875989947	->CTGC	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs886043347	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs919151683	G>C	Likely-pathogenic	Splice donor variant
rs991612107	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs994902207	A>T	Likely-pathogenic	Splice acceptor variant
rs1033313360	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant
rs1064796754	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant, non coding transcript variant
rs1226056948	C>G	Pathogenic, uncertain-significance	Intron variant
rs1230096882	GAC>-	Likely-pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs1249951282	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1293215555	G>A	Likely-pathogenic	Splice donor variant
rs1340421020	G>C,T	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1356329915	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1430681871	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1434521185	G>A,C	Likely-pathogenic	Splice donor variant
rs1445719596	->CGCCCCC	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553916890	G>A	Likely-pathogenic	Splice acceptor variant
rs1553916950	->A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs1553916957	G>A	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1553917044	->A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1553917192	G>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs1553917209	C>-	Likely-pathogenic, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1553917428	T>G	Pathogenic	Splice donor variant
rs1553917483	G>T	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs1553917558	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917566	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917580	C>G	Likely-pathogenic	Splice donor variant
rs1553917699	A>G	Likely-pathogenic	Splice acceptor variant
rs1553917733	A>G	Likely-pathogenic	Splice acceptor variant
rs1553917735	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917737	TG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917746	TGGACTACTGGGCCCGACCAGGCCC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917747	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917754	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553917756	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1560545883	T>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577541504	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1577544451	G>A	Pathogenic-likely-pathogenic	Splice donor variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016737	hsa-miR-335-5p	Microarray	18185580
MIRT1059713	hsa-miR-103a	CLIP-seq
MIRT1059714	hsa-miR-107	CLIP-seq
MIRT1059715	hsa-miR-128	CLIP-seq
MIRT1059716	hsa-miR-148a	CLIP-seq
MIRT1059717	hsa-miR-148b	CLIP-seq
MIRT1059718	hsa-miR-152	CLIP-seq
MIRT1059719	hsa-miR-3616-3p	CLIP-seq
MIRT1059720	hsa-miR-3944-5p	CLIP-seq
MIRT1059721	hsa-miR-4436b-3p	CLIP-seq
MIRT1059713	hsa-miR-103a	CLIP-seq
MIRT1059714	hsa-miR-107	CLIP-seq
MIRT1059715	hsa-miR-128	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003940	Function	L-iduronidase activity	IBA
GO:0003940	Function	L-iduronidase activity	IDA	24036510
GO:0003940	Function	L-iduronidase activity	IEA
GO:0003940	Function	L-iduronidase activity	TAS	2470345
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005984	Process	Disaccharide metabolic process	TAS	2470345
GO:0006027	Process	Glycosaminoglycan catabolic process	IEA
GO:0006027	Process	Glycosaminoglycan catabolic process	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	IEA
GO:0030200	Process	Heparan sulfate proteoglycan catabolic process	TAS
GO:0030209	Process	Dermatan sulfate proteoglycan catabolic process	IDA	24036510
GO:0030209	Process	Dermatan sulfate proteoglycan catabolic process	IEA
GO:0030211	Process	Heparin proteoglycan catabolic process	IEA
GO:0030211	Process	Heparin proteoglycan catabolic process	IMP	21873421
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	TAS
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 252800
• HGNC: 5391
• e!Ensembl: ENSG00000127415

Protein

• UniProt ID: P35475
• Protein name: Alpha-L-iduronidase (EC 3.2.1.76)
• PDB: 3W81, 3W82, 4KGJ, 4KGL, 4KH2, 4MJ2, 4MJ4, 4OBR, 4OBS, 6I6R, 6I6X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01229	Glyco_hydro_39	30 → 543	Glycosyl hydrolases family 39	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous.
• Sequence:

  MRPLRPRAALLALLASLLAAPPVAPAEAPHLVHVDAARALWPLRRFWRSTGFCPPLPHSQ
  ADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTRGSTGRGLSYNFTHLDGYLDL
  LRENQLLPGFELMGSASGHFTDFEDKQQVFEWKDLVSSLARRYIGRYGLAHVSKWNFETW
  NEPDHHDFDNVSMTMQGFLNYYDACSEGLRAASPALRLGGPGDSFHTPPRSPLSWGLLRH
  CHDGTNFFTGEAGVRLDYISLHRKGARSSISILEQEKVVAQQIRQLFPKFADTPIYNDEA
  DPLVGWSLPQPWRADVTYAAMVVKVIAQHQNLLLANTTSAFPYALLSNDNAFLSYHPHPF
  AQRTLTARFQVNNTRPPHVQLLRKPVLTAMGLLALLDEEQLWAEVSQAGTVLDSNHTVGV
  LASAHRPQGPADAWRAAVLIYASDDTRAHPNRSVAVTLRLRGVPPGPGLVYVTRYLDNGL
  CSPDGEWRRLGRPVFPTAEQFRRMRAAEDPVAAAPRPLPAGGRLTLRPALRLPSLLLVHV
  CARPEKPPGQVTRLRALPLTQGQLVLVWSDEHVGSKCLWTYEIQFSQDGKAYTPVSRKPS
  TFNLFVFSPDTGAVSGSYRVRALDYWARPGPFSDPVPYLEVPVPRGPPSPGNP

• Sequence length: 653

Pathways

KEGG:

Glycosaminoglycan degradation
Metabolic pathways
Lysosome

Reactome:

HS-GAG degradation
CS/DS degradation
MPS I - Hurler syndrome

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
Colon adenocarcinoma	Pathogenic	rs777295041	RCV005893805	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hypokalemia-hypomagnesemia	Likely pathogenic; Pathogenic	rs2153023287	RCV004542135	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hurler syndrome	Likely pathogenic; Pathogenic	rs200448421, rs2153022399, rs886043347, rs2153015621, rs766574778, rs2153023301, rs2153023287, rs2153022799, rs2153021634, rs2153023210, rs2153022881, rs2153021926, rs1293215555, rs781534097, rs199801029, rs727503966, rs727503967, rs2534102903, rs794726877, rs794726878, rs794727240, rs754154200, rs992336192, rs794727896, rs777295041, rs762411583, rs869025584, rs764196171, rs758452450, rs875989947, rs148789453, rs121965031, rs121965019, rs121965021, rs121965022, rs121965023, rs121965024, rs121965025, rs121965026, rs121965027, rs786200915, rs121965029, rs121965032, rs121965033, rs2534077620, rs2534102386, rs2534092221, rs2534082851, rs2534087208, rs2534084526, rs1553917209, rs1553917754, rs772416503, rs1553916957, rs776098539, rs1230096882, rs762903007, rs1340421020, rs398123254, rs761793564, rs1238128027, rs779762183, rs746766617, rs1553917304, rs1445719596, rs1553917428, rs1434521185, rs1553917733, rs745915863, rs1553917735, rs746936485, rs1553917747, rs1553917746, rs1553917756, rs1226056948, rs780615798, rs1553916890, rs1553916950, rs794727701, rs770087890, rs1553917044, rs762779421, rs1033313360, rs1430681871, rs994902207, rs1553917566, rs1553917192, rs1553917216, rs1553917580, rs1214495121, rs776787370, rs750496798, rs919151683, rs1553917737, rs756572099, rs754949360, rs1553917318, rs991612107, rs1553917455, rs1553917483, rs1553917558, rs1553917699, rs1553914737, rs1553914762, rs1553914740, rs1553914935, rs754966840, rs1560545883, rs368454909, rs1356329915, rs753767675, rs1577541504, rs774605197, rs931627770, rs1386109118, rs1456090810, rs1443642527, rs757928590, rs776305028, rs1715120049, rs398123256, rs398123259, rs398123260	RCV001374701 RCV001376071 RCV005038174 RCV003238366 RCV005040374 RCV001806437 RCV001824223 RCV001824224 RCV001843996 RCV005031998 RCV005256514 RCV002052114 RCV002052213 RCV002249078 RCV000180108 RCV006249366 RCV000173986 RCV005042851 RCV000173082 RCV000592086 RCV000175553 RCV004820929 RCV005034825 RCV000597524 RCV000666721 RCV000669065 RCV000672514 RCV001169956 RCV000670756 RCV000211625 RCV000668680 RCV000337972 RCV000012683 RCV000012685 RCV000012689 RCV000012690 RCV000012691 RCV000012692 RCV004795397 RCV000173657 RCV000012696 RCV000169784 RCV000666715 RCV000984188 RCV000012703 RCV003338925 RCV003991057 RCV005036882 RCV004437809 RCV005038695 RCV004594972 RCV001007594 RCV000984187 RCV000592196 RCV000592777 RCV000674369 RCV000672356 RCV000674084 RCV000665646 RCV000667300 RCV000671317 RCV000670111 RCV000666385 RCV000665114 RCV000665229 RCV000674066 RCV000670452 RCV000673692 RCV000668513 RCV000669579 RCV000671680 RCV000668161 RCV000670240 RCV000670523 RCV000668159 RCV000669453 RCV000669435 RCV000672407 RCV000666654 RCV000667145 RCV000673460 RCV000669996 RCV000674145 RCV000674301 RCV000670346 RCV000674751 RCV000673620 RCV000667572 RCV000670254 RCV000672521 RCV000667780 RCV000668628 RCV000674564 RCV000672611 RCV000673377 RCV000665761 RCV000673313 RCV000672546 RCV000672238 RCV000665162 RCV000674420 RCV000667005 RCV000671009 RCV000669732 RCV000666799 RCV000670935 RCV000672150 RCV000673922 RCV000665207 RCV000669455 RCV000673251 RCV000672729 RCV002485752 RCV000761241 RCV005036124 RCV005253138 RCV005047056 RCV001027958 RCV001374702 RCV002482062 RCV003992434 RCV005036361 RCV002497675 RCV005036485 RCV001726458 RCV001335171 RCV002275339 RCV000173987 RCV000175551 RCV001824122	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IDUA-related core myopathy	Likely pathogenic	rs2534087208	RCV004587627	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IDUA-related disorder	Pathogenic; Likely pathogenic	rs148789453, rs121965019, rs368454909, rs2534102386, rs2534079094, rs1445719596, rs1389029860, rs398123260	RCV004751408 RCV003398488 RCV005871138 RCV003412415 RCV003914095 RCV003892522 RCV004751945 RCV003390774	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Interstitial pneumonitis	Pathogenic	rs2153022916	RCV001526617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis type 1	Likely pathogenic; Pathogenic	rs1044231895, rs752800292, rs200448421, rs1715233169, rs2153022990, rs2153023278, rs2153015588, rs2153015709, rs2153021921, rs1033313360, rs2153022188, rs2153022202, rs2153022225, rs2153022228, rs2153022415, rs867456178, rs886043347, rs1193085446, rs2153015621, rs2153015644, rs2153022229, rs1715175636, rs1715216061, rs2153021904, rs759639526, rs1434521185, rs398123259, rs2153022263, rs1330366594, rs1553914737, rs398123254, rs766574778, rs2153022938, rs2153022958, rs2153023287, rs2153022799, rs2153021978, rs767140903, rs1715086540, rs2153021976, rs2153022895, rs2153023210, rs875989947, rs2153022443, rs148789453, rs374779600, rs2153021628, rs1715084294, rs2153022358, rs2153021702, rs776098539, rs567921262, rs2153022009, rs2153022377, rs2153022390, rs759390416, rs2153015244, rs1290558249, rs758190824, rs2153021698, rs2153022341, rs1416328981, rs1315260083, rs2153022881, rs2153021926, rs1354690186, rs781534097, rs199801029, rs727503967, rs2534092933, rs2534102903, rs745915863, rs794726877, rs794726878, rs1430681871, rs140294059, rs794727240, rs2534086833, rs1560546897, rs754154200, rs992336192, rs2534097623, rs2534099860, rs1374359136, rs794727840, rs794727896, rs750496798, rs766603377, rs753905054, rs1715068106, rs2534099760, rs2534093111, rs2534003198, rs2534003798, rs2534083333, rs4690223, rs2534083260, rs2534097045, rs777295041, rs762411583, rs869025584, rs764196171, rs758452450, rs747981483, rs121965031, rs121965019, rs121965021, rs121965022, rs121965023, rs121965025, rs121965026, rs121965027, rs387906504, rs786200915, rs121965029, rs121965032, rs121965033, rs368454909, rs2534089112, rs1400939830, rs1463087550, rs2534093263, rs2534085334, rs1219417104, rs754212720, rs2534082809, rs2534092221, rs2534084817, rs2534098627, rs1553916957, rs751547595, rs1715120665, rs2534077097, rs2534084353, rs1715262294, rs2534090058, rs2534102276, rs2534097073, rs1276524614, rs754966840, rs2534104335, rs2534002869, rs587779401, rs2534007813, rs2534087492, rs577729544, rs2534087208, rs199794428, rs1553917209, rs1553917754, rs772416503, rs1264013707, rs1230096882, rs762903007, rs1340421020, rs761793564, rs1249951282, rs1238128027, rs779762183, rs746766617, rs1553917304, rs1445719596, rs1553917428, rs1553917733, rs746936485, rs1553917756, rs1226056948, rs780615798, rs794727701, rs1293215555, rs770087890, rs1553917044, rs762779421, rs994902207, rs1553917566, rs1553917192, rs1553917216, rs1214495121, rs776787370, rs919151683, rs756572099, rs754949360, rs991612107, rs1553917455, rs1553917483, rs1553917699, rs1553914762, rs1553914740, rs1553914935, rs369090960, rs1577544451, rs1356329915, rs753767675, rs1577508778, rs1577508801, rs1577541504, rs774605197, rs1715086654, rs1715123409, rs931627770, rs1715188461, rs1386109118, rs1715237631, rs1220371654, rs1715290919, rs727503966, rs1715035049, rs1715069355, rs1715179164, rs1456090810, rs1560531755, rs1297784711, rs371397270, rs1715293163, rs1713799895, rs1252941339, rs1443642527, rs1461124319, rs757928590, rs1713866822, rs1389029860, rs776305028, rs1715120049, rs398123256, rs398123258, rs398123260, rs200726100	RCV001321820 RCV001387945 RCV001865868 RCV001377178 RCV001377750 RCV001378365 RCV001378559 RCV001379234 RCV001377572 RCV001381788 RCV001385939 RCV001380663 RCV001390271 RCV001385364 RCV001382944 RCV001388618 RCV001380386 RCV001380046 RCV001385791 RCV001390270 RCV001383254 RCV002032547 RCV006274245 RCV001882889 RCV001779451 RCV005115074 RCV005430825 RCV003754918 RCV002034567 RCV003754919 RCV001868850 RCV001825037 RCV005645299 RCV001868861 RCV001868862 RCV001869832 RCV002542757 RCV002028654 RCV002046291 RCV001961290 RCV002050273 RCV002037654 RCV001939406 RCV001934522 RCV001894829 RCV002021314 RCV001993984 RCV002007160 RCV002035284 RCV001926726 RCV001942241 RCV001942261 RCV001945815 RCV001960688 RCV001994868 RCV001951202 RCV001975007 RCV001972549 RCV001953583 RCV001975064 RCV001956542 RCV001956544 RCV002042095 RCV002041304 RCV001956964 RCV002043892 RCV004801138 RCV002238558 RCV002240078 RCV003101337 RCV000208605 RCV001248893 RCV002302453 RCV002469955 RCV003090738 RCV000208594 RCV001248919 RCV002607336 RCV002603398 RCV001249025 RCV002629074 RCV002624267 RCV002629390 RCV002651787 RCV002651790 RCV002651791 RCV003105080 RCV003591695 RCV001249042 RCV002587627 RCV002626287 RCV002761384 RCV002810113 RCV002815878 RCV002833965 RCV002866370 RCV002862815 RCV002907914 RCV002938332 RCV003018111 RCV003015089 RCV000208607 RCV000208601 RCV000208593 RCV000208592 RCV000208613 RCV001956540 RCV000802940 RCV000780351 RCV000384297 RCV000208595 RCV001851807 RCV005252031 RCV000780350 RCV001851808 RCV001204340 RCV000208602 RCV000208610 RCV000208598 RCV003591628 RCV000588505 RCV001248726 RCV001248897 RCV006274421 RCV003592046 RCV003592393 RCV003592577 RCV003592511 RCV003592648 RCV003593295 RCV003593296 RCV003593297 RCV003593298 RCV003593300 RCV003591421 RCV003592066 RCV003592163 RCV003755087 RCV003755220 RCV003755466 RCV003755353 RCV003755442 RCV003755528 RCV003755679 RCV003755699 RCV003755736 RCV003755790 RCV003755825 RCV003755737 RCV003755845 RCV003755969 RCV003756469 RCV003811902 RCV003844508 RCV003879814 RCV004690507 RCV005252039 RCV001249043 RCV000547146 RCV000587377 RCV001215791 RCV000780349 RCV000631454 RCV001378363 RCV001861834 RCV001861745 RCV000781475 RCV005252057 RCV001061720 RCV001249440 RCV002530682 RCV000794373 RCV001387754 RCV000807531 RCV002532101 RCV001232855 RCV000807158 RCV001378536 RCV001051181 RCV003591769 RCV001224049 RCV001380047 RCV001043397 RCV001387753 RCV004800531 RCV001861838 RCV006273978 RCV001203815 RCV001065448 RCV001389275 RCV001855539 RCV003754884 RCV001244712 RCV001855504 RCV004948562 RCV002532146 RCV001214746 RCV001868270 RCV002532127 RCV001210649 RCV001233076 RCV003591770 RCV001855526 RCV002530697 RCV005632613 RCV001247821 RCV001390269 RCV001192506 RCV003323676 RCV003768000 RCV000703774 RCV000790540 RCV000790541 RCV000790543 RCV000806468 RCV000792346 RCV000791473 RCV000811149 RCV000807838 RCV000794867 RCV003591830 RCV001070890 RCV001058705 RCV001060568 RCV001062380 RCV001042026 RCV001048633 RCV001066248 RCV001068754 RCV001049477 RCV001060767 RCV001174838 RCV001194421 RCV001194418 RCV001194417 RCV001193755 RCV001194420 RCV001218009 RCV001222699 RCV001206408 RCV001207363 RCV001210161 RCV001218712 RCV001222698 RCV001236736 RCV001229775 RCV001233538 RCV001231643 RCV002537667 RCV001880075 RCV001269274 RCV001248916 RCV001387944 RCV000588926 RCV001249024 RCV000208599 RCV004948175	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-I-H/S	Likely pathogenic; Pathogenic	rs2153022399, rs1033313360, rs886043347, rs2153022229, rs2153015607, rs398123254, rs766574778, rs2153023210, rs199801029, rs727503967, rs2534084987, rs2534079401, rs2534003429, rs2534097292, rs2534089061, rs2534085607, rs756131787, rs2534008343, rs2534089880, rs2534082785, rs2534003263, rs2534077519, rs2534084879, rs2534098579, rs2534090101, rs2534102903, rs794726877, rs992336192, rs794727896, rs777295041, rs762411583, rs869025584, rs121965031, rs121965019, rs121965021, rs121965025, rs121965026, rs121965027, rs387906504, rs121965029, rs121965032, rs121965033, rs2534092221, rs2534087208, rs772416503, rs1230096882, rs762903007, rs1249951282, rs779762183, rs1226056948, rs994902207, rs1553917566, rs1214495121, rs919151683, rs754949360, rs754966840, rs368454909, rs753767675, rs774605197, rs1715086654, rs931627770, rs1386109118, rs727503966, rs1456090810, rs1297784711, rs1443642527, rs757928590, rs1389029860, rs776305028, rs1044231895, rs1715178056, rs1715210435, rs398123260	RCV003448402 RCV001823205 RCV005038174 RCV001821870 RCV004691440 RCV001810512 RCV005040374 RCV005031998 RCV005031662 RCV002498729 RCV002306511 RCV002306770 RCV002309635 RCV002309714 RCV002309780 RCV002309825 RCV002309895 RCV002310028 RCV002310037 RCV002309080 RCV002309234 RCV002309301 RCV002309427 RCV002306923 RCV002307170 RCV002310260 RCV005042851 RCV002505243 RCV005034825 RCV005042393 RCV002288837 RCV006273009 RCV002500671 RCV005044523 RCV000477890 RCV000763533 RCV002496329 RCV004795397 RCV000012694 RCV000012695 RCV000012697 RCV000012699 RCV000012700 RCV000012702 RCV005036882 RCV005038695 RCV005044877 RCV005034274 RCV005046854 RCV005034261 RCV001810477 RCV005034235 RCV002499181 RCV000012701 RCV005034245 RCV002493112 RCV005046875 RCV005034270 RCV005034266 RCV005046910 RCV002485752 RCV005036124 RCV005047056 RCV002497481 RCV001263615 RCV002482062 RCV005036336 RCV005036361 RCV002497675 RCV001810498 RCV005036485 RCV002480753 RCV001264188 RCV001264189 RCV001264190 RCV001263616 RCV001263617 RCV005031563	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-I-S	Likely pathogenic; Pathogenic	rs886043347, rs766574778, rs2153023210, rs199801029, rs727503967, rs2534102903, rs794726877, rs992336192, rs794727896, rs777295041, rs762411583, rs869025584, rs121965031, rs2534003354, rs121965019, rs121965021, rs121965025, rs121965026, rs121965029, rs121965032, rs121965033, rs2534092221, rs2534087208, rs772416503, rs1230096882, rs762903007, rs398123254, rs779762183, rs1033313360, rs994902207, rs1553917566, rs1214495121, rs919151683, rs754949360, rs754966840, rs368454909, rs753767675, rs774605197, rs931627770, rs1386109118, rs727503966, rs1456090810, rs1443642527, rs757928590, rs398123260	RCV005038174 RCV005040374 RCV005031998 RCV005031662 RCV002498729 RCV005042851 RCV002505243 RCV005034825 RCV005042393 RCV005031783 RCV000012688 RCV002500671 RCV005044523 RCV003237393 RCV000477890 RCV000763533 RCV002496329 RCV000012693 RCV005042034 RCV005031435 RCV005042035 RCV005036882 RCV005038695 RCV005044877 RCV005034274 RCV005046854 RCV005034261 RCV005034235 RCV002499181 RCV005034245 RCV002493112 RCV005046875 RCV005034270 RCV005034266 RCV005046910 RCV002485752 RCV005036124 RCV005047056 RCV002497481 RCV002482062 RCV005036336 RCV005036361 RCV002497675 RCV005036485 RCV002480753 RCV003338408	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-II	Likely pathogenic	rs368454909	RCV003340978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucopolysaccharidosis, MPS-IV-A	Likely pathogenic	rs200448421	RCV003229620	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs777295041	RCV005893806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs777295041	RCV005893807	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GITELMAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROXALURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDUA PSEUDODEFICIENCY	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS I	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS V	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS, CALCIUM OXALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS, CALCIUM OXALATE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PFAUNDLER-HURLER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; other	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	19903883		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	30887181		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	30082853		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	27633003		★☆☆☆☆ Found in Text Mining only
alpha-L-Iduronidase Deficiency	Mucopolysaccharidosis	CTD_human_DG	11159948, 15081804, 15194053, 19309154, 22822036		★☆☆☆☆ Found in Text Mining only
alpha-L-Iduronidase Deficiency	Mucopolysaccharidosis	BEFREE	12359140, 19751987, 24411223		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	17927985		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	16920160, 29232169, 29530004, 30226293, 31524033		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24282275, 25137017		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	BEFREE	24102521		★☆☆☆☆ Found in Text Mining only
beta-Galactosidase Deficiency	Beta-Galactosidase Deficiency	BEFREE	11758678		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	19844196		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	24368159	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29053416		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21402910, 28259529, 30693152		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33287763, 33836688	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	28619065		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27480069		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	27633003		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30601084		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28462595		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24368159	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	24368159	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25063032, 29925769		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30854056, 31506433, 31846768		★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	BEFREE	18792977, 31839529		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	30517303		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	31758674		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	15194053		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30820959		★☆☆☆☆ Found in Text Mining only
Corneal Injuries	Corneal injury	Pubtator	26899286	Inhibit	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	37651229	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	23898885	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	24368159	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31446444	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21873659		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21873659		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	21873659	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocardial Fibroelastosis	Endocardial Fibroelastosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa Junctional	Junctional epidermolysis bullosa	Pubtator	33764477	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	29143201		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	31467635		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	28721335		★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	30606745, 30737479		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23940287, 25722303, 25991676, 27819146, 30693152		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	23940287, 25722303, 25991676, 27819146, 30693152		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	28302345		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	24102521		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	23465405, 35787971	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	30606745, 30737479		★☆☆☆☆ Found in Text Mining only
Hartnup Disease	Hartnup Disease	BEFREE	19751987, 24411223		★☆☆☆☆ Found in Text Mining only
Hearing Loss, Mixed Conductive-Sensorineural	Hearing Loss	BEFREE	30517303		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	31758674	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	15862278		★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	31758674	Associate	★☆☆☆☆ Found in Text Mining only
Hemihyperplasia Isolated	Hemihyperplasia	Pubtator	11861306, 27910891	Associate	★☆☆☆☆ Found in Text Mining only
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	22280094		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	1533802		★☆☆☆☆ Found in Text Mining only
Hurler syndrome	Hurler syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hurler-Scheie Syndrome	Hurler-Scheie Syndrome	BEFREE	10466419, 10735634, 24368159, 28660346, 30575621, 31758674, 7550232		★☆☆☆☆ Found in Text Mining only
Hurler-Scheie Syndrome	Hurler-Scheie Syndrome	UNIPROT_DG	10466419, 10735634, 12559846, 15300847, 21394825, 7550232, 7550242, 8401515		★☆☆☆☆ Found in Text Mining only
Hurler-Scheie Syndrome	Hurler-Scheie Syndrome	GENOMICS_ENGLAND_DG	10735634, 27604308		★☆☆☆☆ Found in Text Mining only
Hurler-Scheie Syndrome	Hurler-Scheie Syndrome	CTD_human_DG	11159948, 15081804, 15194053, 19309154, 22822036		★☆☆☆☆ Found in Text Mining only
Hurler-Scheie Syndrome	Hurler-Scheie Syndrome	CLINVAR_DG	11735025, 1301196, 1301941, 19751987, 22976768, 23786846, 24368159, 29393969		★☆☆☆☆ Found in Text Mining only
Hurler-Scheie Syndrome	Hurler-Scheie Syndrome	ORPHANET_DG	8680403		★☆☆☆☆ Found in Text Mining only
Hurler-Scheie syndrome	Hurler-Scheie Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	24368159	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of tonsils	Hypertrophy Of Tonsils	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29976218, 31839529		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	31065277, 31473686		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24956270		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16478590		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	27480069, 27775952, 30226293, 31665264		★☆☆☆☆ Found in Text Mining only
Iron-Refractory Iron Deficiency Anemia	Anemia	BEFREE	21618415		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33287763	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28814980, 30082853		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30887181		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28299790, 29925769		★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	BEFREE	24365320		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	20974778		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	28759042		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21402910, 24462521, 28259529, 30693152		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28299790		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29053416		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21796632, 23803695		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12072912, 16864798, 25063032, 27819146, 28299790, 29053416, 29736010, 30199249, 30693152, 30854056, 31121430		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25063032, 29925769		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	27633003		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22430208, 30854056		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31304092		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16478590		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24077583, 30528089, 31678774		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migrating partial seizures in infancy	Migrating Partial Seizures In Infancy	BEFREE	12396614, 28279069, 29442294, 31386236		★☆☆☆☆ Found in Text Mining only
MPS III B	Mucopolysaccharidosis	BEFREE	29942826, 6410119		★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	BEFREE	29623569		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidoses	Mucopolysaccharidosis	Pubtator	31758674	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis I	Mucopolysaccharidosis	BEFREE	10068662, 10356309, 10395377, 10466419, 10498248, 11555618, 11580912, 11825626, 12047386, 12189649, 12196045, 12359140, 12396614, 12517274, 12559846, 12818523, 1301196, 1301941, 14559116, 15081804, 15194053, 15236403, 15300847, 1551679, 1551868, 15703491, 15851016, 16435195, 17044753, 17311010, 17519893, 17920576, 18613275, 19396826, 19751987, 19783188, 19839758, 19844196, 19903883, 19954743, 21037085, 21081900, 21123810, 21176924, 21364962, 21383673, 21394825, 21480867, 21521498, 21639919, 21778683, 21831683, 22280094, 22472038, 23167761, 24077583, 24411223, 24480078, 24550296, 25088464, 25256405, 25298037, 26222335, 26407983, 26427607, 26446585, 26965916, 27196898, 27386755, 27431943, 27520059, 27742266, 27743312, 28088454, 28104572, 28150116, 28279069, 28302345, 28352175, 28595620, 28608934, 28619065, 28676128, 28721335, 28752568, 28842642, 29119347, 29122734, 29198892, 29239447, 29282708, 29310675, 29393969, 29442294, 29843745, 29940298, 30170069, 30286738, 30397627, 30528089, 31060789, 31194252, 31758674, 31827259, 31834922, 31839529, 7951228, 8086481, 8127052, 8213840, 8680403, 9391892, 9427149, 9748610, 9787109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis I	Mucopolysaccharidosis	CLINVAR_DG	10215409, 10466419, 10911525, 11735025, 12189649, 12203999, 12509712, 12559846, 1301196, 1301941, 14559116, 15300847, 15862278, 16435195, 18796143, 19396826, 19751987, 19839758, 21394825, 21480867, 21521498, 21639919, 21734815, 21831683, 22306676, 22976768, 23786846, 23837464, 24036510, 24314423, 24368159, 24698225, 24798265, 24875751, 27511503, 27520059, 27896125, 28752568, 7550242, 7951228, 8019563, 8213840, 8401515, 8664897, 8680403, 9391892, 9427149, 9748610, 9787109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	10702409, 12047386, 12509712, 19396826, 1946389, 199964, 21521498, 21639919, 22074387, 23959878, 24036510, 24368159, 26382970, 26899286, 27196898, 27520059, 29843745, 30849633, 31194252, 31319022, 31544795, 31678774, 31758674, 31786241, 33287330, 35073349, 35787971, 37651229, 38204164, 6274059, 7998955, 819651, 8328452, 8554071, 8700879, 9748610	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis I	Mucopolysaccharidosis	CTD_human_DG	11159948, 15081804, 15194053, 19309154, 22822036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis I	Mucopolysaccharidosis	LHGDN	11825626, 15862278, 16435195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	1550122, 22074387, 23898885, 29239447, 30052969, 36494569	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis I	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	27146977, 28660346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	27511503, 31544795	Associate	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	Pubtator	39754079	Inhibit	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	19690583, 19690584, 27718145, 28660346, 29046964, 29310675, 29735373, 30226843		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis type IVB	Mucopolysaccharidosis	BEFREE	11758678		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis V	Mucopolysaccharidosis	BEFREE	10466419, 14559116, 30052969, 30849633, 31758674, 7550232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis V	Mucopolysaccharidosis	GENOMICS_ENGLAND_DG	10735634, 23917744, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis V	Mucopolysaccharidosis	CTD_human_DG	11159948, 15081804, 15194053, 19309154, 22822036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis V	Mucopolysaccharidosis	CLINVAR_DG	11735025, 1301196, 1301941, 19751987, 22976768, 23786846, 24368159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis V	Mucopolysaccharidosis	UNIPROT_DG	12559846, 15300847, 19396826, 21394825, 25256405, 7550232, 7550242, 8213840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis V	Mucopolysaccharidosis	ORPHANET_DG	8680403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis VII	Mucopolysaccharidosis	BEFREE	28530135		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis, MPS-IV-A	Mucopolysaccharidosis	BEFREE	18546277, 26740238, 28538597, 30136169, 31452203, 31590383		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	BEFREE	21889435		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	37171402	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22430208, 23940287, 24282275, 24462521, 25991676, 26398286, 26637805, 28334731, 28814980, 29736010, 31506433, 8097129		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28619065		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30887181		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Diseases	Sphingomyelinase deficiency	BEFREE	28728811		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27873024, 31275456		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	31275456	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	24282275		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24956270, 27508417		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	24956270, 27508417, 36901867	Associate	★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	CLINVAR_DG	10215409, 10466419, 10607946, 10735634, 10738517, 11735025, 11903343, 12203999, 12509712, 12559846, 1301196, 1301941, 14516901, 15081804, 15300847, 1550122, 16188808, 16435195, 16435211, 16438163, 17570076, 17606547, 18463126, 19396826, 19751987, 21253827, 21394825, 21480867, 21963080, 22074387, 22976768, 23084433, 23430803, 23786846, 23837464, 24036510, 24368159, 24480078, 24798265, 24875751, 25098213, 25256405, 25525159, 25557439, 25614311, 26825088, 27146977, 27196898, 27392569, 27511503, 27520059, 28752568, 29801497, 7550232, 7550242, 7951228, 8019563, 8019572, 8213840, 8318992, 8328452, 8401515, 8664897, 8680403, 9391892, 9748610, 9787109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	BEFREE	10466419, 106124, 11159948, 11555618, 11580912, 11960268, 12196045, 12359140, 12559846, 15081804, 15236403, 15851016, 16435195, 16435198, 17519893, 17680664, 18523448, 18584975, 19751987, 19839758, 21037085, 21253856, 21778683, 21831683, 22280094, 23167761, 23837464, 24077583, 24102521, 24411223, 26222335, 26407983, 27146977, 27431943, 28170539, 29122734, 29128371, 29198892, 29282708, 29310675, 29393969, 29843745, 30052969, 30073179, 30120129, 30170069, 31065277, 3118714, 31308540, 31473686, 31639289, 31678774, 31758674, 4198969, 6410119, 6412235, 6421718, 6766899, 6796763, 7550232, 7849567, 817693, 817912, 818611, 819189, 8213840, 8328452, 8664897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	UNIPROT_DG	10466419, 10735634, 12559846, 1301941, 15300847, 19396826, 21394825, 24036510, 7550232, 7550242, 7951228, 8019563, 8328452, 8401515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	GENOMICS_ENGLAND_DG	10735634, 23917744, 27604308, 7985044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	CTD_human_DG	11159948, 15081804, 15194053, 19309154, 22822036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	ORPHANET_DG	8680403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	25197064		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30120129		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scheie syndrome	Scheie Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Compression	Spinal cord compression	Pubtator	24368159	Associate	★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	19642098, 28665450		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21796632, 23803695		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29805692		★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26398286, 28539250, 31121430, 31575759		★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	BEFREE	1525210		★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	30102296		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	24956270		★☆☆☆☆ Found in Text Mining only