Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9509
Gene name	ADAM metallopeptidase with thrombospondin type 1 motif 2
Gene symbol	ADAMTS2
Synonyms (NCBI Gene)	ADAM-TS2ADAMTS-2ADAMTS-3EDSDERMSNPIPC I-NPPCI-NPPCINPPCPNIPNPI
Chromosome	5
Chromosome location	5q35.3
Summary	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs112155474	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs137853146	G>A	Pathogenic	Stop gained, coding sequence variant
rs137853147	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs141650732	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs143764421	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs145109914	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs147438064	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs150989902	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs376058580	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs547548078	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs565885690	A>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs568040559	AGCAGC>-,AGC,AGCAGCAGC,AGCAGCAGCAGC,AGCAGCAGCAGCAGC,AGCAGCAGCAGCAGCAGCAGC,AGCAGCAGCAGCAGCAGCAGCAGC	Uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs775509290	->AGGAGCGGC	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion
rs966437723	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1057517277	CTGTGCC>-	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, coding sequence variant, intron variant
rs1064794627	GGCGGCAGGAGCGGCGGCGGC>-,GGCGGCAGGAGCGGCGGCGGCGGCGGCAGGAGCGGCGGCGGC	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, inframe insertion, coding sequence variant
rs1554123627	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554124086	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1554125059	->A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant

Show/Hide all (86)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038560	hsa-miR-106b-3p	CLASH	23622248
MIRT766594	hsa-miR-1286	CLIP-seq
MIRT766595	hsa-miR-1299	CLIP-seq
MIRT766596	hsa-miR-2115	CLIP-seq
MIRT766597	hsa-miR-3138	CLIP-seq
MIRT766598	hsa-miR-3175	CLIP-seq
MIRT766599	hsa-miR-3192	CLIP-seq
MIRT766600	hsa-miR-3665	CLIP-seq
MIRT766601	hsa-miR-3681	CLIP-seq
MIRT766602	hsa-miR-3919	CLIP-seq
MIRT766603	hsa-miR-4435	CLIP-seq
MIRT766604	hsa-miR-4520a-3p	CLIP-seq
MIRT766605	hsa-miR-4722-5p	CLIP-seq
MIRT766606	hsa-miR-4731-5p	CLIP-seq
MIRT766607	hsa-miR-4756-3p	CLIP-seq
MIRT766608	hsa-miR-4761-5p	CLIP-seq
MIRT766609	hsa-miR-4782-5p	CLIP-seq
MIRT766610	hsa-miR-516b	CLIP-seq
MIRT766611	hsa-miR-657	CLIP-seq
MIRT766612	hsa-miR-661	CLIP-seq
MIRT766613	hsa-miR-1203	CLIP-seq
MIRT766614	hsa-miR-4269	CLIP-seq
MIRT766615	hsa-miR-4438	CLIP-seq
MIRT766616	hsa-miR-5095	CLIP-seq
MIRT1545107	hsa-miR-1231	CLIP-seq
MIRT1545108	hsa-miR-2278	CLIP-seq
MIRT1545109	hsa-miR-3120-5p	CLIP-seq
MIRT1545110	hsa-miR-3922-5p	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT1545112	hsa-miR-4419a	CLIP-seq
MIRT1545113	hsa-miR-4460	CLIP-seq
MIRT1545114	hsa-miR-4468	CLIP-seq
MIRT1545115	hsa-miR-4510	CLIP-seq
MIRT1545116	hsa-miR-4708-3p	CLIP-seq
MIRT1545117	hsa-miR-4727-3p	CLIP-seq
MIRT1545118	hsa-miR-4732-5p	CLIP-seq
MIRT1545119	hsa-miR-4753-5p	CLIP-seq
MIRT766607	hsa-miR-4756-3p	CLIP-seq
MIRT1545120	hsa-miR-542-5p	CLIP-seq
MIRT1920216	hsa-miR-4436b-5p	CLIP-seq
MIRT1920216	hsa-miR-4436b-5p	CLIP-seq
MIRT1920216	hsa-miR-4436b-5p	CLIP-seq
MIRT1925840	hsa-miR-629	CLIP-seq
MIRT766594	hsa-miR-1286	CLIP-seq
MIRT2167206	hsa-miR-28-5p	CLIP-seq
MIRT2167207	hsa-miR-3139	CLIP-seq
MIRT2167208	hsa-miR-3977	CLIP-seq
MIRT1545112	hsa-miR-4419a	CLIP-seq
MIRT2167209	hsa-miR-4426	CLIP-seq
MIRT766603	hsa-miR-4435	CLIP-seq
MIRT2167210	hsa-miR-4459	CLIP-seq
MIRT1545115	hsa-miR-4510	CLIP-seq
MIRT2167211	hsa-miR-4639-5p	CLIP-seq
MIRT2167212	hsa-miR-4647	CLIP-seq
MIRT2167213	hsa-miR-4662b	CLIP-seq
MIRT2167214	hsa-miR-4686	CLIP-seq
MIRT2167215	hsa-miR-4700-3p	CLIP-seq
MIRT766605	hsa-miR-4722-5p	CLIP-seq
MIRT2167216	hsa-miR-4779	CLIP-seq
MIRT2167217	hsa-miR-485-3p	CLIP-seq
MIRT2167218	hsa-miR-548g	CLIP-seq
MIRT2167219	hsa-miR-708	CLIP-seq
MIRT2443154	hsa-miR-3149	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT2443155	hsa-miR-4735-5p	CLIP-seq
MIRT2443156	hsa-miR-4775	CLIP-seq
MIRT2443157	hsa-miR-483-5p	CLIP-seq
MIRT2443158	hsa-miR-590-3p	CLIP-seq
MIRT2443154	hsa-miR-3149	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT2443155	hsa-miR-4735-5p	CLIP-seq
MIRT2443156	hsa-miR-4775	CLIP-seq
MIRT2443157	hsa-miR-483-5p	CLIP-seq
MIRT2443158	hsa-miR-590-3p	CLIP-seq
MIRT2443154	hsa-miR-3149	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT2443155	hsa-miR-4735-5p	CLIP-seq
MIRT2443156	hsa-miR-4775	CLIP-seq
MIRT2443157	hsa-miR-483-5p	CLIP-seq
MIRT2443158	hsa-miR-590-3p	CLIP-seq
MIRT2443154	hsa-miR-3149	CLIP-seq
MIRT1545111	hsa-miR-411	CLIP-seq
MIRT2443155	hsa-miR-4735-5p	CLIP-seq
MIRT2443156	hsa-miR-4775	CLIP-seq
MIRT2443157	hsa-miR-483-5p	CLIP-seq
MIRT2443158	hsa-miR-590-3p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	TAS	10417273
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	TAS	10417273
GO:0008270	Function	Zinc ion binding	IEA
GO:0016485	Process	Protein processing	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	TAS
GO:0030324	Process	Lung development	IEA
GO:0030574	Process	Collagen catabolic process	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0043588	Process	Skin development	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
604539	218	ENSG00000087116

O95450

Protein name

A disintegrin and metalloproteinase with thrombospondin motifs 2 (ADAM-TS 2) (ADAM-TS2) (ADAMTS-2) (EC 3.4.24.14) (Procollagen I N-proteinase) (PC I-NP) (Procollagen I/II amino propeptide-processing enzyme) (Procollagen N-endopeptidase) (pNPI)

Protein function

Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01562	Pep_M12B_propep	57 → 212	Reprolysin family propeptide	Family
PF01421	Reprolysin	267 → 470	Reprolysin (M12B) family zinc metalloprotease	Domain
PF17771	ADAM_CR_2	482 → 551	ADAM cysteine-rich domain	Domain
PF00090	TSP_1	565 → 615	Thrombospondin type 1 domain	Domain
PF05986	ADAM_spacer1	723 → 837	ADAM-TS Spacer 1	Family
PF19030	TSP1_ADAMTS	858 → 913		Domain
PF19030	TSP1_ADAMTS	918 → 975		Domain
PF19030	TSP1_ADAMTS	979 → 1028		Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain.

Sequence

MDPPAGAARRLLCPALLLLLLLLPPPLLPPPPPPANARLAAAADPPGGPLGHGAERILAV
PVRTDAQGRLVSHVVSAATSRAGVRARRAAPVRTPSFPGGNEEEPGSHLFYNVTVFGRDL
HLRLRPNARLVAPGATMEWQGEKGTTRVEPLLGSCLYVGDVAGLAEASSVALSNCDGLAG
LIRMEEEEFFIEPLEKGLAAQEAEQGRVHVVYRRPPTSPPLGGPQALDTGASLDSLDSLS
RALGVLEEHANSSRRRARRHAADDDYNIEVLLGVDDSVVQFHGKEHVQKYLLTLMNIVNE
IYHDESLGAHINVVLVRIILLSYGKSMSLIEIGNPSQSLENVCRWAYLQQKPDTGHDEYH
DHAIFLTRQDFGPSGMQGYAPVTGMCHPVRSCTLNHEDGFSSAFVVAHETGHVLGMEHDG
QGNRCGDEVRLGSIMAPLVQAAFHRFHWSRCSQQELSRYLHSYDCLLDDPFAHDWPALPQ
LPGLHYSMNEQCRFDFGLGYMMCTAFRTFDPCKQLWCSHPDNPYFCKTKKGPPLDGTMCA
PGKHCFKGHCIWLTPDILKRDGSWGAWSPFGSCSRTCGTGVKFRTRQCDNPHPANGGRTC
SGLAYDFQLCSRQDCPDSLADFREEQCRQWDLYFEHGDAQHHWLPHEHRDAKERCHLYCE
SRETGEVVSMKRMVHDGTRCSYKDAFSLCVRGDCRKVGCDGVIGSSKQEDKCGVCGGDNS
HCKVVKGTFTRSPKKHGYIKMFEIPAGARHLLIQEVDATSHHLAVKNLETGKFILNEEND
VDASSKTFIAMGVEWEYRDEDGRETLQTMGPLHGTITVLVIPVGDTRVSLTYKYMIHEDS
LNVDDNNVLEEDSVVYEWALKKWSPCSKPCGGGSQFTKYGCRRRLDHKMVHRGFCAALSK
PKAIRRACNPQECSQPVWVTGEWEPCSQTCGRTGMQVRSVRCIQPLHDNTTRSVHAKHCN
DARPESRRACSRELCPGRWRAGPWSQCSVTCGNGTQERPVLCRTADDSFGICQEERPETA
RTCRLGPCPRNISDPSKKSYVVQWLSRPDPDSPIRKISSKGHCQGDKSIFCRMEVLSRYC
SIPGYNKLCCKSCNLYNNLTNVEGRIEPPPGKHNDIDVFMPTLPVPTVAMEVRPSPSTPL
EVPLNASSTNATEDHPETNAVDEPYKIHGLEDEVQPPNLIPRRPSPYEKTRNQRIQELID
EMRKKEMLGKF

Sequence length

1211

Interactions

View interactions

	Reactome
			Collagen biosynthesis and modifying enzymes Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ehlers-Danlos syndrome, dermatosparaxis type	Likely pathogenic; Pathogenic	rs2113200020, rs2113374735, rs1171795845, rs916172129, rs1417947464, rs2113218754, rs2113223246, rs1757906798, rs1182409555, rs2113513390, rs2113200198, rs1453785436, rs2127463432, rs2127463933, rs2113199896 View all (72 more)	RCV001375583 RCV001379916 RCV001383508 RCV001382331 RCV001385713 View all (84 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADAMTS2-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOSPARAXIS EHLERS-DANLOS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ 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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (89)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Rickets	Rickets	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	29792507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	26896913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	26896913, 8755795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	25515027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	8755795		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharochalasis	Blepharochalasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26907764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	27866946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36182916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	26745484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	26745484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	11408482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30081852, 36185995	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	24343133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	29760442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14719095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	BEFREE	29760442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37481583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	26896913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29614643, 29914585, 31134870, 31455461		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	15627763, 21905099, 26896913, 27447426, 29740312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29649548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatosparaxis Ehlers-Danlos syndrome	Dermatosparaxis Ehlers-Danlos Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30649532, 36182916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28611655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29649548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	11408482, 12646579, 15373769, 15389701, 16556917, 17118335, 23491141, 26765342, 31294848		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	Dermatosparaxis Ehlers-Danlos Syndrome	BEFREE	10417273, 11408482, 12646579, 15389701, 16556917, 31294848		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	Dermatosparaxis Ehlers-Danlos Syndrome	ORPHANET_DG	10417273		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	Dermatosparaxis Ehlers-Danlos Syndrome	CLINVAR_DG	10417273, 15389701, 1642226, 18973246, 23495203, 7735500, 8215497, 8986271		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	Dermatosparaxis Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	10417273, 26765342		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	Dermatosparaxis Ehlers-Danlos Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Esophagitis	Esophagitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	30420799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival hyperkeratosis	Gingival hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34758154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	24737138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	30029277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	26896913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26139392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26907764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19843864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	15627763, 21905099, 26896913, 27447426, 29740312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	23626673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	23626673, 26139392	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29614641, 30175974, 30903419, 31452260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	25515027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	34922439	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	29760442		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	30017017, 30616905, 30923322, 31455461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14719095, 21273615, 31578366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30616905, 31740729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28579430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	14730609	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12646579, 24752352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35879877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	24343133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29614643, 29914585, 31134870, 31455461		★★★★★ ★☆☆☆☆ Found in Text Mining only
prostatitis	Prostatitis	BEFREE	28715352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	30616905, 31740729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	14719095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	25522406	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	31491533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	BEFREE	31420786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28611655, 31420786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28176846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30218755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32817637	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2)