ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18)

Gene

• Entrez ID: 170692
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 18
• Gene symbol: ADAMTS18
• Synonyms (NCBI Gene): ADAMTS21, KNO2, MMCAT
• Chromosome: 16
• Chromosome location: 16q23.1
• Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs148319220	G>A,C	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs397515467	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs397515468	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs397515469	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT648906	hsa-miR-3662	HITS-CLIP	23824327
MIRT648905	hsa-miR-3163	HITS-CLIP	23824327
MIRT648904	hsa-miR-645	HITS-CLIP	23824327
MIRT648903	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT648902	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT648901	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT648900	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT648899	hsa-miR-3161	HITS-CLIP	23824327
MIRT648898	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT648897	hsa-miR-588	HITS-CLIP	23824327
MIRT648896	hsa-miR-599	HITS-CLIP	23824327
MIRT614472	hsa-miR-6854-5p	HITS-CLIP	23824327
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614470	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT573120	hsa-miR-6823-5p	PAR-CLIP	20371350
MIRT573119	hsa-miR-4680-5p	PAR-CLIP	20371350
MIRT614470	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614470	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614470	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614472	hsa-miR-6854-5p	HITS-CLIP	27418678
MIRT614472	hsa-miR-6854-5p	HITS-CLIP	27418678
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT648906	hsa-miR-3662	HITS-CLIP	23824327
MIRT648905	hsa-miR-3163	HITS-CLIP	23824327
MIRT648904	hsa-miR-645	HITS-CLIP	23824327
MIRT648903	hsa-miR-517-5p	HITS-CLIP	23824327
MIRT648902	hsa-miR-1251-5p	HITS-CLIP	23824327
MIRT648901	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT648900	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT648899	hsa-miR-3161	HITS-CLIP	23824327
MIRT648898	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT648897	hsa-miR-588	HITS-CLIP	23824327
MIRT648896	hsa-miR-599	HITS-CLIP	23824327
MIRT614472	hsa-miR-6854-5p	HITS-CLIP	23824327
MIRT614471	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614470	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT573120	hsa-miR-6823-5p	PAR-CLIP	20371350
MIRT573119	hsa-miR-4680-5p	PAR-CLIP	20371350
MIRT766502	hsa-miR-1197	CLIP-seq
MIRT766503	hsa-miR-1303	CLIP-seq
MIRT766504	hsa-miR-18a	CLIP-seq
MIRT766505	hsa-miR-18b	CLIP-seq
MIRT766506	hsa-miR-3123	CLIP-seq
MIRT766507	hsa-miR-3150a-3p	CLIP-seq
MIRT766508	hsa-miR-3175	CLIP-seq
MIRT766509	hsa-miR-3925-5p	CLIP-seq
MIRT766510	hsa-miR-4667-5p	CLIP-seq
MIRT766511	hsa-miR-4698	CLIP-seq
MIRT766512	hsa-miR-4700-5p	CLIP-seq
MIRT766513	hsa-miR-4731-5p	CLIP-seq
MIRT766514	hsa-miR-4735-3p	CLIP-seq
MIRT766515	hsa-miR-939	CLIP-seq
MIRT1925810	hsa-miR-1305	CLIP-seq
MIRT1925811	hsa-miR-186	CLIP-seq
MIRT1925812	hsa-miR-3133	CLIP-seq
MIRT1925813	hsa-miR-4789-3p	CLIP-seq
MIRT1925814	hsa-miR-498	CLIP-seq
MIRT2167183	hsa-miR-1224-5p	CLIP-seq
MIRT2167184	hsa-miR-1297	CLIP-seq
MIRT1925810	hsa-miR-1305	CLIP-seq
MIRT2167185	hsa-miR-26a	CLIP-seq
MIRT2167186	hsa-miR-26b	CLIP-seq
MIRT2167187	hsa-miR-27a	CLIP-seq
MIRT2167188	hsa-miR-27b	CLIP-seq
MIRT2167189	hsa-miR-3915	CLIP-seq
MIRT2167190	hsa-miR-3928	CLIP-seq
MIRT2167191	hsa-miR-410	CLIP-seq
MIRT2167192	hsa-miR-4455	CLIP-seq
MIRT2167193	hsa-miR-4465	CLIP-seq
MIRT2167194	hsa-miR-4689	CLIP-seq
MIRT1925814	hsa-miR-498	CLIP-seq
MIRT2167195	hsa-miR-513a-5p	CLIP-seq
MIRT2167196	hsa-miR-609	CLIP-seq
MIRT2383904	hsa-miR-1262	CLIP-seq
MIRT2167187	hsa-miR-27a	CLIP-seq
MIRT2167188	hsa-miR-27b	CLIP-seq
MIRT2167192	hsa-miR-4455	CLIP-seq
MIRT2383905	hsa-miR-4701-3p	CLIP-seq
MIRT2167195	hsa-miR-513a-5p	CLIP-seq
MIRT2167196	hsa-miR-609	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IMP	23818446
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	IDA	19218546
GO:0090331	Process	Negative regulation of platelet aggregation	IEA
GO:0090331	Process	Negative regulation of platelet aggregation	IEA

Other IDs

• MIM: 607512
• HGNC: 17110
• e!Ensembl: ENSG00000140873

Protein

• UniProt ID: Q8TE60
• Protein name: A disintegrin and metalloproteinase with thrombospondin motifs 18 (ADAM-TS 18) (ADAM-TS18) (ADAMTS-18) (EC 3.4.24.-)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	62 → 203	Reprolysin family propeptide	Family
  PF01421	Reprolysin	294 → 498	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF17771	ADAM_CR_2	511 → 578	ADAM cysteine-rich domain	Domain
  PF00090	TSP_1	593 → 643	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	749 → 861	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	935 → 991		Domain
  PF19030	TSP1_ADAMTS	995 → 1048		Domain
  PF19030	TSP1_ADAMTS	1056 → 1115		Domain
  PF19030	TSP1_ADAMTS	1127 → 1177		Domain
  PF08686	PLAC	1188 → 1218	PLAC (protease and lacunin) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fetal lung, liver, and kidney and in adult brain, prostate, submaxillary gland, and endothelium.
• Sequence:

  MECALLLACAFPAAGSGPPRGLAGLGRVAKALQLCCLCCASVAAALASDSSSGASGLNDD
  YVFVTPVEVDSAGSYISHDILHNGRKKRSAQNARSSLHYRFSAFGQELHLELKPSAILSS
  HFIVQVLGKDGASETQKPEVQQCFYQGFIRNDSSSSVAVSTCAGLSGLIRTRKNEFLISP
  LPQLLAQEHNYSSPAGHHPHVLYKRTAEEKIQRYRGYPGSGRNYPGYSPSHIPHASQSRE
  TEYHHRRLQKQHFCGRRKKYAPKPPTEDTYLRFDEYGSSGRPRRSAGKSQKGLNVETLVV
  ADKKMVEKHGKGNVTTYILTVMNMVSGLFKDGTIGSDINVVVVSLILLEQEPGGLLINHH
  ADQSLNSFCQWQSALIGKNGKRHDHAILLTGFDICSWKNEPCDTLGFAPISGMCSKYRSC
  TINEDTGLGLAFTIAHESGHNFGMIHDGEGNPCRKAEGNIMSPTLTGNNGVFSWSSCSRQ
  YLKKFLSTPQAGCLVDEPKQAGQYKYPDKLPGQIYDADTQCKWQFGAKAKLCSLGFVKDI
  CKSLWCHRVGHRCETKFMPAAEGTVCGLSMWCRQGQCVKFGELGPRPIHGQWSAWSKWSE
  CSRTCGGGVKFQERHCNNPKPQYGGLFCPGSSRIYQLCNINPCNENSLDFRAQQCAEYNS
  KPFRGWFYQWKPYTKVEEEDRCKLYCKAENFEFFFAMSGKVKDGTPCSPNKNDVCIDGVC
  ELVGCDHELGSKAVSDACGVCKGDNSTCKFYKGLYLNQHKANEYYPVVLIPAGARSIEIQ
  ELQVSSSYLAVRSLSQKYYLTGGWSIDWPGEFPFAGTTFEYQRSFNRPERLYAPGPTNET
  LVFEILMQGKNPGIAWKYALPKVMNGTPPATKRPAYTWSIVQSECSVSCGGGYINVKAIC
  LRDQNTQVNSSFCSAKTKPVTEPKICNAFSCPAYWMPGEWSTCSKACAGGQQSRKIQCVQ
  KKPFQKEEAVLHSLCPVSTPTQVQACNSHACPPQWSLGPWSQCSKTCGRGVRKRELLCKG
  SAAETLPESQCTSLPRPELQEGCVLGRCPKNSRLQWVASSWSECSATCGLGVRKREMKCS
  EKGFQGKLITFPERRCRNIKKPNLDLEETCNRRACPAHPVYNMVAGWYSLPWQQCTVTCG
  GGVQTRSVHCVQQGRPSSSCLLHQKPPVLRACNTNFCPAPEKREDPSCVDFFNWCHLVPQ
  HGVCNHKFYGKQCCKSCTRKI

• Sequence length: 1221

Pathways

Reactome:

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

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
ADAMTS18-related disorder	Likely pathogenic; Pathogenic	rs935159456, rs777218145	RCV003407874 RCV003402406	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs201570714	RCV005922459	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcornea-myopic chorioretinal atrophy	Likely pathogenic; Pathogenic	rs139516327, rs776870884, rs1011453043, rs397515467, rs397515468, rs397515469	RCV001785815 RCV003223421 RCV005439042 RCV000056279 RCV000056280 RCV000056281	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs139516327	RCV006270241	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Knobloch syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leber congenital amaurosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arteriosclerosis	Arteriosclerosis	BEFREE	29169989		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29169989		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28503860		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17546048, 28503860		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30417422		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25569086, 40649942	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29860265		★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid Artery Thrombosis	BEFREE	29421655		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29421655		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28362704		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	28362704		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28145888		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28145888		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28145888		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	24874986		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	24874986		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	25569086		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	23356391		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35789548	Associate	★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	29860265		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	24896365		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29169989		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35789548	Associate	★☆☆☆☆ Found in Text Mining only
Knobloch syndrome	Knobloch Syndrome	BEFREE	14695535, 21862674		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung Neoplasms	Lung Neoplasms	BEFREE	30417422		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28503860		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30417422		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19806480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19806480		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28503860, 28843853		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28362704		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28145888		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28503860		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21047771		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21047771, 33917086	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29169989		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29169989		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	BEFREE	23818446, 24874986		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	BEFREE	23818446		★☆☆☆☆ Found in Text Mining only
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	GENOMICS_ENGLAND_DG	23818446		★☆☆☆☆ Found in Text Mining only
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	ORPHANET_DG	23818446		★☆☆☆☆ Found in Text Mining only
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	UNIPROT_DG	23818446		★☆☆☆☆ Found in Text Mining only
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Orphanet			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	23818446		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	29346494	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	17546048	Inhibit	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19806480		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17546048, 18398821, 19458070, 19806480, 25569086, 28145888, 28503860, 30417422		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	27114598		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	23356391		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	36161854	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophy, Early Onset Severe	Retinal Dystrophy	BEFREE	23356391		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	24874986		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35874675	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	23818446		★☆☆☆☆ Found in Text Mining only