JAM3 (junctional adhesion molecule 3)

Gene

• Entrez ID: 83700
• Gene name: Junctional adhesion molecule 3
• Gene symbol: JAM3
• Synonyms (NCBI Gene): JAM-2, JAM-3, JAM-C, JAMC
• Chromosome: 11
• Chromosome location: 11q25
• Summary: Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514678	T>C,G	Pathogenic	Missense variant, initiator codon variant
rs397515438	G>A	Pathogenic	Missense variant, coding sequence variant
rs397515439	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs761700427	G>T	Pathogenic	Splice donor variant
rs774867496	A>C,G,T	Pathogenic	Initiator codon variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1076343	hsa-miR-320a	CLIP-seq
MIRT1076344	hsa-miR-320b	CLIP-seq
MIRT1076345	hsa-miR-320c	CLIP-seq
MIRT1076346	hsa-miR-320d	CLIP-seq
MIRT1076347	hsa-miR-320e	CLIP-seq
MIRT1076348	hsa-miR-4429	CLIP-seq
MIRT1076349	hsa-miR-4700-3p	CLIP-seq
MIRT1076350	hsa-miR-4768-5p	CLIP-seq
MIRT1076351	hsa-miR-5095	CLIP-seq
MIRT1076352	hsa-miR-515-5p	CLIP-seq
MIRT1076353	hsa-miR-942	CLIP-seq
MIRT2018977	hsa-miR-3134	CLIP-seq
MIRT2018978	hsa-miR-4471	CLIP-seq
MIRT2018979	hsa-miR-4534	CLIP-seq
MIRT2018980	hsa-miR-4639-5p	CLIP-seq
MIRT2018981	hsa-miR-4802-5p	CLIP-seq
MIRT2250833	hsa-miR-23a	CLIP-seq
MIRT2250834	hsa-miR-23b	CLIP-seq
MIRT2250835	hsa-miR-23c	CLIP-seq
MIRT2018977	hsa-miR-3134	CLIP-seq
MIRT2018978	hsa-miR-4471	CLIP-seq
MIRT2018979	hsa-miR-4534	CLIP-seq
MIRT2018980	hsa-miR-4639-5p	CLIP-seq
MIRT2018981	hsa-miR-4802-5p	CLIP-seq
MIRT2554295	hsa-miR-4448	CLIP-seq
MIRT2554296	hsa-miR-485-5p	CLIP-seq
MIRT2554297	hsa-miR-10a	CLIP-seq
MIRT2554298	hsa-miR-10b	CLIP-seq
MIRT2554299	hsa-miR-1200	CLIP-seq
MIRT2554300	hsa-miR-1207-5p	CLIP-seq
MIRT2554301	hsa-miR-122	CLIP-seq
MIRT2554302	hsa-miR-1236	CLIP-seq
MIRT2554303	hsa-miR-1237	CLIP-seq
MIRT2554304	hsa-miR-1248	CLIP-seq
MIRT2554305	hsa-miR-128	CLIP-seq
MIRT2554306	hsa-miR-1294	CLIP-seq
MIRT2554307	hsa-miR-146a	CLIP-seq
MIRT2554308	hsa-miR-146b-5p	CLIP-seq
MIRT2554309	hsa-miR-1910	CLIP-seq
MIRT2554310	hsa-miR-214	CLIP-seq
MIRT2554311	hsa-miR-2467-5p	CLIP-seq
MIRT2554312	hsa-miR-31	CLIP-seq
MIRT2554313	hsa-miR-3120-3p	CLIP-seq
MIRT2554314	hsa-miR-3135b	CLIP-seq
MIRT2554315	hsa-miR-3150a-3p	CLIP-seq
MIRT2554316	hsa-miR-3173-3p	CLIP-seq
MIRT2554317	hsa-miR-3174	CLIP-seq
MIRT2554318	hsa-miR-3175	CLIP-seq
MIRT2554319	hsa-miR-3177-3p	CLIP-seq
MIRT2554320	hsa-miR-3183	CLIP-seq
MIRT2554321	hsa-miR-3188	CLIP-seq
MIRT2554322	hsa-miR-323b-5p	CLIP-seq
MIRT2554323	hsa-miR-338-3p	CLIP-seq
MIRT2554324	hsa-miR-3607-5p	CLIP-seq
MIRT2554325	hsa-miR-3619-5p	CLIP-seq
MIRT2554326	hsa-miR-3620	CLIP-seq
MIRT2554327	hsa-miR-3652	CLIP-seq
MIRT2554328	hsa-miR-3667-3p	CLIP-seq
MIRT2554329	hsa-miR-3925-3p	CLIP-seq
MIRT2554330	hsa-miR-3929	CLIP-seq
MIRT2554331	hsa-miR-3975	CLIP-seq
MIRT2554332	hsa-miR-4251	CLIP-seq
MIRT2554333	hsa-miR-4253	CLIP-seq
MIRT2554334	hsa-miR-4268	CLIP-seq
MIRT2554335	hsa-miR-4269	CLIP-seq
MIRT2554336	hsa-miR-4291	CLIP-seq
MIRT2554337	hsa-miR-4316	CLIP-seq
MIRT2554338	hsa-miR-4324	CLIP-seq
MIRT2554339	hsa-miR-4326	CLIP-seq
MIRT2554340	hsa-miR-4419b	CLIP-seq
MIRT2554341	hsa-miR-4430	CLIP-seq
MIRT2554295	hsa-miR-4448	CLIP-seq
MIRT2554342	hsa-miR-4478	CLIP-seq
MIRT2554343	hsa-miR-4514	CLIP-seq
MIRT2554344	hsa-miR-4520a-3p	CLIP-seq
MIRT2554345	hsa-miR-4520b-3p	CLIP-seq
MIRT2554346	hsa-miR-4530	CLIP-seq
MIRT2554347	hsa-miR-455-3p	CLIP-seq
MIRT2554348	hsa-miR-4635	CLIP-seq
MIRT2554349	hsa-miR-4645-5p	CLIP-seq
MIRT2554350	hsa-miR-4660	CLIP-seq
MIRT2554351	hsa-miR-4673	CLIP-seq
MIRT2554352	hsa-miR-4684-5p	CLIP-seq
MIRT2554353	hsa-miR-4692	CLIP-seq
MIRT2554354	hsa-miR-4695-5p	CLIP-seq
MIRT2554355	hsa-miR-4723-3p	CLIP-seq
MIRT2554356	hsa-miR-4724-3p	CLIP-seq
MIRT2554357	hsa-miR-4742-5p	CLIP-seq
MIRT2554358	hsa-miR-4761-3p	CLIP-seq
MIRT2554359	hsa-miR-4761-5p	CLIP-seq
MIRT2554360	hsa-miR-4763-3p	CLIP-seq
MIRT2554296	hsa-miR-485-5p	CLIP-seq
MIRT2554361	hsa-miR-491-5p	CLIP-seq
MIRT2554362	hsa-miR-495	CLIP-seq
MIRT2554363	hsa-miR-499a-5p	CLIP-seq
MIRT2554364	hsa-miR-502-5p	CLIP-seq
MIRT1076352	hsa-miR-515-5p	CLIP-seq
MIRT2554365	hsa-miR-544b	CLIP-seq
MIRT2554366	hsa-miR-549	CLIP-seq
MIRT2554367	hsa-miR-589	CLIP-seq
MIRT2554368	hsa-miR-624	CLIP-seq
MIRT2554369	hsa-miR-642a	CLIP-seq
MIRT2554370	hsa-miR-646	CLIP-seq
MIRT2554371	hsa-miR-659	CLIP-seq
MIRT2554372	hsa-miR-761	CLIP-seq
MIRT2554373	hsa-miR-766	CLIP-seq
MIRT2554374	hsa-miR-921	CLIP-seq
MIRT2554375	hsa-miR-922	CLIP-seq
MIRT2554376	hsa-miR-939	CLIP-seq
MIRT2554297	hsa-miR-10a	CLIP-seq
MIRT2554298	hsa-miR-10b	CLIP-seq
MIRT2554299	hsa-miR-1200	CLIP-seq
MIRT2554300	hsa-miR-1207-5p	CLIP-seq
MIRT2554301	hsa-miR-122	CLIP-seq
MIRT2554302	hsa-miR-1236	CLIP-seq
MIRT2554303	hsa-miR-1237	CLIP-seq
MIRT2554304	hsa-miR-1248	CLIP-seq
MIRT2554305	hsa-miR-128	CLIP-seq
MIRT2554306	hsa-miR-1294	CLIP-seq
MIRT2554307	hsa-miR-146a	CLIP-seq
MIRT2554308	hsa-miR-146b-5p	CLIP-seq
MIRT2554309	hsa-miR-1910	CLIP-seq
MIRT2554310	hsa-miR-214	CLIP-seq
MIRT2554311	hsa-miR-2467-5p	CLIP-seq
MIRT2554312	hsa-miR-31	CLIP-seq
MIRT2554313	hsa-miR-3120-3p	CLIP-seq
MIRT2554314	hsa-miR-3135b	CLIP-seq
MIRT2554315	hsa-miR-3150a-3p	CLIP-seq
MIRT2554316	hsa-miR-3173-3p	CLIP-seq
MIRT2554317	hsa-miR-3174	CLIP-seq
MIRT2554318	hsa-miR-3175	CLIP-seq
MIRT2554319	hsa-miR-3177-3p	CLIP-seq
MIRT2554320	hsa-miR-3183	CLIP-seq
MIRT2554321	hsa-miR-3188	CLIP-seq
MIRT2554323	hsa-miR-338-3p	CLIP-seq
MIRT2554324	hsa-miR-3607-5p	CLIP-seq
MIRT2554325	hsa-miR-3619-5p	CLIP-seq
MIRT2554326	hsa-miR-3620	CLIP-seq
MIRT2554327	hsa-miR-3652	CLIP-seq
MIRT2554328	hsa-miR-3667-3p	CLIP-seq
MIRT2683102	hsa-miR-3688-5p	CLIP-seq
MIRT2554329	hsa-miR-3925-3p	CLIP-seq
MIRT2554330	hsa-miR-3929	CLIP-seq
MIRT2554331	hsa-miR-3975	CLIP-seq
MIRT2554332	hsa-miR-4251	CLIP-seq
MIRT2554333	hsa-miR-4253	CLIP-seq
MIRT2554334	hsa-miR-4268	CLIP-seq
MIRT2554335	hsa-miR-4269	CLIP-seq
MIRT2554336	hsa-miR-4291	CLIP-seq
MIRT2554337	hsa-miR-4316	CLIP-seq
MIRT2554338	hsa-miR-4324	CLIP-seq
MIRT2554339	hsa-miR-4326	CLIP-seq
MIRT2554340	hsa-miR-4419b	CLIP-seq
MIRT2554341	hsa-miR-4430	CLIP-seq
MIRT2554295	hsa-miR-4448	CLIP-seq
MIRT2554342	hsa-miR-4478	CLIP-seq
MIRT2554343	hsa-miR-4514	CLIP-seq
MIRT2554344	hsa-miR-4520a-3p	CLIP-seq
MIRT2554345	hsa-miR-4520b-3p	CLIP-seq
MIRT2554346	hsa-miR-4530	CLIP-seq
MIRT2554347	hsa-miR-455-3p	CLIP-seq
MIRT2554349	hsa-miR-4645-5p	CLIP-seq
MIRT2554350	hsa-miR-4660	CLIP-seq
MIRT2554351	hsa-miR-4673	CLIP-seq
MIRT2554352	hsa-miR-4684-5p	CLIP-seq
MIRT2554353	hsa-miR-4692	CLIP-seq
MIRT2554354	hsa-miR-4695-5p	CLIP-seq
MIRT2554355	hsa-miR-4723-3p	CLIP-seq
MIRT2554356	hsa-miR-4724-3p	CLIP-seq
MIRT2554357	hsa-miR-4742-5p	CLIP-seq
MIRT2554358	hsa-miR-4761-3p	CLIP-seq
MIRT2554359	hsa-miR-4761-5p	CLIP-seq
MIRT2554360	hsa-miR-4763-3p	CLIP-seq
MIRT2554296	hsa-miR-485-5p	CLIP-seq
MIRT2554361	hsa-miR-491-5p	CLIP-seq
MIRT2554362	hsa-miR-495	CLIP-seq
MIRT2554363	hsa-miR-499a-5p	CLIP-seq
MIRT2554364	hsa-miR-502-5p	CLIP-seq
MIRT1076352	hsa-miR-515-5p	CLIP-seq
MIRT2554365	hsa-miR-544b	CLIP-seq
MIRT2554366	hsa-miR-549	CLIP-seq
MIRT2554367	hsa-miR-589	CLIP-seq
MIRT2554368	hsa-miR-624	CLIP-seq
MIRT2554369	hsa-miR-642a	CLIP-seq
MIRT2554370	hsa-miR-646	CLIP-seq
MIRT2554372	hsa-miR-761	CLIP-seq
MIRT2554373	hsa-miR-766	CLIP-seq
MIRT2554374	hsa-miR-921	CLIP-seq
MIRT2554375	hsa-miR-922	CLIP-seq
MIRT2554376	hsa-miR-939	CLIP-seq
MIRT2554295	hsa-miR-4448	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IDA	20592283
GO:0001525	Process	Angiogenesis	IEA
GO:0001780	Process	Neutrophil homeostasis	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002318	Process	Myeloid progenitor cell differentiation	IEA
GO:0002523	Process	Leukocyte migration involved in inflammatory response	IEA
GO:0005178	Function	Integrin binding	IBA
GO:0005178	Function	Integrin binding	IEA
GO:0005178	Function	Integrin binding	IPI	12208882, 15194813, 19461049
GO:0005515	Function	Protein binding	IPI	11590146, 11823489, 19461049, 21982860, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	20592283
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11590146, 19461049
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005902	Component	Microvillus	IDA	19060272
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	IMP	19461049
GO:0005923	Component	Bicellular tight junction	IDA	28196865
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IEA
GO:0019226	Process	Transmission of nerve impulse	IEA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030057	Component	Desmosome	IDA	15194813
GO:0030057	Component	Desmosome	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031941	Component	Filamentous actin	IDA	19060272
GO:0033010	Component	Paranodal junction	IEA
GO:0033624	Process	Negative regulation of integrin activation	IMP	19461049
GO:0033629	Process	Negative regulation of cell adhesion mediated by integrin	IMP	19461049
GO:0034113	Process	Heterotypic cell-cell adhesion	IDA	12208882
GO:0034333	Process	Adherens junction assembly	IMP	19060272
GO:0034394	Process	Protein localization to cell surface	IMP	19060272
GO:0035633	Process	Maintenance of blood-brain barrier	NAS	30280653
GO:0042552	Process	Myelination	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043220	Component	Schmidt-Lanterman incisure	IEA
GO:0044291	Component	Cell-cell contact zone	IBA
GO:0044291	Component	Cell-cell contact zone	IDA	15994945
GO:0045176	Process	Apical protein localization	IMP	19060272
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048731	Process	System development	IEA
GO:0050900	Process	Leukocyte migration	IEA
GO:0070160	Component	Tight junction	IDA	19060272
GO:0070161	Component	Anchoring junction	IEA
GO:0090022	Process	Regulation of neutrophil chemotaxis	IDA	15194813
GO:0090138	Process	Regulation of actin cytoskeleton organization by cell-cell adhesion	IEA
GO:0097241	Process	Hematopoietic stem cell migration to bone marrow	IEA
GO:0097241	Process	Hematopoietic stem cell migration to bone marrow	IMP	24357068
GO:0097530	Process	Granulocyte migration	IMP	19060272
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IDA	11823489, 19740376
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IMP	24357068
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA
GO:0098632	Function	Cell-cell adhesion mediator activity	IDA	11823489, 19740376
GO:0098636	Component	Protein complex involved in cell adhesion	IBA
GO:0098636	Component	Protein complex involved in cell adhesion	IDA	11590146
GO:1902414	Process	Protein localization to cell junction	IMP	19060272
GO:1905710	Process	Positive regulation of membrane permeability	IMP	31926946
GO:2000439	Process	Positive regulation of monocyte extravasation	IMP	31926946

Other IDs

• MIM: 606871
• HGNC: 15532
• e!Ensembl: ENSG00000166086

Protein

• UniProt ID: Q9BX67
• Protein name: Junctional adhesion molecule C (JAM-C) (JAM-2) (Junctional adhesion molecule 3) (JAM-3) [Cleaved into: Soluble form of JAM-C (sJAM-C)]
• Protein function: Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM2 to regulate different cellular processes (PubMed:11590146, PubMed:11823489). Plays a role in homing and mobilization of hematopoietic ste
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07686	V-set	36 → 136	Immunoglobulin V-set domain	Domain
  PF13927	Ig_3	138 → 223		Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected on round and elongated spermatids (at protein level) (PubMed:15372036). Highest expression in placenta, brain and kidney. Significant expression is detected on platelets. Expressed in intestinal mucosa cells. Expressed in the
• Sequence:

  MALRRPPRLRLCARLPDFFLLLLFRGCLIGAVNLKSSNRTPVVQEFESVELSCIITDSQT
  SDPRIEWKKIQDEQTTYVFFDNKIQGDLAGRAEILGKTSLKIWNVTRRDSALYRCEVVAR
  NDRKEIDEIVIELTVQVKPVTPVCRVPKAVPVGKMATLHCQESEGHPRPHYSWYRNDVPL
  PTDSRANPRFRNSSFHLNSETGTLVFTAVHKDDSGQYYCIASNDAGSARCEEQEMEVYDL
  NIGGIIGGVLVVLAVLALITLGICCAYRRGYFINNKQDGESYKNPGKPDGVNYIRTDEEG
  DFRHKSSFVI

• Sequence length: 310

Pathways

KEGG:

Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Epithelial cell signaling in Helicobacter pylori infection

Reactome:

Cell surface interactions at the vascular wall
Integrin cell surface interactions

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
Porencephaly-microcephaly-bilateral congenital cataract syndrome	Pathogenic; Likely pathogenic	rs763250381, rs2497297743, rs2497284984, rs761700427, rs397515438, rs397515439, rs397514678, rs774867496, rs1942959311, rs2120862502, rs141004644	RCV003326600 RCV003485933 RCV003445353 RCV000023581 RCV000034812 RCV000034813 RCV000034814 RCV001027669 RCV002284968 RCV001197760 RCV001528155 RCV001528156	★★★★★ 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
ATRIAL FIBRILLATION	—	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
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JAM3-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	21109224	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	17612407		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	LHGDN	17612407		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18821692	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	16195363		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27573188	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	36653368	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	27164683	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	29753567		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	17429428		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30146936	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	23255084	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23825230		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	21109224, 23255084, 34292449	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29575013		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29575013		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38124399	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30988641		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	21109224, 23255084		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	19533782		★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	27164683		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17612407		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	34292449	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29753567		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19795504		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS	Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	UNIPROT_DG	21109224, 23255084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS	Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	ORPHANET_DG	21109224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS	Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	GENOMICS_ENGLAND_DG	23255084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS	Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS	Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	BEFREE	11944976		★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	LHGDN	11944976		★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	21109224	Associate	★☆☆☆☆ Found in Text Mining only
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	19533782, 22887642		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28192890		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28972073		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28972073, 29584620		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28196865	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	24584816		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23825230		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28196865, 28972073, 29378216, 30226554		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29575013		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	35818586	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	27164683	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18658134, 23825230, 24584816, 26517242, 30988641		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24584816, 30416798		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	27692602		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	18821692	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23825230		★☆☆☆☆ Found in Text Mining only
Porencephaly-microcephaly-bilateral congenital cataract syndrome	Porencephaly-Microcephaly-Bilateral Congenital Cataract Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	29753567		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29753567		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	27164683	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	30226554		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30226554		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26311310		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	26311310		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17612407		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18821692		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30088666		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	36990421	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30146936	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	26517242	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	26517242, 32576279	Associate	★☆☆☆☆ Found in Text Mining only