SEMA4D (semaphorin 4D)

Gene

• Entrez ID: 10507
• Gene name: Semaphorin 4D
• Gene symbol: SEMA4D
• Synonyms (NCBI Gene): A8, BB18, C9orf164, CD100, COLL4, GR3, M-sema-G, SEMAJ, coll-4
• Chromosome: 9
• Chromosome location: 9q22.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004149	hsa-miR-192-5p	Microarray	16822819
MIRT017224	hsa-miR-335-5p	Microarray	18185580
MIRT024017	hsa-miR-1-3p	Microarray	18668037
MIRT024391	hsa-miR-215-5p	Microarray	19074876
MIRT004149	hsa-miR-192-5p	Microarray	19074876
MIRT050315	hsa-miR-25-3p	CLASH	23622248
MIRT042320	hsa-miR-484	CLASH	23622248
MIRT699785	hsa-miR-548ac	HITS-CLIP	23313552
MIRT699784	hsa-miR-548bb-3p	HITS-CLIP	23313552
MIRT699783	hsa-miR-548d-3p	HITS-CLIP	23313552
MIRT699782	hsa-miR-548h-3p	HITS-CLIP	23313552
MIRT699781	hsa-miR-548z	HITS-CLIP	23313552
MIRT699780	hsa-miR-548ae-3p	HITS-CLIP	23313552
MIRT699779	hsa-miR-548ah-3p	HITS-CLIP	23313552
MIRT699778	hsa-miR-548aj-3p	HITS-CLIP	23313552
MIRT699777	hsa-miR-548am-3p	HITS-CLIP	23313552
MIRT699776	hsa-miR-548aq-3p	HITS-CLIP	23313552
MIRT699775	hsa-miR-548j-3p	HITS-CLIP	23313552
MIRT699774	hsa-miR-548x-3p	HITS-CLIP	23313552
MIRT699773	hsa-miR-7849-3p	HITS-CLIP	23313552
MIRT699772	hsa-miR-300	HITS-CLIP	23313552
MIRT699771	hsa-miR-381-3p	HITS-CLIP	23313552
MIRT699770	hsa-miR-4666a-3p	HITS-CLIP	23313552
MIRT699769	hsa-miR-3973	HITS-CLIP	23313552
MIRT699768	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT699767	hsa-miR-520h	HITS-CLIP	23313552
MIRT699766	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT699765	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT699764	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT699763	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT699762	hsa-miR-1225-5p	HITS-CLIP	23313552
MIRT526610	hsa-miR-3662	PAR-CLIP	22012620
MIRT526609	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT512536	hsa-miR-5088-5p	PAR-CLIP	23446348
MIRT512535	hsa-miR-4301	PAR-CLIP	23446348
MIRT512534	hsa-miR-4286	PAR-CLIP	23446348
MIRT512533	hsa-miR-361-3p	PAR-CLIP	23446348
MIRT512532	hsa-miR-5681a	PAR-CLIP	23446348
MIRT512531	hsa-miR-3679-3p	PAR-CLIP	23446348
MIRT439682	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439682	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT735709	sja-miR-71a	Luciferase reporter assay, Western blotting, qRT-PCR	32944173
MIRT699785	hsa-miR-548ac	HITS-CLIP	23313552
MIRT699784	hsa-miR-548bb-3p	HITS-CLIP	23313552
MIRT699783	hsa-miR-548d-3p	HITS-CLIP	23313552
MIRT699782	hsa-miR-548h-3p	HITS-CLIP	23313552
MIRT699781	hsa-miR-548z	HITS-CLIP	23313552
MIRT699780	hsa-miR-548ae-3p	HITS-CLIP	23313552
MIRT699779	hsa-miR-548ah-3p	HITS-CLIP	23313552
MIRT699778	hsa-miR-548aj-3p	HITS-CLIP	23313552
MIRT699777	hsa-miR-548am-3p	HITS-CLIP	23313552
MIRT699776	hsa-miR-548aq-3p	HITS-CLIP	23313552
MIRT699775	hsa-miR-548j-3p	HITS-CLIP	23313552
MIRT699774	hsa-miR-548x-3p	HITS-CLIP	23313552
MIRT699773	hsa-miR-7849-3p	HITS-CLIP	23313552
MIRT699772	hsa-miR-300	HITS-CLIP	23313552
MIRT699771	hsa-miR-381-3p	HITS-CLIP	23313552
MIRT699770	hsa-miR-4666a-3p	HITS-CLIP	23313552
MIRT699769	hsa-miR-3973	HITS-CLIP	23313552
MIRT699768	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT699767	hsa-miR-520h	HITS-CLIP	23313552
MIRT699766	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT699765	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT699764	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT699763	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT699762	hsa-miR-1225-5p	HITS-CLIP	23313552
MIRT526610	hsa-miR-3662	PAR-CLIP	22012620
MIRT526609	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT512536	hsa-miR-5088-5p	PAR-CLIP	23446348
MIRT512535	hsa-miR-4301	PAR-CLIP	23446348
MIRT512534	hsa-miR-4286	PAR-CLIP	23446348
MIRT512533	hsa-miR-361-3p	PAR-CLIP	23446348
MIRT512532	hsa-miR-5681a	PAR-CLIP	23446348
MIRT512531	hsa-miR-3679-3p	PAR-CLIP	23446348
MIRT1335178	hsa-miR-128	CLIP-seq
MIRT1335179	hsa-miR-140-3p	CLIP-seq
MIRT1335180	hsa-miR-3134	CLIP-seq
MIRT1335181	hsa-miR-3160-3p	CLIP-seq
MIRT1335182	hsa-miR-3201	CLIP-seq
MIRT1335183	hsa-miR-4487	CLIP-seq
MIRT1335184	hsa-miR-451b	CLIP-seq
MIRT1335185	hsa-miR-4534	CLIP-seq
MIRT1335186	hsa-miR-4791	CLIP-seq
MIRT1335187	hsa-miR-548b-3p	CLIP-seq
MIRT1335188	hsa-miR-558	CLIP-seq
MIRT1335189	hsa-miR-122	CLIP-seq
MIRT1335190	hsa-miR-125a-5p	CLIP-seq
MIRT1335191	hsa-miR-125b	CLIP-seq
MIRT1335192	hsa-miR-137	CLIP-seq
MIRT1335193	hsa-miR-186	CLIP-seq
MIRT1335194	hsa-miR-188-5p	CLIP-seq
MIRT1335195	hsa-miR-197	CLIP-seq
MIRT1335196	hsa-miR-224	CLIP-seq
MIRT1335197	hsa-miR-3121-3p	CLIP-seq
MIRT1335198	hsa-miR-3155	CLIP-seq
MIRT1335199	hsa-miR-3155b	CLIP-seq
MIRT739061	hsa-miR-326	CLIP-seq
MIRT739060	hsa-miR-330-5p	CLIP-seq
MIRT1335200	hsa-miR-3618	CLIP-seq
MIRT1335201	hsa-miR-3659	CLIP-seq
MIRT1335202	hsa-miR-3688-3p	CLIP-seq
MIRT1335203	hsa-miR-3691-3p	CLIP-seq
MIRT1335204	hsa-miR-3939	CLIP-seq
MIRT1335205	hsa-miR-412	CLIP-seq
MIRT1335206	hsa-miR-4251	CLIP-seq
MIRT1335207	hsa-miR-4257	CLIP-seq
MIRT1335208	hsa-miR-4263	CLIP-seq
MIRT1335209	hsa-miR-4311	CLIP-seq
MIRT1335210	hsa-miR-4319	CLIP-seq
MIRT1335211	hsa-miR-4324	CLIP-seq
MIRT1335212	hsa-miR-4432	CLIP-seq
MIRT1335213	hsa-miR-4438	CLIP-seq
MIRT1335214	hsa-miR-4503	CLIP-seq
MIRT1335215	hsa-miR-4691-3p	CLIP-seq
MIRT1335216	hsa-miR-4732-3p	CLIP-seq
MIRT1335217	hsa-miR-4766-3p	CLIP-seq
MIRT1335218	hsa-miR-499-5p	CLIP-seq
MIRT1335219	hsa-miR-513a-5p	CLIP-seq
MIRT1335220	hsa-miR-520a-5p	CLIP-seq
MIRT1335221	hsa-miR-525-5p	CLIP-seq
MIRT1335222	hsa-miR-548p	CLIP-seq
MIRT1335223	hsa-miR-576-5p	CLIP-seq
MIRT1335224	hsa-miR-580	CLIP-seq
MIRT1335225	hsa-miR-586	CLIP-seq
MIRT1335226	hsa-miR-616	CLIP-seq
MIRT1335227	hsa-miR-654-3p	CLIP-seq
MIRT1335228	hsa-miR-670	CLIP-seq
MIRT1335229	hsa-miR-934	CLIP-seq
MIRT739061	hsa-miR-326	CLIP-seq
MIRT739060	hsa-miR-330-5p	CLIP-seq
MIRT2099118	hsa-miR-1226	CLIP-seq
MIRT2099119	hsa-miR-1273f	CLIP-seq
MIRT1335195	hsa-miR-197	CLIP-seq
MIRT2099120	hsa-miR-3148	CLIP-seq
MIRT2099121	hsa-miR-3175	CLIP-seq
MIRT1335202	hsa-miR-3688-3p	CLIP-seq
MIRT1335205	hsa-miR-412	CLIP-seq
MIRT2099122	hsa-miR-4706	CLIP-seq
MIRT2099123	hsa-miR-4749-5p	CLIP-seq
MIRT2099124	hsa-miR-4781-5p	CLIP-seq
MIRT2099125	hsa-miR-542-5p	CLIP-seq
MIRT1335222	hsa-miR-548p	CLIP-seq
MIRT2323869	hsa-miR-1207-5p	CLIP-seq
MIRT1335189	hsa-miR-122	CLIP-seq
MIRT2323870	hsa-miR-1236	CLIP-seq
MIRT1335190	hsa-miR-125a-5p	CLIP-seq
MIRT1335191	hsa-miR-125b	CLIP-seq
MIRT2099119	hsa-miR-1273f	CLIP-seq
MIRT1335194	hsa-miR-188-5p	CLIP-seq
MIRT2099121	hsa-miR-3175	CLIP-seq
MIRT1335206	hsa-miR-4251	CLIP-seq
MIRT1335210	hsa-miR-4319	CLIP-seq
MIRT1335211	hsa-miR-4324	CLIP-seq
MIRT1335214	hsa-miR-4503	CLIP-seq
MIRT1335185	hsa-miR-4534	CLIP-seq
MIRT2323871	hsa-miR-4699-3p	CLIP-seq
MIRT2099122	hsa-miR-4706	CLIP-seq
MIRT1335216	hsa-miR-4732-3p	CLIP-seq
MIRT2323872	hsa-miR-4736	CLIP-seq
MIRT2099123	hsa-miR-4749-5p	CLIP-seq
MIRT2323873	hsa-miR-4763-3p	CLIP-seq
MIRT2099124	hsa-miR-4781-5p	CLIP-seq
MIRT2323874	hsa-miR-520d-5p	CLIP-seq
MIRT2323875	hsa-miR-524-5p	CLIP-seq
MIRT2323876	hsa-miR-574-5p	CLIP-seq
MIRT1335224	hsa-miR-580	CLIP-seq
MIRT1335228	hsa-miR-670	CLIP-seq
MIRT2323877	hsa-miR-873	CLIP-seq
MIRT2394202	hsa-miR-3910	CLIP-seq
MIRT2394203	hsa-miR-4708-3p	CLIP-seq
MIRT2394204	hsa-miR-4716-5p	CLIP-seq
MIRT2394205	hsa-miR-587	CLIP-seq
MIRT2619743	hsa-miR-1285	CLIP-seq
MIRT2619744	hsa-miR-149	CLIP-seq
MIRT2619745	hsa-miR-3187-5p	CLIP-seq
MIRT2619746	hsa-miR-3194-5p	CLIP-seq
MIRT739061	hsa-miR-326	CLIP-seq
MIRT739060	hsa-miR-330-5p	CLIP-seq
MIRT2619747	hsa-miR-378g	CLIP-seq
MIRT2619748	hsa-miR-4265	CLIP-seq
MIRT2619749	hsa-miR-4296	CLIP-seq
MIRT2619750	hsa-miR-4322	CLIP-seq
MIRT2619751	hsa-miR-4417	CLIP-seq
MIRT2619752	hsa-miR-4437	CLIP-seq
MIRT2619753	hsa-miR-4486	CLIP-seq
MIRT2619754	hsa-miR-4640-5p	CLIP-seq
MIRT2619755	hsa-miR-4674	CLIP-seq
MIRT2619756	hsa-miR-4726-5p	CLIP-seq
MIRT2619757	hsa-miR-508-3p	CLIP-seq
MIRT2619758	hsa-miR-612	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	22019888
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0001755	Process	Neural crest cell migration	IBA
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	16055703
GO:0002116	Component	Semaphorin receptor complex	IEA
GO:0002116	Component	Semaphorin receptor complex	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IMP	20877282
GO:0005102	Function	Signaling receptor binding	IDA	11254688, 20877282
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	20877282
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005813	Component	Centrosome	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8876214
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	TAS	8876214
GO:0007155	Process	Cell adhesion	TAS	8876214
GO:0007162	Process	Negative regulation of cell adhesion	IDA	15218527
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0008360	Process	Regulation of cell shape	IMP	20877282
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030215	Function	Semaphorin receptor binding	IBA
GO:0030215	Function	Semaphorin receptor binding	IEA
GO:0030215	Function	Semaphorin receptor binding	IPI	15218527
GO:0030215	Function	Semaphorin receptor binding	ISS
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0030335	Process	Positive regulation of cell migration	IDA	16055703
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030335	Process	Positive regulation of cell migration	ISS
GO:0031344	Process	Regulation of cell projection organization	IMP	20877282
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IEA
GO:0035025	Process	Positive regulation of Rho protein signal transduction	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0038023	Function	Signaling receptor activity	IDA	15613544
GO:0038191	Function	Neuropilin binding	IBA
GO:0042802	Function	Identical protein binding	IPI	20877282
GO:0043066	Process	Negative regulation of apoptotic process	TAS	8876214
GO:0043547	Process	Positive regulation of GTPase activity	IMP	19788569
GO:0043931	Process	Ossification involved in bone maturation	IEA
GO:0043931	Process	Ossification involved in bone maturation	IMP	22019888
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045499	Function	Chemorepellent activity	IBA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	ISS
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048018	Function	Receptor ligand activity	ISS
GO:0048672	Process	Positive regulation of collateral sprouting	IMP	19788569
GO:0048814	Process	Regulation of dendrite morphogenesis	IMP	19788569
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050919	Process	Negative chemotaxis	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	16055703
GO:0051963	Process	Regulation of synapse assembly	IEA
GO:0061430	Process	Bone trabecula morphogenesis	IEA
GO:0061430	Process	Bone trabecula morphogenesis	ISS
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070486	Process	Leukocyte aggregation	IMP	8876214
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IDA	15218527
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IMP	19788569, 20877282, 22019888
GO:0071526	Process	Semaphorin-plexin signaling pathway	ISS
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA
GO:1905704	Process	Positive regulation of inhibitory synapse assembly	IEA
GO:1905704	Process	Positive regulation of inhibitory synapse assembly	ISS

Other IDs

• MIM: 601866
• HGNC: 10732
• e!Ensembl: ENSG00000187764

Protein

• UniProt ID: Q92854
• Protein name: Semaphorin-4D (A8) (BB18) (GR3) (CD antigen CD100)
• Protein function: Cell surface receptor for PLXNB1 and PLXNB2 that plays an important role in cell-cell signaling (PubMed:20877282). Regulates GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent man
• PDB: 1OLZ, 3OL2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01403	Sema	52 → 480	Sema domain	Family
  PF01437	PSI	502 → 554	Plexin repeat	Family
  PF00047	ig	561 → 639	Immunoglobulin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Strongly expressed in skeletal muscle, peripheral blood lymphocytes, spleen, and thymus and also expressed at lower levels in testes, brain, kidney, small intestine, prostate, heart, placenta, lung and pancreas, but not in colon and li
• Sequence:

  MRMCTPIRGLLMALAVMFGTAMAFAPIPRITWEHREVHLVQFHEPDIYNYSALLLSEDKD
  TLYIGAREAVFAVNALNISEKQHEVYWKVSEDKKAKCAEKGKSKQTECLNYIRVLQPLSA
  TSLYVCGTNAFQPACDHLNLTSFKFLGKNEDGKGRCPFDPAHSYTSVMVDGELYSGTSYN
  FLGSEPIISRNSSHSPLRTEYAIPWLNEPSFVFADVIRKSPDSPDGEDDRVYFFFTEVSV
  EYEFVFRVLIPRIARVCKGDQGGLRTLQKKWTSFLKARLICSRPDSGLVFNVLRDVFVLR
  SPGLKVPVFYALFTPQLNNVGLSAVCAYNLSTAEEVFSHGKYMQSTTVEQSHTKWVRYNG
  PVPKPRPGACIDSEARAANYTSSLNLPDKTLQFVKDHPLMDDSVTPIDNRPRLIKKDVNY
  TQIVVDRTQALDGTVYDVMFVSTDRGALHKAISLEHAVHIIEETQLFQDFEPVQTLLLSS
  KKGNRFVYAGSNSGVVQAPLAFCGKHGTCEDCVLARDPYCAWSPPTATCVALHQTESPSR
  GLIQEMSGDASVCPDKSKGSYRQHFFKHGGTAELKCSQKSNLARVFWKFQNGVLKAESPK
  YGLMGRKNLLIFNLSEGDSGVYQCLSEERVKNKTVFQVVAKHVLEVKVVPKPVVAPTLSV
  VQTEGSRIATKVLVASTQGSSPPTPAVQATSSGAITLPPKPAPTGTSCEPKIVINTVPQL
  HSEKTMYLKSSDNRLLMSLFLFFFVLFLCLFFYNCYKGYLPRQCLKFRSALLIGKKKPKS
  DFCDREQSLKETLVEPGSFSQQNGEHPKPALDTGYETEQDTITSKVPTDREDSQRIDDLS
  ARDKPFDVKCELKFADSDADGD

• Sequence length: 862

Pathways

KEGG:

Axon guidance

Reactome:

Sema4D mediated inhibition of cell attachment and migration
Sema4D induced cell migration and growth-cone collapse
Other semaphorin 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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Anti-SEMA4D Monoclonal Antibody VX15/2503	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPOTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMA4D-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	21812859		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	31035427	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26275342		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	25707877		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30538782	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	23911404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	26275342		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	26417899	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30529763	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21244334		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	21244334, 33013906	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	21925246		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30674231		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	28656278		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26035216, 26910109, 30762724, 31011525		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	29054606		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34854398	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16754882, 19762474		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30674231		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30617444		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23202951, 24289594, 29308068, 31105696	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21812859	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33974462	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24289594, 26718213, 28225892, 29308068		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33381571	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31708102		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29242274		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	24603190		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	24603190		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30967271		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12406905, 16621959		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39596507	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25316231, 30562683		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25717256, 27456345, 34337054, 35730423	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	30967271		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	23335257		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23741311, 29524314, 30921442		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	21244334		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23741311		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23741311		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29308068		★☆☆☆☆ Found in Text Mining only
Erdheim-Chester Disease	Erdheim-Chester Disease	BEFREE	28182116		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31651222	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	31845691		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24114199, 29541402		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	24114199	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	28760660	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23741311, 29524314, 30921442		★☆☆☆☆ Found in Text Mining only
Hemorrhagic Fever with Renal Syndrome	Hemorrhagic fever with renal syndrome	Pubtator	26378166	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	26417899	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	35941373	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	30098700	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	28917721		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	22111667		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	33649851, 35401878	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	33649851, 35401878	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	30514791		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21812859, 23202951	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	25316231		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25717256, 27456345, 29434448	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29541402		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21925246, 26035216, 26910109, 30762724, 31011525		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30617444		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	30514791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24289594, 26718213, 28225892, 29308068		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21812859, 31615809		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30674231		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16754882, 19762474, 21812859, 24114199, 24603190, 26910109, 28038319, 28656278, 29308068, 29971044, 30562683, 30674231, 30762724, 30854096, 31615809		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24603190		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25316231, 30562683		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21925246		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22189792		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	22189792, 33974462, 34659201	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miscarriage	Miscarriage	BEFREE	22606231		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	33381571	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29748532		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	33593275	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	17520683	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18559453, 19762474, 21812859, 21925246, 22028792, 24114199, 24289594, 24603190, 25316231, 26035216, 27787869, 29377567, 29434448, 29541402, 29939944, 30374974, 30514791, 30981760, 31011525, 31601552, 31615809, 31651222		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29971044		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30374974		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28296344		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28296344	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28296344	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	31011525		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	22019888		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	22019888		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25961939		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	34854398	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24289594, 26718213, 28225892, 29308068		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24289594	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26718213, 28225892, 39972314	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21812859, 31615809		★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	31239269		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21812859	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	26138525		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31025704		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29435713		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29435713		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28927892		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25707877, 30538782		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	17520683	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	21244334	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	33013906	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	16754882		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31651222		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16754882, 26740106, 33776991	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	38006346	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16754882, 19762474, 28656278, 29541402, 30981760		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29434448		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29434448	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	21244334		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	8575280		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33974462	Associate	★☆☆☆☆ Found in Text Mining only