SEMA3A (semaphorin 3A)

Gene

• Entrez ID: 10371
• Gene name: Semaphorin 3A
• Gene symbol: SEMA3A
• Synonyms (NCBI Gene): COLL1, HH16, Hsema-I, Hsema-III, SEMA1, SEMAD, SEMAIII, SEMAL, SemD, coll-1
• Chromosome: 7
• Chromosome location: 7q21.11
• Summary: This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138952094	G>A	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs147436181	C>T	Not-provided, risk-factor, benign	Coding sequence variant, missense variant
rs1064793265	G>A	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1334604	hsa-miR-141	CLIP-seq
MIRT1334605	hsa-miR-15a	CLIP-seq
MIRT1334606	hsa-miR-15b	CLIP-seq
MIRT1334607	hsa-miR-16	CLIP-seq
MIRT1334608	hsa-miR-186	CLIP-seq
MIRT1334609	hsa-miR-195	CLIP-seq
MIRT1334610	hsa-miR-200a	CLIP-seq
MIRT1334611	hsa-miR-3120-3p	CLIP-seq
MIRT1334612	hsa-miR-3133	CLIP-seq
MIRT1334613	hsa-miR-3154	CLIP-seq
MIRT1334614	hsa-miR-3179	CLIP-seq
MIRT1334615	hsa-miR-3682-3p	CLIP-seq
MIRT1334616	hsa-miR-3689d	CLIP-seq
MIRT1334617	hsa-miR-3921	CLIP-seq
MIRT1334618	hsa-miR-424	CLIP-seq
MIRT1334619	hsa-miR-4502	CLIP-seq
MIRT1334620	hsa-miR-4653-5p	CLIP-seq
MIRT1334621	hsa-miR-494	CLIP-seq
MIRT1334622	hsa-miR-497	CLIP-seq
MIRT2098977	hsa-miR-1266	CLIP-seq
MIRT2098978	hsa-miR-145	CLIP-seq
MIRT1334605	hsa-miR-15a	CLIP-seq
MIRT1334606	hsa-miR-15b	CLIP-seq
MIRT1334607	hsa-miR-16	CLIP-seq
MIRT1334609	hsa-miR-195	CLIP-seq
MIRT2098979	hsa-miR-3664-3p	CLIP-seq
MIRT1334618	hsa-miR-424	CLIP-seq
MIRT2098980	hsa-miR-4269	CLIP-seq
MIRT2098981	hsa-miR-4514	CLIP-seq
MIRT2098982	hsa-miR-4518	CLIP-seq
MIRT2098983	hsa-miR-4692	CLIP-seq
MIRT2098984	hsa-miR-4742-5p	CLIP-seq
MIRT1334622	hsa-miR-497	CLIP-seq
MIRT2323814	hsa-miR-203	CLIP-seq
MIRT2394200	hsa-miR-3171	CLIP-seq
MIRT2442610	hsa-miR-3658	CLIP-seq
MIRT2442611	hsa-miR-485-3p	CLIP-seq
MIRT2619604	hsa-miR-106a	CLIP-seq
MIRT2619605	hsa-miR-106b	CLIP-seq
MIRT2619606	hsa-miR-1183	CLIP-seq
MIRT2619607	hsa-miR-1207-3p	CLIP-seq
MIRT2619608	hsa-miR-1208	CLIP-seq
MIRT2619609	hsa-miR-1258	CLIP-seq
MIRT2619610	hsa-miR-1264	CLIP-seq
MIRT2098977	hsa-miR-1266	CLIP-seq
MIRT2619611	hsa-miR-129-5p	CLIP-seq
MIRT2619612	hsa-miR-132	CLIP-seq
MIRT1334604	hsa-miR-141	CLIP-seq
MIRT2619613	hsa-miR-144	CLIP-seq
MIRT2619614	hsa-miR-17	CLIP-seq
MIRT1334608	hsa-miR-186	CLIP-seq
MIRT2619615	hsa-miR-1909	CLIP-seq
MIRT2619616	hsa-miR-192	CLIP-seq
MIRT1334610	hsa-miR-200a	CLIP-seq
MIRT2619617	hsa-miR-208a	CLIP-seq
MIRT2619618	hsa-miR-208b	CLIP-seq
MIRT2619619	hsa-miR-20a	CLIP-seq
MIRT2619620	hsa-miR-20b	CLIP-seq
MIRT2619621	hsa-miR-2115	CLIP-seq
MIRT2619622	hsa-miR-2116	CLIP-seq
MIRT2619623	hsa-miR-2117	CLIP-seq
MIRT2619624	hsa-miR-212	CLIP-seq
MIRT2619625	hsa-miR-215	CLIP-seq
MIRT2619626	hsa-miR-216a	CLIP-seq
MIRT2619627	hsa-miR-2681	CLIP-seq
MIRT2619628	hsa-miR-3143	CLIP-seq
MIRT2619629	hsa-miR-3148	CLIP-seq
MIRT2619630	hsa-miR-3152-5p	CLIP-seq
MIRT2619631	hsa-miR-3194-3p	CLIP-seq
MIRT2619632	hsa-miR-323-5p	CLIP-seq
MIRT2619633	hsa-miR-3529	CLIP-seq
MIRT2619634	hsa-miR-3609	CLIP-seq
MIRT2619635	hsa-miR-3617	CLIP-seq
MIRT2619636	hsa-miR-3622a-3p	CLIP-seq
MIRT2619637	hsa-miR-3622b-3p	CLIP-seq
MIRT2619638	hsa-miR-3646	CLIP-seq
MIRT2619639	hsa-miR-3647-3p	CLIP-seq
MIRT2098979	hsa-miR-3664-3p	CLIP-seq
MIRT2619640	hsa-miR-3671	CLIP-seq
MIRT2619641	hsa-miR-371-5p	CLIP-seq
MIRT2619642	hsa-miR-371b-5p	CLIP-seq
MIRT2619643	hsa-miR-375	CLIP-seq
MIRT2619644	hsa-miR-379	CLIP-seq
MIRT2619645	hsa-miR-3977	CLIP-seq
MIRT2619646	hsa-miR-3978	CLIP-seq
MIRT2619647	hsa-miR-409-3p	CLIP-seq
MIRT2619648	hsa-miR-4261	CLIP-seq
MIRT2098980	hsa-miR-4269	CLIP-seq
MIRT2619649	hsa-miR-4273	CLIP-seq
MIRT2619650	hsa-miR-4420	CLIP-seq
MIRT2619651	hsa-miR-4424	CLIP-seq
MIRT2619652	hsa-miR-4427	CLIP-seq
MIRT2619653	hsa-miR-4451	CLIP-seq
MIRT2619654	hsa-miR-4474-5p	CLIP-seq
MIRT2619655	hsa-miR-4477a	CLIP-seq
MIRT2619656	hsa-miR-4495	CLIP-seq
MIRT2619657	hsa-miR-4496	CLIP-seq
MIRT2098981	hsa-miR-4514	CLIP-seq
MIRT2098982	hsa-miR-4518	CLIP-seq
MIRT2619658	hsa-miR-4649-3p	CLIP-seq
MIRT2619659	hsa-miR-4650-3p	CLIP-seq
MIRT2619660	hsa-miR-4663	CLIP-seq
MIRT2619661	hsa-miR-4677-3p	CLIP-seq
MIRT2619662	hsa-miR-4677-5p	CLIP-seq
MIRT2619663	hsa-miR-4679	CLIP-seq
MIRT2619664	hsa-miR-4680-3p	CLIP-seq
MIRT2619665	hsa-miR-4682	CLIP-seq
MIRT2098983	hsa-miR-4692	CLIP-seq
MIRT2619666	hsa-miR-4695-3p	CLIP-seq
MIRT2619667	hsa-miR-4728-3p	CLIP-seq
MIRT2098984	hsa-miR-4742-5p	CLIP-seq
MIRT2619668	hsa-miR-4760-5p	CLIP-seq
MIRT2619669	hsa-miR-4774-3p	CLIP-seq
MIRT2619670	hsa-miR-4796-3p	CLIP-seq
MIRT2619671	hsa-miR-486-5p	CLIP-seq
MIRT1334621	hsa-miR-494	CLIP-seq
MIRT2619672	hsa-miR-498	CLIP-seq
MIRT2619673	hsa-miR-499-5p	CLIP-seq
MIRT2619674	hsa-miR-509-3p	CLIP-seq
MIRT2619675	hsa-miR-519d	CLIP-seq
MIRT2619676	hsa-miR-539	CLIP-seq
MIRT2619677	hsa-miR-548ah	CLIP-seq
MIRT2619678	hsa-miR-548c-3p	CLIP-seq
MIRT2619679	hsa-miR-556-5p	CLIP-seq
MIRT2619680	hsa-miR-582-5p	CLIP-seq
MIRT2619681	hsa-miR-641	CLIP-seq
MIRT2619682	hsa-miR-642b	CLIP-seq
MIRT2619683	hsa-miR-649	CLIP-seq
MIRT2619684	hsa-miR-656	CLIP-seq
MIRT2619685	hsa-miR-876-3p	CLIP-seq
MIRT2619686	hsa-miR-93	CLIP-seq
MIRT2619604	hsa-miR-106a	CLIP-seq
MIRT2619605	hsa-miR-106b	CLIP-seq
MIRT2619606	hsa-miR-1183	CLIP-seq
MIRT2619607	hsa-miR-1207-3p	CLIP-seq
MIRT2619608	hsa-miR-1208	CLIP-seq
MIRT2619609	hsa-miR-1258	CLIP-seq
MIRT2619610	hsa-miR-1264	CLIP-seq
MIRT2098977	hsa-miR-1266	CLIP-seq
MIRT2619611	hsa-miR-129-5p	CLIP-seq
MIRT1334604	hsa-miR-141	CLIP-seq
MIRT2619614	hsa-miR-17	CLIP-seq
MIRT1334608	hsa-miR-186	CLIP-seq
MIRT2619615	hsa-miR-1909	CLIP-seq
MIRT2619616	hsa-miR-192	CLIP-seq
MIRT1334610	hsa-miR-200a	CLIP-seq
MIRT2619617	hsa-miR-208a	CLIP-seq
MIRT2619618	hsa-miR-208b	CLIP-seq
MIRT2619619	hsa-miR-20a	CLIP-seq
MIRT2619620	hsa-miR-20b	CLIP-seq
MIRT2619621	hsa-miR-2115	CLIP-seq
MIRT2619623	hsa-miR-2117	CLIP-seq
MIRT2619625	hsa-miR-215	CLIP-seq
MIRT2619626	hsa-miR-216a	CLIP-seq
MIRT2619627	hsa-miR-2681	CLIP-seq
MIRT2619628	hsa-miR-3143	CLIP-seq
MIRT2619629	hsa-miR-3148	CLIP-seq
MIRT2619630	hsa-miR-3152-5p	CLIP-seq
MIRT2619631	hsa-miR-3194-3p	CLIP-seq
MIRT2690354	hsa-miR-320a	CLIP-seq
MIRT2690355	hsa-miR-320b	CLIP-seq
MIRT2690356	hsa-miR-320c	CLIP-seq
MIRT2690357	hsa-miR-320d	CLIP-seq
MIRT2619632	hsa-miR-323-5p	CLIP-seq
MIRT2619633	hsa-miR-3529	CLIP-seq
MIRT2619634	hsa-miR-3609	CLIP-seq
MIRT2619635	hsa-miR-3617	CLIP-seq
MIRT2619636	hsa-miR-3622a-3p	CLIP-seq
MIRT2619637	hsa-miR-3622b-3p	CLIP-seq
MIRT2619638	hsa-miR-3646	CLIP-seq
MIRT2619639	hsa-miR-3647-3p	CLIP-seq
MIRT2098979	hsa-miR-3664-3p	CLIP-seq
MIRT2619640	hsa-miR-3671	CLIP-seq
MIRT2619641	hsa-miR-371-5p	CLIP-seq
MIRT2619642	hsa-miR-371b-5p	CLIP-seq
MIRT2619644	hsa-miR-379	CLIP-seq
MIRT2619646	hsa-miR-3978	CLIP-seq
MIRT2619648	hsa-miR-4261	CLIP-seq
MIRT2098980	hsa-miR-4269	CLIP-seq
MIRT2619649	hsa-miR-4273	CLIP-seq
MIRT2619650	hsa-miR-4420	CLIP-seq
MIRT2619651	hsa-miR-4424	CLIP-seq
MIRT2619652	hsa-miR-4427	CLIP-seq
MIRT2690358	hsa-miR-4429	CLIP-seq
MIRT2619653	hsa-miR-4451	CLIP-seq
MIRT2619654	hsa-miR-4474-5p	CLIP-seq
MIRT2619655	hsa-miR-4477a	CLIP-seq
MIRT2619656	hsa-miR-4495	CLIP-seq
MIRT2619657	hsa-miR-4496	CLIP-seq
MIRT2098981	hsa-miR-4514	CLIP-seq
MIRT2098982	hsa-miR-4518	CLIP-seq
MIRT2619658	hsa-miR-4649-3p	CLIP-seq
MIRT2619659	hsa-miR-4650-3p	CLIP-seq
MIRT2619660	hsa-miR-4663	CLIP-seq
MIRT2619661	hsa-miR-4677-3p	CLIP-seq
MIRT2619663	hsa-miR-4679	CLIP-seq
MIRT2619664	hsa-miR-4680-3p	CLIP-seq
MIRT2619665	hsa-miR-4682	CLIP-seq
MIRT2098983	hsa-miR-4692	CLIP-seq
MIRT2690359	hsa-miR-4694-3p	CLIP-seq
MIRT2619666	hsa-miR-4695-3p	CLIP-seq
MIRT2619667	hsa-miR-4728-3p	CLIP-seq
MIRT2098984	hsa-miR-4742-5p	CLIP-seq
MIRT2690360	hsa-miR-4753-3p	CLIP-seq
MIRT2619668	hsa-miR-4760-5p	CLIP-seq
MIRT2619669	hsa-miR-4774-3p	CLIP-seq
MIRT2619670	hsa-miR-4796-3p	CLIP-seq
MIRT2619671	hsa-miR-486-5p	CLIP-seq
MIRT1334621	hsa-miR-494	CLIP-seq
MIRT2619672	hsa-miR-498	CLIP-seq
MIRT2619673	hsa-miR-499-5p	CLIP-seq
MIRT2619674	hsa-miR-509-3p	CLIP-seq
MIRT2619675	hsa-miR-519d	CLIP-seq
MIRT2690361	hsa-miR-522	CLIP-seq
MIRT2619676	hsa-miR-539	CLIP-seq
MIRT2619677	hsa-miR-548ah	CLIP-seq
MIRT2619678	hsa-miR-548c-3p	CLIP-seq
MIRT2619679	hsa-miR-556-5p	CLIP-seq
MIRT2619680	hsa-miR-582-5p	CLIP-seq
MIRT2619681	hsa-miR-641	CLIP-seq
MIRT2619682	hsa-miR-642b	CLIP-seq
MIRT2619683	hsa-miR-649	CLIP-seq
MIRT2619685	hsa-miR-876-3p	CLIP-seq
MIRT2619686	hsa-miR-93	CLIP-seq
MIRT2690362	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001755	Process	Neural crest cell migration	IBA
GO:0001764	Process	Neuron migration	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	8269517
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	TAS	19909241
GO:0008045	Process	Motor neuron axon guidance	IBA
GO:0008045	Process	Motor neuron axon guidance	ISS
GO:0010977	Process	Negative regulation of neuron projection development	IMP	21593320
GO:0021612	Process	Facial nerve structural organization	ISS
GO:0021637	Process	Trigeminal nerve structural organization	ISS
GO:0021675	Process	Nerve development	ISS
GO:0021772	Process	Olfactory bulb development	IMP	22416012
GO:0021785	Process	Branchiomotor neuron axon guidance	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030215	Function	Semaphorin receptor binding	IBA
GO:0030215	Function	Semaphorin receptor binding	IEA
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0030424	Component	Axon	IBA
GO:0030900	Process	Forebrain development	IEA
GO:0038191	Function	Neuropilin binding	IBA
GO:0038191	Function	Neuropilin binding	ISS
GO:0045499	Function	Chemorepellent activity	IBA
GO:0045499	Function	Chemorepellent activity	TAS	19909241
GO:0046330	Process	Positive regulation of JNK cascade	TAS	22683681
GO:0048485	Process	Sympathetic nervous system development	TAS	19909241
GO:0048841	Process	Regulation of axon extension involved in axon guidance	IDA	18053124
GO:0048846	Process	Axon extension involved in axon guidance	ISS
GO:0048880	Process	Sensory system development	TAS	19909241
GO:0050919	Process	Negative chemotaxis	IBA
GO:0060385	Process	Axonogenesis involved in innervation	ISS
GO:0061549	Process	Sympathetic ganglion development	ISS
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	ISS
GO:0071526	Process	Semaphorin-plexin signaling pathway	TAS	19909241
GO:0097490	Process	Sympathetic neuron projection extension	ISS
GO:0097491	Process	Sympathetic neuron projection guidance	ISS
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0150020	Process	Basal dendrite arborization	ISS	22683681
GO:0150020	Process	Basal dendrite arborization	TAS	22683681
GO:1901166	Process	Neural crest cell migration involved in autonomic nervous system development	ISS

Other IDs

• MIM: 603961
• HGNC: 10723
• e!Ensembl: ENSG00000075213

Protein

• UniProt ID: Q14563
• Protein name: Semaphorin-3A (Semaphorin III) (Sema III)
• Protein function: Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Bi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01403	Sema	59 → 496	Sema domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the dorsal root ganglia. {ECO:0000269|PubMed:28270793}.
• Sequence:

  MGWLTRIVCLFWGVLLTARANYQNGKNNVPRLKLSYKEMLESNNVITFNGLANSSSYHTF
  LLDEERSRLYVGAKDHIFSFDLVNIKDFQKIVWPVSYTRRDECKWAGKDILKECANFIKV
  LKAYNQTHLYACGTGAFHPICTYIEIGHHPEDNIFKLENSHFENGRGKSPYDPKLLTASL
  LIDGELYSGTAADFMGRDFAIFRTLGHHHPIRTEQHDSRWLNDPKFISAHLISESDNPED
  DKVYFFFRENAIDGEHSGKATHARIGQICKNDFGGHRSLVNKWTTFLKARLICSVPGPNG
  IDTHFDELQDVFLMNFKDPKNPVVYGVFTTSSNIFKGSAVCMYSMSDVRRVFLGPYAHRD
  GPNYQWVPYQGRVPYPRPGTCPSKTFGGFDSTKDLPDDVITFARSHPAMYNPVFPMNNRP
  IVIKTDVNYQFTQIVVDRVDAEDGQYDVMFIGTDVGTVLKVVSIPKETWYDLEEVLLEEM
  TVFREPTAISAMELSTKQQQLYIGSTAGVAQLPLHRCDIYGKACAECCLARDPYCAWDGS
  ACSRYFPTAKRRTRRQDIRNGDPLTHCSDLHHDNHHGHSPEERIIYGVENSSTFLECSPK
  SQRALVYWQFQRRNEERKEEIRVDDHIIRTDQGLLLRSLQQKDSGNYLCHAVEHGFIQTL
  LKVTLEVIDTEHLEELLHKDDDGDGSKTKEMSNSMTPSQKVWYRDFMQLINHPNLNTMDE
  FCEQVWKRDRKQRRQRPGHTPGNSNKWKHLQENKKGRNRRTHEFERAPRSV

• Sequence length: 771

Pathways

KEGG:

Axon guidance

Reactome:

Sema3A PAK dependent Axon repulsion
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
CRMPs in Sema3A signaling

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
Amenorrhea	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	ClinVar, Orphanet ClinVar, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM INFECTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delayed puberty	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism 16 with or without anosmia	risk factor; Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD, ClinVar, Disgenet, GWAS catalog CTD, ClinVar, Disgenet, GWAS catalog CTD, ClinVar, Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Martsolf syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OBESITY	—	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
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARENCHYMAL HEMATOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRION DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMA3A-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL DYSPLASIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	30378769		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	28636974		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	22093159		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	29794061		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30597767		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33663605	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16677822, 28103314, 29449528, 29773756		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27782869, 28736223		★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	24963029	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	22697500	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23343469	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28775366	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30538782	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28502680, 30967873		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18248790		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28188869, 29308627, 29696565		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	25336945	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	25955818, 28293171, 31481931		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29971782, 31327173		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18787945, 20655307, 29971782, 31929841, 38263416	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25973043	Stimulate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	24963029	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Brugada Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	24963029		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25812535		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	36430655	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	28502679		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	25601765		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25601765		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	29432577		★☆☆☆☆ Found in Text Mining only
Choroidal Neovascularization	Choroidal neovascularization	Pubtator	33876574	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36510452	Associate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	32612575	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anosmia	Congenital anosmia	Pubtator	29255181	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	24522099		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	28075028		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28540528		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	25978359	Inhibit	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20077500, 23343469, 29111592		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	33905439	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	33905439, 36075451	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	36012289	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24093675, 28135705		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24093675, 28135705		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29774455, 31467560		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	24756974	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36583231	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25475434, 27787866, 31025335		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	24093675		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	24124006		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	29443383		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	26720585	Associate	★☆☆☆☆ Found in Text Mining only
Erectile Dysfunction	Erectile dysfunction	Pubtator	38111702	Associate	★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	31394943	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29129044		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29129044, 29715102		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	12730958		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19855168, 25812535		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35148403	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32612575, 33369061	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33369061	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	30592759	Stimulate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	21898659, 23372769	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	22184102, 27469503, 29224790		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29224790		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29224790		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	29199452		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24756974	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	26199944, 32612575, 33369061, 35295983	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	29432577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	UNIPROT_DG	22416012, 22927827, 25077900		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	GENOMICS_ENGLAND_DG	22927827		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25978359	Associate	★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	19809158		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	21059704, 22416012, 22927827, 24522099, 24728844, 29432577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	22416012		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	29255181, 33369061	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24522099		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	22697500, 24756974, 31394943	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	25475434		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29513790, 29909462		★☆☆☆☆ Found in Text Mining only
Kniest dysplasia	Kniest Dysplasia	BEFREE	25604898		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18056484, 30378769	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26043758	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30378769	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28636974		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28683823		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26580097, 27351132, 28498470		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18625544		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22697500, 31394943	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29696565, 31394943, 31412748		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29670620		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25197349	Inhibit	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	33876574	Associate	★☆☆☆☆ Found in Text Mining only
Macular retinal edema	Macular edema	BEFREE	30803163		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29071344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29071344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21842119		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29971782, 31327173		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28683823		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25812535		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20949546, 25812535		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14500350, 19362386, 24213571, 24464477, 25812535, 26580097, 27197153, 29288007, 29794061, 30102336		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	18787945		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22448259		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	29740048		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	31033088		★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius syndrome	Pubtator	31033088	Associate	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	16684957		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	16677822, 28103314		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16684957, 30102336		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16684957	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17855378, 28284345, 29308627		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	28188869		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28636974		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	27197153		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28540528, 30099044		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28540528		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16380453, 18787945, 19809158, 21205984, 21842119, 22448259, 22562223, 25812535, 26755661, 26865270, 27197153, 27351132, 28683823, 29129044, 30378769, 31148871, 31350404		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	29909462		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30362583		★☆☆☆☆ Found in Text Mining only
Neuroma	Neuroma	BEFREE	18160633		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30155491		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	36430655	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoglophonic dwarfism	Osteoglosphonic dysplasia	BEFREE	30971898		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29883786, 30661929		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	25955818, 28135705, 29883786, 29975739		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	28064225		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29720701		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25812535		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	17631638		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	27776879, 29457037		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	28922848		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20949546, 25812535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24264315, 29740048	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	24756974	Stimulate	★☆☆☆☆ Found in Text Mining only
Pruritus	Pruritus	Pubtator	33905439, 36075451	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	22565412, 31148871		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	24464477, 27787866		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	25475434		★☆☆☆☆ Found in Text Mining only
Retinal Vein Occlusion	Retinal Vein Occlusion	BEFREE	30803163		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	23343469, 28775366, 29029510, 29308627, 29656374, 30538782, 31412748		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12610647, 16402134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	12610647		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12610647, 16402134, 17684500		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	26043758		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	23593010	Associate	★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	29203371		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Spondyloepimetaphyseal Dysplasia With Joint Laxity	BEFREE	29443383		★☆☆☆☆ Found in Text Mining only
Spondyloperipheral dysplasia short ulna	Spondyloperipheral dysplasia	BEFREE	25604898		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	26755661		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	28683823		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25197349	Inhibit	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26359450		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	22926477	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31839752		★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	27197153		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	29071344		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	24963029, 30100240		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	39375631	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	23593010		★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	23593010	Associate	★☆☆☆☆ Found in Text Mining only