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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8482
Gene name	Semaphorin 7A (JohnMiltonHagen blood group)
Gene symbol	SEMA7A
Synonyms (NCBI Gene)	CD108CDw108H-SEMA-K1H-Sema-LJMHPFIC11SEMAK1SEMAL
Chromosome	15
Chromosome location	15q24.1
Summary	This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lym

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs55637216	C>T	Affects	Missense variant, coding sequence variant
rs56367230	G>A,C	Affects	Missense variant, coding sequence variant
rs387907241	C>A,T	Affects	Coding sequence variant, missense variant

191

Show/Hide all (191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040303	hsa-miR-615-3p	CLASH	23622248
MIRT437947	hsa-miR-27a-3p	ChIP-seqqRT-PCRLuciferase reporter assayWestern blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seqqRT-PCRLuciferase reporter assayWestern blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seqqRT-PCRLuciferase reporter assayWestern blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seqqRT-PCRLuciferase reporter assayWestern blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seqqRT-PCRLuciferase reporter assayWestern blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seqqRT-PCRLuciferase reporter assayWestern blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seqqRT-PCRLuciferase reporter assayWestern blot	24725595
MIRT437947	hsa-miR-27a-3p	ChIP-seqqRT-PCRLuciferase reporter assayWestern blot	24725595
MIRT653978	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT653979	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT386120	hsa-miR-4267	HITS-CLIP	23824327
MIRT653977	hsa-miR-3927-5p	HITS-CLIP	23824327
MIRT653976	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653975	hsa-miR-1273f	HITS-CLIP	23824327
MIRT653974	hsa-miR-4534	HITS-CLIP	23824327
MIRT653973	hsa-miR-8082	HITS-CLIP	23824327
MIRT653972	hsa-miR-1289	HITS-CLIP	23824327
MIRT498088	hsa-miR-4294	HITS-CLIP	23824327
MIRT653971	hsa-miR-7977	HITS-CLIP	23824327
MIRT653970	hsa-miR-3198	HITS-CLIP	23824327
MIRT653969	hsa-miR-4309	HITS-CLIP	23824327
MIRT498096	hsa-miR-6507-3p	PAR-CLIP	22291592
MIRT498095	hsa-miR-1264	PAR-CLIP	22291592
MIRT498094	hsa-miR-577	PAR-CLIP	22291592
MIRT498093	hsa-miR-142-5p	PAR-CLIP	22291592
MIRT498092	hsa-miR-5590-3p	PAR-CLIP	22291592
MIRT498091	hsa-miR-4766-5p	PAR-CLIP	22291592
MIRT498090	hsa-miR-635	PAR-CLIP	22291592
MIRT498089	hsa-miR-6774-5p	PAR-CLIP	22291592
MIRT498088	hsa-miR-4294	PAR-CLIP	22291592
MIRT498087	hsa-miR-520a-5p	PAR-CLIP	22291592
MIRT498086	hsa-miR-525-5p	PAR-CLIP	22291592
MIRT498085	hsa-miR-3180-5p	PAR-CLIP	22291592
MIRT492383	hsa-miR-33a-5p	PAR-CLIP	23592263
MIRT492382	hsa-miR-33b-5p	PAR-CLIP	23592263
MIRT492381	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492380	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492379	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492378	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492377	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT492376	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492375	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492374	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492373	hsa-miR-323a-3p	PAR-CLIP	23592263
MIRT492372	hsa-miR-320a	PAR-CLIP	23592263
MIRT492371	hsa-miR-320b	PAR-CLIP	23592263
MIRT492370	hsa-miR-320c	PAR-CLIP	23592263
MIRT492369	hsa-miR-320d	PAR-CLIP	23592263
MIRT492368	hsa-miR-4429	PAR-CLIP	23592263
MIRT492367	hsa-miR-3609	PAR-CLIP	23592263
MIRT492366	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT492365	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT492364	hsa-miR-320e	PAR-CLIP	23592263
MIRT492363	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492362	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492361	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492360	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT492359	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT492358	hsa-miR-4461	PAR-CLIP	23592263
MIRT492357	hsa-miR-1253	PAR-CLIP	23592263
MIRT492356	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT492355	hsa-miR-6132	PAR-CLIP	23592263
MIRT492354	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT492353	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT492352	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT492351	hsa-miR-3926	PAR-CLIP	23592263
MIRT386137	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT386141	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT492350	hsa-miR-4477a	PAR-CLIP	23592263
MIRT492349	hsa-miR-580-3p	PAR-CLIP	23592263
MIRT492357	hsa-miR-1253	PAR-CLIP	27292025
MIRT492353	hsa-miR-1909-3p	PAR-CLIP	27292025
MIRT492372	hsa-miR-320a	PAR-CLIP	27292025
MIRT492371	hsa-miR-320b	PAR-CLIP	27292025
MIRT492370	hsa-miR-320c	PAR-CLIP	27292025
MIRT492369	hsa-miR-320d	PAR-CLIP	27292025
MIRT492364	hsa-miR-320e	PAR-CLIP	27292025
MIRT492383	hsa-miR-33a-5p	PAR-CLIP	27292025
MIRT492382	hsa-miR-33b-5p	PAR-CLIP	27292025
MIRT492351	hsa-miR-3926	PAR-CLIP	27292025
MIRT492368	hsa-miR-4429	PAR-CLIP	27292025
MIRT492358	hsa-miR-4461	PAR-CLIP	27292025
MIRT492360	hsa-miR-5197-3p	PAR-CLIP	27292025
MIRT492363	hsa-miR-519a-3p	PAR-CLIP	27292025
MIRT492362	hsa-miR-519b-3p	PAR-CLIP	27292025
MIRT492361	hsa-miR-519c-3p	PAR-CLIP	27292025
MIRT492349	hsa-miR-580-3p	PAR-CLIP	27292025
MIRT492355	hsa-miR-6132	PAR-CLIP	27292025
MIRT492352	hsa-miR-6722-3p	PAR-CLIP	27292025
MIRT386137	hsa-miR-6762-5p	PAR-CLIP	27292025
MIRT492356	hsa-miR-6770-5p	PAR-CLIP	27292025
MIRT492354	hsa-miR-6836-5p	PAR-CLIP	27292025
MIRT386141	hsa-miR-6845-5p	PAR-CLIP	27292025
MIRT653978	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT653979	hsa-miR-6514-5p	HITS-CLIP	23824327
MIRT386120	hsa-miR-4267	HITS-CLIP	23824327
MIRT653977	hsa-miR-3927-5p	HITS-CLIP	23824327
MIRT653976	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653975	hsa-miR-1273f	HITS-CLIP	23824327
MIRT653974	hsa-miR-4534	HITS-CLIP	23824327
MIRT653973	hsa-miR-8082	HITS-CLIP	23824327
MIRT653972	hsa-miR-1289	HITS-CLIP	23824327
MIRT498088	hsa-miR-4294	HITS-CLIP	23824327
MIRT653971	hsa-miR-7977	HITS-CLIP	23824327
MIRT653970	hsa-miR-3198	HITS-CLIP	23824327
MIRT653969	hsa-miR-4309	HITS-CLIP	23824327
MIRT498096	hsa-miR-6507-3p	PAR-CLIP	22291592
MIRT498095	hsa-miR-1264	PAR-CLIP	22291592
MIRT498094	hsa-miR-577	PAR-CLIP	22291592
MIRT498093	hsa-miR-142-5p	PAR-CLIP	22291592
MIRT498092	hsa-miR-5590-3p	PAR-CLIP	22291592
MIRT498091	hsa-miR-4766-5p	PAR-CLIP	22291592
MIRT498090	hsa-miR-635	PAR-CLIP	22291592
MIRT498089	hsa-miR-6774-5p	PAR-CLIP	22291592
MIRT498088	hsa-miR-4294	PAR-CLIP	22291592
MIRT498087	hsa-miR-520a-5p	PAR-CLIP	22291592
MIRT498086	hsa-miR-525-5p	PAR-CLIP	22291592
MIRT498085	hsa-miR-3180-5p	PAR-CLIP	22291592
MIRT492383	hsa-miR-33a-5p	PAR-CLIP	23592263
MIRT492382	hsa-miR-33b-5p	PAR-CLIP	23592263
MIRT492381	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492380	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492379	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492378	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492377	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT492376	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492375	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492374	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492373	hsa-miR-323a-3p	PAR-CLIP	23592263
MIRT492372	hsa-miR-320a	PAR-CLIP	23592263
MIRT492371	hsa-miR-320b	PAR-CLIP	23592263
MIRT492370	hsa-miR-320c	PAR-CLIP	23592263
MIRT492369	hsa-miR-320d	PAR-CLIP	23592263
MIRT492368	hsa-miR-4429	PAR-CLIP	23592263
MIRT492367	hsa-miR-3609	PAR-CLIP	23592263
MIRT492366	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT492365	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT492364	hsa-miR-320e	PAR-CLIP	23592263
MIRT492363	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492362	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492361	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492360	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT492359	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT492358	hsa-miR-4461	PAR-CLIP	23592263
MIRT492357	hsa-miR-1253	PAR-CLIP	23592263
MIRT492356	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT492355	hsa-miR-6132	PAR-CLIP	23592263
MIRT492354	hsa-miR-6836-5p	PAR-CLIP	23592263
MIRT492353	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT492352	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT492351	hsa-miR-3926	PAR-CLIP	23592263
MIRT386137	hsa-miR-6762-5p	PAR-CLIP	23592263
MIRT386141	hsa-miR-6845-5p	PAR-CLIP	23592263
MIRT492350	hsa-miR-4477a	PAR-CLIP	23592263
MIRT492349	hsa-miR-580-3p	PAR-CLIP	23592263
MIRT1335583	hsa-miR-128	CLIP-seq
MIRT1335584	hsa-miR-1280	CLIP-seq
MIRT1335585	hsa-miR-1972	CLIP-seq
MIRT1335586	hsa-miR-27a	CLIP-seq
MIRT1335587	hsa-miR-27b	CLIP-seq
MIRT1335588	hsa-miR-4286	CLIP-seq
MIRT1335589	hsa-miR-4529-5p	CLIP-seq
MIRT1335590	hsa-miR-4695-5p	CLIP-seq
MIRT1335591	hsa-miR-5096	CLIP-seq
MIRT1335592	hsa-miR-513a-5p	CLIP-seq
MIRT1335593	hsa-miR-765	CLIP-seq
MIRT1335583	hsa-miR-128	CLIP-seq
MIRT1553308	hsa-miR-1909	CLIP-seq
MIRT1335586	hsa-miR-27a	CLIP-seq
MIRT1335587	hsa-miR-27b	CLIP-seq
MIRT1553309	hsa-miR-3202	CLIP-seq
MIRT1553310	hsa-miR-33a	CLIP-seq
MIRT1553311	hsa-miR-33b	CLIP-seq
MIRT1553312	hsa-miR-4252	CLIP-seq
MIRT1553313	hsa-miR-4292	CLIP-seq
MIRT1553314	hsa-miR-4493	CLIP-seq
MIRT1553315	hsa-miR-4533	CLIP-seq
MIRT1553316	hsa-miR-4656	CLIP-seq
MIRT1553317	hsa-miR-4717-5p	CLIP-seq
MIRT1553318	hsa-miR-4753-5p	CLIP-seq
MIRT1335591	hsa-miR-5096	CLIP-seq
MIRT1335592	hsa-miR-513a-5p	CLIP-seq
MIRT1553319	hsa-miR-519a	CLIP-seq
MIRT1553320	hsa-miR-580	CLIP-seq
MIRT2099209	hsa-miR-205	CLIP-seq
MIRT1553313	hsa-miR-4292	CLIP-seq
MIRT2394214	hsa-miR-4419a	CLIP-seq
MIRT2394215	hsa-miR-4510	CLIP-seq
MIRT2432970	hsa-miR-3121-3p	CLIP-seq
MIRT2432971	hsa-miR-3667-3p	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0001755	Process	Neural crest cell migration	IBA
GO:0005178	Function	Integrin binding	IBA
GO:0005178	Function	Integrin binding	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 20727575
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	TAS	9721204
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IDA	12879062
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0016020	Component	Membrane	HDA	16210410
GO:0016020	Component	Membrane	IEA
GO:0021988	Process	Olfactory lobe development	IEA
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:0031012	Component	Extracellular matrix	HDA	28327460
GO:0031175	Process	Neuron projection development	IEA
GO:0038191	Function	Neuropilin binding	IBA
GO:0045499	Function	Chemorepellent activity	IBA
GO:0045773	Process	Positive regulation of axon extension	IDA	12879062
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0048675	Process	Axon extension	IEA
GO:0050727	Process	Regulation of inflammatory response	IBA
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0050919	Process	Negative chemotaxis	IBA
GO:0060907	Process	Positive regulation of macrophage cytokine production	IEA
GO:0060907	Process	Positive regulation of macrophage cytokine production	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	12879062
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0090128	Process	Regulation of synapse maturation	IEA
GO:0098552	Component	Side of membrane	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA

MIM	HGNC	e!Ensembl
607961	10741	ENSG00000138623

O75326

Protein name

Semaphorin-7A (CDw108) (JMH blood group antigen) (John-Milton-Hargen human blood group Ag) (Semaphorin-K1) (Sema K1) (Semaphorin-L) (Sema L) (CD antigen CD108)

Protein function

Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylatio

PDB

3NVQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01403	Sema	77 → 472	Sema domain	Family
PF01437	PSI	492 → 550	Plexin repeat	Family
PF13895	Ig_2	545 → 628	Immunoglobulin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in skin keratinocytes and on endothelial cells from skin blood vessels (at protein level). Expressed in fibroblasts, keratinocytes, melanocytes, placenta, testis, ovary, spleen, brain, spinal cord, lung, heart, adrenal gland,

Sequence

MTPPPPGRAAPSAPRARVPGPPARLGLPLRLRLLLLLWAAAASAQGHLRSGPRIFAVWKG
HVGQDRVDFGQTEPHTVLFHEPGSSSVWVGGRGKVYLFDFPEGKNASVRTVNIGSTKGSC
LDKRDCENYITLLERRSEGLLACGTNARHPSCWNLVNGTVVPLGEMRGYAPFSPDENSLV
LFEGDEVYSTIRKQEYNGKIPRFRRIRGESELYTSDTVMQNPQFIKATIVHQDQAYDDKI
YYFFREDNPDKNPEAPLNVSRVAQLCRGDQGGESSLSVSKWNTFLKAMLVCSDAATNKNF
NRLQDVFLLPDPSGQWRDTRVYGVFSNPWNYSAVCVYSLGDIDKVFRTSSLKGYHSSLPN
PRPGKCLPDQQPIPTETFQVADRHPEVAQRVEPMGPLKTPLFHSKYHYQKVAVHRMQASH
GETFHVLYLTTDRGTIHKVVEPGEQEHSFAFNIMEIQPFRRAAAIQTMSLDAERRKLYVS
SQWEVSQVPLDLCEVYGGGCHGCLMSRDPYCGWDQGRCISIYSSERSVLQSINPAEPHKE
CPNPKPDKAPLQKVSLAPNSRYYLSCPMESRHATYSWRHKENVEQSCEPGHQSPNCILFI
ENLTAQQYGHYFCEAQEGSYFREAQHWQLLPEDGIMAEHLLGHACALAASLWLGVLPTLT
LGLLVH

Sequence length

666

Interactions

View interactions

	KEGG		Reactome
	Axon guidance		Other semaphorin interactions

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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cholestasis, progressive familial intrahepatic, 11	Pathogenic	rs200895370	RCV002248475	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ 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; Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
John Milton Hagen blood group system	Affects; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE INTRAHEPATIC CHOLESTASIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMA7A-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (53)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30568033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29269512, 30555351, 30729666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	31394943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16778393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24333536, 38022556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29269512, 30555351, 30729666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	31990411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29048670, 30254150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35955933	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30729666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38092774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	24522099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG	24522099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	29453607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31179640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31179640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exanthema	Exanthema	Pubtator	31394943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29453607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	31990411	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	31151295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	31394943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	1372190	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30729666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	30098700	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	30098700		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28095470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	24522099, 31650878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	31650878	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24522099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31394943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	21484765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	31394943	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31394943, 31412748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27065336, 29048670, 30254150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31732974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24222277, 29509252, 30254150		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27065336, 29048670		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18987670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	26378920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27714632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	29700358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18987670, 27065336, 29108785, 30254150, 31151295		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31179640		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	27065336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31732974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29453607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	31236342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21484765, 24333536, 28095470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29453607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28109308, 31412748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	37661009	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26378920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33316777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SEMA7A (semaphorin 7A (JohnMiltonHagen blood group))