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	10225
Gene name	CD96 molecule
Gene symbol	CD96
Synonyms (NCBI Gene)	TACTILE
Chromosome	3
Chromosome location	3q13.13-q13.2
Summary	The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also fun

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119477056	C>A,T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant

278

Show/Hide all (278)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019019	hsa-miR-335-5p	Microarray	18185580
MIRT682964	hsa-miR-1273g-3p	HITS-CLIP	23706177
MIRT682963	hsa-miR-4252	HITS-CLIP	23706177
MIRT682962	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT680068	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT680067	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT680066	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT680065	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT680064	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT680063	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT680062	hsa-miR-1976	HITS-CLIP	23824327
MIRT680061	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT680060	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT680059	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT680058	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT680057	hsa-miR-640	HITS-CLIP	23824327
MIRT680056	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT680055	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT682964	hsa-miR-1273g-3p	HITS-CLIP	23706177
MIRT682963	hsa-miR-4252	HITS-CLIP	23706177
MIRT682962	hsa-miR-6807-5p	HITS-CLIP	23706177
MIRT680068	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT680067	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT680066	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT680065	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT680064	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT680063	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT680062	hsa-miR-1976	HITS-CLIP	23824327
MIRT680061	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT680060	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT680059	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT680058	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT680057	hsa-miR-640	HITS-CLIP	23824327
MIRT680056	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT680055	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT755479	hsa-miR-221-5p	Luciferase reporter assayWestern blottingqRT-PCR	36499501
MIRT876510	hsa-miR-1252	CLIP-seq
MIRT876511	hsa-miR-3173-3p	CLIP-seq
MIRT876512	hsa-miR-4476	CLIP-seq
MIRT876513	hsa-miR-7	CLIP-seq
MIRT876514	hsa-miR-106a	CLIP-seq
MIRT876515	hsa-miR-106b	CLIP-seq
MIRT876516	hsa-miR-1193	CLIP-seq
MIRT876517	hsa-miR-1208	CLIP-seq
MIRT876518	hsa-miR-122	CLIP-seq
MIRT876519	hsa-miR-1234	CLIP-seq
MIRT876520	hsa-miR-1470	CLIP-seq
MIRT876521	hsa-miR-150	CLIP-seq
MIRT876522	hsa-miR-17	CLIP-seq
MIRT876523	hsa-miR-199a-5p	CLIP-seq
MIRT876524	hsa-miR-199b-5p	CLIP-seq
MIRT876525	hsa-miR-20a	CLIP-seq
MIRT876526	hsa-miR-20b	CLIP-seq
MIRT876527	hsa-miR-2115	CLIP-seq
MIRT876528	hsa-miR-2392	CLIP-seq
MIRT876529	hsa-miR-302a	CLIP-seq
MIRT876530	hsa-miR-302b	CLIP-seq
MIRT876531	hsa-miR-302c	CLIP-seq
MIRT876532	hsa-miR-302d	CLIP-seq
MIRT876533	hsa-miR-302e	CLIP-seq
MIRT876534	hsa-miR-3119	CLIP-seq
MIRT876535	hsa-miR-3152-3p	CLIP-seq
MIRT876536	hsa-miR-3158-3p	CLIP-seq
MIRT876537	hsa-miR-3690	CLIP-seq
MIRT876538	hsa-miR-372	CLIP-seq
MIRT876539	hsa-miR-373	CLIP-seq
MIRT876540	hsa-miR-4254	CLIP-seq
MIRT876541	hsa-miR-4270	CLIP-seq
MIRT876542	hsa-miR-4287	CLIP-seq
MIRT876543	hsa-miR-4312	CLIP-seq
MIRT876544	hsa-miR-4420	CLIP-seq
MIRT876545	hsa-miR-4426	CLIP-seq
MIRT876546	hsa-miR-4438	CLIP-seq
MIRT876547	hsa-miR-4441	CLIP-seq
MIRT876548	hsa-miR-4446-3p	CLIP-seq
MIRT876549	hsa-miR-4446-5p	CLIP-seq
MIRT876550	hsa-miR-4647	CLIP-seq
MIRT876551	hsa-miR-4648	CLIP-seq
MIRT876552	hsa-miR-4654	CLIP-seq
MIRT876553	hsa-miR-4662a-5p	CLIP-seq
MIRT876554	hsa-miR-4662b	CLIP-seq
MIRT876555	hsa-miR-4667-3p	CLIP-seq
MIRT876556	hsa-miR-4676-5p	CLIP-seq
MIRT876557	hsa-miR-4685-3p	CLIP-seq
MIRT876558	hsa-miR-4686	CLIP-seq
MIRT876559	hsa-miR-4731-5p	CLIP-seq
MIRT876560	hsa-miR-4747-5p	CLIP-seq
MIRT876561	hsa-miR-4755-5p	CLIP-seq
MIRT876562	hsa-miR-4769-5p	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT876564	hsa-miR-5095	CLIP-seq
MIRT876565	hsa-miR-512-3p	CLIP-seq
MIRT876566	hsa-miR-513c	CLIP-seq
MIRT876567	hsa-miR-514b-5p	CLIP-seq
MIRT876568	hsa-miR-516a-3p	CLIP-seq
MIRT876569	hsa-miR-519d	CLIP-seq
MIRT876570	hsa-miR-520a-3p	CLIP-seq
MIRT876571	hsa-miR-520b	CLIP-seq
MIRT876572	hsa-miR-520c-3p	CLIP-seq
MIRT876573	hsa-miR-520d-3p	CLIP-seq
MIRT876574	hsa-miR-520e	CLIP-seq
MIRT876575	hsa-miR-520g	CLIP-seq
MIRT876576	hsa-miR-520h	CLIP-seq
MIRT876577	hsa-miR-574-5p	CLIP-seq
MIRT876578	hsa-miR-575	CLIP-seq
MIRT876579	hsa-miR-642a	CLIP-seq
MIRT876580	hsa-miR-892a	CLIP-seq
MIRT876581	hsa-miR-93	CLIP-seq
MIRT876516	hsa-miR-1193	CLIP-seq
MIRT876517	hsa-miR-1208	CLIP-seq
MIRT1921547	hsa-miR-129-5p	CLIP-seq
MIRT876528	hsa-miR-2392	CLIP-seq
MIRT1921548	hsa-miR-3149	CLIP-seq
MIRT876535	hsa-miR-3152-3p	CLIP-seq
MIRT1921549	hsa-miR-411	CLIP-seq
MIRT876544	hsa-miR-4420	CLIP-seq
MIRT876553	hsa-miR-4662a-5p	CLIP-seq
MIRT876556	hsa-miR-4676-5p	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT876578	hsa-miR-575	CLIP-seq
MIRT876580	hsa-miR-892a	CLIP-seq
MIRT876516	hsa-miR-1193	CLIP-seq
MIRT876517	hsa-miR-1208	CLIP-seq
MIRT1921547	hsa-miR-129-5p	CLIP-seq
MIRT876528	hsa-miR-2392	CLIP-seq
MIRT1921548	hsa-miR-3149	CLIP-seq
MIRT876535	hsa-miR-3152-3p	CLIP-seq
MIRT1921549	hsa-miR-411	CLIP-seq
MIRT876544	hsa-miR-4420	CLIP-seq
MIRT876553	hsa-miR-4662a-5p	CLIP-seq
MIRT876556	hsa-miR-4676-5p	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT876578	hsa-miR-575	CLIP-seq
MIRT876580	hsa-miR-892a	CLIP-seq
MIRT876516	hsa-miR-1193	CLIP-seq
MIRT876517	hsa-miR-1208	CLIP-seq
MIRT1921547	hsa-miR-129-5p	CLIP-seq
MIRT876528	hsa-miR-2392	CLIP-seq
MIRT1921548	hsa-miR-3149	CLIP-seq
MIRT876535	hsa-miR-3152-3p	CLIP-seq
MIRT1921549	hsa-miR-411	CLIP-seq
MIRT876544	hsa-miR-4420	CLIP-seq
MIRT876553	hsa-miR-4662a-5p	CLIP-seq
MIRT876556	hsa-miR-4676-5p	CLIP-seq
MIRT1921947	hsa-miR-4735-5p	CLIP-seq
MIRT1921948	hsa-miR-4775	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT876578	hsa-miR-575	CLIP-seq
MIRT1921949	hsa-miR-590-3p	CLIP-seq
MIRT876580	hsa-miR-892a	CLIP-seq
MIRT876516	hsa-miR-1193	CLIP-seq
MIRT876517	hsa-miR-1208	CLIP-seq
MIRT1921547	hsa-miR-129-5p	CLIP-seq
MIRT876528	hsa-miR-2392	CLIP-seq
MIRT1921548	hsa-miR-3149	CLIP-seq
MIRT876535	hsa-miR-3152-3p	CLIP-seq
MIRT1921549	hsa-miR-411	CLIP-seq
MIRT876544	hsa-miR-4420	CLIP-seq
MIRT876553	hsa-miR-4662a-5p	CLIP-seq
MIRT876556	hsa-miR-4676-5p	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT876578	hsa-miR-575	CLIP-seq
MIRT876580	hsa-miR-892a	CLIP-seq
MIRT876514	hsa-miR-106a	CLIP-seq
MIRT876515	hsa-miR-106b	CLIP-seq
MIRT876516	hsa-miR-1193	CLIP-seq
MIRT876519	hsa-miR-1234	CLIP-seq
MIRT1959750	hsa-miR-1257	CLIP-seq
MIRT876521	hsa-miR-150	CLIP-seq
MIRT876522	hsa-miR-17	CLIP-seq
MIRT876525	hsa-miR-20a	CLIP-seq
MIRT876526	hsa-miR-20b	CLIP-seq
MIRT876528	hsa-miR-2392	CLIP-seq
MIRT876529	hsa-miR-302a	CLIP-seq
MIRT876530	hsa-miR-302b	CLIP-seq
MIRT876531	hsa-miR-302c	CLIP-seq
MIRT876532	hsa-miR-302d	CLIP-seq
MIRT876533	hsa-miR-302e	CLIP-seq
MIRT1959751	hsa-miR-3065-5p	CLIP-seq
MIRT1959752	hsa-miR-3127-3p	CLIP-seq
MIRT1959753	hsa-miR-3176	CLIP-seq
MIRT876538	hsa-miR-372	CLIP-seq
MIRT876539	hsa-miR-373	CLIP-seq
MIRT1959754	hsa-miR-3922-3p	CLIP-seq
MIRT1959755	hsa-miR-4757-5p	CLIP-seq
MIRT1959756	hsa-miR-500a	CLIP-seq
MIRT1959757	hsa-miR-505	CLIP-seq
MIRT876565	hsa-miR-512-3p	CLIP-seq
MIRT1959758	hsa-miR-513a-3p	CLIP-seq
MIRT876569	hsa-miR-519d	CLIP-seq
MIRT876570	hsa-miR-520a-3p	CLIP-seq
MIRT876571	hsa-miR-520b	CLIP-seq
MIRT876572	hsa-miR-520c-3p	CLIP-seq
MIRT876573	hsa-miR-520d-3p	CLIP-seq
MIRT876574	hsa-miR-520e	CLIP-seq
MIRT876575	hsa-miR-520g	CLIP-seq
MIRT876576	hsa-miR-520h	CLIP-seq
MIRT1959759	hsa-miR-875-5p	CLIP-seq
MIRT876581	hsa-miR-93	CLIP-seq
MIRT2196806	hsa-miR-103a	CLIP-seq
MIRT876514	hsa-miR-106a	CLIP-seq
MIRT876515	hsa-miR-106b	CLIP-seq
MIRT2196807	hsa-miR-107	CLIP-seq
MIRT876516	hsa-miR-1193	CLIP-seq
MIRT876517	hsa-miR-1208	CLIP-seq
MIRT876519	hsa-miR-1234	CLIP-seq
MIRT2196808	hsa-miR-1260	CLIP-seq
MIRT2196809	hsa-miR-1260b	CLIP-seq
MIRT2196810	hsa-miR-1270	CLIP-seq
MIRT2196811	hsa-miR-1273f	CLIP-seq
MIRT876521	hsa-miR-150	CLIP-seq
MIRT876522	hsa-miR-17	CLIP-seq
MIRT2196812	hsa-miR-188-3p	CLIP-seq
MIRT2196813	hsa-miR-19a	CLIP-seq
MIRT2196814	hsa-miR-19b	CLIP-seq
MIRT876525	hsa-miR-20a	CLIP-seq
MIRT876526	hsa-miR-20b	CLIP-seq
MIRT2196815	hsa-miR-2276	CLIP-seq
MIRT876528	hsa-miR-2392	CLIP-seq
MIRT876529	hsa-miR-302a	CLIP-seq
MIRT876530	hsa-miR-302b	CLIP-seq
MIRT876531	hsa-miR-302c	CLIP-seq
MIRT876532	hsa-miR-302d	CLIP-seq
MIRT876533	hsa-miR-302e	CLIP-seq
MIRT876535	hsa-miR-3152-3p	CLIP-seq
MIRT2196816	hsa-miR-3156-3p	CLIP-seq
MIRT876538	hsa-miR-372	CLIP-seq
MIRT876539	hsa-miR-373	CLIP-seq
MIRT2196817	hsa-miR-3937	CLIP-seq
MIRT1921549	hsa-miR-411	CLIP-seq
MIRT876544	hsa-miR-4420	CLIP-seq
MIRT876546	hsa-miR-4438	CLIP-seq
MIRT2196818	hsa-miR-4531	CLIP-seq
MIRT876553	hsa-miR-4662a-5p	CLIP-seq
MIRT876556	hsa-miR-4676-5p	CLIP-seq
MIRT2196819	hsa-miR-4683	CLIP-seq
MIRT876559	hsa-miR-4731-5p	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT876564	hsa-miR-5095	CLIP-seq
MIRT876565	hsa-miR-512-3p	CLIP-seq
MIRT876569	hsa-miR-519d	CLIP-seq
MIRT876570	hsa-miR-520a-3p	CLIP-seq
MIRT876571	hsa-miR-520b	CLIP-seq
MIRT876572	hsa-miR-520c-3p	CLIP-seq
MIRT876573	hsa-miR-520d-3p	CLIP-seq
MIRT876574	hsa-miR-520e	CLIP-seq
MIRT876575	hsa-miR-520g	CLIP-seq
MIRT876576	hsa-miR-520h	CLIP-seq
MIRT2196820	hsa-miR-545	CLIP-seq
MIRT876578	hsa-miR-575	CLIP-seq
MIRT2196821	hsa-miR-620	CLIP-seq
MIRT2196822	hsa-miR-630	CLIP-seq
MIRT876580	hsa-miR-892a	CLIP-seq
MIRT876581	hsa-miR-93	CLIP-seq
MIRT1921547	hsa-miR-129-5p	CLIP-seq
MIRT1921548	hsa-miR-3149	CLIP-seq
MIRT1921549	hsa-miR-411	CLIP-seq
MIRT1921947	hsa-miR-4735-5p	CLIP-seq
MIRT1921948	hsa-miR-4775	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT1921949	hsa-miR-590-3p	CLIP-seq
MIRT2446639	hsa-miR-941	CLIP-seq
MIRT1921547	hsa-miR-129-5p	CLIP-seq
MIRT1921548	hsa-miR-3149	CLIP-seq
MIRT1921549	hsa-miR-411	CLIP-seq
MIRT1921947	hsa-miR-4735-5p	CLIP-seq
MIRT1921948	hsa-miR-4775	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT1921949	hsa-miR-590-3p	CLIP-seq
MIRT2446639	hsa-miR-941	CLIP-seq
MIRT1921547	hsa-miR-129-5p	CLIP-seq
MIRT1921548	hsa-miR-3149	CLIP-seq
MIRT1921549	hsa-miR-411	CLIP-seq
MIRT1921947	hsa-miR-4735-5p	CLIP-seq
MIRT1921948	hsa-miR-4775	CLIP-seq
MIRT876563	hsa-miR-483-5p	CLIP-seq
MIRT1921949	hsa-miR-590-3p	CLIP-seq
MIRT2446639	hsa-miR-941	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002728	Process	Negative regulation of natural killer cell cytokine production	IEA
GO:0005737	Component	Cytoplasm	IDA	17847009
GO:0005886	Component	Plasma membrane	TAS	1313846
GO:0006954	Process	Inflammatory response	IBA
GO:0006955	Process	Immune response	TAS	1313846
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	1313846
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IDA	17847009
GO:0016020	Component	Membrane	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032689	Process	Negative regulation of type II interferon production	IEA

MIM	HGNC	e!Ensembl
606037	16892	ENSG00000153283

P40200

Protein name

T-cell surface protein tactile (Cell surface antigen CD96) (T cell-activated increased late expression protein) (CD antigen CD96)

Protein function

May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have

PDB

6ARQ

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed on normal T-cell lines and clones, and some transformed T-cells, but no other cultured cell lines tested. It is expressed at very low levels on activated B-cells.

Sequence

MEKKWKYCAVYYIIQIHFVKGVWEKTVNTEENVYATLGSDVNLTCQTQTVGFFVQMQWSK
VTNKIDLIAVYHPQYGFYCAYGRPCESLVTFTETPENGSKWTLHLRNMSCSVSGRYECML
VLYPEGIQTKIYNLLIQTHVTADEWNSNHTIEIEINQTLEIPCFQNSSSKISSEFTYAWS
VENSSTDSWVLLSKGIKEDNGTQETLISQNHLISNSTLLKDRVKLGTDYRLHLSPVQIFD
DGRKFSCHIRVGPNKILRSSTTVKVFAKPEIPVIVENNSTDVLVERRFTCLLKNVFPKAN
ITWFIDGSFLHDEKEGIYITNEERKGKDGFLELKSVLTRVHSNKPAQSDNLTIWCMALSP
VPGNKVWNISSEKITFLLGSEISSTDPPLSVTESTLDTQPSPASSVSPARYPATSSVTLV
DVSALRPNTTPQPSNSSMTTRGFNYPWTSSGTDTKKSVSRIPSETYSSSPSGAGSTLHDN
VFTSTARAFSEVPTTANGSTKTNHVHITGIVVNKPKDGMSWPVIVAALLFCCMILFGLGV
RKWCQYQKEIMERPPPFKPPPPPIKYTCIQEPNESDLPYHEMETL

Sequence length

585

Interactions

View interactions

	Reactome
			Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

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
C syndrome	Pathogenic	rs119477056	RCV000004903	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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
CD96-related disorder	Benign; Uncertain significance; Likely 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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM INFECTIOUS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	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 (84)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	22879978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	20442368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angina Pectoris	Angina pectoris	Pubtator	26823790	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring-Opitz syndrome	BEFREE	17847009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
C syndrome	C Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinogenesis	Carcinogenesis	Pubtator	36043142	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	21685187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASDB_DG	21685187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30383736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30383736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	22208759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31043678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	31043678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatofibrosis lenticularis disseminata	Dermatofibrosis Lenticularis Disseminata	BEFREE	26768331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	40660273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Female Pseudohermaphroditism	Female Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32612110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	40660273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	23272144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	40660273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic Attack Transient	Transient ischemic attack	Pubtator	39919905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	19243819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21856272, 22879978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20662087, 22879978, 23233446, 28391288, 29720577, 39582863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	17576927		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22879978, 28391288, 31123028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30411378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27626490	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30411378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30222899, 30894377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30761123, 36043142	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36043142	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20662087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	26823790	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36438903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28258695, 29868026, 30222899, 30411378, 30894377, 30908480, 31234588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz trigonocephaly syndrome	C syndrome	BEFREE	17847009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz trigonocephaly syndrome	C syndrome	GENOMICS_ENGLAND_DG	17847009, 26768331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz trigonocephaly syndrome	C syndrome	ORPHANET_DG	17847009, 19449408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz trigonocephaly syndrome	C syndrome	CTD_human_DG	17847009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz trigonocephaly syndrome	C syndrome	UNIPROT_DG	17847009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Opitz trigonocephaly syndrome	C syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	40660273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27626490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	26768331		★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	GWASCAT_DG	30487263		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36124532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35866671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	35769669	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35998045	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35997524, 36680216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35909123	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CD96 (CD96 molecule)