CD96 (CD96 molecule)

Gene

• 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

SNPs

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

miRNA

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 assay, Western blotting, qRT-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

Gene ontology (GO)

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
GO:0005887	Component	Integral component of plasma membrane	TAS	1313846
GO:0006954	Process	Inflammatory response	IBA	21873635
GO:0006955	Process	Immune response	TAS	1313846
GO:0007155	Process	Cell adhesion	TAS	1313846
GO:0007160	Process	Cell-matrix adhesion	IBA	21873635
GO:0007160	Process	Cell-matrix adhesion	IDA	17847009
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032689	Process	Negative regulation of interferon-gamma production	IEA
GO:0050776	Process	Regulation of immune response	TAS

Other IDs

• MIM: 606037
• HGNC: 16892
• e!Ensembl: ENSG00000153283

Protein

• UniProt ID: 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
• 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

Pathways

Reactome:

Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
C syndrome	C syndrome, Opitz trigonocephaly syndrome	rs119477056	26768331, 17847009, 19449408
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	rs121908602, rs121908604, rs864309713, rs775394591
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	26768331
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease		21685187	ClinVar
Crohn disease	Crohn Disease		31043678	ClinVar
Trigonocephaly	Trigonocephaly			ClinVar
Metabolic Syndrome	Metabolic Syndrome			GWAS
Dementia	Dementia			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	35946526
Angina Pectoris	Inhibit	26823790
Breast Neoplasms	Associate	30947698
Carcinogenesis	Associate	36043142
Colorectal Neoplasms	Associate	30383736
Connective Tissue Diseases	Associate	22208759
Drug Related Side Effects and Adverse Reactions	Stimulate	23272144
Dwarfism Pituitary	Associate	40660273
Fibromyalgia	Associate	34913882
Genetic Diseases Inborn	Associate	22208759
Glioma	Associate	32612110
Growth Disorders	Associate	40660273
HEM dysplasia	Associate	40660273
Hepatitis B	Associate	23272144
Heredodegenerative Disorders Nervous System	Associate	22208759
Hypersensitivity Delayed	Associate	40660273
Infections	Associate	33717085
Ischemic Attack Transient	Associate	39919905
Leukemia	Associate	21856272, 22879978
Leukemia Myeloid Acute	Associate	20662087, 22879978, 23233446, 28391288, 29720577, 39582863
Lymphatic Metastasis	Inhibit	27626490
Lymphoma Large B Cell Diffuse	Associate	36281462
Melanoma	Associate	30761123, 36043142
Melanoma Cutaneous Malignant	Stimulate	36043142
Musculoskeletal Diseases	Associate	40660273
Myelodysplastic Syndromes	Associate	20662087
Myocardial Infarction	Inhibit	26823790
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	22208759
Nasopharyngeal Carcinoma	Associate	36438903
Neoplasms	Inhibit	27626490
Neoplasms	Associate	30908480, 35997524, 35998045, 36043142
Neoplastic Syndromes Hereditary	Associate	30947698
Osteochondrodysplasias	Associate	40660273
Pancreatic Neoplasms	Associate	27626490
Prostatic Neoplasms	Associate	36124532
Pulmonary Disease Chronic Obstructive	Associate	35866671
Spondylitis Ankylosing	Associate	35769669
Squamous Cell Carcinoma of Head and Neck	Associate	35998045
Stomach Neoplasms	Associate	35997524, 36680216
Urinary Bladder Neoplasms	Associate	35909123