DDIT3 (DNA damage inducible transcript 3)

Gene

• Entrez ID: 1649
• Gene name: DNA damage inducible transcript 3
• Gene symbol: DDIT3
• Synonyms (NCBI Gene): AltDDIT3, C/EBPzeta, CEBPZ, CHOP, CHOP-10, CHOP10, GADD153
• Chromosome: 12
• Chromosome location: 12q13.3
• Summary: This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator prote

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016927	hsa-miR-335-5p	Microarray	18185580
MIRT023280	hsa-miR-122-5p	Other	21750653
MIRT027903	hsa-miR-96-5p	Sequencing	20371350
MIRT054455	hsa-miR-211-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24039954
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	20371350
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT512375	hsa-miR-633	PAR-CLIP	20371350
MIRT525507	hsa-miR-5692a	PAR-CLIP	22012620
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	22012620
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	22012620
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	22012620
MIRT512375	hsa-miR-633	PAR-CLIP	22012620
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	23446348
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	23446348
MIRT512375	hsa-miR-633	PAR-CLIP	23446348
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	26701625
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	26701625
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	26701625
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	26701625
MIRT512375	hsa-miR-633	PAR-CLIP	26701625
MIRT512375	hsa-miR-633	PAR-CLIP	26701625
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	26701625
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	27292025
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	27292025
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	27292025
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	27292025
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	27292025
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	27292025
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	27292025
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	27292025
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	27292025
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	27292025
MIRT512375	hsa-miR-633	PAR-CLIP	27292025
MIRT512375	hsa-miR-633	PAR-CLIP	27292025
MIRT512375	hsa-miR-633	PAR-CLIP	27292025
MIRT512375	hsa-miR-633	PAR-CLIP	27292025
MIRT512375	hsa-miR-633	PAR-CLIP	27292025
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	27292025
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	27292025
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	27292025
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	27292025
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	27292025
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	20371350
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	20371350
MIRT512375	hsa-miR-633	PAR-CLIP	20371350
MIRT525507	hsa-miR-5692a	PAR-CLIP	22012620
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	22012620
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	22012620
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	22012620
MIRT512375	hsa-miR-633	PAR-CLIP	22012620
MIRT512378	hsa-miR-7845-5p	PAR-CLIP	23446348
MIRT512377	hsa-miR-135a-3p	PAR-CLIP	23446348
MIRT512376	hsa-miR-4645-3p	PAR-CLIP	23446348
MIRT512375	hsa-miR-633	PAR-CLIP	23446348
MIRT929252	hsa-miR-216b	CLIP-seq
MIRT929253	hsa-miR-224	CLIP-seq
MIRT929254	hsa-miR-3675-3p	CLIP-seq
MIRT929255	hsa-miR-376a	CLIP-seq
MIRT929256	hsa-miR-376b	CLIP-seq
MIRT1975173	hsa-miR-199a-3p	CLIP-seq
MIRT1975174	hsa-miR-199b-3p	CLIP-seq
MIRT1975175	hsa-miR-3129-5p	CLIP-seq
MIRT1975176	hsa-miR-936	CLIP-seq
MIRT2210530	hsa-miR-1271	CLIP-seq
MIRT2210531	hsa-miR-1275	CLIP-seq
MIRT2210532	hsa-miR-142-3p	CLIP-seq
MIRT2210533	hsa-miR-299-3p	CLIP-seq
MIRT2210534	hsa-miR-3132	CLIP-seq
MIRT2210535	hsa-miR-3136-3p	CLIP-seq
MIRT2210536	hsa-miR-3153	CLIP-seq
MIRT2210537	hsa-miR-3174	CLIP-seq
MIRT2210538	hsa-miR-3192	CLIP-seq
MIRT2210539	hsa-miR-3199	CLIP-seq
MIRT2210540	hsa-miR-4314	CLIP-seq
MIRT2210541	hsa-miR-4447	CLIP-seq
MIRT2210542	hsa-miR-4472	CLIP-seq
MIRT2210543	hsa-miR-4491	CLIP-seq
MIRT2210544	hsa-miR-4525	CLIP-seq
MIRT2210545	hsa-miR-4646-5p	CLIP-seq
MIRT2210546	hsa-miR-4648	CLIP-seq
MIRT2210547	hsa-miR-4652-5p	CLIP-seq
MIRT2210548	hsa-miR-4654	CLIP-seq
MIRT2210549	hsa-miR-4657	CLIP-seq
MIRT2210550	hsa-miR-4665-5p	CLIP-seq
MIRT2210551	hsa-miR-4668-5p	CLIP-seq
MIRT2210552	hsa-miR-4723-5p	CLIP-seq
MIRT2210553	hsa-miR-4740-5p	CLIP-seq
MIRT2210554	hsa-miR-4769-5p	CLIP-seq
MIRT2210555	hsa-miR-625	CLIP-seq
MIRT2210556	hsa-miR-644	CLIP-seq
MIRT2210557	hsa-miR-648	CLIP-seq
MIRT2210558	hsa-miR-663b	CLIP-seq
MIRT2210559	hsa-miR-921	CLIP-seq
MIRT2210560	hsa-miR-96	CLIP-seq
MIRT2210530	hsa-miR-1271	CLIP-seq
MIRT2210532	hsa-miR-142-3p	CLIP-seq
MIRT1975173	hsa-miR-199a-3p	CLIP-seq
MIRT1975174	hsa-miR-199b-3p	CLIP-seq
MIRT2210533	hsa-miR-299-3p	CLIP-seq
MIRT2514511	hsa-miR-3124-3p	CLIP-seq
MIRT1975175	hsa-miR-3129-5p	CLIP-seq
MIRT2210534	hsa-miR-3132	CLIP-seq
MIRT2210535	hsa-miR-3136-3p	CLIP-seq
MIRT2514512	hsa-miR-3145-5p	CLIP-seq
MIRT2210536	hsa-miR-3153	CLIP-seq
MIRT2210537	hsa-miR-3174	CLIP-seq
MIRT2210538	hsa-miR-3192	CLIP-seq
MIRT2514513	hsa-miR-3193	CLIP-seq
MIRT2514514	hsa-miR-3614-3p	CLIP-seq
MIRT2514515	hsa-miR-3618	CLIP-seq
MIRT2514516	hsa-miR-3679-3p	CLIP-seq
MIRT2514517	hsa-miR-4297	CLIP-seq
MIRT2210540	hsa-miR-4314	CLIP-seq
MIRT2210543	hsa-miR-4491	CLIP-seq
MIRT2210545	hsa-miR-4646-5p	CLIP-seq
MIRT2210546	hsa-miR-4648	CLIP-seq
MIRT2210548	hsa-miR-4654	CLIP-seq
MIRT2210549	hsa-miR-4657	CLIP-seq
MIRT2210551	hsa-miR-4668-5p	CLIP-seq
MIRT2210554	hsa-miR-4769-5p	CLIP-seq
MIRT2514518	hsa-miR-4786-5p	CLIP-seq
MIRT2514519	hsa-miR-508-5p	CLIP-seq
MIRT2210556	hsa-miR-644	CLIP-seq
MIRT2210557	hsa-miR-648	CLIP-seq
MIRT2210558	hsa-miR-663b	CLIP-seq
MIRT2514520	hsa-miR-769-5p	CLIP-seq
MIRT2210559	hsa-miR-921	CLIP-seq
MIRT2514521	hsa-miR-934	CLIP-seq
MIRT1975176	hsa-miR-936	CLIP-seq
MIRT2210560	hsa-miR-96	CLIP-seq
MIRT1975173	hsa-miR-199a-3p	CLIP-seq
MIRT1975174	hsa-miR-199b-3p	CLIP-seq
MIRT2210533	hsa-miR-299-3p	CLIP-seq
MIRT2514511	hsa-miR-3124-3p	CLIP-seq
MIRT1975175	hsa-miR-3129-5p	CLIP-seq
MIRT2210534	hsa-miR-3132	CLIP-seq
MIRT2514512	hsa-miR-3145-5p	CLIP-seq
MIRT2210536	hsa-miR-3153	CLIP-seq
MIRT2210537	hsa-miR-3174	CLIP-seq
MIRT2210538	hsa-miR-3192	CLIP-seq
MIRT2514513	hsa-miR-3193	CLIP-seq
MIRT2514514	hsa-miR-3614-3p	CLIP-seq
MIRT2514515	hsa-miR-3618	CLIP-seq
MIRT2514516	hsa-miR-3679-3p	CLIP-seq
MIRT2514517	hsa-miR-4297	CLIP-seq
MIRT2210540	hsa-miR-4314	CLIP-seq
MIRT2210543	hsa-miR-4491	CLIP-seq
MIRT2210545	hsa-miR-4646-5p	CLIP-seq
MIRT2210546	hsa-miR-4648	CLIP-seq
MIRT2210548	hsa-miR-4654	CLIP-seq
MIRT2210549	hsa-miR-4657	CLIP-seq
MIRT2210551	hsa-miR-4668-5p	CLIP-seq
MIRT2210554	hsa-miR-4769-5p	CLIP-seq
MIRT2514518	hsa-miR-4786-5p	CLIP-seq
MIRT2514519	hsa-miR-508-5p	CLIP-seq
MIRT2514520	hsa-miR-769-5p	CLIP-seq
MIRT2210559	hsa-miR-921	CLIP-seq
MIRT2514521	hsa-miR-934	CLIP-seq
MIRT1975176	hsa-miR-936	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF3	Activation	22753726
ATF4	Activation	16246168;17276738;20020050;21044953;21966512
ATF4	Unknown	17455323;22691366
ATF6	Unknown	17455323
BRCA1	Activation	21700680
CEBPB	Unknown	16757577
CEBPD	Activation	20971808
CEBPD	Repression	22347430
E2F1	Unknown	20971808
FOS	Activation	20188076
FUS	Activation	11162437
JDP2	Repression	18396163
JUN	Activation	22622069
NFYA	Unknown	20023394
RB1	Unknown	20971808
STAT3	Repression	23288901
XBP1	Unknown	17455323

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18940792
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IGI	11478948
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS	16434966
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IC	15322075
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	24939851
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	22065586
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	21873635
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	22065586
GO:0001955	Process	Blood vessel maturation	IEA
GO:0003677	Function	DNA binding	IDA	14667815, 18940792
GO:0003700	Function	DNA-binding transcription factor activity	IC	15322075
GO:0003700	Function	DNA-binding transcription factor activity	IGI	24939851
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005515	Function	Protein binding	IPI	15775988, 16189514, 17872950, 18330356, 18940792, 20102225, 20562859, 20829347, 22761832, 27107012, 29997244, 31467278, 32296183, 32814053, 32911434
GO:0005634	Component	Nucleus	IDA	11478948, 15322075, 20829347, 22761832
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	NAS	15775988
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	TAS	14685163
GO:0006355	Process	Regulation of transcription, DNA-templated	IMP	17872950, 22761832
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	14667815
GO:0006974	Process	Cellular response to DNA damage stimulus	TAS	1339368
GO:0006983	Process	ER overload response	IBA	21873635
GO:0006986	Process	Response to unfolded protein	IDA	18940792
GO:0007050	Process	Cell cycle arrest	IDA	22496745
GO:0007605	Process	Sensory perception of sound	IEA
GO:0008134	Function	Transcription factor binding	IBA	21873635
GO:0008134	Function	Transcription factor binding	IPI	16434966
GO:0008140	Function	CAMP response element binding protein binding	IPI	11478948
GO:0008140	Function	CAMP response element binding protein binding	ISS
GO:0009948	Process	Anterior/posterior axis specification	ISS	16434966
GO:0010506	Process	Regulation of autophagy	ISS
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	ISS
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	24038088
GO:0032689	Process	Negative regulation of interferon-gamma production	IMP	24038088
GO:0032700	Process	Negative regulation of interleukin-17 production	IMP	24038088
GO:0032713	Process	Negative regulation of interleukin-4 production	IMP	24038088
GO:0032757	Process	Positive regulation of interleukin-8 production	IMP	20829347
GO:0032792	Process	Negative regulation of CREB transcription factor activity	IBA	21873635
GO:0032792	Process	Negative regulation of CREB transcription factor activity	IDA	8622660
GO:0032792	Process	Negative regulation of CREB transcription factor activity	IGI	11478948
GO:0032993	Component	Protein-DNA complex	IDA	15322075
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	18940792, 19061639, 20829347
GO:0036488	Component	CHOP-C/EBP complex	IBA	21873635
GO:0036488	Component	CHOP-C/EBP complex	ISS
GO:0036488	Component	CHOP-C/EBP complex	TAS	14685163
GO:0036499	Process	PERK-mediated unfolded protein response	TAS	14685163, 22934019
GO:0036500	Process	ATF6-mediated unfolded protein response	TAS	22934019
GO:0042594	Process	Response to starvation	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	18534616
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	17872950
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	16434966
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IMP	18534616
GO:0043522	Function	Leucine zipper domain binding	IDA	8622660, 11478948
GO:0043525	Process	Positive regulation of neuron apoptotic process	IC	22761832
GO:0043525	Process	Positive regulation of neuron apoptotic process	ISS
GO:0043618	Process	Regulation of transcription from RNA polymerase II promoter in response to stress	TAS	19816510
GO:0045454	Process	Cell redox homeostasis	IDA	14667815
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	18940792
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	15322075, 15775988
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22065586
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	22065586
GO:0046982	Function	Protein heterodimerization activity	IBA	21873635
GO:0046982	Function	Protein heterodimerization activity	IPI	8622660
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IMP	18534616
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	ISS
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051898	Process	Negative regulation of protein kinase B signaling	IMP	22761832
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IBA	21873635
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA	18940792, 20829347
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP	15322075
GO:0070059	Process	Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	TAS	14685163, 22934019
GO:0072655	Process	Establishment of protein localization to mitochondrion	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS	16434966
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	26370079
GO:0140416	Function	Transcription regulator inhibitor activity	ISS
GO:1902237	Process	Positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IC	22761832
GO:1903026	Process	Negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IDA	8622660
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IBA	21873635
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IDA	15322075, 24939851
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IGI	15775988
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IMP	22761832
GO:1990440	Process	Positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	ISS
GO:1990442	Process	Intrinsic apoptotic signaling pathway in response to nitrosative stress	IEA
GO:1990617	Component	CHOP-ATF4 complex	IBA	21873635
GO:1990617	Component	CHOP-ATF4 complex	IDA	11478948
GO:1990617	Component	CHOP-ATF4 complex	IPI	18940792
GO:1990622	Component	CHOP-ATF3 complex	IBA	21873635
GO:1990622	Component	CHOP-ATF3 complex	IDA	8622660
GO:2000016	Process	Negative regulation of determination of dorsal identity	IDA	16434966
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IBA	21873635
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IMP	27031958

Other IDs

• MIM: 126337
• HGNC: 2726
• e!Ensembl: ENSG00000175197

Protein

• UniProt ID: P0DPQ6
• Protein name: DDIT3 upstream open reading frame protein (Alternative DDIT3 protein) (AltDDIT3)
• Protein function: [Isoform AltDDIT3]: Product of the upstream open reading frame (uORF) of DDIT3/CHOP that is specifically produced in absence of stress, thereby preventing translation of downstream stress effector DDIT3/CHOP.
• Sequence:

  MLKMSGWQRQSQNQSWNLRRECSRRKCIFIHHHT

• Sequence length: 34
• UniProt ID: P35638
• Protein name: DNA damage-inducible transcript 3 protein (DDIT-3) (C/EBP zeta) (C/EBP-homologous protein) (CHOP) (C/EBP-homologous protein 10) (CHOP-10) (CCAAT/enhancer-binding protein homologous protein) (Growth arrest and DNA damage-inducible protein GADD153)
• Protein function: Multifunctional transcription factor in endoplasmic reticulum (ER) stress response (PubMed:15322075, PubMed:15775988, PubMed:19672300). Plays an essential role in the response to a wide variety of cell stresses and induces cell cycle arrest and
• Sequence:

  MAAESLPFSFGTLSSWELEAWYEDLQEVLSSDENGGTYVSPPGNEEEESKIFTTLDPASL
  AWLTEEEPEPAEVTSTSQSPHSPDSSQSSLAQEEEEEDQGRTRKRKQSGHSPARAGKQRM
  KEKEQENERKVAQLAEENERLKQEIERLTREVEATRRALIDRMVNLHQA

• Sequence length: 169

Pathways

KEGG:

MAPK signaling pathway
Protein processing in endoplasmic reticulum
Apoptosis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Prion disease
Pathways of neurodegeneration - multiple diseases
Transcriptional misregulation in cancer
Lipid and atherosclerosis

Reactome:

FOXO-mediated transcription of cell death genes

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	14604972
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	14604972
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25724174
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent, Diabetes Mellitus, Ketosis-Prone, Diabetes Mellitus, Sudden-Onset	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	23499715
Glaucoma	Glaucoma, Suspect	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644	24691439
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	14604972
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	26655953

Unknown
Disease term	Disease name	Evidence	References	Source
Myocardial infarction	Myocardial Infarction		25450231	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis	Associate	23613998
Acidosis	Stimulate	28134810
Adenocarcinoma Follicular	Associate	15085203
Adenocarcinoma of Lung	Associate	29676829, 33361736, 38131250
Adenoma	Associate	15085203, 22157935, 26066753
Adrenoleukodystrophy	Associate	28666219
Albuminuria	Inhibit	34414940
Alzheimer Disease	Stimulate	17712163
Alzheimer Disease	Associate	34153352
Anemia	Associate	36494342
Angiomyolipoma	Associate	22791333
Aortic Aneurysm Abdominal	Associate	31239294
Arthritis Rheumatoid	Associate	20122151, 36243930, 36675245, 37862122
Atherosclerosis	Associate	24205197, 28081747
Autistic Disorder	Associate	29761862
Bacterial Infections	Associate	27771295
Breast Neoplasms	Associate	11297545, 21741997, 22200786, 28459209, 35662627, 37685841
Burkitt Lymphoma	Associate	20723265
Carcinoma Hepatocellular	Associate	12138118, 23658755, 23973991, 24525736, 25032846, 26917416, 27821810, 29921924, 32332695, 34123711, 35389768, 36925047, 37326827, 39273406
Carcinoma Non Small Cell Lung	Associate	21801305, 27184816, 27599983, 32118311
Carcinoma Ovarian Epithelial	Associate	34839022
Carcinoma Pancreatic Ductal	Associate	25199538
Cardiomyopathy Familial Hypertrophic 1	Stimulate	27432584
Cardiovascular Diseases	Associate	36012132
Carnevale syndrome	Associate	7592643
Cerebral Infarction	Associate	35856366
Colitis Ulcerative	Associate	35185383
Colorectal Neoplasms	Associate	18534616, 22922338, 30359552, 30426213, 33004975, 34088951, 36585626, 36941538
Coronary Disease	Associate	35619068
COVID 19	Associate	37283761
Craniocerebral Trauma	Stimulate	39881366
Crohn Disease	Stimulate	31557250
Cystic Fibrosis	Associate	17709599
Death	Associate	16942595, 21091652
Depressive Disorder Major	Stimulate	24703171
Diabetes Mellitus	Associate	22403299, 34140543
Diabetes Mellitus Type 1	Stimulate	22699564
Diabetes Mellitus Type 2	Associate	19558691, 25511473
Diabetes Mellitus Type 2	Inhibit	34414940
Diabetic Nephropathies	Associate	34414940, 37038746
Drug Related Side Effects and Adverse Reactions	Associate	22200786, 27039295, 28991167, 31524237
Drug Related Side Effects and Adverse Reactions	Stimulate	27026200, 35231164
Dry Eye Syndromes	Stimulate	35562919
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	36494342
Dyskinesia Drug Induced	Stimulate	28193519
Endometrial Neoplasms	Associate	23200913, 31718641
Enterocolitis Necrotizing	Stimulate	24194940
Esophageal Squamous Cell Carcinoma	Associate	24936140
Fetal Growth Retardation	Associate	39618207
Fibrosis	Associate	35165522
Focal Cortical Dysplasia	Associate	36258150
Ganglion Cysts	Associate	25650275
Glioblastoma	Associate	29538296, 31390836, 39652629
Glomerulonephritis Membranous	Associate	32733636
Glucose Intolerance	Inhibit	32086613
Head and Neck Neoplasms	Associate	34306318
Hearing Loss Sensorineural	Stimulate	33170831
Heart Failure	Stimulate	24036084
Hepatitis Alcoholic	Associate	27432584
HIV Infections	Stimulate	18698365
Hodgkin Disease	Associate	21062387
Hypoxia	Stimulate	14604972, 27244197
Hypoxia	Inhibit	16942595
Hypoxia	Associate	19018773, 29749460
Hypoxia Brain	Associate	19018773
Idiopathic Pulmonary Fibrosis	Associate	18635891, 37978501
Infections	Associate	27771295, 32284364, 32369565, 36768954
Inflammation	Associate	27771295, 28860664, 32534478, 36012132
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma	Associate	20226437
Leiomyoma	Associate	17652152
Leukemia	Associate	33560385, 34032336
Leukemia B Cell	Associate	27737889
Leukemia Lymphocytic Chronic B Cell	Associate	20628148, 27026200
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	20492726
Leukemia Myeloid	Associate	25321472
Leukemia Myeloid Acute	Associate	15308577, 34376804
Leukoencephalopathies	Associate	31691183
Leukopenia	Associate	33280276
Lipoblastoma	Associate	29976943
Lipoma	Associate	25650275
Liposarcoma	Associate	11278855, 12168660, 18517278, 18820664, 19037998, 22588557, 26604682, 30420727, 34089125, 37205634, 40540926, 7592643
Liposarcoma Myxoid	Associate	11229517, 11278855, 12168660, 12169678, 12876210, 18517278, 18820664, 20017906, 20581806, 20863376, 22523595, 22588557, 25393000, 27158758, 29588491, 29976943, 30420727, 32341520, 32815829, 33731886, 34089125, 34168281, 34357401, 34385184, 34971481, 35933574, 36379683, 40540926, 7485386, 8921363
Lung Neoplasms	Associate	21150337, 25770212, 27931220, 30332761, 36521248, 36864513
Lupus Erythematosus Systemic	Associate	26090483, 36114579, 38013304
Lymphatic Metastasis	Associate	27599983
Lymphoma Large B Cell Diffuse	Inhibit	12576316, 16609067, 22437443, 25760242, 26475474
Lymphoma Large B Cell Diffuse	Associate	16704435, 31801186, 37235754
Lymphoma Primary Effusion	Associate	31366879
Lymphoma T Cell Peripheral	Inhibit	36796016
Malformations of Cortical Development Group I	Associate	36431966, 39273406
Malnutrition	Associate	31398886
Melanoma	Associate	30550954
Meningioma	Associate	37515398
Mesothelioma Malignant	Associate	23412101, 29748013
Metabolic Syndrome	Stimulate	21633399, 27895089
Microphthalmia syndromic 7	Associate	12169678, 19037998, 20017906, 25393000, 25650275
Mitochondrial Diseases	Associate	21368884, 33837631, 34306318
Mucolipidoses	Associate	21727211
Multiple Myeloma	Associate	19779717, 26636288, 30824741, 32070879, 32878237
Multiple Sclerosis	Stimulate	32640422
Myelodysplastic Syndromes	Stimulate	36494342
Nasopharyngeal Carcinoma	Associate	25607111
Necrosis	Associate	39881366
Neointima	Associate	31706299
Neoplasm Metastasis	Inhibit	21741997
Neoplasm Metastasis	Associate	35668504
Neoplasms	Associate	12138118, 12888831, 15085203, 17353921, 20686221, 21179554, 22496745, 23200913, 23288901, 24085196, 24287694, 25232957, 26036639, 26116180, 26283179, 27255164, 27599983, 29588491, 30649790, 30764601, 31255796, 32070879, 32722598, 34385184, 36379683, 37685841
Neoplasms	Stimulate	23559006
Nerve Degeneration	Associate	23861942, 25234470
Neuroblastoma	Associate	16942595
Neurodegenerative Diseases	Associate	22496745
Obesity	Associate	19558691, 32086613
Obesity	Stimulate	27481183
Obesity Maternal	Stimulate	30006153
Osteoarthritis	Associate	37283761, 38090564
Osteoarthritis	Inhibit	38175691
Ovarian Neoplasms	Stimulate	27233943
Ovarian Neoplasms	Associate	27729194, 35668504
Overweight	Stimulate	27481183
Pancreatic Neoplasms	Associate	14669326, 35656858
Personality Disorders	Stimulate	25170122
Pheochromocytoma	Associate	32571297
Poisoning	Associate	23280445
Polycystic Ovary Syndrome	Associate	35288480
Pre Eclampsia	Stimulate	25675914
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	26275811
Prostatic Neoplasms	Associate	34358932
Psychological Distress	Associate	26090483
Rhabdomyosarcoma	Associate	27450084
Riboflavin Deficiency	Stimulate	36014863
Sarcoma	Associate	20017906, 30040819, 31232935, 34385184, 7592643
Sarcoma Ewing	Associate	7485386
Small Cell Lung Carcinoma	Associate	30123071
Spinal Muscular Atrophies of Childhood	Associate	31381526
Squamous Cell Carcinoma of Head and Neck	Stimulate	24964091
Stomach Neoplasms	Associate	29587440, 33393595
Takotsubo Cardiomyopathy	Associate	32577989
Thymoma	Associate	33277874
Thyroid Neoplasms	Associate	22691366, 30272326
Thyroiditis	Associate	22157935
Tooth Loss	Associate	32733636
Triple Negative Breast Neoplasms	Associate	26116180
Tuberculosis Multidrug Resistant	Associate	32118311
Urethral Neoplasms	Associate	22438966
Urinary Incontinence Stress	Stimulate	30426803
Uterine Cervical Neoplasms	Associate	17970084, 36431966
Vascular Diseases	Associate	30006153
Virus Diseases	Stimulate	31366879
Vitamin D Deficiency	Associate	23012375