FADD (Fas associated via death domain)

Gene

• Entrez ID: 8772
• Gene name: Fas associated via death domain
• Gene symbol: FADD
• Synonyms: GIG3, IMD90, MORT1
• Chromosome: 11
• Chromosome location: 11q13.3
• Summary: The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis fact

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369869993	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs387906839	T>G	Pathogenic	Missense variant, coding sequence variant
rs863224871	AGCGAGC>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1392069885	G>A	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000638	hsa-miR-146a-5p	Luciferase reporter assay	19965651
MIRT006848	hsa-miR-155-5p	GFP reporter assay, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21706480
MIRT006848	hsa-miR-155-5p	GFP reporter assay, Immunohistochemistry, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21706480
MIRT023826	hsa-miR-1-3p	Microarray	18668037
MIRT025869	hsa-miR-7-5p	Sequencing	20371350
MIRT046456	hsa-miR-15b-5p	CLASH	23622248
MIRT736414	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT974914	hsa-miR-1178	CLIP-seq
MIRT974915	hsa-miR-1287	CLIP-seq
MIRT974916	hsa-miR-1288	CLIP-seq
MIRT974917	hsa-miR-28-5p	CLIP-seq
MIRT974918	hsa-miR-3135b	CLIP-seq
MIRT974919	hsa-miR-3139	CLIP-seq
MIRT974920	hsa-miR-3140-3p	CLIP-seq
MIRT974921	hsa-miR-3156-5p	CLIP-seq
MIRT974922	hsa-miR-3159	CLIP-seq
MIRT974923	hsa-miR-3169	CLIP-seq
MIRT974924	hsa-miR-320a	CLIP-seq
MIRT974925	hsa-miR-320b	CLIP-seq
MIRT974926	hsa-miR-320c	CLIP-seq
MIRT974927	hsa-miR-320d	CLIP-seq
MIRT974928	hsa-miR-3591-5p	CLIP-seq
MIRT974929	hsa-miR-3670	CLIP-seq
MIRT974930	hsa-miR-3681	CLIP-seq
MIRT974931	hsa-miR-382	CLIP-seq
MIRT974932	hsa-miR-4302	CLIP-seq
MIRT974933	hsa-miR-4429	CLIP-seq
MIRT974934	hsa-miR-4460	CLIP-seq
MIRT974935	hsa-miR-4462	CLIP-seq
MIRT974936	hsa-miR-4638-3p	CLIP-seq
MIRT974937	hsa-miR-4722-5p	CLIP-seq
MIRT974938	hsa-miR-4724-3p	CLIP-seq
MIRT974939	hsa-miR-4727-3p	CLIP-seq
MIRT974940	hsa-miR-4729	CLIP-seq
MIRT974941	hsa-miR-606	CLIP-seq
MIRT974942	hsa-miR-633	CLIP-seq
MIRT974943	hsa-miR-708	CLIP-seq
MIRT1988849	hsa-miR-1183	CLIP-seq
MIRT1988850	hsa-miR-128	CLIP-seq
MIRT1988851	hsa-miR-1343	CLIP-seq
MIRT1988852	hsa-miR-185	CLIP-seq
MIRT1988853	hsa-miR-1913	CLIP-seq
MIRT1988854	hsa-miR-193a-5p	CLIP-seq
MIRT1988855	hsa-miR-27a	CLIP-seq
MIRT1988856	hsa-miR-27b	CLIP-seq
MIRT1988857	hsa-miR-3074-5p	CLIP-seq
MIRT1988858	hsa-miR-3128	CLIP-seq
MIRT1988859	hsa-miR-323-5p	CLIP-seq
MIRT1988860	hsa-miR-324-3p	CLIP-seq
MIRT1988861	hsa-miR-3665	CLIP-seq
MIRT1988862	hsa-miR-3667-3p	CLIP-seq
MIRT1988863	hsa-miR-3688-3p	CLIP-seq
MIRT1988864	hsa-miR-3690	CLIP-seq
MIRT1988865	hsa-miR-370	CLIP-seq
MIRT1988866	hsa-miR-377	CLIP-seq
MIRT1988867	hsa-miR-378g	CLIP-seq
MIRT1988868	hsa-miR-3919	CLIP-seq
MIRT1988869	hsa-miR-3925-5p	CLIP-seq
MIRT1988870	hsa-miR-412	CLIP-seq
MIRT1988871	hsa-miR-4254	CLIP-seq
MIRT1988872	hsa-miR-4274	CLIP-seq
MIRT1988873	hsa-miR-4306	CLIP-seq
MIRT1988874	hsa-miR-4330	CLIP-seq
MIRT1988875	hsa-miR-4474-3p	CLIP-seq
MIRT1988876	hsa-miR-4519	CLIP-seq
MIRT1988877	hsa-miR-4524	CLIP-seq
MIRT1988878	hsa-miR-4527	CLIP-seq
MIRT1988879	hsa-miR-4644	CLIP-seq
MIRT1988880	hsa-miR-4645-5p	CLIP-seq
MIRT1988881	hsa-miR-4673	CLIP-seq
MIRT974938	hsa-miR-4724-3p	CLIP-seq
MIRT1988882	hsa-miR-4731-5p	CLIP-seq
MIRT1988883	hsa-miR-4738-3p	CLIP-seq
MIRT1988884	hsa-miR-4749-3p	CLIP-seq
MIRT1988885	hsa-miR-4756-3p	CLIP-seq
MIRT1988886	hsa-miR-512-3p	CLIP-seq
MIRT1988887	hsa-miR-512-5p	CLIP-seq
MIRT1988888	hsa-miR-513a-5p	CLIP-seq
MIRT1988889	hsa-miR-516a-3p	CLIP-seq
MIRT1988890	hsa-miR-548g	CLIP-seq
MIRT1988891	hsa-miR-589	CLIP-seq
MIRT1988850	hsa-miR-128	CLIP-seq
MIRT1988851	hsa-miR-1343	CLIP-seq
MIRT1988854	hsa-miR-193a-5p	CLIP-seq
MIRT1988855	hsa-miR-27a	CLIP-seq
MIRT1988856	hsa-miR-27b	CLIP-seq
MIRT2223236	hsa-miR-2861	CLIP-seq
MIRT2223237	hsa-miR-3065-3p	CLIP-seq
MIRT1988857	hsa-miR-3074-5p	CLIP-seq
MIRT2223238	hsa-miR-3160-3p	CLIP-seq
MIRT974928	hsa-miR-3591-5p	CLIP-seq
MIRT974929	hsa-miR-3670	CLIP-seq
MIRT974930	hsa-miR-3681	CLIP-seq
MIRT1988865	hsa-miR-370	CLIP-seq
MIRT2223239	hsa-miR-3921	CLIP-seq
MIRT1988870	hsa-miR-412	CLIP-seq
MIRT2223240	hsa-miR-4286	CLIP-seq
MIRT2223241	hsa-miR-4303	CLIP-seq
MIRT974934	hsa-miR-4460	CLIP-seq
MIRT2223242	hsa-miR-4487	CLIP-seq
MIRT2223243	hsa-miR-4653-5p	CLIP-seq
MIRT974939	hsa-miR-4727-3p	CLIP-seq
MIRT974940	hsa-miR-4729	CLIP-seq
MIRT1988882	hsa-miR-4731-5p	CLIP-seq
MIRT2223244	hsa-miR-4757-5p	CLIP-seq
MIRT1988886	hsa-miR-512-3p	CLIP-seq
MIRT1988887	hsa-miR-512-5p	CLIP-seq
MIRT1988888	hsa-miR-513a-5p	CLIP-seq
MIRT1988889	hsa-miR-516a-3p	CLIP-seq
MIRT2223245	hsa-miR-558	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DEDD	Unknown	17193921
RUNX3	Activation	17956589

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001916	Process	Positive regulation of T cell mediated cytotoxicity	ISS
GO:0002020	Function	Protease binding	IPI	9208847, 21785459
GO:0002821	Process	Positive regulation of adaptive immune response	ISS
GO:0005123	Function	Death receptor binding	IBA	21873635
GO:0005164	Function	Tumor necrosis factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	7536190, 7538907, 8681376, 9208847, 9343261, 10442631, 10880445, 11112409, 12702765, 12887920, 14612908, 15688372, 16127453, 16498403, 17047155, 17159907, 18328427, 18485876, 18846110, 19060883, 19118384, 19176810, 19524512, 19524513, 20103630, 20890306, 20935634, 21382479, 21458669
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	22510408
GO:0005829	Component	Cytosol	IDA	21785459
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	22510408
GO:0006915	Process	Apoptotic process	IMP	22891283
GO:0006919	Process	Activation of cysteine-type endopeptidase activity involved in apoptotic process	TAS
GO:0007166	Process	Cell surface receptor signaling pathway	TAS
GO:0008625	Process	Extrinsic apoptotic signaling pathway via death domain receptors	TAS	7538907
GO:0016032	Process	Viral process	IEA
GO:0031264	Component	Death-inducing signaling complex	IDA	11101870, 21803845
GO:0031264	Component	Death-inducing signaling complex	TAS	18309324
GO:0031265	Component	CD95 death-inducing signaling complex	IBA	21873635
GO:0031265	Component	CD95 death-inducing signaling complex	IDA	20935634
GO:0032729	Process	Positive regulation of interferon-gamma production	ISS
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	16127453
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IDA	16127453
GO:0032813	Function	Tumor necrosis factor receptor superfamily binding	IPI	21109225
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033612	Function	Receptor serine/threonine kinase binding	IEA
GO:0034138	Process	Toll-like receptor 3 signaling pathway	TAS
GO:0035666	Process	TRIF-dependent toll-like receptor signaling pathway	TAS
GO:0035877	Function	Death effector domain binding	IPI	11717445
GO:0036462	Process	TRAIL-activated apoptotic signaling pathway	IBA	21873635
GO:0036462	Process	TRAIL-activated apoptotic signaling pathway	IDA	21785459
GO:0042104	Process	Positive regulation of activated T cell proliferation	ISS
GO:0042802	Function	Identical protein binding	IPI	7536190, 8681376, 25502805, 30561431, 31515488, 32296183
GO:0043005	Component	Neuron projection	IEA
GO:0043029	Process	T cell homeostasis	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IDA	11821383
GO:0043065	Process	Positive regulation of apoptotic process	IMP	20935634
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IEP	12761501
GO:0043278	Process	Response to morphine	IEA
GO:0044297	Component	Cell body	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045651	Process	Positive regulation of macrophage differentiation	IMP	17047155
GO:0045862	Process	Positive regulation of proteolysis	IDA	18387192
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16127453
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048535	Process	Lymph node development	ISS
GO:0048536	Process	Spleen development	ISS
GO:0048538	Process	Thymus development	ISS
GO:0051607	Process	Defense response to virus	IMP	21109225
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IMP	21109225
GO:0060546	Process	Negative regulation of necroptotic process	IEA
GO:0070236	Process	Negative regulation of activation-induced cell death of T cells	ISS
GO:0071260	Process	Cellular response to mechanical stimulus	IEP	19593445
GO:0071550	Process	Death-inducing signaling complex assembly	TAS
GO:0089720	Function	Caspase binding	IBA	21873635
GO:0089720	Function	Caspase binding	IPI	9343261
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:0097190	Process	Apoptotic signaling pathway	IDA	11101870
GO:0097190	Process	Apoptotic signaling pathway	TAS
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IDA	21785459
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IMP	16611992
GO:0097191	Process	Extrinsic apoptotic signaling pathway	TAS	18309324
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0097202	Process	Activation of cysteine-type endopeptidase activity	IDA	18387192
GO:0097342	Component	Ripoptosome	IDA	21737330
GO:0097527	Process	Necroptotic signaling pathway	IMP	11101870
GO:1902041	Process	Regulation of extrinsic apoptotic signaling pathway via death domain receptors	TAS
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	TAS
GO:2000454	Process	Positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation	ISS
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IBA	21873635
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IMP	21525013

Other IDs

• MIM: 602457
• HGNC: 3573
• e!Ensembl: ENSG00000168040

Protein

• UniProt ID: Q13158
• Protein name: FAS-associated death domain protein (FAS-associating death domain-containing protein) (Growth-inhibiting gene 3 protein) (Mediator of receptor induced toxicity)
• Protein function: Apoptotic adapter molecule that recruits caspases CASP8 or CASP10 to the activated FAS/CD95 or TNFRSF1A/TNFR-1 receptors (PubMed:16762833, PubMed:19118384, PubMed:20935634, PubMed:23955153, PubMed:24025841, PubMed:7538907, PubMed:9184224). The r
• PDB: 1A1W, 1A1Z, 1E3Y, 1E41, 2GF5, 3EZQ, 3OQ9, 6ACI, 7LXC, 8YBX, 8YD7, 8YD8, 8YNI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01335	DED	4 → 85	Death effector domain	Domain
  PF00531	Death	98 → 181	Death domain	Domain

• Sequence:

  MDPFLVLLHSVSSSLSSSELTELKFLCLGRVGKRKLERVQSGLDLFSMLLEQNDLEPGHT
  ELLRELLASLRRHDLLRRVDDFEAGAAAGAAPGEEDLCAAFNVICDNVGKDWRRLARQLK
  VSDTKIDSIEDRYPRNLTERVRESLRIWKNTEKENATVAHLVGALRSCQMNLVADLVQEV
  QQARDLQNRSGAMSPMSWNSDASTSEAS

• Sequence length: 208

Pathways

KEGG:

Platinum drug resistance
Apoptosis
Apoptosis - multiple species
Necroptosis
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
IL-17 signaling pathway
TNF signaling pathway
Alcoholic liver disease
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Salmonella infection
Chagas disease
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

Reactome:

Caspase activation via Death Receptors in the presence of ligand
TRIF-mediated programmed cell death
Regulation by c-FLIP
RIPK1-mediated regulated necrosis
CASP8 activity is inhibited
TNFR1-induced proapoptotic signaling
Dimerization of procaspase-8
FasL/ CD95L signaling
TRAIL signaling
TLR3-mediated TICAM1-dependent programmed cell death
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Hearing loss	Sensorineural Hearing Loss (disorder), Sensory hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060	17656375
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebral atrophy	Cerebral atrophy
Congenital atresia of pulmonary artery	Congenital atresia of pulmonary artery
Dental diseases	Dental Diseases		17656375
Diverticular bleeding	Diverticular Bleeding		30177863
Diverticular diseases	Diverticular Diseases		30177863
Howell-jolly bodies	Howell-Jolly Bodies
Liver fibrosis	Fibrosis, Liver
Oculootodental syndrome	Oculootodental syndrome		17656375
Stomatognathic diseases	Stomatognathic Diseases		17656375