RNF135 (ring finger protein 135)

Gene

• Entrez ID: 84282
• Gene name: Ring finger protein 135
• Gene symbol: RNF135
• Synonyms: L13, MMFD, REUL, Riplet
• Chromosome: 17
• Chromosome location: 17q11.2
• Summary: The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs724159978	G>-	Pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, frameshift variant, downstream transcript variant, non coding transcript variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT642861	hsa-miR-3174	HITS-CLIP	23824327
MIRT642860	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT642859	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT642858	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT642857	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT642856	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT642855	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT642854	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT642853	hsa-miR-612	HITS-CLIP	23824327
MIRT642852	hsa-miR-6860	HITS-CLIP	23824327
MIRT642851	hsa-miR-661	HITS-CLIP	23824327
MIRT642850	hsa-miR-921	HITS-CLIP	23824327
MIRT145446	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT145450	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT145448	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT145449	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT145451	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT642861	hsa-miR-3174	HITS-CLIP	23824327
MIRT642860	hsa-miR-4714-3p	HITS-CLIP	23824327
MIRT642859	hsa-miR-1226-3p	HITS-CLIP	23824327
MIRT642858	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT642857	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT642856	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT642855	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT642854	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT642853	hsa-miR-612	HITS-CLIP	23824327
MIRT642852	hsa-miR-6860	HITS-CLIP	23824327
MIRT642851	hsa-miR-661	HITS-CLIP	23824327
MIRT642850	hsa-miR-921	HITS-CLIP	23824327
MIRT1309981	hsa-miR-1226	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309983	hsa-miR-124	CLIP-seq
MIRT1309984	hsa-miR-1273e	CLIP-seq
MIRT1309985	hsa-miR-1285	CLIP-seq
MIRT1309986	hsa-miR-1288	CLIP-seq
MIRT1309987	hsa-miR-23a	CLIP-seq
MIRT1309988	hsa-miR-23b	CLIP-seq
MIRT1309989	hsa-miR-23c	CLIP-seq
MIRT1309990	hsa-miR-24	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT1309992	hsa-miR-3169	CLIP-seq
MIRT1309993	hsa-miR-3185	CLIP-seq
MIRT1309994	hsa-miR-3187-3p	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309996	hsa-miR-342-3p	CLIP-seq
MIRT1309997	hsa-miR-3622b-5p	CLIP-seq
MIRT1309998	hsa-miR-3672	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310001	hsa-miR-3908	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310003	hsa-miR-3934	CLIP-seq
MIRT1310004	hsa-miR-3974	CLIP-seq
MIRT1310005	hsa-miR-4284	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310007	hsa-miR-4435	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310009	hsa-miR-4642	CLIP-seq
MIRT1310010	hsa-miR-4668-3p	CLIP-seq
MIRT1310011	hsa-miR-4701-5p	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310013	hsa-miR-4733-5p	CLIP-seq
MIRT1310014	hsa-miR-4786-5p	CLIP-seq
MIRT1310015	hsa-miR-4793-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT1310017	hsa-miR-486-5p	CLIP-seq
MIRT1310018	hsa-miR-506	CLIP-seq
MIRT1310019	hsa-miR-545	CLIP-seq
MIRT1310020	hsa-miR-548ag	CLIP-seq
MIRT1310021	hsa-miR-548ai	CLIP-seq
MIRT1310022	hsa-miR-548an	CLIP-seq
MIRT1310023	hsa-miR-548s	CLIP-seq
MIRT1310024	hsa-miR-588	CLIP-seq
MIRT1310025	hsa-miR-630	CLIP-seq
MIRT1310026	hsa-miR-769-5p	CLIP-seq
MIRT1553139	hsa-miR-488	CLIP-seq
MIRT1553140	hsa-miR-556-3p	CLIP-seq
MIRT1553141	hsa-miR-582-5p	CLIP-seq
MIRT1309981	hsa-miR-1226	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309985	hsa-miR-1285	CLIP-seq
MIRT2092059	hsa-miR-147	CLIP-seq
MIRT2092060	hsa-miR-150	CLIP-seq
MIRT2092061	hsa-miR-155	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT2092062	hsa-miR-3675-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310001	hsa-miR-3908	CLIP-seq
MIRT2092063	hsa-miR-3911	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT2092064	hsa-miR-4474-3p	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT2092065	hsa-miR-4713-5p	CLIP-seq
MIRT2092066	hsa-miR-4720-3p	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT2092067	hsa-miR-4804-3p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT1553139	hsa-miR-488	CLIP-seq
MIRT2092068	hsa-miR-532-3p	CLIP-seq
MIRT1553140	hsa-miR-556-3p	CLIP-seq
MIRT1553141	hsa-miR-582-5p	CLIP-seq
MIRT2092069	hsa-miR-644	CLIP-seq
MIRT1309981	hsa-miR-1226	CLIP-seq
MIRT1309983	hsa-miR-124	CLIP-seq
MIRT1309985	hsa-miR-1285	CLIP-seq
MIRT2316543	hsa-miR-146a	CLIP-seq
MIRT2316544	hsa-miR-146b-5p	CLIP-seq
MIRT2316545	hsa-miR-198	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT2316546	hsa-miR-3119	CLIP-seq
MIRT2316547	hsa-miR-3135	CLIP-seq
MIRT2316548	hsa-miR-3158-3p	CLIP-seq
MIRT1309993	hsa-miR-3185	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310001	hsa-miR-3908	CLIP-seq
MIRT2316549	hsa-miR-3925-5p	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310004	hsa-miR-3974	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310010	hsa-miR-4668-3p	CLIP-seq
MIRT2316550	hsa-miR-4685-5p	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT1553139	hsa-miR-488	CLIP-seq
MIRT1310018	hsa-miR-506	CLIP-seq
MIRT1310019	hsa-miR-545	CLIP-seq
MIRT1310020	hsa-miR-548ag	CLIP-seq
MIRT1310021	hsa-miR-548ai	CLIP-seq
MIRT1310022	hsa-miR-548an	CLIP-seq
MIRT1553140	hsa-miR-556-3p	CLIP-seq
MIRT1553141	hsa-miR-582-5p	CLIP-seq
MIRT1310014	hsa-miR-4786-5p	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT1309981	hsa-miR-1226	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309985	hsa-miR-1285	CLIP-seq
MIRT1309986	hsa-miR-1288	CLIP-seq
MIRT2612578	hsa-miR-217	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT2612579	hsa-miR-3136-3p	CLIP-seq
MIRT1309992	hsa-miR-3169	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT2612580	hsa-miR-3922-5p	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT2612581	hsa-miR-4418	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq
MIRT2612582	hsa-miR-509-3-5p	CLIP-seq
MIRT2612583	hsa-miR-509-5p	CLIP-seq
MIRT1309982	hsa-miR-1228	CLIP-seq
MIRT1309991	hsa-miR-3065-3p	CLIP-seq
MIRT1309992	hsa-miR-3169	CLIP-seq
MIRT1309995	hsa-miR-3189-3p	CLIP-seq
MIRT1309999	hsa-miR-3689a-3p	CLIP-seq
MIRT1310000	hsa-miR-3689c	CLIP-seq
MIRT1310002	hsa-miR-3929	CLIP-seq
MIRT1310006	hsa-miR-4419b	CLIP-seq
MIRT1310008	hsa-miR-4478	CLIP-seq
MIRT1310012	hsa-miR-4728-5p	CLIP-seq
MIRT1310016	hsa-miR-485-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IDA	31006531
GO:0004842	Function	Ubiquitin-protein transferase activity	IBA	21873635
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	19484123
GO:0005515	Function	Protein binding	IPI	19017631, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	19484123
GO:0005829	Component	Cytosol	TAS
GO:0010494	Component	Cytoplasmic stress granule	IDA	23950712
GO:0010994	Process	Free ubiquitin chain polymerization	IDA	31006531
GO:0016567	Process	Protein ubiquitination	IDA	19017631, 19484123
GO:0032480	Process	Negative regulation of type I interferon production	TAS
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19017631
GO:0039529	Process	RIG-I signaling pathway	IDA	23950712
GO:0039529	Process	RIG-I signaling pathway	IMP	28469175, 31006531
GO:0039552	Function	RIG-I binding	IPI	23950712, 31006531
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0043021	Function	Ribonucleoprotein complex binding	IBA	21873635
GO:0043021	Function	Ribonucleoprotein complex binding	IDA	31006531
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	19881509
GO:0045087	Process	Innate immune response	TAS
GO:0045088	Process	Regulation of innate immune response	IBA	21873635
GO:0045088	Process	Regulation of innate immune response	IMP	19017631
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IDA	31006531
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	31006531
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	31006531
GO:0140374	Process	Antiviral innate immune response	IMP	28469175, 31006531
GO:1990904	Component	Ribonucleoprotein complex	IDA	31006531

Other IDs

• MIM: 611358
• HGNC: 21158
• e!Ensembl: ENSG00000181481

Protein

• UniProt ID: Q8IUD6
• Protein name: E3 ubiquitin-protein ligase RNF135 (EC 2.3.2.27) (RIG-I E3 ubiquitin ligase) (REUL) (RING finger protein 135) (RING finger protein leading to RIG-I activation) (Riplet) (RING-type E3 ubiquitin transferase RNF135)
• Protein function: E2-dependent E3 ubiquitin-protein ligase that functions as a RIGI coreceptor in the sensing of viral RNAs in cell cytoplasm and the activation of the antiviral innate immune response (PubMed:19017631, PubMed:19484123, PubMed:21147464, PubMed:239
• PDB: 7JL1, 7JL3, 8G7T, 8G7U, 8G7V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15227	zf-C3HC4_4	21 → 62		Domain
  PF00622	SPRY	312 → 427	SPRY domain	Family

• Sequence:

  MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACP
  TCRQGAAQQPHLRKNTLLQDLADKYRRAAREIQAGSDPAHCPCPGSSSLSSAAARPRRRP
  ELQRVAVEKSITEVAQELTELVEHLVDIVRSLQNQRPLSESGPDNELSILGKAFSSGVDL
  SMASPKLVTSDTAAGKIRDILHDLEEIQEKLQESVTWKEAPEAQMQGELLEAPSSSSCPL
  PDQSHPALRRASRFAQWAIHPTFNLKSLSCSLEVSKDSRTVTVSHRPQPYRWSCERFSTS
  QVLCSQALSSGKHYWEVDTRNCSHWAVGVASWEMSRDQVLGRTMDSCCVEWKGTSQLSAW
  HMVKETVLGSDRPGVVGIWLNLEEGKLAFYSVDNQEKLLYECTISASSPLYPAFWLYGLH
  PGNYLIIKQVKV

• Sequence length: 432

Pathways

Reactome:

DDX58/IFIH1-mediated induction of interferon-alpha/beta
Ovarian tumor domain proteases
TRAF3-dependent IRF activation pathway
TRAF6 mediated IRF7 activation
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
Negative regulators of DDX58/IFIH1 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Apraxia	Apraxia of Phonation	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1452048149, rs370498156, rs756691187, rs1557863430, rs1557863440, rs1557863546, rs769581210, rs202098093, rs1276388879, rs778792467, rs760059077, rs373783340, rs1557867853, rs772572695, rs753214391, rs749270162, rs548226228, rs1557870645, rs1557874046, rs749548928, rs754532606, rs1557901347, rs1557902023, rs1557909572, rs574335012, rs1557909821, rs1372713010, rs561369202, rs1476293577, rs1557910728, rs1557911386, rs375045125, rs998675361, rs1557916296, rs1557935477, rs866632178, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	30763456
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Cryptorchidism	Unilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Macrocephaly, macrosomia, and facial dysmorphism syndrome	MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME	rs724159978	17632510, 26368817
Mental retardation	Mild Mental Retardation	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

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital pectus carinatum	Congenital pectus carinatum
Hypoplasia of the optic nerve	Hypoplasia of the optic nerve
Nf1 microdeletion syndrome	NF1 Microdeletion Syndrome		17632510
Overgrowth-macrocephaly-facial dysmorphism syndrome	Overgrowth-macrocephaly-facial dysmorphism syndrome
Pulmonary stenosis	Pulmonary Stenosis
Strabismus	Strabismus