RD3 (RD3 regulator of GUCY2D)

Gene

• Entrez ID: 343035
• Gene name: RD3 regulator of GUCY2D
• Gene symbol: RD3
• Synonyms: C1orf36, LCA12
• Chromosome: 1
• Chromosome location: 1q32.3
• Summary: This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splic

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146420268	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs386834260	C>A,T	Pathogenic	Splice donor variant
rs762631020	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs786205148	G>A	Pathogenic	Coding sequence variant, stop gained
rs786205149	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205150	C>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT710191	hsa-miR-329-5p	HITS-CLIP	19536157
MIRT710190	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT710189	hsa-miR-4257	HITS-CLIP	19536157
MIRT710188	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT710187	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT663151	hsa-miR-374c-3p	HITS-CLIP	23824327
MIRT663150	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT663149	hsa-miR-4779	HITS-CLIP	23824327
MIRT663148	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT663147	hsa-miR-5690	HITS-CLIP	23824327
MIRT663146	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT663145	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663144	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663143	hsa-miR-564	HITS-CLIP	23824327
MIRT663142	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT663141	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT663140	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT663139	hsa-miR-4266	HITS-CLIP	23824327
MIRT663138	hsa-miR-7977	HITS-CLIP	23824327
MIRT663137	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT663136	hsa-miR-665	HITS-CLIP	23824327
MIRT441890	hsa-miR-3910	PAR-CLIP	22291592
MIRT441889	hsa-miR-634	PAR-CLIP	22291592
MIRT441888	hsa-miR-451b	PAR-CLIP	22291592
MIRT441887	hsa-miR-605-3p	PAR-CLIP	22291592
MIRT441890	hsa-miR-3910	PAR-CLIP	22100165
MIRT441889	hsa-miR-634	PAR-CLIP	22100165
MIRT441888	hsa-miR-451b	PAR-CLIP	22100165
MIRT441887	hsa-miR-605-3p	PAR-CLIP	22100165
MIRT710191	hsa-miR-329-5p	HITS-CLIP	19536157
MIRT710190	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT710189	hsa-miR-4257	HITS-CLIP	19536157
MIRT710188	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT710187	hsa-miR-3692-3p	HITS-CLIP	19536157
MIRT663151	hsa-miR-374c-3p	HITS-CLIP	23824327
MIRT663150	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT663149	hsa-miR-4779	HITS-CLIP	23824327
MIRT663148	hsa-miR-6767-3p	HITS-CLIP	23824327
MIRT663147	hsa-miR-5690	HITS-CLIP	23824327
MIRT663146	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT663145	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT663144	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT663143	hsa-miR-564	HITS-CLIP	23824327
MIRT663142	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT663141	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT663140	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT663139	hsa-miR-4266	HITS-CLIP	23824327
MIRT663138	hsa-miR-7977	HITS-CLIP	23824327
MIRT663137	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT663136	hsa-miR-665	HITS-CLIP	23824327
MIRT441890	hsa-miR-3910	PAR-CLIP	22291592
MIRT441889	hsa-miR-634	PAR-CLIP	22291592
MIRT441888	hsa-miR-451b	PAR-CLIP	22291592
MIRT441887	hsa-miR-605-3p	PAR-CLIP	22291592
MIRT441890	hsa-miR-3910	PAR-CLIP	22100165
MIRT441889	hsa-miR-634	PAR-CLIP	22100165
MIRT441888	hsa-miR-451b	PAR-CLIP	22100165
MIRT441887	hsa-miR-605-3p	PAR-CLIP	22100165
MIRT1298831	hsa-miR-1237	CLIP-seq
MIRT1298832	hsa-miR-1248	CLIP-seq
MIRT1298833	hsa-miR-1271	CLIP-seq
MIRT1298834	hsa-miR-128	CLIP-seq
MIRT1298835	hsa-miR-182	CLIP-seq
MIRT1298836	hsa-miR-1827	CLIP-seq
MIRT1298837	hsa-miR-2110	CLIP-seq
MIRT1298838	hsa-miR-24	CLIP-seq
MIRT1298839	hsa-miR-298	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT1298841	hsa-miR-3150a-3p	CLIP-seq
MIRT1298842	hsa-miR-3175	CLIP-seq
MIRT1298843	hsa-miR-34b	CLIP-seq
MIRT1298844	hsa-miR-3606	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298846	hsa-miR-3612	CLIP-seq
MIRT1298847	hsa-miR-3614-5p	CLIP-seq
MIRT1298848	hsa-miR-3675-3p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT1298854	hsa-miR-3974	CLIP-seq
MIRT1298855	hsa-miR-4260	CLIP-seq
MIRT1298856	hsa-miR-4269	CLIP-seq
MIRT1298857	hsa-miR-4284	CLIP-seq
MIRT1298858	hsa-miR-4308	CLIP-seq
MIRT1298859	hsa-miR-4461	CLIP-seq
MIRT1298860	hsa-miR-4645-5p	CLIP-seq
MIRT1298861	hsa-miR-4673	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT1298863	hsa-miR-4753-3p	CLIP-seq
MIRT1298864	hsa-miR-4755-3p	CLIP-seq
MIRT1298865	hsa-miR-490-3p	CLIP-seq
MIRT1298866	hsa-miR-539	CLIP-seq
MIRT1298867	hsa-miR-580	CLIP-seq
MIRT1298868	hsa-miR-650	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq
MIRT1298870	hsa-miR-885-3p	CLIP-seq
MIRT1298871	hsa-miR-9	CLIP-seq
MIRT1298872	hsa-miR-939	CLIP-seq
MIRT1298873	hsa-miR-942	CLIP-seq
MIRT1298874	hsa-miR-96	CLIP-seq
MIRT2088904	hsa-miR-4710	CLIP-seq
MIRT2088905	hsa-miR-4792	CLIP-seq
MIRT2088906	hsa-miR-664	CLIP-seq
MIRT2088907	hsa-miR-873	CLIP-seq
MIRT2088908	hsa-miR-194	CLIP-seq
MIRT2313801	hsa-miR-1184	CLIP-seq
MIRT1298833	hsa-miR-1271	CLIP-seq
MIRT1298834	hsa-miR-128	CLIP-seq
MIRT1298835	hsa-miR-182	CLIP-seq
MIRT1298836	hsa-miR-1827	CLIP-seq
MIRT2088908	hsa-miR-194	CLIP-seq
MIRT1298837	hsa-miR-2110	CLIP-seq
MIRT1298838	hsa-miR-24	CLIP-seq
MIRT1298839	hsa-miR-298	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT2313802	hsa-miR-3132	CLIP-seq
MIRT1298841	hsa-miR-3150a-3p	CLIP-seq
MIRT1298843	hsa-miR-34b	CLIP-seq
MIRT2313803	hsa-miR-3529	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298847	hsa-miR-3614-5p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT2313804	hsa-miR-379	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT2313805	hsa-miR-3929	CLIP-seq
MIRT2313806	hsa-miR-4252	CLIP-seq
MIRT1298856	hsa-miR-4269	CLIP-seq
MIRT1298857	hsa-miR-4284	CLIP-seq
MIRT2313807	hsa-miR-4418	CLIP-seq
MIRT2313808	hsa-miR-4419b	CLIP-seq
MIRT2313809	hsa-miR-4450	CLIP-seq
MIRT2313810	hsa-miR-4478	CLIP-seq
MIRT2313811	hsa-miR-4537	CLIP-seq
MIRT1298860	hsa-miR-4645-5p	CLIP-seq
MIRT2313812	hsa-miR-4649-3p	CLIP-seq
MIRT1298861	hsa-miR-4673	CLIP-seq
MIRT2313813	hsa-miR-4703-3p	CLIP-seq
MIRT2088904	hsa-miR-4710	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT1298864	hsa-miR-4755-3p	CLIP-seq
MIRT2313814	hsa-miR-4760-5p	CLIP-seq
MIRT2088905	hsa-miR-4792	CLIP-seq
MIRT2313815	hsa-miR-4793-3p	CLIP-seq
MIRT2313816	hsa-miR-485-5p	CLIP-seq
MIRT2313817	hsa-miR-509-3-5p	CLIP-seq
MIRT2313818	hsa-miR-509-5p	CLIP-seq
MIRT2313819	hsa-miR-555	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq
MIRT2313820	hsa-miR-661	CLIP-seq
MIRT1298870	hsa-miR-885-3p	CLIP-seq
MIRT1298874	hsa-miR-96	CLIP-seq
MIRT2458007	hsa-miR-2116	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT2458008	hsa-miR-4273	CLIP-seq
MIRT2458009	hsa-miR-4533	CLIP-seq
MIRT2458010	hsa-miR-4677-5p	CLIP-seq
MIRT2458011	hsa-miR-4716-5p	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT2458012	hsa-miR-4747-5p	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq
MIRT2458007	hsa-miR-2116	CLIP-seq
MIRT1298838	hsa-miR-24	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298848	hsa-miR-3675-3p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT2458008	hsa-miR-4273	CLIP-seq
MIRT1298857	hsa-miR-4284	CLIP-seq
MIRT2458010	hsa-miR-4677-5p	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT2610378	hsa-miR-548c-3p	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq
MIRT1298840	hsa-miR-3122	CLIP-seq
MIRT1298845	hsa-miR-3607-3p	CLIP-seq
MIRT1298848	hsa-miR-3675-3p	CLIP-seq
MIRT1298849	hsa-miR-3681	CLIP-seq
MIRT1298850	hsa-miR-3686	CLIP-seq
MIRT1298851	hsa-miR-3689a-3p	CLIP-seq
MIRT1298852	hsa-miR-3689c	CLIP-seq
MIRT1298853	hsa-miR-3913-5p	CLIP-seq
MIRT1298862	hsa-miR-4728-5p	CLIP-seq
MIRT2610378	hsa-miR-548c-3p	CLIP-seq
MIRT1298869	hsa-miR-654-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005515	Function	Protein binding	IPI	21078983, 25416956, 29515371, 31515488, 32296183
GO:0005634	Component	Nucleus	IDA	29030614
GO:0005737	Component	Cytoplasm	IDA	29030614
GO:0005768	Component	Endosome	IEA
GO:0007601	Process	Visual perception	ISS
GO:0015031	Process	Protein transport	IMP	21928830
GO:0031283	Process	Negative regulation of guanylate cyclase activity	IMP	21928830, 30559291
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	29030614
GO:0050896	Process	Response to stimulus	IEA
GO:0060041	Process	Retina development in camera-type eye	IBA	21873635
GO:0060041	Process	Retina development in camera-type eye	ISS
GO:0120199	Component	Cone photoreceptor outer segment	IEA
GO:0120200	Component	Rod photoreceptor outer segment	IEA

Other IDs

• MIM: 180040
• HGNC: 19689
• e!Ensembl: ENSG00000198570

Protein

• UniProt ID: Q7Z3Z2
• Protein name: Protein RD3 (Retinal degeneration protein 3)
• Protein function: Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:21078983, PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulate
• PDB: 6DRF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14473	RD3	5 → 133	RD3 protein	Family

• Sequence:

  MSLISWLRWNEAPSRLSTRSPAEMVLETLMMELTGQMREAERQQRERSNAVRKVCTGVDY
  SWLASTPRSTYDLSPIERLQLEDVCVKIHPSYCGPAILRFRQLLAEQEPEVQEVSQLFRS
  VLQEVLERMKQEEEAHKLTRQWSLRPRGSLATFKTRARISPFASDIRTISEDVERDTPPP
  LRSWSMPEFRAPKAD

• Sequence length: 195

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Keratoconus	Keratoconus	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Leber congenital amaurosis	Leber Congenital Amaurosis, LEBER CONGENITAL AMAUROSIS 12 (disorder)	rs386834252, rs386834253, rs121918165, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs80044281, rs386834241, rs75895925, rs386834243, rs750962965, rs28940313, rs386834261, rs104894470, rs28940314, rs104894471, rs104894474, rs104894475, rs104894476, rs28940315, rs104894472, rs104894473, rs387906272, rs121434337, rs202126574, rs137853124, rs397515360, rs1560870755, rs62637014, rs62637016, rs62635656, rs62635654, rs28939720, rs62635659, rs137853136, rs137853137, rs62636275, rs281865175, rs62638214, rs121908449, rs121909074, rs121909075, rs1581734819, rs104894673, rs61750420, rs61749755, rs61750172, rs61752895, rs61752871, rs121917744, rs61752909, rs121917745, rs386834260, rs121912554, rs781781440, rs62653011, rs61752904, rs62636300, rs387906835, rs387906836, rs387906837, rs2147483647, rs387906858, rs143607153, rs387907009, rs140287375, rs387907290, rs142968179, rs150726175, rs387907291, rs368062092, rs387907293, rs387907294, rs62645748, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1401531865, rs386834239, rs61748449, rs62637010, rs142326926, rs267598278, rs398124354, rs61749676, rs61749679, rs61749683, rs63749078, rs61749758, rs61749759, rs61750161, rs281865410, rs61750168, rs61750179, rs61750183, rs61750184, rs61750185, rs61750187, rs281865408, rs61750188, rs61750189, rs281865411, rs61749668, rs61750194, rs63340060, rs61749670, rs281865409, rs63749076, rs61749671, rs61749663, rs61749673, rs61749674, rs281865520, rs61751276, rs61751281, rs62636295, rs62636298, rs62636299, rs61751282, rs61752865, rs62637006, rs62637007, rs62653015, rs281865292, rs61752866, rs61752873, rs62642583, rs62642584, rs61752875, rs61752877, rs61752880, rs61752882, rs61752883, rs61752884, rs61752888, rs61752891, rs61751277, rs61752896, rs61752899, rs281865289, rs61752903, rs61751279, rs61752905, rs61752906, rs61752908, rs61749423, rs61748446, rs281865515, rs281865517, rs62636511, rs281865168, rs281865171, rs281865166, rs140808549, rs62637009, rs61751266, rs61751268, rs61751271, rs61751265, rs62640580, rs62640570, rs62640581, rs62640574, rs62638179, rs281865187, rs62638180, rs281865189, rs62645750, rs62645754, rs62645746, rs62636264, rs62636266, rs62645755, rs62636267, rs62635653, rs62636269, rs62636270, rs62636271, rs62636273, rs281865173, rs62636274, rs62636276, rs62636278, rs281865174, rs62635649, rs62645752, rs79436363, rs527236099, rs114342808, rs527236126, rs587783009, rs587783010, rs535922252, rs587783012, rs587783013, rs587783015, rs587783016, rs587783017, rs587783018, rs587783019, rs773372519, rs786204787, rs762631020, rs786205148, rs786205149, rs786205150, rs748902766, rs767745816, rs786205550, rs786205623, rs786205630, rs863223341, rs766608755, rs192003551, rs370119681, rs758329611, rs797044761, rs794727952, rs794729650, rs863224862, rs863224884, rs771454167, rs756302731, rs749439750, rs780624853, rs863225189, rs727503855, rs758550675, rs751218423, rs869312175, rs869320631, rs767648174, rs878853362, rs747835249, rs371496675, rs878853360, rs878853392, rs878853341, rs878853338, rs878853339, rs878853385, rs764256655, rs371526758, rs886039871, rs886039911, rs780225183, rs886042220, rs886042360, rs115352681, rs201405662, rs760915898, rs886043587, rs183261547, rs116471343, rs61752902, rs1057518122, rs1057518922, rs1057518949, rs775796581, rs368088025, rs1057519136, rs1057520152, rs752175052, rs62636260, rs777464278, rs1064797182, rs1064797304, rs1085307972, rs62645747, rs1420672586, rs1553152989, rs794727166, rs1554347012, rs1555220638, rs1555222073, rs371609982, rs768028061, rs1556313552, rs1556313557, rs1555635550, rs369775002, rs145282040, rs1553261468, rs773914330, rs1553263218, rs757740068, rs199683808, rs1553128102, rs775978677, rs747653875, rs1553722736, rs766143193, rs866395428, rs781670422, rs776880045, rs565837539, rs1555302710, rs780667159, rs1555303320, rs1555635925, rs1271498710, rs763890649, rs1553260321, rs767030473, rs1191496583, rs778606847, rs766670248, rs758593134, rs1555635668, rs201587670, rs754768875, rs775935766, rs1349849938, rs374268850, rs1554786803, rs1554786802, rs1555370458, rs1369768287, rs760540562, rs751342895, rs1429786931, rs753697847, rs564754426, rs143745703, rs771266705, rs776698746, rs1553153243, rs1555302200, rs1192112844, rs776645403, rs757609119, rs1239043055, rs1327062642, rs192907397, rs121918844, rs1429137932, rs116733939, rs1395763356, rs1226324483, rs554396590, rs776289402, rs574936510, rs750889782, rs1569531639, rs776591659, rs747393487, rs764309755, rs772170760, rs75459701, rs1264794214, rs757823463, rs759940113, rs1237424465, rs1558057153, rs1558127317, rs745422941, rs988133284, rs1566674809, rs771116776, rs1006935198, rs61750171, rs768390959, rs1568626289, rs778627080, rs752263228, rs971610277, rs1567958644, rs1557595199, rs1030149008, rs777069665, rs1208703297, rs139305531, rs1592833648, rs150412614, rs759662695, rs372066126, rs781705903, rs1592726020, rs368489658, rs758001091, rs1598146589, rs1598149659, rs968692633, rs202240410, rs1597331616, rs748798324, rs1571848688, rs143511261, rs763324776, rs774130993, rs1268307330, rs781035395, rs747138345, rs749331348, rs1468942944, rs760415289, rs1290241933, rs759408031, rs1594867551, rs200387832, rs1598144694, rs746351112, rs1594865068, rs768255532, rs1290420698, rs1300041533, rs747512450, rs567890014, rs1571848166, rs1571848855, rs1571878277, rs1571523319, rs1571525145, rs745348555, rs1571557864, rs1450635782, rs1193631220, rs1571158755, rs1571164534, rs752058510, rs527236079, rs373680665, rs745704627, rs773968778, rs1581736024, rs1178243254, rs376500610, rs61751270, rs1594865036, rs749038454, rs1594865434, rs945734402, rs1599991538, rs1599991611, rs766631462, rs745871149, rs140257538, rs1182277140, rs1769845495, rs1571848744, rs768905244, rs1571540258, rs1571544281, rs1571172233, rs1581736099, rs1581740762, rs1581742633, rs1581743256, rs765473119, rs1588830568, rs1592784618, rs1420750126, rs1594867516, rs1468041544, rs775364986, rs1598149187, rs781725943, rs890453675, rs1581735836, rs1602071524, rs772794324, rs114630940, rs1641970512, rs751644763, rs748559081, rs1286660951, rs2040637111, rs752193525, rs45502896, rs1594202505, rs1594203796, rs1325103400, rs1594280740, rs1594180177, rs1592807018, rs201070350, rs768445391, rs1581742615, rs1594865064, rs778731851, rs1660503192, rs1660516364, rs369184026, rs768713412, rs1665487563, rs1667269806, rs34627040, rs375110174, rs748972748, rs1240302846, rs1766524422, rs748370008, rs1248460033, rs1033594764, rs1186821575, rs770126103, rs745741473, rs761231974, rs752242512, rs116649873, rs2038232008, rs2038232911, rs2038317129, rs2077123571, rs2077123914, rs374255033, rs781331005, rs2039659434, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs766411096, rs1664671663, rs1558138741, rs760544654, rs562037932, rs1444234037, rs771336246, rs751589956, rs1331834680, rs762633090, rs747257567, rs761167763, rs1163040913, rs2038196341, rs760813820, rs751589863, rs760287363, rs1645823028, rs1645824187, rs774309607, rs1015895028, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1413885352, rs201883601	17186464, 25685757
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease name	Disease term	dbSNP ID	References
Ciliopathies	Ciliopathies
Congenital blindness	Congenital blindness
Congenital cerebral hernia	Congenital cerebral hernia
Disorder of eye	Disorder of eye
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
Malformation of cortical development	Malformations of Cortical Development, Group II