ATP6V1E1 (ATPase H+ transporting V1 subunit E1)

Gene

• Entrez ID: 529
• Gene name: ATPase H+ transporting V1 subunit E1
• Gene symbol: ATP6V1E1
• Synonyms: ARCL2C, ATP6E, ATP6E2, ATP6V1E, P31, Vma4
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1060505031	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023958	hsa-miR-1-3p	Proteomics	18668040
MIRT031879	hsa-miR-16-5p	Proteomics	18668040
MIRT046956	hsa-miR-221-3p	CLASH	23622248
MIRT040783	hsa-miR-18a-3p	CLASH	23622248
MIRT038081	hsa-miR-423-5p	CLASH	23622248
MIRT038081	hsa-miR-423-5p	PAR-CLIP	27292025
MIRT809346	hsa-miR-1245b-3p	CLIP-seq
MIRT809347	hsa-miR-1245b-5p	CLIP-seq
MIRT809348	hsa-miR-1287	CLIP-seq
MIRT809349	hsa-miR-1295	CLIP-seq
MIRT809350	hsa-miR-132	CLIP-seq
MIRT809351	hsa-miR-135a	CLIP-seq
MIRT809352	hsa-miR-135b	CLIP-seq
MIRT809353	hsa-miR-194	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT809356	hsa-miR-212	CLIP-seq
MIRT809357	hsa-miR-23a	CLIP-seq
MIRT809358	hsa-miR-23b	CLIP-seq
MIRT809359	hsa-miR-23c	CLIP-seq
MIRT809360	hsa-miR-3126-5p	CLIP-seq
MIRT809361	hsa-miR-3135b	CLIP-seq
MIRT809362	hsa-miR-3142	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT809364	hsa-miR-3202	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT809367	hsa-miR-3650	CLIP-seq
MIRT809368	hsa-miR-4419a	CLIP-seq
MIRT809369	hsa-miR-4422	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT809371	hsa-miR-4510	CLIP-seq
MIRT809372	hsa-miR-4533	CLIP-seq
MIRT809373	hsa-miR-4668-5p	CLIP-seq
MIRT809374	hsa-miR-4693-3p	CLIP-seq
MIRT809375	hsa-miR-4717-5p	CLIP-seq
MIRT809376	hsa-miR-4760-5p	CLIP-seq
MIRT809377	hsa-miR-499-3p	CLIP-seq
MIRT809378	hsa-miR-499a-3p	CLIP-seq
MIRT809379	hsa-miR-518a-3p	CLIP-seq
MIRT809380	hsa-miR-518b	CLIP-seq
MIRT809381	hsa-miR-518c	CLIP-seq
MIRT809382	hsa-miR-518d-3p	CLIP-seq
MIRT809383	hsa-miR-518f	CLIP-seq
MIRT809384	hsa-miR-645	CLIP-seq
MIRT809385	hsa-miR-664	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT809347	hsa-miR-1245b-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT809348	hsa-miR-1287	CLIP-seq
MIRT809349	hsa-miR-1295	CLIP-seq
MIRT809350	hsa-miR-132	CLIP-seq
MIRT809353	hsa-miR-194	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT809356	hsa-miR-212	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT809361	hsa-miR-3135b	CLIP-seq
MIRT809362	hsa-miR-3142	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT809364	hsa-miR-3202	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT809372	hsa-miR-4533	CLIP-seq
MIRT2178228	hsa-miR-4641	CLIP-seq
MIRT809374	hsa-miR-4693-3p	CLIP-seq
MIRT809375	hsa-miR-4717-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT809377	hsa-miR-499-3p	CLIP-seq
MIRT809378	hsa-miR-499a-3p	CLIP-seq
MIRT809379	hsa-miR-518a-3p	CLIP-seq
MIRT809380	hsa-miR-518b	CLIP-seq
MIRT809381	hsa-miR-518c	CLIP-seq
MIRT809382	hsa-miR-518d-3p	CLIP-seq
MIRT809383	hsa-miR-518f	CLIP-seq
MIRT809384	hsa-miR-645	CLIP-seq
MIRT2178230	hsa-miR-671-5p	CLIP-seq
MIRT2482071	hsa-miR-1205	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT2482072	hsa-miR-1288	CLIP-seq
MIRT2482073	hsa-miR-1909	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT2482074	hsa-miR-3144-5p	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT2482075	hsa-miR-3191	CLIP-seq
MIRT2482076	hsa-miR-3199	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT2482077	hsa-miR-3611	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT2482078	hsa-miR-3918	CLIP-seq
MIRT2482079	hsa-miR-3926	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT2482080	hsa-miR-4418	CLIP-seq
MIRT2482081	hsa-miR-4481	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT2482082	hsa-miR-4652-5p	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT2482083	hsa-miR-4745-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT2482084	hsa-miR-491-5p	CLIP-seq
MIRT2482085	hsa-miR-509-3-5p	CLIP-seq
MIRT2482086	hsa-miR-509-5p	CLIP-seq
MIRT2482071	hsa-miR-1205	CLIP-seq
MIRT1939120	hsa-miR-127-5p	CLIP-seq
MIRT1939121	hsa-miR-1279	CLIP-seq
MIRT2482072	hsa-miR-1288	CLIP-seq
MIRT2482073	hsa-miR-1909	CLIP-seq
MIRT809354	hsa-miR-200b	CLIP-seq
MIRT809355	hsa-miR-200c	CLIP-seq
MIRT2178226	hsa-miR-3064-3p	CLIP-seq
MIRT2482074	hsa-miR-3144-5p	CLIP-seq
MIRT809363	hsa-miR-3184	CLIP-seq
MIRT2482075	hsa-miR-3191	CLIP-seq
MIRT2482076	hsa-miR-3199	CLIP-seq
MIRT2178227	hsa-miR-335	CLIP-seq
MIRT809365	hsa-miR-34a	CLIP-seq
MIRT809366	hsa-miR-3591-3p	CLIP-seq
MIRT2482077	hsa-miR-3611	CLIP-seq
MIRT1939122	hsa-miR-3689d	CLIP-seq
MIRT1939123	hsa-miR-3692	CLIP-seq
MIRT2482078	hsa-miR-3918	CLIP-seq
MIRT2482079	hsa-miR-3926	CLIP-seq
MIRT1939124	hsa-miR-3942-3p	CLIP-seq
MIRT1939125	hsa-miR-4289	CLIP-seq
MIRT2482080	hsa-miR-4418	CLIP-seq
MIRT2482081	hsa-miR-4481	CLIP-seq
MIRT809370	hsa-miR-449b	CLIP-seq
MIRT1939126	hsa-miR-4511	CLIP-seq
MIRT2482082	hsa-miR-4652-5p	CLIP-seq
MIRT1939127	hsa-miR-4666-5p	CLIP-seq
MIRT2482083	hsa-miR-4745-5p	CLIP-seq
MIRT2178229	hsa-miR-4787-3p	CLIP-seq
MIRT2482084	hsa-miR-491-5p	CLIP-seq
MIRT2482085	hsa-miR-509-3-5p	CLIP-seq
MIRT2482086	hsa-miR-509-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11399750, 21784977
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005768	Component	Endosome	ISS
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005902	Component	Microvillus	IEA
GO:0008286	Process	Insulin receptor signaling pathway	TAS
GO:0008553	Function	Proton-exporting ATPase activity, phosphorylative mechanism	IBA	21873635
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016469	Component	Proton-transporting two-sector ATPase complex	TAS	8250920
GO:0016787	Function	Hydrolase activity	IEA
GO:0033178	Component	Proton-transporting two-sector ATPase complex, catalytic domain	IEA
GO:0033572	Process	Transferrin transport	TAS
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0051117	Function	ATPase binding	IPI	20717956
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0090383	Process	Phagosome acidification	TAS
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 108746
• HGNC: 857
• e!Ensembl: ENSG00000131100

Protein

• UniProt ID: P36543
• Protein name: V-type proton ATPase subunit E 1 (V-ATPase subunit E 1) (V-ATPase 31 kDa subunit) (p31) (Vacuolar proton pump subunit E 1)
• Protein function: Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091, PubMed:33065002). V-ATP
• PDB: 6WLZ, 6WM2, 6WM3, 6WM4, 7U4T, 7UNF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01991	vATP-synt_E	18 → 216	ATP synthase (E/31 kDa) subunit	Family

• Sequence:

  MALSDADVQKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKK
  EKQIEQQKKIQMSNLMNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLV
  LQGLYQLLEPRMIVRCRKQDFPLVKAAVQKAIPMYKIATKNDVDVQIDQESYLPEDIAGG
  VEIYNGDRKIKVSNTLESRLDLIAQQMMPEVRGALFGANANRKFLD

• Sequence length: 226

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Phagosome
mTOR signaling pathway
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis

Reactome:

ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, 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, rs1553149467, 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
Cryptorchidism	Bilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Cutis laxa	Cutis Laxa, Autosomal Recessive, Type IIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID, Autosomal recessive cutis laxa type 2, classic type	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322	28065471
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
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Myopia	Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937

Unknown
Disease name	Disease term	dbSNP ID	References
Acquired kyphoscoliosis	Acquired Kyphoscoliosis
Aortic valve insufficiency	Aortic Valve Insufficiency
Biventricular hypertrophy	Biventricular hypertrophy
Bundle branch block	Right bundle branch block
Cerebellar hypoplasia	Cerebellar Hypoplasia
Congenital clubfoot	Congenital clubfoot
Developmental dysplasia of the hip	Congenital Dysplasia Of The Hip
Congenital kyphoscoliosis	Congenital kyphoscoliosis
Dandy-walker syndrome	Dandy-Walker Syndrome
Dementia	Dementia
Dwarfism	Dwarfism
Entropion	Entropion
High palate	Byzanthine arch palate
Laryngomalacia	Laryngomalacia
Motor delay	Clumsiness - motor delay
Pachygyria	Pachygyria
Strabismus	Strabismus
Tricuspid valve insufficiency	Tricuspid Valve Insufficiency