CCDC88A (coiled-coil and HOOK domain protein 88A)

Gene

• Entrez ID: 55704
• Gene name: Coiled-coil and HOOK domain protein 88A
• Gene symbol: CCDC88A
• Synonyms: APE, GIRDIN, GIV, GRDN, HkRP1, KIAA1212, PEHO, PEHOL
• Chromosome: 2
• Chromosome location: 2p16.1
• Summary: This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs879255649	A>-	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019700	hsa-miR-375	Microarray	20215506
MIRT053777	hsa-miR-4448	ChIP-seq, Flow, Microarray, qRT-PCR, Western blot	24861464
MIRT499574	hsa-miR-4311	PAR-CLIP	24398324
MIRT499573	hsa-miR-583	PAR-CLIP	24398324
MIRT499572	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499571	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499570	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499569	hsa-miR-4510	PAR-CLIP	24398324
MIRT499568	hsa-miR-6127	PAR-CLIP	24398324
MIRT499567	hsa-miR-6129	PAR-CLIP	24398324
MIRT499566	hsa-miR-6130	PAR-CLIP	24398324
MIRT499565	hsa-miR-6133	PAR-CLIP	24398324
MIRT499564	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT499563	hsa-miR-4306	PAR-CLIP	24398324
MIRT499561	hsa-miR-4644	PAR-CLIP	24398324
MIRT499562	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT499560	hsa-miR-8085	PAR-CLIP	24398324
MIRT499564	hsa-miR-185-5p	PAR-CLIP	27292025
MIRT499563	hsa-miR-4306	PAR-CLIP	27292025
MIRT499574	hsa-miR-4311	PAR-CLIP	27292025
MIRT499570	hsa-miR-4419a	PAR-CLIP	27292025
MIRT499569	hsa-miR-4510	PAR-CLIP	27292025
MIRT499561	hsa-miR-4644	PAR-CLIP	27292025
MIRT499573	hsa-miR-583	PAR-CLIP	27292025
MIRT499568	hsa-miR-6127	PAR-CLIP	27292025
MIRT499567	hsa-miR-6129	PAR-CLIP	27292025
MIRT499566	hsa-miR-6130	PAR-CLIP	27292025
MIRT499565	hsa-miR-6133	PAR-CLIP	27292025
MIRT499562	hsa-miR-6731-5p	PAR-CLIP	27292025
MIRT499571	hsa-miR-6760-5p	PAR-CLIP	27292025
MIRT499572	hsa-miR-6873-5p	PAR-CLIP	27292025
MIRT499560	hsa-miR-8085	PAR-CLIP	27292025
MIRT499574	hsa-miR-4311	PAR-CLIP	24398324
MIRT499573	hsa-miR-583	PAR-CLIP	24398324
MIRT499572	hsa-miR-6873-5p	PAR-CLIP	24398324
MIRT499571	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT499570	hsa-miR-4419a	PAR-CLIP	24398324
MIRT499569	hsa-miR-4510	PAR-CLIP	24398324
MIRT499568	hsa-miR-6127	PAR-CLIP	24398324
MIRT499567	hsa-miR-6129	PAR-CLIP	24398324
MIRT499566	hsa-miR-6130	PAR-CLIP	24398324
MIRT499565	hsa-miR-6133	PAR-CLIP	24398324
MIRT499564	hsa-miR-185-5p	PAR-CLIP	24398324
MIRT499563	hsa-miR-4306	PAR-CLIP	24398324
MIRT499561	hsa-miR-4644	PAR-CLIP	24398324
MIRT499562	hsa-miR-6731-5p	PAR-CLIP	24398324
MIRT499560	hsa-miR-8085	PAR-CLIP	24398324
MIRT870106	hsa-miR-3688-3p	CLIP-seq
MIRT870107	hsa-miR-4422	CLIP-seq
MIRT870108	hsa-miR-4424	CLIP-seq
MIRT870109	hsa-miR-603	CLIP-seq
MIRT870110	hsa-miR-185	CLIP-seq
MIRT870111	hsa-miR-3120-3p	CLIP-seq
MIRT870112	hsa-miR-3153	CLIP-seq
MIRT870106	hsa-miR-3688-3p	CLIP-seq
MIRT870113	hsa-miR-3978	CLIP-seq
MIRT870114	hsa-miR-4272	CLIP-seq
MIRT870115	hsa-miR-4310	CLIP-seq
MIRT870116	hsa-miR-4330	CLIP-seq
MIRT870117	hsa-miR-4506	CLIP-seq
MIRT870118	hsa-miR-4659a-5p	CLIP-seq
MIRT870119	hsa-miR-4659b-5p	CLIP-seq
MIRT870120	hsa-miR-4668-5p	CLIP-seq
MIRT870121	hsa-miR-4775	CLIP-seq
MIRT870122	hsa-miR-4776-3p	CLIP-seq
MIRT870123	hsa-miR-510	CLIP-seq
MIRT870124	hsa-miR-512-5p	CLIP-seq
MIRT870109	hsa-miR-603	CLIP-seq
MIRT870125	hsa-miR-618	CLIP-seq
MIRT870110	hsa-miR-185	CLIP-seq
MIRT1958341	hsa-miR-4680-5p	CLIP-seq
MIRT1958342	hsa-miR-9	CLIP-seq
MIRT2195105	hsa-miR-129-5p	CLIP-seq
MIRT2195106	hsa-miR-3692	CLIP-seq
MIRT2195107	hsa-miR-4717-3p	CLIP-seq
MIRT2195108	hsa-miR-4742-3p	CLIP-seq
MIRT2195109	hsa-miR-4768-5p	CLIP-seq
MIRT2195110	hsa-miR-4802-3p	CLIP-seq
MIRT2195111	hsa-miR-586	CLIP-seq
MIRT2195112	hsa-miR-656	CLIP-seq
MIRT2385678	hsa-miR-3606	CLIP-seq
MIRT2385679	hsa-miR-921	CLIP-seq
MIRT2446439	hsa-miR-606	CLIP-seq
MIRT2498415	hsa-miR-1261	CLIP-seq
MIRT2498416	hsa-miR-1272	CLIP-seq
MIRT2498417	hsa-miR-1278	CLIP-seq
MIRT2498418	hsa-miR-1294	CLIP-seq
MIRT2498419	hsa-miR-141	CLIP-seq
MIRT2498420	hsa-miR-181a	CLIP-seq
MIRT2498421	hsa-miR-181b	CLIP-seq
MIRT2498422	hsa-miR-181c	CLIP-seq
MIRT2498423	hsa-miR-181d	CLIP-seq
MIRT2498424	hsa-miR-200a	CLIP-seq
MIRT2498425	hsa-miR-208a	CLIP-seq
MIRT2498426	hsa-miR-208b	CLIP-seq
MIRT2498427	hsa-miR-298	CLIP-seq
MIRT870111	hsa-miR-3120-3p	CLIP-seq
MIRT2498428	hsa-miR-3617	CLIP-seq
MIRT2195106	hsa-miR-3692	CLIP-seq
MIRT2498429	hsa-miR-369-3p	CLIP-seq
MIRT2498430	hsa-miR-374a	CLIP-seq
MIRT2498431	hsa-miR-374b	CLIP-seq
MIRT2498432	hsa-miR-4262	CLIP-seq
MIRT2498433	hsa-miR-4289	CLIP-seq
MIRT870115	hsa-miR-4310	CLIP-seq
MIRT2498434	hsa-miR-4316	CLIP-seq
MIRT2498435	hsa-miR-4438	CLIP-seq
MIRT2498436	hsa-miR-4503	CLIP-seq
MIRT2498437	hsa-miR-4517	CLIP-seq
MIRT2498438	hsa-miR-4524	CLIP-seq
MIRT2195108	hsa-miR-4742-3p	CLIP-seq
MIRT2498439	hsa-miR-4760-3p	CLIP-seq
MIRT2195109	hsa-miR-4768-5p	CLIP-seq
MIRT870121	hsa-miR-4775	CLIP-seq
MIRT2195110	hsa-miR-4802-3p	CLIP-seq
MIRT2498440	hsa-miR-490-5p	CLIP-seq
MIRT2498441	hsa-miR-499-5p	CLIP-seq
MIRT2498442	hsa-miR-501-3p	CLIP-seq
MIRT2498443	hsa-miR-502-3p	CLIP-seq
MIRT870125	hsa-miR-618	CLIP-seq
MIRT2498444	hsa-miR-641	CLIP-seq
MIRT2498415	hsa-miR-1261	CLIP-seq
MIRT2498416	hsa-miR-1272	CLIP-seq
MIRT2498417	hsa-miR-1278	CLIP-seq
MIRT2677507	hsa-miR-128	CLIP-seq
MIRT2498418	hsa-miR-1294	CLIP-seq
MIRT2498419	hsa-miR-141	CLIP-seq
MIRT2498424	hsa-miR-200a	CLIP-seq
MIRT2498425	hsa-miR-208a	CLIP-seq
MIRT2498426	hsa-miR-208b	CLIP-seq
MIRT2677508	hsa-miR-2116	CLIP-seq
MIRT2498427	hsa-miR-298	CLIP-seq
MIRT2677509	hsa-miR-3198	CLIP-seq
MIRT2498428	hsa-miR-3617	CLIP-seq
MIRT2498429	hsa-miR-369-3p	CLIP-seq
MIRT2498430	hsa-miR-374a	CLIP-seq
MIRT2498431	hsa-miR-374b	CLIP-seq
MIRT2677510	hsa-miR-4273	CLIP-seq
MIRT2498433	hsa-miR-4289	CLIP-seq
MIRT2677511	hsa-miR-4309	CLIP-seq
MIRT2498434	hsa-miR-4316	CLIP-seq
MIRT2677512	hsa-miR-432	CLIP-seq
MIRT2498435	hsa-miR-4438	CLIP-seq
MIRT2677513	hsa-miR-4445	CLIP-seq
MIRT2498436	hsa-miR-4503	CLIP-seq
MIRT2498437	hsa-miR-4517	CLIP-seq
MIRT2498438	hsa-miR-4524	CLIP-seq
MIRT2677514	hsa-miR-4677-5p	CLIP-seq
MIRT2498439	hsa-miR-4760-3p	CLIP-seq
MIRT2195110	hsa-miR-4802-3p	CLIP-seq
MIRT2498440	hsa-miR-490-5p	CLIP-seq
MIRT2498441	hsa-miR-499-5p	CLIP-seq
MIRT2498442	hsa-miR-501-3p	CLIP-seq
MIRT2498443	hsa-miR-502-3p	CLIP-seq
MIRT870125	hsa-miR-618	CLIP-seq
MIRT2498444	hsa-miR-641	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001932	Process	Regulation of protein phosphorylation	ISS
GO:0001965	Function	G-protein alpha-subunit binding	IPI	19211784, 23509302, 27621449
GO:0003779	Function	Actin binding	IDA	16139227
GO:0005080	Function	Protein kinase C binding	IPI	23509302
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	19211784, 23509302, 27864364
GO:0005092	Function	GDP-dissociation inhibitor activity	IDA	27621449
GO:0005154	Function	Epidermal growth factor receptor binding	IPI	20462955, 25187647
GO:0005158	Function	Insulin receptor binding	IPI	25187647
GO:0005515	Function	Protein binding	IPI	17043677, 31413325
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	15882442
GO:0005794	Component	Golgi apparatus	IDA	15882442
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005814	Component	Centriole	IDA	27623382
GO:0005829	Component	Cytosol	IDA	15749703, 27864364
GO:0005886	Component	Plasma membrane	IDA	15882442, 27864364
GO:0006260	Process	DNA replication	IEA
GO:0006275	Process	Regulation of DNA replication	ISS
GO:0007264	Process	Small GTPase mediated signal transduction	IDA	19211784, 23509302, 27621449, 27864364
GO:0007399	Process	Nervous system development	IEA
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0008017	Function	Microtubule binding	ISS
GO:0010975	Process	Regulation of neuron projection development	ISS
GO:0016020	Component	Membrane	IDA	15749703, 15882442
GO:0016477	Process	Cell migration	IMP	16139227
GO:0030027	Component	Lamellipodium	IDA	16139227
GO:0030032	Process	Lamellipodium assembly	IMP	16139227
GO:0030142	Component	COPI-coated Golgi to ER transport vesicle	IEA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IBA	21873635
GO:0031122	Process	Cytoplasmic microtubule organization	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IDA	15882442
GO:0031682	Function	G-protein gamma-subunit binding	IEA
GO:0031929	Process	TOR signaling	ISS
GO:0032147	Process	Activation of protein kinase activity	IDA	21954290
GO:0032148	Process	Activation of protein kinase B activity	ISS
GO:0032956	Process	Regulation of actin cytoskeleton organization	IMP	16139227
GO:0035091	Function	Phosphatidylinositol binding	IDA	16139227
GO:0036064	Component	Ciliary basal body	IDA	27623382
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0042169	Function	SH2 domain binding	IPI	21954290
GO:0042803	Function	Protein homodimerization activity	IPI	16139227
GO:0043184	Function	Vascular endothelial growth factor receptor 2 binding	IPI	25187647
GO:0043422	Function	Protein kinase B binding	IPI	16139227
GO:0045724	Process	Positive regulation of cilium assembly	IMP	27623382
GO:0045742	Process	Positive regulation of epidermal growth factor receptor signaling pathway	IDA	20462955
GO:0051496	Process	Positive regulation of stress fiber assembly	IMP	16139227
GO:0051959	Function	Dynein light intermediate chain binding	IBA	21873635
GO:0061024	Process	Membrane organization	IDA	15882442
GO:0072660	Process	Maintenance of protein location in plasma membrane	IDA	20462955
GO:1903566	Process	Positive regulation of protein localization to cilium	IMP	27623382

Other IDs

• MIM: 609736
• HGNC: 25523
• e!Ensembl: ENSG00000115355

Protein

• UniProt ID: Q3V6T2
• Protein name: Girdin (Akt phosphorylation enhancer) (APE) (Coiled-coil domain-containing protein 88A) (G alpha-interacting vesicle-associated protein) (GIV) (Girders of actin filament) (Hook-related protein 1) (HkRP1)
• Protein function: Bifunctional modulator of guanine nucleotide-binding proteins (G proteins) (PubMed:19211784, PubMed:27621449). Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein G(i) alpha s
• PDB: 6MHF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF19047	HOOK_N	13 → 167	HOOK domain	Domain

• Sequence:

  MENEIFTPLLEQFMTSPLVTWVKTFGPLAAGNGTNLDEYVALVDGVFLNQVMLQINPKLE
  SQRVNKKVNNDASLRMHNLSILVRQIKFYYQETLQQLIMMSLPNVLIIGKNPFSEQGTEE
  VKKLLLLLLGCAVQCQKKEEFIERIQGLDFDTKAAVAAHIQEVTHNQENVFDLQWMEVTD
  MSQEDIEPLLKNMALHLKRLIDERDEHSETIIELSEERDGLHFLPHASSSAQSPCGSPGM
  KRTESRQHLSVELADAKAKIRRLRQELEEKTEQLLDCKQELEQMEIELKRLQQENMNLLS
  DARSARMYRDELDALREKAVRVDKLESEVSRYKERLHDIEFYKARVEELKEDNQVLLETK
  TMLEDQLEGTRARSDKLHELEKENLQLKAKLHDMEMERDMDRKKIEELMEENMTLEMAQK
  QSMDESLHLGWELEQISRTSELSEAPQKSLGHEVNELTSSRLLKLEMENQSLTKTVEELR
  TTVDSVEGNASKILKMEKENQRLSKKVEILENEIVQEKQSLQNCQNLSKDLMKEKAQLEK
  TIETLRENSERQIKILEQENEHLNQTVSSLRQRSQISAEARVKDIEKENKILHESIKETS
  SKLSKIEFEKRQIKKELEHYKEKGERAEELENELHHLEKENELLQKKITNLKITCEKIEA
  LEQENSELERENRKLKKTLDSFKNLTFQLESLEKENSQLDEENLELRRNVESLKCASMKM
  AQLQLENKELESEKEQLKKGLELLKASFKKTERLEVSYQGLDIENQRLQKTLENSNKKIQ
  QLESELQDLEMENQTLQKNLEELKISSKRLEQLEKENKSLEQETSQLEKDKKQLEKENKR
  LRQQAEIKDTTLEENNVKIGNLEKENKTLSKEIGIYKESCVRLKELEKENKELVKRATID
  IKTLVTLREDLVSEKLKTQQMNNDLEKLTHELEKIGLNKERLLHDEQSTDDSRYKLLESK
  LESTLKKSLEIKEEKIAALEARLEESTNYNQQLRQELKTVKKNYEALKQRQDEERMVQSS
  PPISGEDNKWERESQETTRELLKVKDRLIEVERNNATLQAEKQALKTQLKQLETQNNNLQ
  AQILALQRQTVSLQEQNTTLQTQNAKLQVENSTLNSQSTSLMNQNAQLLIQQSSLENENE
  SVIKEREDLKSLYDSLIKDHEKLELLHERQASEYESLISKHGTLKSAHKNLEVEHRDLED
  RYNQLLKQKGQLEDLEKMLKVEQEKMLLENKNHETVAAEYKKLCGENDRLNHTYSQLLKE
  TEVLQTDHKNLKSLLNNSKLEQTRLEAEFSKLKEQYQQLDITSTKLNNQCELLSQLKGNL
  EEENRHLLDQIQTLMLQNRTLLEQNMESKDLFHVEQRQYIDKLNELRRQKEKLEEKIMDQ
  YKFYDPSPPRRRGNWITLKMRKLIKSKKDINRERQKSLTLTPTRSDSSEGFLQLPHQDSQ
  DSSSVGSNSLEDGQTLGTKKSSMVALKRLPFLRNRPKDKDKMKACYRRSMSMNDLVQSMV
  LAGQWTGSTENLEVPDDISTGKRRKELGAMAFSTTAINFSTVNSSAGFRSKQLVNNKDTT
  SFEDISPQGVSDDSSTGSRVHASRPASLDSGRTSTSNSNNNASLHEVKAGAVNNQSRPQS
  HSSGEFSLLHDHEAWSSSGSSPIQYLKRQTRSSPVLQHKISETLESRHHKIKTGSPGSEV
  VTLQQFLEESNKLTSVQIKSSSQENLLDEVMKSLSVSSDFLGKDKPVSCGLARSVSGKTP
  GDFYDRRTTKPEFLRPGPRKTEDTYFISSAGKPTPGTQGKIKLVKESSLSRQSKDSNPYA
  TLPRASSVISTAEGTTRRTSIHDFLTKDSRLPISVDSPPAAADSNTTAASNVDKVQESRN
  SKSRSREQQSS

• Sequence length: 1871

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	30392057
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Peho syndrome	PEHO syndrome	rs387906799, rs672601368, rs797045164, rs148890852	26917597
Peho-like syndrome	PEHO-like syndrome	rs879255649
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar atrophy	Cerebellar atrophy
Congenital epicanthus	Congenital Epicanthus
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Pachygyria	Pachygyria
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome		26917597, 30392057
Status epilepticus	Status Epilepticus