WDFY3 (WD repeat and FYVE domain containing 3)

Gene

• Entrez ID: 23001
• Gene name: WD repeat and FYVE domain containing 3
• Gene symbol: WDFY3
• Synonyms (NCBI Gene): ALFY, BCHS, MCPH18, ZFYVE25
• Disease Acronyms (UniProt): MCPH18
• Chromosome: 4
• Chromosome location: 4q21.23
• Summary: This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553924800	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1578183451	C>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051573	hsa-let-7e-5p	CLASH	23622248
MIRT050648	hsa-miR-19a-3p	CLASH	23622248
MIRT1489600	hsa-miR-1183	CLIP-seq
MIRT1489601	hsa-miR-1208	CLIP-seq
MIRT1489602	hsa-miR-1264	CLIP-seq
MIRT1489603	hsa-miR-1270	CLIP-seq
MIRT1489604	hsa-miR-1297	CLIP-seq
MIRT1489605	hsa-miR-140-3p	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT1489608	hsa-miR-181a	CLIP-seq
MIRT1489609	hsa-miR-181b	CLIP-seq
MIRT1489610	hsa-miR-181c	CLIP-seq
MIRT1489611	hsa-miR-181d	CLIP-seq
MIRT1489612	hsa-miR-200b	CLIP-seq
MIRT1489613	hsa-miR-200c	CLIP-seq
MIRT1489614	hsa-miR-2110	CLIP-seq
MIRT1489615	hsa-miR-216a	CLIP-seq
MIRT1489616	hsa-miR-26a	CLIP-seq
MIRT1489617	hsa-miR-26b	CLIP-seq
MIRT1489618	hsa-miR-3148	CLIP-seq
MIRT1489619	hsa-miR-3150a-3p	CLIP-seq
MIRT1489620	hsa-miR-3157-5p	CLIP-seq
MIRT1489621	hsa-miR-320e	CLIP-seq
MIRT1489622	hsa-miR-3617	CLIP-seq
MIRT1489623	hsa-miR-3675-5p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT1489625	hsa-miR-3927	CLIP-seq
MIRT1489626	hsa-miR-3929	CLIP-seq
MIRT1489627	hsa-miR-4252	CLIP-seq
MIRT1489628	hsa-miR-4260	CLIP-seq
MIRT1489629	hsa-miR-4269	CLIP-seq
MIRT1489630	hsa-miR-4272	CLIP-seq
MIRT1489631	hsa-miR-429	CLIP-seq
MIRT1489632	hsa-miR-432	CLIP-seq
MIRT1489633	hsa-miR-4419b	CLIP-seq
MIRT1489634	hsa-miR-4438	CLIP-seq
MIRT1489635	hsa-miR-4447	CLIP-seq
MIRT1489636	hsa-miR-4450	CLIP-seq
MIRT1489637	hsa-miR-4465	CLIP-seq
MIRT1489638	hsa-miR-4472	CLIP-seq
MIRT1489639	hsa-miR-4477a	CLIP-seq
MIRT1489640	hsa-miR-4478	CLIP-seq
MIRT1489641	hsa-miR-4514	CLIP-seq
MIRT1489642	hsa-miR-452	CLIP-seq
MIRT1489643	hsa-miR-4531	CLIP-seq
MIRT1489644	hsa-miR-4663	CLIP-seq
MIRT1489645	hsa-miR-4676-3p	CLIP-seq
MIRT1489646	hsa-miR-4690-3p	CLIP-seq
MIRT1489647	hsa-miR-4692	CLIP-seq
MIRT1489648	hsa-miR-4694-3p	CLIP-seq
MIRT1489649	hsa-miR-4723-5p	CLIP-seq
MIRT1489650	hsa-miR-4727-5p	CLIP-seq
MIRT1489651	hsa-miR-4742-5p	CLIP-seq
MIRT1489652	hsa-miR-4753-3p	CLIP-seq
MIRT1489653	hsa-miR-4768-5p	CLIP-seq
MIRT1489654	hsa-miR-4769-3p	CLIP-seq
MIRT1489655	hsa-miR-488	CLIP-seq
MIRT1489656	hsa-miR-511	CLIP-seq
MIRT1489657	hsa-miR-522	CLIP-seq
MIRT1489658	hsa-miR-548m	CLIP-seq
MIRT1489659	hsa-miR-620	CLIP-seq
MIRT1489660	hsa-miR-641	CLIP-seq
MIRT1489661	hsa-miR-9	CLIP-seq
MIRT1489662	hsa-miR-944	CLIP-seq
MIRT1489601	hsa-miR-1208	CLIP-seq
MIRT2147602	hsa-miR-1226	CLIP-seq
MIRT2147603	hsa-miR-1229	CLIP-seq
MIRT2147604	hsa-miR-1267	CLIP-seq
MIRT2147605	hsa-miR-1279	CLIP-seq
MIRT2147606	hsa-miR-1302	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT1489615	hsa-miR-216a	CLIP-seq
MIRT2147607	hsa-miR-3074-5p	CLIP-seq
MIRT1489621	hsa-miR-320e	CLIP-seq
MIRT2147608	hsa-miR-3591-5p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT2147609	hsa-miR-3914	CLIP-seq
MIRT2147610	hsa-miR-3918	CLIP-seq
MIRT1489625	hsa-miR-3927	CLIP-seq
MIRT2147611	hsa-miR-4268	CLIP-seq
MIRT2147612	hsa-miR-4270	CLIP-seq
MIRT2147613	hsa-miR-4297	CLIP-seq
MIRT2147614	hsa-miR-4298	CLIP-seq
MIRT1489632	hsa-miR-432	CLIP-seq
MIRT2147615	hsa-miR-4422	CLIP-seq
MIRT2147616	hsa-miR-4426	CLIP-seq
MIRT2147617	hsa-miR-4441	CLIP-seq
MIRT2147618	hsa-miR-4446-3p	CLIP-seq
MIRT2147619	hsa-miR-4448	CLIP-seq
MIRT2147620	hsa-miR-4512	CLIP-seq
MIRT1489642	hsa-miR-452	CLIP-seq
MIRT2147621	hsa-miR-4647	CLIP-seq
MIRT2147622	hsa-miR-4662b	CLIP-seq
MIRT2147623	hsa-miR-4675	CLIP-seq
MIRT1489645	hsa-miR-4676-3p	CLIP-seq
MIRT2147624	hsa-miR-4685-5p	CLIP-seq
MIRT2147625	hsa-miR-4687-3p	CLIP-seq
MIRT1489648	hsa-miR-4694-3p	CLIP-seq
MIRT2147626	hsa-miR-4699-5p	CLIP-seq
MIRT2147627	hsa-miR-4709-3p	CLIP-seq
MIRT2147628	hsa-miR-4733-3p	CLIP-seq
MIRT2147629	hsa-miR-4741	CLIP-seq
MIRT2147630	hsa-miR-4744	CLIP-seq
MIRT1489652	hsa-miR-4753-3p	CLIP-seq
MIRT2147631	hsa-miR-4768-3p	CLIP-seq
MIRT1489653	hsa-miR-4768-5p	CLIP-seq
MIRT2147632	hsa-miR-4778-3p	CLIP-seq
MIRT2147633	hsa-miR-4793-3p	CLIP-seq
MIRT2147634	hsa-miR-486-5p	CLIP-seq
MIRT1489657	hsa-miR-522	CLIP-seq
MIRT2147635	hsa-miR-548c-3p	CLIP-seq
MIRT1489658	hsa-miR-548m	CLIP-seq
MIRT2147636	hsa-miR-590-3p	CLIP-seq
MIRT2147637	hsa-miR-653	CLIP-seq
MIRT2147638	hsa-miR-891b	CLIP-seq
MIRT2147602	hsa-miR-1226	CLIP-seq
MIRT2147605	hsa-miR-1279	CLIP-seq
MIRT2367949	hsa-miR-1290	CLIP-seq
MIRT2147606	hsa-miR-1302	CLIP-seq
MIRT2367950	hsa-miR-1305	CLIP-seq
MIRT2367951	hsa-miR-139-5p	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT2367952	hsa-miR-2682	CLIP-seq
MIRT2367953	hsa-miR-30a	CLIP-seq
MIRT2367954	hsa-miR-30b	CLIP-seq
MIRT2367955	hsa-miR-30c	CLIP-seq
MIRT2367956	hsa-miR-30d	CLIP-seq
MIRT2367957	hsa-miR-30e	CLIP-seq
MIRT2367958	hsa-miR-3167	CLIP-seq
MIRT2367959	hsa-miR-3179	CLIP-seq
MIRT2367960	hsa-miR-3202	CLIP-seq
MIRT1489621	hsa-miR-320e	CLIP-seq
MIRT2367961	hsa-miR-3618	CLIP-seq
MIRT1489623	hsa-miR-3675-5p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT2147609	hsa-miR-3914	CLIP-seq
MIRT2367962	hsa-miR-3936	CLIP-seq
MIRT1489627	hsa-miR-4252	CLIP-seq
MIRT2147611	hsa-miR-4268	CLIP-seq
MIRT2367963	hsa-miR-4274	CLIP-seq
MIRT2147613	hsa-miR-4297	CLIP-seq
MIRT2147614	hsa-miR-4298	CLIP-seq
MIRT2147615	hsa-miR-4422	CLIP-seq
MIRT2367964	hsa-miR-4424	CLIP-seq
MIRT1489634	hsa-miR-4438	CLIP-seq
MIRT2147619	hsa-miR-4448	CLIP-seq
MIRT2367965	hsa-miR-448	CLIP-seq
MIRT2367966	hsa-miR-449c	CLIP-seq
MIRT1489641	hsa-miR-4514	CLIP-seq
MIRT1489642	hsa-miR-452	CLIP-seq
MIRT2367967	hsa-miR-455-3p	CLIP-seq
MIRT2367968	hsa-miR-455-5p	CLIP-seq
MIRT1489645	hsa-miR-4676-3p	CLIP-seq
MIRT1489647	hsa-miR-4692	CLIP-seq
MIRT1489648	hsa-miR-4694-3p	CLIP-seq
MIRT2367969	hsa-miR-4747-5p	CLIP-seq
MIRT2147631	hsa-miR-4768-3p	CLIP-seq
MIRT2367970	hsa-miR-4789-5p	CLIP-seq
MIRT2367971	hsa-miR-490-5p	CLIP-seq
MIRT2367972	hsa-miR-5095	CLIP-seq
MIRT2367973	hsa-miR-518a-5p	CLIP-seq
MIRT2367974	hsa-miR-527	CLIP-seq
MIRT2367975	hsa-miR-532-5p	CLIP-seq
MIRT2367976	hsa-miR-591	CLIP-seq
MIRT2367977	hsa-miR-876-5p	CLIP-seq
MIRT2396921	hsa-miR-140-5p	CLIP-seq
MIRT2367952	hsa-miR-2682	CLIP-seq
MIRT2396922	hsa-miR-299-5p	CLIP-seq
MIRT2396923	hsa-miR-3065-5p	CLIP-seq
MIRT2367953	hsa-miR-30a	CLIP-seq
MIRT2367954	hsa-miR-30b	CLIP-seq
MIRT2367955	hsa-miR-30c	CLIP-seq
MIRT2367956	hsa-miR-30d	CLIP-seq
MIRT2367957	hsa-miR-30e	CLIP-seq
MIRT2396924	hsa-miR-3124-3p	CLIP-seq
MIRT2396925	hsa-miR-3545-5p	CLIP-seq
MIRT2396926	hsa-miR-3611	CLIP-seq
MIRT2396927	hsa-miR-3616-5p	CLIP-seq
MIRT2396928	hsa-miR-3647-5p	CLIP-seq
MIRT1489623	hsa-miR-3675-5p	CLIP-seq
MIRT1489627	hsa-miR-4252	CLIP-seq
MIRT2396929	hsa-miR-4328	CLIP-seq
MIRT2367964	hsa-miR-4424	CLIP-seq
MIRT1489634	hsa-miR-4438	CLIP-seq
MIRT2396930	hsa-miR-4460	CLIP-seq
MIRT2367966	hsa-miR-449c	CLIP-seq
MIRT1489641	hsa-miR-4514	CLIP-seq
MIRT2396931	hsa-miR-4670-3p	CLIP-seq
MIRT1489647	hsa-miR-4692	CLIP-seq
MIRT2396932	hsa-miR-4727-3p	CLIP-seq
MIRT2367970	hsa-miR-4789-5p	CLIP-seq
MIRT2367972	hsa-miR-5095	CLIP-seq
MIRT2396933	hsa-miR-573	CLIP-seq
MIRT2434685	hsa-miR-129-5p	CLIP-seq
MIRT2434686	hsa-miR-300	CLIP-seq
MIRT2396923	hsa-miR-3065-5p	CLIP-seq
MIRT2434687	hsa-miR-381	CLIP-seq
MIRT2434688	hsa-miR-3919	CLIP-seq
MIRT2396929	hsa-miR-4328	CLIP-seq
MIRT2434689	hsa-miR-450b-5p	CLIP-seq
MIRT2434690	hsa-miR-4666-3p	CLIP-seq
MIRT2434691	hsa-miR-4711-5p	CLIP-seq
MIRT2434692	hsa-miR-4756-3p	CLIP-seq
MIRT2434693	hsa-miR-507	CLIP-seq
MIRT2434694	hsa-miR-557	CLIP-seq
MIRT2434695	hsa-miR-561	CLIP-seq
MIRT2661476	hsa-miR-1207-3p	CLIP-seq
MIRT2147605	hsa-miR-1279	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT2661477	hsa-miR-188-5p	CLIP-seq
MIRT2661478	hsa-miR-204	CLIP-seq
MIRT2661479	hsa-miR-211	CLIP-seq
MIRT2661480	hsa-miR-218	CLIP-seq
MIRT2661481	hsa-miR-3152-3p	CLIP-seq
MIRT2661482	hsa-miR-3622a-3p	CLIP-seq
MIRT2661483	hsa-miR-3622b-3p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT2147609	hsa-miR-3914	CLIP-seq
MIRT2661484	hsa-miR-4263	CLIP-seq
MIRT2147611	hsa-miR-4268	CLIP-seq
MIRT2147612	hsa-miR-4270	CLIP-seq
MIRT1489630	hsa-miR-4272	CLIP-seq
MIRT2396929	hsa-miR-4328	CLIP-seq
MIRT2147617	hsa-miR-4441	CLIP-seq
MIRT2147619	hsa-miR-4448	CLIP-seq
MIRT2661485	hsa-miR-4452	CLIP-seq
MIRT2661486	hsa-miR-4659a-3p	CLIP-seq
MIRT2661487	hsa-miR-4659b-3p	CLIP-seq
MIRT2147632	hsa-miR-4778-3p	CLIP-seq
MIRT2661488	hsa-miR-4799-5p	CLIP-seq
MIRT2147635	hsa-miR-548c-3p	CLIP-seq
MIRT2661489	hsa-miR-576-5p	CLIP-seq
MIRT2661490	hsa-miR-578	CLIP-seq
MIRT2661491	hsa-miR-581	CLIP-seq
MIRT2147636	hsa-miR-590-3p	CLIP-seq
MIRT2661492	hsa-miR-628-5p	CLIP-seq
MIRT2661493	hsa-miR-642b	CLIP-seq
MIRT2661476	hsa-miR-1207-3p	CLIP-seq
MIRT2147604	hsa-miR-1267	CLIP-seq
MIRT2147605	hsa-miR-1279	CLIP-seq
MIRT2695159	hsa-miR-1283	CLIP-seq
MIRT2695160	hsa-miR-1324	CLIP-seq
MIRT2695161	hsa-miR-141	CLIP-seq
MIRT1489606	hsa-miR-146a	CLIP-seq
MIRT1489607	hsa-miR-146b-5p	CLIP-seq
MIRT2661477	hsa-miR-188-5p	CLIP-seq
MIRT2695162	hsa-miR-200a	CLIP-seq
MIRT2661478	hsa-miR-204	CLIP-seq
MIRT2661479	hsa-miR-211	CLIP-seq
MIRT2695163	hsa-miR-221	CLIP-seq
MIRT2695164	hsa-miR-222	CLIP-seq
MIRT2695165	hsa-miR-2276	CLIP-seq
MIRT2661481	hsa-miR-3152-3p	CLIP-seq
MIRT1489624	hsa-miR-3689d	CLIP-seq
MIRT2147609	hsa-miR-3914	CLIP-seq
MIRT2695166	hsa-miR-3922-5p	CLIP-seq
MIRT2661484	hsa-miR-4263	CLIP-seq
MIRT2147611	hsa-miR-4268	CLIP-seq
MIRT2147612	hsa-miR-4270	CLIP-seq
MIRT1489630	hsa-miR-4272	CLIP-seq
MIRT2695167	hsa-miR-4310	CLIP-seq
MIRT2147617	hsa-miR-4441	CLIP-seq
MIRT2147619	hsa-miR-4448	CLIP-seq
MIRT2661485	hsa-miR-4452	CLIP-seq
MIRT2695168	hsa-miR-4640-5p	CLIP-seq
MIRT2661486	hsa-miR-4659a-3p	CLIP-seq
MIRT2661487	hsa-miR-4659b-3p	CLIP-seq
MIRT2695169	hsa-miR-4688	CLIP-seq
MIRT2695170	hsa-miR-4708-3p	CLIP-seq
MIRT2695171	hsa-miR-4726-5p	CLIP-seq
MIRT2695172	hsa-miR-4772-3p	CLIP-seq
MIRT2147632	hsa-miR-4778-3p	CLIP-seq
MIRT2661488	hsa-miR-4799-5p	CLIP-seq
MIRT2695173	hsa-miR-518d-5p	CLIP-seq
MIRT2695174	hsa-miR-519b-5p	CLIP-seq
MIRT2695175	hsa-miR-519c-5p	CLIP-seq
MIRT2695176	hsa-miR-520c-5p	CLIP-seq
MIRT2695177	hsa-miR-526a	CLIP-seq
MIRT2695178	hsa-miR-544	CLIP-seq
MIRT2695179	hsa-miR-548ac	CLIP-seq
MIRT2695180	hsa-miR-548ae	CLIP-seq
MIRT2695181	hsa-miR-548aj	CLIP-seq
MIRT2695182	hsa-miR-548am	CLIP-seq
MIRT2147635	hsa-miR-548c-3p	CLIP-seq
MIRT2695183	hsa-miR-548d-3p	CLIP-seq
MIRT2695184	hsa-miR-548v	CLIP-seq
MIRT2695185	hsa-miR-548x	CLIP-seq
MIRT2695186	hsa-miR-548z	CLIP-seq
MIRT2661489	hsa-miR-576-5p	CLIP-seq
MIRT2147636	hsa-miR-590-3p	CLIP-seq
MIRT2661492	hsa-miR-628-5p	CLIP-seq
MIRT2661493	hsa-miR-642b	CLIP-seq
MIRT2147637	hsa-miR-653	CLIP-seq
MIRT2695187	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	18083104, 20168092, 20417604, 22458338, 24668264, 25814554
GO:0005545	Function	1-phosphatidylinositol binding	IDA	15292400
GO:0005635	Component	Nuclear envelope	IDA	15292400, 20417604
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	15292400, 20168092
GO:0005776	Component	Autophagosome	IMP	20168092
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0007275	Process	Multicellular organism development	IEA
GO:0016234	Component	Inclusion body	IDA	20168092
GO:0016605	Component	PML body	IDA	20168092
GO:0019898	Component	Extrinsic component of membrane	IDA	15292400
GO:0030424	Component	Axon	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0034274	Component	Atg12-Atg5-Atg16 complex	IDA	20417604
GO:0035973	Process	Aggrephagy	IMP	20168092, 20417604
GO:0043204	Component	Perikaryon	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0097635	Component	Extrinsic component of autophagosome membrane	IDA	15292400

Other IDs

• MIM: 617485
• HGNC: 20751
• e!Ensembl: ENSG00000163625

Protein

• UniProt ID: Q8IZQ1
• Protein name: WD repeat and FYVE domain-containing protein 3 (Autophagy-linked FYVE protein) (Alfy)
• Protein function: Required for selective macroautophagy (aggrephagy). Acts as an adapter protein by linking specific proteins destined for degradation to the core autophagic machinery members, such as the ATG5-ATG12-ATG16L E3-like ligase, SQSTM1 and LC3 (PubMed:2
• PDB: 3WIM, 6W9N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14844	PH_BEACH	2585 → 2656	PH domain associated with Beige/BEACH	Domain
  PF02138	Beach	2696 → 2976	Beige/BEACH domain	Family
  PF01363	FYVE	3449 → 3515	FYVE zinc finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in osteoclast and their mononuclear precursors (at protein level). {ECO:0000269|PubMed:20971078}.
• Sequence:

  MNMVKRIMGRPRQEECSPQDNALGLMHLRRLFTELCHPPRHMTQKEQEEKLYMMLPVFNR
  VFGNAPPNTMTEKFSDLLQFTTQVSRLMVTEIRRRASNKSTEAASRAIVQFLEINQSEEA
  SRGWMLLTTINLLASSGQKTVDCMTTMSVPSTLVKCLYLFFDLPHVPEAVGGAQNELPLA
  ERRGLLQKVFVQILVKLCSFVSPAEELAQKDDLQLLFSAITSWCPPYNLPWRKSAGEVLM
  TISRHGLSVNVVKYIHEKECLSTCVQNMQQSDDLSPLEIVEMFAGLSCFLKDSSDVSQTL
  LDDFRIWQGYNFLCDLLLRLEQAKEAESKDALKDLVNLITSLTTYGVSELKPAGITTGAP
  FLLPGFAVPQPAGKGHSVRNVQAFAVLQNAFLKAKTSFLAQIILDAITNIYMADNANYFI
  LESQHTLSQFAEKISKLPEVQNKYFEMLEFVVFSLNYIPCKELISVSILLKSSSSYHCSI
  IAMKTLLKFTRHDYIFKDVFREVGLLEVMVNLLHKYAALLKDPTQALNEQGDSRNNSSVE
  DQKHLALLVMETLTVLLQGSNTNAGIFREFGGARCAHNIVKYPQCRQHALMTIQQLVLSP
  NGDDDMGTLLGLMHSAPPTELQLKTDILRALLSVLRESHRSRTVFRKVGGFVYITSLLVA
  MERSLSCPPKNGWEKVNQNQVFELLHTVFCTLTAAMRYEPANSHFFKTEIQYEKLADAVR
  FLGCFSDLRKISAMNVFPSNTQPFQRLLEEDVISIESVSPTLRHCSKLFIYLYKVATDSF
  DSRAEQIPPCLTSESSLPSPWGTPALSRKRHAYHSVSTPPVYPPKNVADLKLHVTTSSLQ
  SSDAVIIHPGAMLAMLDLLASVGSVTQPEHALDLQLAVANILQSLVHTERNQQVMCEAGL
  HARLLQRCSAALADEDHSLHPPLQRMFERLASQALEPMVLREFLRLASPLNCGAWDKKLL
  KQYRVHKPSSLSYEPEMRSSMITSLEGLGTDNVFSLHEDNHYRISKSLVKSAEGSTVPLT
  RVKCLVSMTTPHDIRLHGSSVTPAFVEFDTSLEGFGCLFLPSLAPHNAPTNNTVTTGLID
  GAVVSGIGSGERFFPPPSGLSYSSWFCIEHFSSPPNNHPVRLLTVVRRANSSEQHYVCLA
  IVLSAKDRSLIVSTKEELLQNYVDDFSEESSFYEILPCCARFRCGELIIEGQWHHLVLVM
  SKGMLKNSTAALYIDGQLVNTVKLHYVHSTPGGSGSANPPVVSTVYAYIGTPPAQRQIAS
  LVWRLGPTHFLEEVLPSSNVTTIYELGPNYVGSFQAVCMPCKDAKSEGVVPSPVSLVPEE
  KVSFGLYALSVSSLTVARIRKVYNKLDSKAIAKQLGISSHENATPVKLIHNSAGHLNGSA
  RTIGAALIGYLGVRTFVPKPVATTLQYVGGAAAILGLVAMASDVEGLYAAVKALVCVVKS
  NPLASKEMERIKGYQLLAMLLKKKRSLLNSHILHLTFSLVGTVDSGHETSIIPNSTAFQD
  LLCDFEVWLHAPYELHLSLFEHFIELLTESSEASKNAKLMREFQLIPKLLLTLRDMSLSQ
  PTIAAISNVLSFLLQGFPSSNDLLRFGQFISSTLPTFAVCEKFVVMEINNEEKLDTGTEE
  EFGGLVSANLILLRNRLLDILLKLIYTSKEKTSINLQACEELVKTLGFDWIMMFMEEHLH
  STTVTAAMRILVVLLSNQSILIKFKEGLSGGGWLEQTDSVLTNKIGTVLGFNVGRSAGGR
  STVREINRDACHFPGFPVLQSFLPKHTNVPALYFLLMALFLQQPVSELPENLQVSVPVIS
  CRSKQGCQFDLDSIWTFIFGVPASSGTVVSSIHNVCTEAVFLLLGMLRSMLTSPWQSEEE
  GSWLREYPVTLMQFFRYLYHNVPDLASMWMSPDFLCALAATVFPFNIRPYSEMVTDLDDE
  VGSPAEEFKAFAADTGMNRSQSEYCNVGTKTYLTNHPAKKFVFDFMRVLIIDNLCLTPAS
  KQTPLIDLLLEASPERSTRTQQKEFQTYILDSVMDHLLAADVLLGEDASLPITSGGSYQV
  LVNNVFYFTQRVVDKLWQGMFNKESKLLIDFIIQLIAQSKRRSQGLSLDAVYHCLNRTIL
  YQFSRAHKTVPQQVALLDSLRVLTVNRNLILGPGNHDQEFISCLAHCLINLHVGSNVDGF
  GLEAEARMTTWHIMIPSDIEPDGSYSQDISEGRQLLIKAVNRVWTELIHSKKQVLEELFK
  VTLPVNERGHVDIATARPLIEEAALKCWQNHLAHEKKCISRGEALAPTTQSKLSRVSSGF
  GLSKLTGSRRNRKESGLNKHSLSTQEISQWMFTHIAVVRDLVDTQYKEYQERQQNALKYV
  TEEWCQIECELLRERGLWGPPIGSHLDKWMLEMTEGPCRMRKKMVRNDMFYNHYPYVPET
  EQETNVASEIPSKQPETPDDIPQKKPARYRRAVSYDSKEYYMRLASGNPAIVQDAIVESS
  EGEAAQQEPEHGEDTIAKVKGLVKPPLKRSRSAPDGGDEENQEQLQDQIAEGSSIEEEEK
  TDNATLLRLLEEGEKIQHMYRCARVQGLDTSEGLLLFGKEHFYVIDGFTMTATREIRDIE
  TLPPNMHEPIIPRGARQGPSQLKRTCSIFAYEDIKEVHKRRYLLQPIAVEVFSGDGRNYL
  LAFQKGIRNKVYQRFLAVVPSLTDSSESVSGQRPNTSVEQGSGLLSTLVGEKSVTQRWER
  GEISNFQYLMHLNTLAGRSYNDLMQYPVFPWILADYDSEEVDLTNPKTFRNLAKPMGAQT
  DERLAQYKKRYKDWEDPNGETPAYHYGTHYSSAMIVASYLVRMEPFTQIFLRLQGGHFDL
  ADRMFHSVREAWYSASKHNMADVKELIPEFFYLPEFLFNSNNFDLGCKQNGTKLGDVILP
  PWAKGDPREFIRVHREALECDYVSAHLHEWIDLIFGYKQQGPAAVEAVNVFHHLFYEGQV
  DIYNINDPLKETATIGFINNFGQIPKQLFKKPHPPKRVRSRLNGDNAGISVLPGSTSDKI
  FFHHLDNLRPSLTPVKELKEPVGQIVCTDKGILAVEQNKVLIPPTWNKTFAWGYADLSCR
  LGTYESDKAMTVYECLSEWGQILCAICPNPKLVITGGTSTVVCVWEMGTSKEKAKTVTLK
  QALLGHTDTVTCATASLAYHIIVSGSRDRTCIIWDLNKLSFLTQLRGHRAPVSALCINEL
  TGDIVSCAGTYIHVWSINGNPIVSVNTFTGRSQQIICCCMSEMNEWDTQNVIVTGHSDGV
  VRFWRMEFLQVPETPAPEPAEVLEMQEDCPEAQIGQEAQDEDSSDSEADEQSISQDPKDT
  PSQPSSTSHRPRAASCRATAAWCTDSGSDDSRRWSDQLSLDEKDGFIFVNYSEGQTRAHL
  QGPLSHPHPNPIEVRNYSRLKPGYRWERQLVFRSKLTMHTAFDRKDNAHPAEVTALGISK
  DHSRILVGDSRGRVFSWSVSDQPGRSAADHWVKDEGGDSCSGCSVRFSLTERRHHCRNCG
  QLFCQKCSRFQSEIKRLKISSPVRVCQNCYYNLQHERGSEDGPRNC

• Sequence length: 3526

Pathways

KEGG:

Autophagy - animal

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Mental retardation	Mild Mental Retardation, Moderate 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
Microcephaly	Microcephaly, MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT	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	28191889, 27008544
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889

Unknown
Disease term	Disease name	Evidence	References	Source
Autism Spectrum Disorder	autism spectrum disorder			GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	34130600
Autism Spectrum Disorder	Associate	27824329
Autistic Disorder	Associate	27824329, 30564305
Brain Diseases	Associate	34130600
Carcinoma Ductal	Associate	30959550
Cerebral Hemorrhage	Associate	30836997
Chediak Higashi Syndrome	Associate	34130600
Colorectal Neoplasms	Associate	23045723
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	34130600
Esophageal Neoplasms	Associate	30972633, 32536038
Esophageal Squamous Cell Carcinoma	Associate	32536038
Frontotemporal Dementia	Associate	34130600
Gaucher Disease	Associate	34130600
Gerstmann Straussler Scheinker Disease	Associate	34130600
Glycogen Storage Disease	Associate	34130600
Huntington Disease	Associate	34130600
Leukemia Myeloid Acute	Associate	29021535
Leukemia Promyelocytic Acute	Associate	29021535
Lymphatic Metastasis	Inhibit	32536038
Lymphoma Large B Cell Diffuse	Associate	27835906
Megalencephaly	Associate	30564305
Myocardial Infarction	Associate	33083450
Neoplasms	Associate	30982432
Neoplasms	Inhibit	32401758
Neuroinflammatory Diseases	Associate	30836997
Neuronal Ceroid Lipofuscinoses	Associate	34130600
Niemann Pick Disease Type A	Associate	34130600
Parkinson Disease	Associate	34130600
Periodontal Diseases	Associate	31565070
Retinal Dystrophies	Associate	33302505
Triple Negative Breast Neoplasms	Associate	32401758