RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1)

Gene

• Entrez ID: 22930
• Gene name: RAB3 GTPase activating protein catalytic subunit 1
• Gene symbol: RAB3GAP1
• Synonyms (NCBI Gene): MARTS2, P130, RAB3GAP, RAB3GAP130, WARBM1
• Disease Acronyms (UniProt): MARTS2, WARBM1
• Chromosome: 2
• Chromosome location: 2q21.3
• Summary: This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein media

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853052	C>G,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs145829300	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs267606996	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs532964185	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs577915245	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs587776651	G>A	Pathogenic	Splice donor variant
rs587777152	G>A	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs587777153	->GCTCTCAGATATGGAGTCT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777154	A>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777155	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs730882183	A>G	Pathogenic	Splice acceptor variant
rs730882184	AAAGGAT>TTATTA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs752667359	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs764260054	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs766629205	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs772842361	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs794727324	ACCTT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886043201	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043202	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064794536	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1231893162	->C	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1282248700	GT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1553437083	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553444644	->T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553444935	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558782178	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558792168	A>G	Pathogenic	Splice acceptor variant
rs1558792256	C>G	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558805900	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1573578824	GTCACTG>TTA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030289	hsa-miR-26b-5p	Microarray	19088304
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT447652	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT447651	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT447650	hsa-miR-5582-5p	PAR-CLIP	22100165
MIRT447649	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT447648	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT447647	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT447646	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT447645	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447643	hsa-miR-3672	PAR-CLIP	22100165
MIRT447644	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447642	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT447652	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT447651	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT447650	hsa-miR-5582-5p	PAR-CLIP	22100165
MIRT447649	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT447648	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT447647	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT447646	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT447645	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447643	hsa-miR-3672	PAR-CLIP	22100165
MIRT447644	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447642	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT611918	hsa-miR-8485	HITS-CLIP	23824327
MIRT611917	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT611916	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT611915	hsa-miR-656-3p	HITS-CLIP	23824327
MIRT611914	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT611913	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT447652	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT447651	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT447650	hsa-miR-5582-5p	PAR-CLIP	22100165
MIRT447649	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT447648	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT447647	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT447646	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT447645	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447643	hsa-miR-3672	PAR-CLIP	22100165
MIRT447644	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447642	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT447652	hsa-miR-186-5p	PAR-CLIP	22100165
MIRT447651	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT447650	hsa-miR-5582-5p	PAR-CLIP	22100165
MIRT447649	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT447648	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT447647	hsa-miR-2116-5p	PAR-CLIP	22100165
MIRT447646	hsa-miR-22-5p	PAR-CLIP	22100165
MIRT447645	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447643	hsa-miR-3672	PAR-CLIP	22100165
MIRT447644	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT447642	hsa-miR-4677-5p	PAR-CLIP	22100165
MIRT1284403	hsa-miR-155	CLIP-seq
MIRT1284404	hsa-miR-2964a-5p	CLIP-seq
MIRT1284405	hsa-miR-3127-5p	CLIP-seq
MIRT1284406	hsa-miR-3146	CLIP-seq
MIRT1284407	hsa-miR-3192	CLIP-seq
MIRT1284408	hsa-miR-3199	CLIP-seq
MIRT1284409	hsa-miR-3918	CLIP-seq
MIRT1284410	hsa-miR-4314	CLIP-seq
MIRT1284411	hsa-miR-4646-5p	CLIP-seq
MIRT1284412	hsa-miR-4786-3p	CLIP-seq
MIRT1284413	hsa-miR-4793-5p	CLIP-seq
MIRT1284414	hsa-miR-548ac	CLIP-seq
MIRT1284415	hsa-miR-548ae	CLIP-seq
MIRT1284416	hsa-miR-548aj	CLIP-seq
MIRT1284417	hsa-miR-548am	CLIP-seq
MIRT1284418	hsa-miR-548d-3p	CLIP-seq
MIRT1284419	hsa-miR-548x	CLIP-seq
MIRT1284420	hsa-miR-548z	CLIP-seq
MIRT1284421	hsa-miR-1263	CLIP-seq
MIRT1284422	hsa-miR-1470	CLIP-seq
MIRT1284423	hsa-miR-154	CLIP-seq
MIRT1284424	hsa-miR-2467-3p	CLIP-seq
MIRT1284425	hsa-miR-3123	CLIP-seq
MIRT1284405	hsa-miR-3127-5p	CLIP-seq
MIRT1284426	hsa-miR-361-5p	CLIP-seq
MIRT1284427	hsa-miR-3617	CLIP-seq
MIRT1284428	hsa-miR-3657	CLIP-seq
MIRT1284429	hsa-miR-3664-3p	CLIP-seq
MIRT1284430	hsa-miR-374c	CLIP-seq
MIRT1284409	hsa-miR-3918	CLIP-seq
MIRT1284431	hsa-miR-4287	CLIP-seq
MIRT1284432	hsa-miR-4292	CLIP-seq
MIRT1284433	hsa-miR-4308	CLIP-seq
MIRT1284434	hsa-miR-4469	CLIP-seq
MIRT1284435	hsa-miR-4667-3p	CLIP-seq
MIRT1284436	hsa-miR-4669	CLIP-seq
MIRT1284437	hsa-miR-4685-3p	CLIP-seq
MIRT1284438	hsa-miR-4724-3p	CLIP-seq
MIRT1284439	hsa-miR-485-5p	CLIP-seq
MIRT1284440	hsa-miR-548c-3p	CLIP-seq
MIRT1284441	hsa-miR-582-5p	CLIP-seq
MIRT1284442	hsa-miR-592	CLIP-seq
MIRT1284443	hsa-miR-599	CLIP-seq
MIRT1284444	hsa-miR-641	CLIP-seq
MIRT1284445	hsa-miR-642a	CLIP-seq
MIRT1284446	hsa-miR-655	CLIP-seq
MIRT1921706	hsa-miR-520d-5p	CLIP-seq
MIRT1921707	hsa-miR-524-5p	CLIP-seq
MIRT1284425	hsa-miR-3123	CLIP-seq
MIRT1284439	hsa-miR-485-5p	CLIP-seq
MIRT2084465	hsa-miR-507	CLIP-seq
MIRT2084466	hsa-miR-557	CLIP-seq
MIRT2309566	hsa-miR-101	CLIP-seq
MIRT2309567	hsa-miR-144	CLIP-seq
MIRT2309568	hsa-miR-1912	CLIP-seq
MIRT2309569	hsa-miR-3130-5p	CLIP-seq
MIRT1284426	hsa-miR-361-5p	CLIP-seq
MIRT2309570	hsa-miR-3619-3p	CLIP-seq
MIRT2309571	hsa-miR-377	CLIP-seq
MIRT2309572	hsa-miR-448	CLIP-seq
MIRT2309573	hsa-miR-4482	CLIP-seq
MIRT2309574	hsa-miR-4520a-5p	CLIP-seq
MIRT2309575	hsa-miR-4520b-5p	CLIP-seq
MIRT2309576	hsa-miR-4776-5p	CLIP-seq
MIRT2309577	hsa-miR-4800-5p	CLIP-seq
MIRT2309578	hsa-miR-656	CLIP-seq
MIRT2393350	hsa-miR-450b-5p	CLIP-seq
MIRT2084465	hsa-miR-507	CLIP-seq
MIRT2084466	hsa-miR-557	CLIP-seq
MIRT2432409	hsa-miR-3200-5p	CLIP-seq
MIRT2432410	hsa-miR-4424	CLIP-seq
MIRT2393350	hsa-miR-450b-5p	CLIP-seq
MIRT2432411	hsa-miR-4666-5p	CLIP-seq
MIRT2432412	hsa-miR-4682	CLIP-seq
MIRT2084465	hsa-miR-507	CLIP-seq
MIRT2084466	hsa-miR-557	CLIP-seq
MIRT1284441	hsa-miR-582-5p	CLIP-seq
MIRT2432413	hsa-miR-935	CLIP-seq
MIRT2457626	hsa-miR-1290	CLIP-seq
MIRT2457627	hsa-miR-3167	CLIP-seq
MIRT2457628	hsa-miR-876-5p	CLIP-seq
MIRT1284423	hsa-miR-154	CLIP-seq
MIRT1284404	hsa-miR-2964a-5p	CLIP-seq
MIRT2606320	hsa-miR-3129-3p	CLIP-seq
MIRT2606321	hsa-miR-3152-3p	CLIP-seq
MIRT2606322	hsa-miR-342-3p	CLIP-seq
MIRT1284426	hsa-miR-361-5p	CLIP-seq
MIRT1284427	hsa-miR-3617	CLIP-seq
MIRT2606323	hsa-miR-3670	CLIP-seq
MIRT1284430	hsa-miR-374c	CLIP-seq
MIRT2606324	hsa-miR-3921	CLIP-seq
MIRT2606325	hsa-miR-4311	CLIP-seq
MIRT2606326	hsa-miR-4489	CLIP-seq
MIRT2606327	hsa-miR-4643	CLIP-seq
MIRT2606328	hsa-miR-4653-5p	CLIP-seq
MIRT2606329	hsa-miR-466	CLIP-seq
MIRT2432411	hsa-miR-4666-5p	CLIP-seq
MIRT2606330	hsa-miR-4731-3p	CLIP-seq
MIRT2606331	hsa-miR-4738-3p	CLIP-seq
MIRT1284412	hsa-miR-4786-3p	CLIP-seq
MIRT1284413	hsa-miR-4793-5p	CLIP-seq
MIRT2606332	hsa-miR-4801	CLIP-seq
MIRT2606333	hsa-miR-500a	CLIP-seq
MIRT2606334	hsa-miR-526b	CLIP-seq
MIRT2606335	hsa-miR-548p	CLIP-seq
MIRT1284441	hsa-miR-582-5p	CLIP-seq
MIRT2606336	hsa-miR-586	CLIP-seq
MIRT2606337	hsa-miR-593	CLIP-seq
MIRT2606338	hsa-miR-602	CLIP-seq
MIRT1284444	hsa-miR-641	CLIP-seq
MIRT2606339	hsa-miR-648	CLIP-seq
MIRT1284446	hsa-miR-655	CLIP-seq
MIRT2606340	hsa-miR-888	CLIP-seq
MIRT2432413	hsa-miR-935	CLIP-seq
MIRT1284404	hsa-miR-2964a-5p	CLIP-seq
MIRT2606320	hsa-miR-3129-3p	CLIP-seq
MIRT2606321	hsa-miR-3152-3p	CLIP-seq
MIRT2606322	hsa-miR-342-3p	CLIP-seq
MIRT1284426	hsa-miR-361-5p	CLIP-seq
MIRT1284427	hsa-miR-3617	CLIP-seq
MIRT2606323	hsa-miR-3670	CLIP-seq
MIRT2606324	hsa-miR-3921	CLIP-seq
MIRT2606326	hsa-miR-4489	CLIP-seq
MIRT2606327	hsa-miR-4643	CLIP-seq
MIRT2606328	hsa-miR-4653-5p	CLIP-seq
MIRT2606329	hsa-miR-466	CLIP-seq
MIRT2689253	hsa-miR-4686	CLIP-seq
MIRT2606330	hsa-miR-4731-3p	CLIP-seq
MIRT2606331	hsa-miR-4738-3p	CLIP-seq
MIRT1284412	hsa-miR-4786-3p	CLIP-seq
MIRT1284413	hsa-miR-4793-5p	CLIP-seq
MIRT2606332	hsa-miR-4801	CLIP-seq
MIRT1284439	hsa-miR-485-5p	CLIP-seq
MIRT2606333	hsa-miR-500a	CLIP-seq
MIRT2606334	hsa-miR-526b	CLIP-seq
MIRT2606335	hsa-miR-548p	CLIP-seq
MIRT2606336	hsa-miR-586	CLIP-seq
MIRT2606337	hsa-miR-593	CLIP-seq
MIRT2606338	hsa-miR-602	CLIP-seq
MIRT1284444	hsa-miR-641	CLIP-seq
MIRT2606339	hsa-miR-648	CLIP-seq
MIRT2606340	hsa-miR-888	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	24891604
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	IDA	9030515, 10859313, 16923123
GO:0005096	Function	GTPase activator activity	IMP	24891604
GO:0005515	Function	Protein binding	IPI	22337587
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA	25495476
GO:0005811	Component	Lipid droplet	IDA	25495476
GO:0005829	Component	Cytosol	TAS
GO:0007420	Process	Brain development	IMP	20512159
GO:0021854	Process	Hypothalamus development	IMP	20512159
GO:0031267	Function	Small GTPase binding	IPI	10859313, 24891604
GO:0032991	Component	Protein-containing complex	IDA	24891604
GO:0034389	Process	Lipid droplet organization	IMP	24239381
GO:0043010	Process	Camera-type eye development	IMP	20512159
GO:0043087	Process	Regulation of GTPase activity	IDA	10859313
GO:0043547	Process	Positive regulation of GTPase activity	IBA	21873635
GO:0043547	Process	Positive regulation of GTPase activity	IMP	24891604
GO:0043547	Process	Positive regulation of GTPase activity	ISS
GO:0048172	Process	Regulation of short-term neuronal synaptic plasticity	ISS
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060325	Process	Face morphogenesis	IMP	20512159
GO:0061646	Process	Positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071782	Component	Endoplasmic reticulum tubular network	IDA	24891604
GO:0097051	Process	Establishment of protein localization to endoplasmic reticulum membrane	IMP	24891604
GO:0098794	Component	Postsynapse	IEA
GO:1903061	Process	Positive regulation of protein lipidation	IMP	25495476
GO:1903233	Process	Regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:1903373	Process	Positive regulation of endoplasmic reticulum tubular network organization	IMP	24891604
GO:2000786	Process	Positive regulation of autophagosome assembly	IMP	25495476

Other IDs

• MIM: 602536
• HGNC: 17063
• e!Ensembl: ENSG00000115839

Protein

• UniProt ID: Q15042
• Protein name: Rab3 GTPase-activating protein catalytic subunit (RAB3 GTPase-activating protein 130 kDa subunit) (Rab3-GAP p130) (Rab3-GAP)
• Protein function: Catalytic subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and
• PDB: 8VYB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13890	Rab3-GTPase_cat	612 → 769	Rab3 GTPase-activating protein catalytic subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9030515}.
• Sequence:

  MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEKGIFTSGTWEE
  KSDEISFADFKFSVTHHYLVQESTDKEGKDELLEDVVPQSMQDLLGMNNDFPPRAHCLVR
  WYGLREFVVIAPAAHSDAVLSESKCNLLLSSVSIALGNTGCQVPLFVQIHHKWRRMYVGE
  CQGPGVRTDFEMVHLRKVPNQYTHLSGLLDIFKSKIGCPLTPLPPVSIAIRFTYVLQDWQ
  QYFWPQQPPDIDALVGGEVGGLEFGKLPFGACEDPISELHLATTWPHLTEGIIVDNDVYS
  DLDPIQAPHWSVRVRKAENPQCLLGDFVTEFFKICRRKESTDEILGRSAFEEEGKETADI
  THALSKLTEPASVPIHKLSVSNMVHTAKKKIRKHRGVEESPLNNDVLNTILLFLFPDAVS
  EKPLDGTTSTDNNNPPSESEDYNLYNQFKSAPSDSLTYKLALCLCMINFYHGGLKGVAHL
  WQEFVLEMRFRWENNFLIPGLASGPPDLRCCLLHQKLQMLNCCIERKKARDEGKKTSASD
  VTNIYPGDAGKAGDQLVPDNLKETDKEKGEVGKSWDSWSDSEEEFFECLSDTEELKGNGQ
  ESGKKGGPKEMANLRPEGRLYQHGKLTLLHNGEPLYIPVTQEPAPMTEDLLEEQSEVLAK
  LGTSAEGAHLRARMQSACLLSDMESFKAANPGCSLEDFVRWYSPRDYIEEEVIDEKGNVV
  LKGELSARMKIPSNMWVEAWETAKPIPARRQRRLFDDTREAEKVLHYLAIQKPADLARHL
  LPCVIHAAVLKVKEEESLENISSVKKIIKQIISHSSKVLHFPNPEDKKLEEIIHQITNVE
  ALIARARSLKAKFGTEKCEQEEEKEDLERFVSCLLEQPEVLVTGAGRGHAGRIIHKLFVN
  AQRAAAMTPPEEELKRMGSPEERRQNSVSDFPPPAGREFILRTTVPRPAPYSKALPQRMY
  SVLTKEDFRLAGAFSSDTSFF

• Sequence length: 981

Pathways

Reactome:

COPI-independent Golgi-to-ER retrograde traffic
RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
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
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	23209189
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Mental retardation	Severe intellectual disability, 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
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Spastic diplegia	Little`s Disease	rs672601336
Martsolf syndrome	Martsolf syndrome	rs121434310, rs587777167, rs886039395, rs1553437083, rs1658614059, rs769114540	23420520
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
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	23176487, 23420520, 20512159, 15696165
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
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Warburg micro syndrome	Warburg Sjo Fledelius syndrome	rs730882182, rs730882183, rs587776651, rs137853052, rs137853053, rs267606996, rs730882184, rs387906832, rs587776875, rs387906833, rs1553278569, rs587777151, rs587777152, rs587777153, rs587777154, rs587777155, rs587777157, rs587777158, rs587777159, rs587777160, rs587777168, rs587777169, rs587777170, rs766629205, rs797045905, rs1064794536, rs1553275687, rs1553444644, rs532964185, rs1558782178, rs1558792256, rs1558792168, rs1558805900, rs1573585099, rs764260054, rs1573584395	23420520, 26421802, 20512159, 15696165, 21473985

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Warburg Micro Syndrome	Warburg micro syndrome 1, Warburg micro syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	34130600
Ataxia	Associate	34130600
Bone Diseases Metabolic	Associate	25332050
Brain Diseases	Associate	34130600
Breast Neoplasms	Associate	27512948
Carcinoma Papillary	Associate	36553631
Cardiomyopathies	Associate	27764520
Cataract	Associate	16532399, 36553631
Chediak Higashi Syndrome	Associate	34130600
Colorectal Neoplasms	Associate	32303675
Corneal Diseases	Associate	21979947
Deafness	Associate	28944914
Death Sudden Cardiac	Associate	23593153
Frontotemporal Dementia	Associate	34130600
Gaucher Disease	Associate	34130600
Gerstmann Straussler Scheinker Disease	Associate	34130600
Glaucoma	Associate	28575017
Glycogen Storage Disease	Associate	34130600
Huntington Disease	Associate	34130600
Hypertrichosis	Associate	33910511
Hypogonadism	Associate	16532399, 28944914
Intellectual Disability	Associate	16532399
Keratoconus	Associate	21979947, 28207827
Martsolf syndrome	Associate	16532399
Neurodegenerative Diseases	Associate	21473985
Neuronal Ceroid Lipofuscinoses	Associate	34130600
Niemann Pick Disease Type A	Associate	34130600
Parkinson Disease	Associate	34130600
Pathological Conditions Anatomical	Associate	16532399
Peripheral Nervous System Diseases	Associate	27764520
Skin Abnormalities	Associate	28944914
Thyroid Cancer Papillary	Associate	32065787
Tongue Fissured	Associate	33910511
Warburg Sjo Fledelius syndrome	Associate	16532399, 20512159, 21473985, 27764520, 33466118, 33910511, 36553631
Warburg Sjo Fledelius syndrome	Inhibit	25332050