EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1)

Gene

• Entrez ID: 58513
• Gene name: Epidermal growth factor receptor pathway substrate 15 like 1
• Gene symbol: EPS15L1
• Synonyms (NCBI Gene): EPS15R
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT514105	hsa-miR-3609	PAR-CLIP	20371350
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT514102	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT514097	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT514095	hsa-miR-4803	PAR-CLIP	20371350
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT514091	hsa-miR-329-5p	PAR-CLIP	20371350
MIRT514089	hsa-miR-4257	PAR-CLIP	20371350
MIRT514090	hsa-miR-759	PAR-CLIP	20371350
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	20371350
MIRT514105	hsa-miR-3609	PAR-CLIP	21572407
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT514102	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT514097	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT514095	hsa-miR-4803	PAR-CLIP	21572407
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT514091	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT514089	hsa-miR-4257	PAR-CLIP	21572407
MIRT514090	hsa-miR-759	PAR-CLIP	21572407
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	21572407
MIRT514105	hsa-miR-3609	PAR-CLIP	21572407
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT514102	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT514097	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT514095	hsa-miR-4803	PAR-CLIP	21572407
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT514091	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT514089	hsa-miR-4257	PAR-CLIP	21572407
MIRT514090	hsa-miR-759	PAR-CLIP	21572407
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	21572407
MIRT514105	hsa-miR-3609	PAR-CLIP	23446348
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT514102	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT514097	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	23446348
MIRT514095	hsa-miR-4803	PAR-CLIP	23446348
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	23446348
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	23446348
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	23446348
MIRT514091	hsa-miR-329-5p	PAR-CLIP	23446348
MIRT514089	hsa-miR-4257	PAR-CLIP	23446348
MIRT514090	hsa-miR-759	PAR-CLIP	23446348
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	23446348
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	23446348
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	23446348
MIRT451007	hsa-miR-6779-3p	PAR-CLIP	23592263
MIRT451006	hsa-miR-4292	PAR-CLIP	23592263
MIRT451005	hsa-miR-6791-5p	PAR-CLIP	23592263
MIRT451004	hsa-miR-5739	PAR-CLIP	23592263
MIRT451003	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT451002	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT451001	hsa-miR-558	PAR-CLIP	23592263
MIRT450999	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT451000	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT450998	hsa-miR-4306	PAR-CLIP	23592263
MIRT450997	hsa-miR-4644	PAR-CLIP	23592263
MIRT450996	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT450995	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT450994	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT450993	hsa-miR-8085	PAR-CLIP	23592263
MIRT450992	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT450991	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT450990	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT514105	hsa-miR-3609	PAR-CLIP	20371350
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT514102	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT514097	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT514095	hsa-miR-4803	PAR-CLIP	20371350
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT514091	hsa-miR-329-5p	PAR-CLIP	20371350
MIRT514089	hsa-miR-4257	PAR-CLIP	20371350
MIRT514090	hsa-miR-759	PAR-CLIP	20371350
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	20371350
MIRT514105	hsa-miR-3609	PAR-CLIP	21572407
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT514102	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT514097	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT514095	hsa-miR-4803	PAR-CLIP	21572407
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT514091	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT514089	hsa-miR-4257	PAR-CLIP	21572407
MIRT514090	hsa-miR-759	PAR-CLIP	21572407
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	21572407
MIRT514105	hsa-miR-3609	PAR-CLIP	21572407
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	21572407
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT514102	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT514097	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	21572407
MIRT514095	hsa-miR-4803	PAR-CLIP	21572407
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT514091	hsa-miR-329-5p	PAR-CLIP	21572407
MIRT514089	hsa-miR-4257	PAR-CLIP	21572407
MIRT514090	hsa-miR-759	PAR-CLIP	21572407
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	21572407
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	21572407
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	21572407
MIRT514105	hsa-miR-3609	PAR-CLIP	23446348
MIRT514106	hsa-miR-548ah-5p	PAR-CLIP	23446348
MIRT514104	hsa-miR-106a-5p	PAR-CLIP	23446348
MIRT514103	hsa-miR-106b-5p	PAR-CLIP	23446348
MIRT514102	hsa-miR-17-5p	PAR-CLIP	23446348
MIRT514101	hsa-miR-20a-5p	PAR-CLIP	23446348
MIRT514100	hsa-miR-20b-5p	PAR-CLIP	23446348
MIRT514099	hsa-miR-519d-3p	PAR-CLIP	23446348
MIRT514098	hsa-miR-526b-3p	PAR-CLIP	23446348
MIRT514097	hsa-miR-93-5p	PAR-CLIP	23446348
MIRT514096	hsa-miR-4796-3p	PAR-CLIP	23446348
MIRT514095	hsa-miR-4803	PAR-CLIP	23446348
MIRT514094	hsa-miR-519a-3p	PAR-CLIP	23446348
MIRT514093	hsa-miR-519b-3p	PAR-CLIP	23446348
MIRT514092	hsa-miR-519c-3p	PAR-CLIP	23446348
MIRT514091	hsa-miR-329-5p	PAR-CLIP	23446348
MIRT514089	hsa-miR-4257	PAR-CLIP	23446348
MIRT514090	hsa-miR-759	PAR-CLIP	23446348
MIRT514087	hsa-miR-2467-3p	PAR-CLIP	23446348
MIRT514088	hsa-miR-6801-5p	PAR-CLIP	23446348
MIRT514086	hsa-miR-3678-3p	PAR-CLIP	23446348
MIRT451007	hsa-miR-6779-3p	PAR-CLIP	23592263
MIRT451006	hsa-miR-4292	PAR-CLIP	23592263
MIRT451005	hsa-miR-6791-5p	PAR-CLIP	23592263
MIRT451004	hsa-miR-5739	PAR-CLIP	23592263
MIRT451003	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT451002	hsa-miR-1233-3p	PAR-CLIP	23592263
MIRT451001	hsa-miR-558	PAR-CLIP	23592263
MIRT450999	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT451000	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT450998	hsa-miR-4306	PAR-CLIP	23592263
MIRT450997	hsa-miR-4644	PAR-CLIP	23592263
MIRT450996	hsa-miR-885-3p	PAR-CLIP	23592263
MIRT450995	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT450994	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT450993	hsa-miR-8085	PAR-CLIP	23592263
MIRT450992	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT450991	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT450990	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT967320	hsa-miR-34a	CLIP-seq
MIRT967321	hsa-miR-34c-5p	CLIP-seq
MIRT967322	hsa-miR-4280	CLIP-seq
MIRT967323	hsa-miR-449a	CLIP-seq
MIRT967324	hsa-miR-449b	CLIP-seq
MIRT967325	hsa-miR-452	CLIP-seq
MIRT967326	hsa-miR-4676-3p	CLIP-seq
MIRT967327	hsa-miR-4738-3p	CLIP-seq
MIRT967328	hsa-miR-4795-5p	CLIP-seq
MIRT967329	hsa-miR-548g	CLIP-seq
MIRT967330	hsa-miR-600	CLIP-seq
MIRT2221092	hsa-miR-4428	CLIP-seq
MIRT2524803	hsa-miR-1915	CLIP-seq
MIRT2524804	hsa-miR-2276	CLIP-seq
MIRT2524805	hsa-miR-4668-3p	CLIP-seq
MIRT2524806	hsa-miR-4726-3p	CLIP-seq
MIRT2524807	hsa-miR-548c-3p	CLIP-seq
MIRT2524808	hsa-miR-605	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16159959, 19262564, 25416956
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006897	Process	Endocytosis	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0016197	Process	Endosomal transport	IBA	21873635
GO:0030132	Component	Clathrin coat of coated pit	IBA	21873635
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	TAS
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0061024	Process	Membrane organization	TAS

Other IDs

• MIM: 616826
• HGNC: 24634
• e!Ensembl: ENSG00000127527

Protein

• UniProt ID: Q9UBC2
• Protein name: Epidermal growth factor receptor substrate 15-like 1 (Eps15-related protein) (Eps15R)
• Protein function: Seems to be a constitutive component of clathrin-coated pits that is required for receptor-mediated endocytosis. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR); internalization of ITGB1 as DAB2-dependent cargo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12763	EF-hand_4	17 → 93	Cytoskeletal-regulatory complex EF hand	Family
  PF12763	EF-hand_4	122 → 218	Cytoskeletal-regulatory complex EF hand	Family
  PF12763	EF-hand_4	273 → 365	Cytoskeletal-regulatory complex EF hand	Family

• Sequence:

  MAAPLIPLSQQIPTGNSLYESYYKQVDPAYTGRVGASEAALFLKKSGLSDIILGKIWDLA
  DPEGKGFLDKQGFYVALRLVACAQSGHEVTLSNLNLSMPPPKFHDTSSPLMVTPPSAEAH
  WAVRVEEKAKFDGIFESLLPINGLLSGDKVKPVLMNSKLPLDVLGRVWDLSDIDKDGHLD
  RDEFAVAMHLVYRALEKEPVPSALPPSLIPPSKRKKTVFPGAVPVLPASPPPKDSLRSTP
  SHGSVSSLNSTGSLSPKHSLKQTQPTVNWVVPVADKMRFDEIFLKTDLDLDGYVSGQEVK
  EIFMHSGLTQNLLAHIWALADTRQTGKLSKDQFALAMYFIQQKVSKGIDPPQVLSPDMVP
  PSERGTPGPDSSGSLGSGEFTGVKELDDISQEIAQLQREKYSLEQDIREKEEAIRQKTSE
  VQELQNDLDRETSSLQELEAQKQDAQDRLDEMDQQKAKLRDMLSDVRQKCQDETQMISSL
  KTQIQSQESDLKSQEDDLNRAKSELNRLQQEETQLEQSIQAGRVQLETIIKSLKSTQDEI
  NQARSKLSQLHESRQEAHRSLEQYDQVLDGAHGASLTDLANLSEGVSLAERGSFGAMDDP
  FKNKALLFSNNTQELHPDPFQTEDPFKSDPFKGADPFKGDPFQNDPFAEQQTTSTDPFGG
  DPFKESDPFRGSATDDFFKKQTKNDPFTSDPFTKNPSLPSKLDPFESSDPFSSSSVSSKG
  SDPFGTLDPFGSGSFNSAEGFADFSQMSKPPPSGPFTSSLGGAGFSDDPFKSKQDTPALP
  PKKPAPPRPKPPSGKSTPVSQLGSADFPEAPDPFQPLGADSGDPFQSKKGFGDPFSGKDP
  FVPSSAAKPSKASASGFADFTSVS

• Sequence length: 864

Pathways

KEGG:

Endocytosis

Reactome:

EGFR downregulation
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Ectrodactyly	Ectrodactyly	rs1850314485	29023680
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	24076602, 22190364

Unknown
Disease term	Disease name	Evidence	References	Source
Split-Hand-Foot Malformation	split hand-foot malformation			GenCC
Multiple Sclerosis	Multiple Sclerosis			GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Asthma	Asthma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Neoplasms	Associate	33275145, 36366450