ITSN2 (intersectin 2)

Gene

• Entrez ID: 50618
• Gene name: Intersectin 2
• Gene symbol: ITSN2
• Synonyms (NCBI Gene): PRO2015, SH3D1B, SH3P18, SWA, SWAP
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may fun

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553340826	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019375	hsa-miR-148b-3p	Microarray	17612493
MIRT022783	hsa-miR-124-3p	Microarray	18668037
MIRT030879	hsa-miR-21-5p	Microarray	18591254
MIRT045590	hsa-miR-149-5p	CLASH	23622248
MIRT044995	hsa-miR-186-5p	CLASH	23622248
MIRT036170	hsa-miR-320c	CLASH	23622248
MIRT475079	hsa-miR-144-3p	PAR-CLIP	24398324
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT475075	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	24398324
MIRT475072	hsa-miR-126-5p	PAR-CLIP	24398324
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	24398324
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	24398324
MIRT475079	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT475075	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT475079	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT475075	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	26701625
MIRT475072	hsa-miR-126-5p	PAR-CLIP	26701625
MIRT475075	hsa-miR-128-3p	PAR-CLIP	26701625
MIRT475075	hsa-miR-128-3p	PAR-CLIP	26701625
MIRT475079	hsa-miR-144-3p	PAR-CLIP	26701625
MIRT475079	hsa-miR-144-3p	PAR-CLIP	26701625
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	26701625
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	26701625
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	26701625
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	26701625
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	26701625
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	26701625
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	26701625
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	26701625
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	26701625
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	26701625
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	26701625
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	26701625
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	26701625
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	26701625
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	26701625
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	26701625
MIRT475079	hsa-miR-144-3p	PAR-CLIP	24398324
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	24398324
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	24398324
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	24398324
MIRT475075	hsa-miR-128-3p	PAR-CLIP	24398324
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	24398324
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	24398324
MIRT475072	hsa-miR-126-5p	PAR-CLIP	24398324
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	24398324
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	24398324
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	24398324
MIRT475079	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT475075	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT475079	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT475078	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT475077	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT475076	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT475075	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT475074	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT475073	hsa-miR-551b-5p	PAR-CLIP	23592263
MIRT475072	hsa-miR-126-5p	PAR-CLIP	23592263
MIRT475071	hsa-miR-16-1-3p	PAR-CLIP	23592263
MIRT475070	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT475069	hsa-miR-3692-3p	PAR-CLIP	23592263
MIRT1075484	hsa-miR-200b	CLIP-seq
MIRT1075485	hsa-miR-200c	CLIP-seq
MIRT1075486	hsa-miR-3691-3p	CLIP-seq
MIRT1075487	hsa-miR-429	CLIP-seq
MIRT1075488	hsa-miR-1260	CLIP-seq
MIRT1075489	hsa-miR-1260b	CLIP-seq
MIRT1075490	hsa-miR-128	CLIP-seq
MIRT1075491	hsa-miR-144	CLIP-seq
MIRT1075492	hsa-miR-148a	CLIP-seq
MIRT1075493	hsa-miR-148b	CLIP-seq
MIRT1075494	hsa-miR-152	CLIP-seq
MIRT1075495	hsa-miR-188-3p	CLIP-seq
MIRT1075496	hsa-miR-27a	CLIP-seq
MIRT1075497	hsa-miR-27b	CLIP-seq
MIRT1075498	hsa-miR-3156-3p	CLIP-seq
MIRT1075499	hsa-miR-3686	CLIP-seq
MIRT1075500	hsa-miR-3692	CLIP-seq
MIRT1075501	hsa-miR-411	CLIP-seq
MIRT1075502	hsa-miR-4276	CLIP-seq
MIRT1075503	hsa-miR-4301	CLIP-seq
MIRT1075504	hsa-miR-4652-3p	CLIP-seq
MIRT1075505	hsa-miR-4667-3p	CLIP-seq
MIRT1075506	hsa-miR-4725-5p	CLIP-seq
MIRT1075507	hsa-miR-4753-3p	CLIP-seq
MIRT1075508	hsa-miR-4793-5p	CLIP-seq
MIRT1075509	hsa-miR-504	CLIP-seq
MIRT1075510	hsa-miR-511	CLIP-seq
MIRT1075511	hsa-miR-654-3p	CLIP-seq
MIRT1075512	hsa-miR-1303	CLIP-seq
MIRT1075513	hsa-miR-216a	CLIP-seq
MIRT1075514	hsa-miR-513c	CLIP-seq
MIRT1075515	hsa-miR-514b-5p	CLIP-seq
MIRT2554138	hsa-miR-1	CLIP-seq
MIRT2554139	hsa-miR-206	CLIP-seq
MIRT2554140	hsa-miR-2467-3p	CLIP-seq
MIRT2554141	hsa-miR-3673	CLIP-seq
MIRT2554142	hsa-miR-409-5p	CLIP-seq
MIRT2554143	hsa-miR-4257	CLIP-seq
MIRT2554144	hsa-miR-4530	CLIP-seq
MIRT2554145	hsa-miR-4790-3p	CLIP-seq
MIRT2554146	hsa-miR-613	CLIP-seq
MIRT2554147	hsa-miR-922	CLIP-seq
MIRT2554138	hsa-miR-1	CLIP-seq
MIRT2683063	hsa-miR-181a	CLIP-seq
MIRT2683064	hsa-miR-181b	CLIP-seq
MIRT2683065	hsa-miR-181c	CLIP-seq
MIRT2683066	hsa-miR-181d	CLIP-seq
MIRT2554139	hsa-miR-206	CLIP-seq
MIRT2554140	hsa-miR-2467-3p	CLIP-seq
MIRT2683067	hsa-miR-3138	CLIP-seq
MIRT2554141	hsa-miR-3673	CLIP-seq
MIRT2554142	hsa-miR-409-5p	CLIP-seq
MIRT2554143	hsa-miR-4257	CLIP-seq
MIRT2683068	hsa-miR-4262	CLIP-seq
MIRT2683069	hsa-miR-4272	CLIP-seq
MIRT2554144	hsa-miR-4530	CLIP-seq
MIRT2554145	hsa-miR-4790-3p	CLIP-seq
MIRT2554146	hsa-miR-613	CLIP-seq
MIRT2683070	hsa-miR-642b	CLIP-seq
MIRT2554147	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	17696407
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	20479469
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005905	Component	Clathrin-coated pit	IBA	21873635
GO:0006897	Process	Endocytosis	IBA	21873635
GO:0016032	Process	Viral process	IEA
GO:0016197	Process	Endosomal transport	IBA	21873635
GO:0030154	Process	Cell differentiation	IEA
GO:0042734	Component	Presynaptic membrane	IBA	21873635
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0060090	Function	Molecular adaptor activity	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097708	Component	Intracellular vesicle	IBA	21873635
GO:0098793	Component	Presynapse	IEA
GO:0150007	Process	Clathrin-dependent synaptic vesicle endocytosis	IBA	21873635
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003

Other IDs

• MIM: 604464
• HGNC: 6184
• e!Ensembl: ENSG00000198399

Protein

• UniProt ID: Q9NZM3
• Protein name: Intersectin-2 (SH3 domain-containing protein 1B) (SH3P18) (SH3P18-like WASP-associated protein)
• Protein function: Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination
• PDB: 1J3T, 1UDL, 1UE9, 1UFF, 1UHF, 3GF9, 3JZY, 4IIO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12763	EF-hand_4	15 → 106	Cytoskeletal-regulatory complex EF hand	Family
  PF12763	EF-hand_4	241 → 333	Cytoskeletal-regulatory complex EF hand	Family
  PF14604	SH3_9	764 → 814	Variant SH3 domain	Domain
  PF07653	SH3_2	902 → 954	Variant SH3 domain	Domain
  PF00018	SH3_1	987 → 1031	SH3 domain	Domain
  PF00018	SH3_1	1059 → 1109	SH3 domain	Domain
  PF14604	SH3_9	1134 → 1182	Variant SH3 domain	Domain
  PF00621	RhoGEF	1213 → 1393	RhoGEF domain	Domain
  PF16652	PH_13	1412 → 1566	Pleckstrin homology domain	Domain
  PF00168	C2	1569 → 1670	C2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). Ubiquitous. Isoform 1 is primarily expressed in adult heart and liver. {ECO:0000269|PubMed:23999003}.
• Sequence:

  MMAQFPTAMNGGPNMWAITSEERTKHDRQFDNLKPSGGYITGDQARNFFLQSGLPAPVLA
  EIWALSDLNKDGKMDQQEFSIAMKLIKLKLQGQQLPVVLPPIMKQPPMFSPLISARFGMG
  SMPNLSIPQPLPPAAPITSLSSATSGTNLPPLMMPTPLVPSVSTSSLPNGTASLIQPLPI
  PYSSSTLPHGSSYSLMMGGFGGASIQKAQSLIDLGSSSSTSSTASLSGNSPKTGTSEWAV
  PQPTRLKYRQKFNTLDKSMSGYLSGFQARNALLQSNLSQTQLATIWTLADVDGDGQLKAE
  EFILAMHLTDMAKAGQPLPLTLPPELVPPSFRGGKQIDSINGTLPSYQKMQEEEPQKKLP
  VTFEDKRKANYERGNMELEKRRQALMEQQQREAERKAQKEKEEWERKQRELQEQEWKKQL
  ELEKRLEKQRELERQREEERRKDIERREAAKQELERQRRLEWERIRRQELLNQKNREQEE
  IVRLNSKKKNLHLELEALNGKHQQISGRLQDVRLKKQTQKTELEVLDKQCDLEIMEIKQL
  QQELQEYQNKLIYLVPEKQLLNERIKNMQFSNTPDSGVSLLHKKSLEKEELCQRLKEQLD
  ALEKETASKLSEMDSFNNQLKCGNMDDSVLQCLLSLLSCLNNLFLLLKELRETYNTQQLA
  LEQLYKIKRDKLKEIERKRLELMQKKKLEDEAARKAKQGKENLWKENLRKEEEEKQKRLQ
  EEKTQEKIQEEERKAEEKQRKDKDTLKAEEKKRETASVLVNYRALYPFEARNHDEMSFNS
  GDIIQVDEKTVGEPGWLYGSFQGNFGWFPCNYVEKMPSSENEKAVSPKKALLPPTVSLSA
  TSTSSEPLSSNQPASVTDYQNVSFSNLTVNTSWQKKSAFTRTVSPGSVSPIHGQGQVVEN
  LKAQALCSWTAKKDNHLNFSKHDIITVLEQQENWWFGEVHGGRGWFPKSYVKIIPGSEVK
  REEPEALYAAVNKKPTSAAYSVGEEYIALYPYSSVEPGDLTFTEGEEILVTQKDGEWWTG
  SIGDRSGIFPSNYVKPKDQESFGSASKSGASNKKPEIAQVTSAYVASGSEQLSLAPGQLI
  LILKKNTSGWWQGELQARGKKRQKGWFPASHVKLLGPSSERATPAFHPVCQVIAMYDYAA
  NNEDELSFSKGQLINVMNKDDPDWWQGEINGVTGLFPSNYVKMTTDSDPSQQWCADLQTL
  DTMQPIERKRQGYIHELIQTEERYMADLQLVVEVFQKRMAESGFLTEGEMALIFVNWKEL
  IMSNTKLLKALRVRKKTGGEKMPVQMIGDILAAELSHMQAYIRFCSCQLNGAALLQQKTD
  EDTDFKEFLKKLASDPRCKGMPLSSFLLKPMQRITRYPLLIRSILENTPESHADHSSLKL
  ALERAEELCSQVNEGVREKENSDRLEWIQAHVQCEGLAEQLIFNSLTNCLGPRKLLHSGK
  LYKTKSNKELHGFLFNDFLLLTYMVKQFAVSSGSEKLFSSKSNAQFKMYKTPIFLNEVLV
  KLPTDPSSDEPVFHISHIDRVYTLRTDNINERTAWVQKIKAASEQYIDTEKKKREKAYQA
  RSQKTSGIGRLMVHVIEATELKACKPNGKSNPYCEISMGSQSYTTRTIQDTLNPKWNFNC
  QFFIKDLYQDVLCLTLFDRDQFSPDDFLGRTEIPVAKIRTEQESKGPMTRRLLLHEVPTG
  EVWVRFDLQLFEQKTLL

• Sequence length: 1697

Pathways

Reactome:

Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26830138
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	18925433
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	18925433
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	18925433
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475

Unknown
Disease term	Disease name	Evidence	References	Source
Asthma	Asthma		29273806	ClinVar, GWAS
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome			GWAS
Nasal polyposis	Nasal polyposis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	33953791
Autoimmune Diseases	Associate	34406596
Crohn Disease	Associate	32547537
Fibrosarcoma	Associate	11156619
Inflammation	Associate	30803045, 31647141, 34406596
Inflammatory Bowel Diseases	Associate	32547537
Ischemic Stroke	Stimulate	31647141
Multiple Organ Failure	Associate	31880027
Pancreatitis	Associate	31880027
Prader Willi Syndrome	Associate	11156619
Sepsis	Associate	30803045
Severe Acute Respiratory Syndrome	Stimulate	31880027
Sjogren's Syndrome	Associate	24097067
Spondylitis Ankylosing	Associate	34406596