GSN (gelsolin)

Gene

• Entrez ID: 2934
• Gene name: Gelsolin
• Gene symbol: GSN
• Synonyms: ADF, AGEL, AMYLD4
• Chromosome: 9
• Chromosome location: 9q33.2
• Summary: The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909715	G>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, upstream transcript variant, missense variant
rs1554821138	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002639	hsa-miR-124-3p	Microarray	15685193
MIRT018068	hsa-miR-335-5p	Microarray	18185580
MIRT002639	hsa-miR-124-3p	Microarray	18668037
MIRT002639	hsa-miR-124-3p	Microarray	15685193
MIRT629489	hsa-miR-8485	HITS-CLIP	23313552
MIRT629488	hsa-miR-603	HITS-CLIP	23313552
MIRT629487	hsa-miR-103b	HITS-CLIP	23313552
MIRT002639	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT688021	hsa-miR-548an	HITS-CLIP	23313552
MIRT688020	hsa-miR-8080	HITS-CLIP	23313552
MIRT688019	hsa-miR-9500	HITS-CLIP	23313552
MIRT688018	hsa-miR-584-3p	HITS-CLIP	23313552
MIRT688017	hsa-miR-3126-5p	HITS-CLIP	23313552
MIRT688016	hsa-miR-6875-5p	HITS-CLIP	23313552
MIRT688015	hsa-miR-4419a	HITS-CLIP	23313552
MIRT688014	hsa-miR-4510	HITS-CLIP	23313552
MIRT688013	hsa-miR-6127	HITS-CLIP	23313552
MIRT688012	hsa-miR-6129	HITS-CLIP	23313552
MIRT688011	hsa-miR-6130	HITS-CLIP	23313552
MIRT688010	hsa-miR-6133	HITS-CLIP	23313552
MIRT688009	hsa-miR-4533	HITS-CLIP	23313552
MIRT688008	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT688007	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT688006	hsa-miR-6834-5p	HITS-CLIP	23313552
MIRT688005	hsa-miR-1226-5p	HITS-CLIP	23313552
MIRT688004	hsa-miR-6734-5p	HITS-CLIP	23313552
MIRT688003	hsa-miR-1304-5p	HITS-CLIP	23313552
MIRT629489	hsa-miR-8485	HITS-CLIP	23824327
MIRT629488	hsa-miR-603	HITS-CLIP	23824327
MIRT629487	hsa-miR-103b	HITS-CLIP	23824327
MIRT629486	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT629485	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT629484	hsa-miR-558	HITS-CLIP	23824327
MIRT629483	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT629482	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT629481	hsa-miR-5691	HITS-CLIP	23824327
MIRT629480	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT737455	hsa-miR-141-3p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), RNA-seq, qRT-PCR	31996784
MIRT629489	hsa-miR-8485	HITS-CLIP	23313552
MIRT629488	hsa-miR-603	HITS-CLIP	23313552
MIRT629487	hsa-miR-103b	HITS-CLIP	23313552
MIRT002639	hsa-miR-124-3p	HITS-CLIP	23313552
MIRT688021	hsa-miR-548an	HITS-CLIP	23313552
MIRT688020	hsa-miR-8080	HITS-CLIP	23313552
MIRT688019	hsa-miR-9500	HITS-CLIP	23313552
MIRT688018	hsa-miR-584-3p	HITS-CLIP	23313552
MIRT688017	hsa-miR-3126-5p	HITS-CLIP	23313552
MIRT688016	hsa-miR-6875-5p	HITS-CLIP	23313552
MIRT688015	hsa-miR-4419a	HITS-CLIP	23313552
MIRT688014	hsa-miR-4510	HITS-CLIP	23313552
MIRT688013	hsa-miR-6127	HITS-CLIP	23313552
MIRT688012	hsa-miR-6129	HITS-CLIP	23313552
MIRT688011	hsa-miR-6130	HITS-CLIP	23313552
MIRT688010	hsa-miR-6133	HITS-CLIP	23313552
MIRT688009	hsa-miR-4533	HITS-CLIP	23313552
MIRT688008	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT688007	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT688006	hsa-miR-6834-5p	HITS-CLIP	23313552
MIRT688005	hsa-miR-1226-5p	HITS-CLIP	23313552
MIRT688004	hsa-miR-6734-5p	HITS-CLIP	23313552
MIRT688003	hsa-miR-1304-5p	HITS-CLIP	23313552
MIRT629489	hsa-miR-8485	HITS-CLIP	23824327
MIRT629488	hsa-miR-603	HITS-CLIP	23824327
MIRT629487	hsa-miR-103b	HITS-CLIP	23824327
MIRT629486	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT629485	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT629484	hsa-miR-558	HITS-CLIP	23824327
MIRT629483	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT629482	hsa-miR-6828-3p	HITS-CLIP	23824327
MIRT629481	hsa-miR-5691	HITS-CLIP	23824327
MIRT629480	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT1036115	hsa-miR-1183	CLIP-seq
MIRT1036116	hsa-miR-124	CLIP-seq
MIRT1036117	hsa-miR-1261	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT1036119	hsa-miR-1304	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT1036121	hsa-miR-3607-3p	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036124	hsa-miR-4521	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT1036129	hsa-miR-4753-5p	CLIP-seq
MIRT1036130	hsa-miR-4757-5p	CLIP-seq
MIRT1036131	hsa-miR-506	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT2007213	hsa-miR-141	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT2007214	hsa-miR-200a	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT2007213	hsa-miR-141	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT2007214	hsa-miR-200a	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT2239780	hsa-miR-4775	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq
MIRT1036115	hsa-miR-1183	CLIP-seq
MIRT1036117	hsa-miR-1261	CLIP-seq
MIRT1036118	hsa-miR-129-5p	CLIP-seq
MIRT1036120	hsa-miR-1909	CLIP-seq
MIRT1036121	hsa-miR-3607-3p	CLIP-seq
MIRT1036122	hsa-miR-4427	CLIP-seq
MIRT1036123	hsa-miR-450b-5p	CLIP-seq
MIRT1036125	hsa-miR-4522	CLIP-seq
MIRT1036126	hsa-miR-4680-3p	CLIP-seq
MIRT1036127	hsa-miR-4708-3p	CLIP-seq
MIRT1036128	hsa-miR-4714-5p	CLIP-seq
MIRT1036132	hsa-miR-507	CLIP-seq
MIRT1036133	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	IEA
GO:0002102	Component	Podosome	IDA	24236012
GO:0003779	Function	Actin binding	IDA	18266911, 24236012
GO:0005509	Function	Calcium ion binding	IMP	14596804
GO:0005515	Function	Protein binding	IPI	10793131, 16531231, 17470807, 17620599, 18689676, 19015515, 19574450, 19666512, 23325791, 32814053
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA	21873635
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	3020431
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	14596804, 19549824, 22952982
GO:0005634	Component	Nucleus	IDA	23729654
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	23575248
GO:0005829	Component	Cytosol	IDA	3020431
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	23575248
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006911	Process	Phagocytosis, engulfment	ISS
GO:0007417	Process	Central nervous system development	IBA	21873635
GO:0007568	Process	Aging	IEA
GO:0008154	Process	Actin polymerization or depolymerization	IBA	21873635
GO:0010628	Process	Positive regulation of gene expression	IMP	22952982
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014891	Process	Striated muscle atrophy	IMP	19549824
GO:0015629	Component	Actin cytoskeleton	IBA	21873635
GO:0016528	Component	Sarcoplasm	IDA	19549824
GO:0022617	Process	Extracellular matrix disassembly	IMP	24236012
GO:0030027	Component	Lamellipodium	IEA
GO:0030031	Process	Cell projection assembly	IBA	21873635
GO:0030041	Process	Actin filament polymerization	IDA	3020431
GO:0030041	Process	Actin filament polymerization	IMP	23729654
GO:0030042	Process	Actin filament depolymerization	IDA	30568254
GO:0030155	Process	Regulation of cell adhesion	IEA
GO:0030478	Component	Actin cap	IDA	23575248
GO:0030864	Component	Cortical actin cytoskeleton	IDA	24236012
GO:0030864	Component	Cortical actin cytoskeleton	IDA	23575248
GO:0031648	Process	Protein destabilization	IMP	19549824
GO:0032991	Component	Protein-containing complex	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0035994	Process	Response to muscle stretch	ISS	30568254
GO:0036313	Function	Phosphatidylinositol 3-kinase catalytic subunit binding	IPI	30568254
GO:0042060	Process	Wound healing	IEA
GO:0042246	Process	Tissue regeneration	IEA
GO:0042989	Process	Sequestering of actin monomers	IMP	19666531
GO:0043209	Component	Myelin sheath	IEA
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045010	Process	Actin nucleation	IEA
GO:0045159	Function	Myosin II binding	IPI	23325791
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046597	Process	Negative regulation of viral entry into host cell	IMP	23575248
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051014	Process	Actin filament severing	IBA	21873635
GO:0051014	Process	Actin filament severing	IDA	3020431
GO:0051014	Process	Actin filament severing	IMP	23575248
GO:0051015	Function	Actin filament binding	IBA	21873635
GO:0051016	Process	Barbed-end actin filament capping	IBA	21873635
GO:0051127	Process	Positive regulation of actin nucleation	IMP	19666531
GO:0051593	Process	Response to folic acid	IEA
GO:0051693	Process	Actin filament capping	IMP	19666531
GO:0051693	Process	Actin filament capping	ISS
GO:0055119	Process	Relaxation of cardiac muscle	ISS	30568254
GO:0060271	Process	Cilium assembly	IMP	20393563
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 21362503, 23533145
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:0071346	Process	Cellular response to interferon-gamma	IEA
GO:0071801	Process	Regulation of podosome assembly	IMP	24236012
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0086003	Process	Cardiac muscle cell contraction	ISS	30568254
GO:0090527	Process	Actin filament reorganization	IGI	23575248
GO:0097017	Process	Renal protein absorption	IMP	24601799
GO:0097284	Process	Hepatocyte apoptotic process	IMP	22952982
GO:1902174	Process	Positive regulation of keratinocyte apoptotic process	IMP	23729654
GO:1903903	Process	Regulation of establishment of T cell polarity	IMP	23575248
GO:1903906	Process	Regulation of plasma membrane raft polarization	IMP	23575248
GO:1903909	Process	Regulation of receptor clustering	IMP	23575248
GO:1903923	Process	Positive regulation of protein processing in phagocytic vesicle	ISS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS
GO:1990000	Process	Amyloid fibril formation	IMP	19904968, 24601799
GO:2001269	Process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP	22952982

Other IDs

• MIM: 137350
• HGNC: 4620
• e!Ensembl: ENSG00000148180

Protein

• UniProt ID: P06396
• Protein name: Gelsolin (AGEL) (Actin-depolymerizing factor) (ADF) (Brevin)
• Protein function: Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as wel
• PDB: 1C0F, 1C0G, 1D4X, 1DEJ, 1EQY, 1ESV, 1H1V, 1KCQ, 1MDU, 1NLV, 1NM1, 1NMD, 1P8X, 1P8Z, 1SOL, 1T44, 1YAG, 1YVN, 2FF3, 2FF6, 2FH1, 2FH2, 2FH3, 2FH4, 3A5L, 3A5M, 3A5N, 3A5O, 3CI5, 3CIP, 3CJB, 3CJC, 3FFK, 3FFN, 3TU5, 4PKG, 4PKH, 4PKI, 4S10, 4Z94, 5FAE, 5FAF, 5H3M, 5H3N, 5O2Z, 5UBO, 5ZZ0, 6H1F, 6JCO, 6JEG, 6JEH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00626	Gelsolin	75 → 158	Gelsolin repeat	Domain
  PF00626	Gelsolin	196 → 271	Gelsolin repeat	Domain
  PF00626	Gelsolin	313 → 390	Gelsolin repeat	Domain
  PF00626	Gelsolin	454 → 536	Gelsolin repeat	Domain
  PF00626	Gelsolin	574 → 642	Gelsolin repeat	Domain
  PF00626	Gelsolin	679 → 757	Gelsolin repeat	Domain

• Sequence:

  MAPHRPAPALLCALSLALCALSLPVRAATASRGASQAGAPQGRVPEARPNSMVVEHPEFL
  KAGKEPGLQIWRVEKFDLVPVPTNLYGDFFTGDAYVILKTVQLRNGNLQYDLHYWLGNEC
  SQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGYFKSGLKYKKGGVASGFKHVV
  PNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSNSNRYERLKA
  TQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKEDAANRKLAKL
  YKVSNGAGTMSVSLVADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQANTEERKAALK
  TASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDPDQTDGLGLSYLSSHIANVERV
  PFDAATLHTSTAMAAQHGMDDDGTGQKQIWRIEGSNKVPVDPATYGQFYGGDSYIILYNY
  RHGGRQGQIIYNWQGAQSTQDEVAASAILTAQLDEELGGTPVQSRVVQGKEPAHLMSLFG
  GKPMIIYKGGTSREGGQTAPASTRLFQVRANSAGATRAVEVLPKAGALNSNDAFVLKTPS
  AAYLWVGTGASEAEKTGAQELLRVLRAQPVQVAEGSEPDGFWEALGGKAAYRTSPRLKDK
  KMDAHPPRLFACSNKIGRFVIEEVPGELMQEDLATDDVMLLDTWDQVFVWVGKDSQEEEK
  TEALTSAKRYIETDPANRDRRTPITVVKQGFEPPSFVGWFLGWDDDYWSVDPLDRAMAEL
  AA

• Sequence length: 782

Pathways

KEGG:

Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Viral carcinogenesis

Reactome:

Caspase-mediated cleavage of cytoskeletal proteins
Neutrophil degranulation
Amyloid fiber formation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Amyloidosis	Amyloidosis, Amyloidosis, familial visceral	rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101	2176164, 6975851
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
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs397514444, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
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
Cerebral amyloid angiopathy	Cerebral Amyloid Angiopathy, Gsn-Related	rs104894417, rs63750579, rs63750264, rs63750066, rs63750921, rs80356710, rs80356711, rs398122414, rs1555782101
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Mesothelioma	Mesothelioma	rs121907908, rs387906350, rs387906351	15920167
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	18924182
Polyneuropathy	Polyneuropathy	rs1597597437
Renal insufficiency	Renal Insufficiency	rs1596536873
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	15542240

Unknown
Disease name	Disease term	dbSNP ID	References
Amyloid cranial neuropathy with lattice corneal dystrophy	AGel amyloidosis
Blepharochalasis	Blepharochalasis
Bulbar palsy	Bulbar palsy
Corneal ulcer	Corneal Ulcer
Coronary syndrome	Acute Coronary Syndrome	rs4986893	21751358
Diffuse skin atrophy	Diffuse skin atrophy
Distal peripheral sensory neuropathy	Distal peripheral sensory neuropathy
Dysarthria	Dysarthria
Facial paralysis	Facial paralysis
Amyloid polyneuropathy	Familial Amyloid Polyneuropathy, Type IV, Familial Amyloid Polyneuropathy, Type V		22068858, 16258946, 22622774
Keratoconjunctivitis sicca	Keratoconjunctivitis Sicca
Lattice corneal dystrophy	Lattice corneal dystrophy Type II
Mental depression	Depressive disorder	rs587778876, rs587778877
Meretoja syndrome	Meretoja syndrome		8388189, 2176164, 6610849, 22938848, 1338910, 2176481
Nail dystrophy	Dystrophia unguium
Paratuberculosis	Paratuberculosis		22633222
Senile cardiac amyloidosis	Senile cardiac amyloidosis
Sleep apnea	Sleep Apnea Syndromes