GFER (growth factor, augmenter of liver regeneration)

Gene

• Entrez ID: 2671
• Gene name: Growth factor, augmenter of liver regeneration
• Gene symbol: GFER
• Synonyms (NCBI Gene): ALR, ERV1, HERV1, HPO, HPO1, HPO2, HSS, MMCHD, MPMCD
• Disease Acronyms (UniProt): HSS, MPMCD
• Chromosome: 16
• Chromosome location: 16p13.3
• Summary: The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (H

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040937	hsa-miR-18a-3p	CLASH	23622248
MIRT037615	hsa-miR-744-5p	CLASH	23622248
MIRT495336	hsa-miR-4511	PAR-CLIP	23708386
MIRT495335	hsa-miR-331-3p	PAR-CLIP	23708386
MIRT495334	hsa-miR-4258	PAR-CLIP	23708386
MIRT495333	hsa-miR-519d-5p	PAR-CLIP	23708386
MIRT495332	hsa-miR-149-5p	PAR-CLIP	23708386
MIRT491335	hsa-miR-9500	PAR-CLIP	23592263
MIRT491334	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT491333	hsa-miR-6786-5p	PAR-CLIP	23592263
MIRT491332	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT491331	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT491330	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT491328	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT491329	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT491327	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT491326	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT491325	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT491324	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT491323	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT491322	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT491321	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT491320	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT491319	hsa-miR-4447	PAR-CLIP	23592263
MIRT491318	hsa-miR-4472	PAR-CLIP	23592263
MIRT491316	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT495336	hsa-miR-4511	PAR-CLIP	23708386
MIRT495335	hsa-miR-331-3p	PAR-CLIP	23708386
MIRT495334	hsa-miR-4258	PAR-CLIP	23708386
MIRT495333	hsa-miR-519d-5p	PAR-CLIP	23708386
MIRT495332	hsa-miR-149-5p	PAR-CLIP	23708386
MIRT491335	hsa-miR-9500	PAR-CLIP	23592263
MIRT491334	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT491333	hsa-miR-6786-5p	PAR-CLIP	23592263
MIRT491332	hsa-miR-1909-3p	PAR-CLIP	23592263
MIRT491331	hsa-miR-6722-3p	PAR-CLIP	23592263
MIRT491330	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT491328	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT491329	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT491327	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT491326	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT491325	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT491324	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT491323	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT491322	hsa-miR-328-5p	PAR-CLIP	23592263
MIRT491321	hsa-miR-6885-5p	PAR-CLIP	23592263
MIRT491320	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT491319	hsa-miR-4447	PAR-CLIP	23592263
MIRT491318	hsa-miR-4472	PAR-CLIP	23592263
MIRT491316	hsa-miR-7109-5p	PAR-CLIP	23592263
MIRT1016581	hsa-miR-106a	CLIP-seq
MIRT1016582	hsa-miR-106b	CLIP-seq
MIRT1016583	hsa-miR-1225-3p	CLIP-seq
MIRT1016584	hsa-miR-1233	CLIP-seq
MIRT1016585	hsa-miR-124	CLIP-seq
MIRT1016586	hsa-miR-17	CLIP-seq
MIRT1016587	hsa-miR-20a	CLIP-seq
MIRT1016588	hsa-miR-20b	CLIP-seq
MIRT1016589	hsa-miR-3138	CLIP-seq
MIRT1016590	hsa-miR-3199	CLIP-seq
MIRT1016591	hsa-miR-339-5p	CLIP-seq
MIRT1016592	hsa-miR-3609	CLIP-seq
MIRT1016593	hsa-miR-3714	CLIP-seq
MIRT1016594	hsa-miR-3910	CLIP-seq
MIRT1016595	hsa-miR-3943	CLIP-seq
MIRT1016596	hsa-miR-425	CLIP-seq
MIRT1016597	hsa-miR-4263	CLIP-seq
MIRT1016598	hsa-miR-4313	CLIP-seq
MIRT1016599	hsa-miR-4434	CLIP-seq
MIRT1016600	hsa-miR-4468	CLIP-seq
MIRT1016601	hsa-miR-4516	CLIP-seq
MIRT1016602	hsa-miR-4520a-3p	CLIP-seq
MIRT1016603	hsa-miR-4521	CLIP-seq
MIRT1016604	hsa-miR-4531	CLIP-seq
MIRT1016605	hsa-miR-4670-3p	CLIP-seq
MIRT1016606	hsa-miR-4740-5p	CLIP-seq
MIRT1016607	hsa-miR-4796-3p	CLIP-seq
MIRT1016608	hsa-miR-4800-5p	CLIP-seq
MIRT1016609	hsa-miR-506	CLIP-seq
MIRT1016610	hsa-miR-519d	CLIP-seq
MIRT1016611	hsa-miR-520g	CLIP-seq
MIRT1016612	hsa-miR-520h	CLIP-seq
MIRT1016613	hsa-miR-548ah	CLIP-seq
MIRT1016614	hsa-miR-642b	CLIP-seq
MIRT1016615	hsa-miR-670	CLIP-seq
MIRT1016616	hsa-miR-759	CLIP-seq
MIRT1016617	hsa-miR-93	CLIP-seq
MIRT2000907	hsa-miR-1227	CLIP-seq
MIRT2000908	hsa-miR-146b-3p	CLIP-seq
MIRT2000909	hsa-miR-149	CLIP-seq
MIRT2000910	hsa-miR-1913	CLIP-seq
MIRT2000911	hsa-miR-3064-5p	CLIP-seq
MIRT2000912	hsa-miR-3173-5p	CLIP-seq
MIRT2000913	hsa-miR-3197	CLIP-seq
MIRT2000914	hsa-miR-324-3p	CLIP-seq
MIRT2000915	hsa-miR-371b-3p	CLIP-seq
MIRT2000916	hsa-miR-4270	CLIP-seq
MIRT2000917	hsa-miR-4286	CLIP-seq
MIRT2000918	hsa-miR-4316	CLIP-seq
MIRT2000919	hsa-miR-4325	CLIP-seq
MIRT2000920	hsa-miR-4441	CLIP-seq
MIRT2000921	hsa-miR-4514	CLIP-seq
MIRT2000922	hsa-miR-455-5p	CLIP-seq
MIRT2000923	hsa-miR-4645-5p	CLIP-seq
MIRT2000924	hsa-miR-4673	CLIP-seq
MIRT2000925	hsa-miR-4679	CLIP-seq
MIRT2000926	hsa-miR-4691-5p	CLIP-seq
MIRT2000927	hsa-miR-4692	CLIP-seq
MIRT2000928	hsa-miR-4707-5p	CLIP-seq
MIRT2000929	hsa-miR-4755-3p	CLIP-seq
MIRT2000930	hsa-miR-4794	CLIP-seq
MIRT2000931	hsa-miR-516a-3p	CLIP-seq
MIRT2000932	hsa-miR-541	CLIP-seq
MIRT2000933	hsa-miR-654-5p	CLIP-seq
MIRT2000934	hsa-miR-874	CLIP-seq
MIRT2000935	hsa-miR-940	CLIP-seq
MIRT2234321	hsa-miR-1200	CLIP-seq
MIRT2234322	hsa-miR-1208	CLIP-seq
MIRT2234323	hsa-miR-1225-5p	CLIP-seq
MIRT2000909	hsa-miR-149	CLIP-seq
MIRT2234324	hsa-miR-1587	CLIP-seq
MIRT2234325	hsa-miR-1976	CLIP-seq
MIRT2000911	hsa-miR-3064-5p	CLIP-seq
MIRT2234326	hsa-miR-3150b-3p	CLIP-seq
MIRT2234327	hsa-miR-3194-3p	CLIP-seq
MIRT2234328	hsa-miR-320e	CLIP-seq
MIRT2234329	hsa-miR-3652	CLIP-seq
MIRT2234330	hsa-miR-378g	CLIP-seq
MIRT2234331	hsa-miR-3914	CLIP-seq
MIRT2234332	hsa-miR-3915	CLIP-seq
MIRT2234333	hsa-miR-3928	CLIP-seq
MIRT2234334	hsa-miR-4324	CLIP-seq
MIRT2234335	hsa-miR-4430	CLIP-seq
MIRT2234336	hsa-miR-4492	CLIP-seq
MIRT2234337	hsa-miR-4498	CLIP-seq
MIRT2234338	hsa-miR-4505	CLIP-seq
MIRT2000921	hsa-miR-4514	CLIP-seq
MIRT2234339	hsa-miR-4640-5p	CLIP-seq
MIRT2234340	hsa-miR-4656	CLIP-seq
MIRT2234341	hsa-miR-4675	CLIP-seq
MIRT2234342	hsa-miR-4689	CLIP-seq
MIRT2000927	hsa-miR-4692	CLIP-seq
MIRT2234343	hsa-miR-4726-5p	CLIP-seq
MIRT2234344	hsa-miR-4731-5p	CLIP-seq
MIRT2234345	hsa-miR-4736	CLIP-seq
MIRT2234346	hsa-miR-4741	CLIP-seq
MIRT2234347	hsa-miR-4779	CLIP-seq
MIRT2234348	hsa-miR-4784	CLIP-seq
MIRT2000930	hsa-miR-4794	CLIP-seq
MIRT2234349	hsa-miR-544b	CLIP-seq
MIRT2234350	hsa-miR-762	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CEBPB	Repression	20690902
CEBPB	Unknown	20382118
FOXA2	Unknown	20382118
HNF4A	Repression	18513187
SP1	Activation	18513187

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IBA	21873635
GO:0005515	Function	Protein binding	IPI	12681488, 23676665, 25416956
GO:0005576	Component	Extracellular region	IEA
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	23676665
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007165	Process	Signal transduction	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0015035	Function	Protein disulfide oxidoreductase activity	IBA	21873635
GO:0015035	Function	Protein disulfide oxidoreductase activity	IDA	22224850
GO:0016971	Function	Flavin-linked sulfhydryl oxidase activity	IBA	21873635
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA	21873635
GO:0050660	Function	Flavin adenine dinucleotide binding	IDA	22224850

Other IDs

• MIM: 600924
• HGNC: 4236
• e!Ensembl: ENSG00000127554

Protein

• UniProt ID: P55789
• Protein name: FAD-linked sulfhydryl oxidase ALR (EC 1.8.3.2) (Augmenter of liver regeneration) (hERV1) (Hepatopoietin)
• Protein function: [Isoform 1]: FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of
• PDB: 3MBG, 3O55, 3TK0, 3U2L, 3U2M, 3U5S, 4LDK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04777	Evr1_Alr	104 → 196	Erv1 / Alr family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle. {ECO:0000269|PubMed:19409522}.
• Sequence:

  MAAPGERGRFHGGNLFFLPGGARSEMMDDLATDARGRGAGRRDAAASASTPAQAPTSDSP
  VAEDASRRRPCRACVDFKTWMRTQQKRDTKFREDCPPDREELGRHSWAVLHTLAAYYPDL
  PTPEQQQDMAQFIHLFSKFYPCEECAEDLRKRLCRNHPDTRTRACFTQWLCHLHNEVNRK
  LGKPDFDCSKVDERWRDGWKDGSCD

• Sequence length: 205

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	rs121908192, rs771809901, rs373135339, rs1555486560, rs1597063051, rs1597063303
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
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
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682	15968720
Mental retardation	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	28155230
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Amyotrophic Lateral Sclerosis	Associate	32779864
Cataract	Associate	19409522
Colorectal Neoplasms	Associate	36181326
Cytochrome c Oxidase Deficiency	Associate	19409522
Developmental Disabilities	Associate	19409522
Diabetes Mellitus	Associate	27994073
Hematologic Neoplasms	Associate	30408048
Kidney Neoplasms	Associate	32025001
Leukemia Myeloid Acute	Associate	32416059
Mitochondrial Diseases	Associate	19409522
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	19409522
Muscular Diseases	Associate	19409522
Respiratory System Abnormalities	Associate	19409522
Spastic paraplegia 15 autosomal recessive	Associate	30081747
Visceral myopathy familial external ophthalmoplegia	Associate	19772189
X Linked Combined Immunodeficiency Diseases	Associate	19409522