EPB41L3 (erythrocyte membrane protein band 4.1 like 3)

Gene

• Entrez ID: 23136
• Gene name: Erythrocyte membrane protein band 4.1 like 3
• Gene symbol: EPB41L3
• Synonyms (NCBI Gene): 4.1B, DAL-1, DAL1
• Chromosome: 18
• Chromosome location: 18p11.31

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006374	hsa-miR-223-3p	Luciferase reporter assay, Western blot	21628394
MIRT006374	hsa-miR-223-3p	Luciferase reporter assay, Western blot	21628394
MIRT006374	hsa-miR-223-3p	Luciferase reporter assay, Western blot	21628394
MIRT051992	hsa-let-7b-5p	CLASH	23622248
MIRT049330	hsa-miR-92a-3p	CLASH	23622248
MIRT037171	hsa-miR-877-3p	CLASH	23622248
MIRT637424	hsa-miR-548u	HITS-CLIP	23824327
MIRT637423	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT637422	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT637421	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT637420	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT551194	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT551193	hsa-miR-551b-5p	PAR-CLIP	21572407
MIRT551192	hsa-miR-5697	PAR-CLIP	21572407
MIRT551191	hsa-miR-4275	PAR-CLIP	21572407
MIRT551190	hsa-miR-627-3p	PAR-CLIP	21572407
MIRT551189	hsa-miR-1297	PAR-CLIP	21572407
MIRT551188	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT551187	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT551186	hsa-miR-4465	PAR-CLIP	21572407
MIRT551185	hsa-miR-498	PAR-CLIP	21572407
MIRT551184	hsa-miR-1305	PAR-CLIP	21572407
MIRT637424	hsa-miR-548u	HITS-CLIP	23824327
MIRT637423	hsa-miR-7161-5p	HITS-CLIP	23824327
MIRT637422	hsa-miR-4524b-3p	HITS-CLIP	23824327
MIRT637421	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT637420	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT551194	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT551193	hsa-miR-551b-5p	PAR-CLIP	21572407
MIRT551192	hsa-miR-5697	PAR-CLIP	21572407
MIRT551191	hsa-miR-4275	PAR-CLIP	21572407
MIRT551190	hsa-miR-627-3p	PAR-CLIP	21572407
MIRT551189	hsa-miR-1297	PAR-CLIP	21572407
MIRT551188	hsa-miR-26a-5p	PAR-CLIP	21572407
MIRT551187	hsa-miR-26b-5p	PAR-CLIP	21572407
MIRT551186	hsa-miR-4465	PAR-CLIP	21572407
MIRT551185	hsa-miR-498	PAR-CLIP	21572407
MIRT551184	hsa-miR-1305	PAR-CLIP	21572407
MIRT965659	hsa-miR-125a-3p	CLIP-seq
MIRT965660	hsa-miR-3665	CLIP-seq
MIRT965661	hsa-miR-4434	CLIP-seq
MIRT965662	hsa-miR-4516	CLIP-seq
MIRT965663	hsa-miR-4531	CLIP-seq
MIRT965664	hsa-miR-657	CLIP-seq
MIRT2220517	hsa-miR-4668-3p	CLIP-seq
MIRT2524342	hsa-miR-1179	CLIP-seq
MIRT2524343	hsa-miR-1245	CLIP-seq
MIRT2524344	hsa-miR-1304	CLIP-seq
MIRT2524345	hsa-miR-141	CLIP-seq
MIRT2524346	hsa-miR-151-3p	CLIP-seq
MIRT2524347	hsa-miR-184	CLIP-seq
MIRT2524348	hsa-miR-19a	CLIP-seq
MIRT2524349	hsa-miR-19b	CLIP-seq
MIRT2524350	hsa-miR-200a	CLIP-seq
MIRT2524351	hsa-miR-2054	CLIP-seq
MIRT2524352	hsa-miR-2113	CLIP-seq
MIRT2524353	hsa-miR-217	CLIP-seq
MIRT2524354	hsa-miR-223	CLIP-seq
MIRT2524355	hsa-miR-300	CLIP-seq
MIRT2524356	hsa-miR-3121-3p	CLIP-seq
MIRT2524357	hsa-miR-329	CLIP-seq
MIRT2524358	hsa-miR-3591-5p	CLIP-seq
MIRT2524359	hsa-miR-3606	CLIP-seq
MIRT2524360	hsa-miR-3607-5p	CLIP-seq
MIRT2524361	hsa-miR-3611	CLIP-seq
MIRT2524362	hsa-miR-3619-3p	CLIP-seq
MIRT2524363	hsa-miR-362-3p	CLIP-seq
MIRT2524364	hsa-miR-3647-3p	CLIP-seq
MIRT2524365	hsa-miR-3685	CLIP-seq
MIRT2524366	hsa-miR-3686	CLIP-seq
MIRT2524367	hsa-miR-381	CLIP-seq
MIRT2524368	hsa-miR-384	CLIP-seq
MIRT2524369	hsa-miR-3940-5p	CLIP-seq
MIRT2524370	hsa-miR-3977	CLIP-seq
MIRT2524371	hsa-miR-409-5p	CLIP-seq
MIRT2524372	hsa-miR-4259	CLIP-seq
MIRT2524373	hsa-miR-4305	CLIP-seq
MIRT2524374	hsa-miR-4471	CLIP-seq
MIRT2524375	hsa-miR-4477b	CLIP-seq
MIRT2524376	hsa-miR-4495	CLIP-seq
MIRT2524377	hsa-miR-4507	CLIP-seq
MIRT2524378	hsa-miR-4539	CLIP-seq
MIRT2524379	hsa-miR-4728-3p	CLIP-seq
MIRT2524380	hsa-miR-4729	CLIP-seq
MIRT2524381	hsa-miR-4775	CLIP-seq
MIRT2524382	hsa-miR-4776-5p	CLIP-seq
MIRT2524383	hsa-miR-4778-5p	CLIP-seq
MIRT2524384	hsa-miR-579	CLIP-seq
MIRT2524385	hsa-miR-582-5p	CLIP-seq
MIRT2524386	hsa-miR-586	CLIP-seq
MIRT2524387	hsa-miR-590-3p	CLIP-seq
MIRT2524388	hsa-miR-642b	CLIP-seq
MIRT2524389	hsa-miR-758	CLIP-seq
MIRT2524390	hsa-miR-760	CLIP-seq
MIRT2524391	hsa-miR-921	CLIP-seq
MIRT2524342	hsa-miR-1179	CLIP-seq
MIRT2524343	hsa-miR-1245	CLIP-seq
MIRT2524344	hsa-miR-1304	CLIP-seq
MIRT2524345	hsa-miR-141	CLIP-seq
MIRT2524346	hsa-miR-151-3p	CLIP-seq
MIRT2524347	hsa-miR-184	CLIP-seq
MIRT2524350	hsa-miR-200a	CLIP-seq
MIRT2524351	hsa-miR-2054	CLIP-seq
MIRT2524352	hsa-miR-2113	CLIP-seq
MIRT2524354	hsa-miR-223	CLIP-seq
MIRT2524355	hsa-miR-300	CLIP-seq
MIRT2524356	hsa-miR-3121-3p	CLIP-seq
MIRT2524357	hsa-miR-329	CLIP-seq
MIRT2524358	hsa-miR-3591-5p	CLIP-seq
MIRT2524359	hsa-miR-3606	CLIP-seq
MIRT2524361	hsa-miR-3611	CLIP-seq
MIRT2524362	hsa-miR-3619-3p	CLIP-seq
MIRT2524363	hsa-miR-362-3p	CLIP-seq
MIRT2524364	hsa-miR-3647-3p	CLIP-seq
MIRT2524365	hsa-miR-3685	CLIP-seq
MIRT2524366	hsa-miR-3686	CLIP-seq
MIRT2524367	hsa-miR-381	CLIP-seq
MIRT2524368	hsa-miR-384	CLIP-seq
MIRT2524369	hsa-miR-3940-5p	CLIP-seq
MIRT2524370	hsa-miR-3977	CLIP-seq
MIRT2524371	hsa-miR-409-5p	CLIP-seq
MIRT2524372	hsa-miR-4259	CLIP-seq
MIRT2524373	hsa-miR-4305	CLIP-seq
MIRT2524374	hsa-miR-4471	CLIP-seq
MIRT2524375	hsa-miR-4477b	CLIP-seq
MIRT2524376	hsa-miR-4495	CLIP-seq
MIRT2524377	hsa-miR-4507	CLIP-seq
MIRT2524378	hsa-miR-4539	CLIP-seq
MIRT2524379	hsa-miR-4728-3p	CLIP-seq
MIRT2524380	hsa-miR-4729	CLIP-seq
MIRT2524381	hsa-miR-4775	CLIP-seq
MIRT2524382	hsa-miR-4776-5p	CLIP-seq
MIRT2524383	hsa-miR-4778-5p	CLIP-seq
MIRT2524384	hsa-miR-579	CLIP-seq
MIRT2524385	hsa-miR-582-5p	CLIP-seq
MIRT2524386	hsa-miR-586	CLIP-seq
MIRT2524387	hsa-miR-590-3p	CLIP-seq
MIRT2524388	hsa-miR-642b	CLIP-seq
MIRT2524389	hsa-miR-758	CLIP-seq
MIRT2524390	hsa-miR-760	CLIP-seq
MIRT2524391	hsa-miR-921	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ERG	Repression	20860828

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	IEA
GO:0002175	Process	Protein localization to paranode region of axon	ISS
GO:0003779	Function	Actin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	21966409
GO:0005515	Function	Protein binding	IPI	12234973
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	NAS	9892180
GO:0005911	Component	Cell-cell junction	IDA	12234973
GO:0006915	Process	Apoptotic process	IEA
GO:0008150	Process	Biological_process	ND
GO:0008360	Process	Regulation of cell shape	ISS
GO:0030054	Component	Cell junction	IDA
GO:0030673	Component	Axolemma	ISS
GO:0030865	Process	Cortical cytoskeleton organization	TAS	21966409
GO:0030866	Process	Cortical actin cytoskeleton organization	IEA
GO:0030913	Process	Paranodal junction assembly	ISS
GO:0031032	Process	Actomyosin structure organization	IBA	21873635
GO:0033270	Component	Paranode region of axon	ISS
GO:0043217	Process	Myelin maintenance	ISS
GO:0044224	Component	Juxtaparanode region of axon	ISS
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0071205	Process	Protein localization to juxtaparanode region of axon	ISS
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0106006	Function	Cytoskeletal protein-membrane anchor activity	TAS	21966409

Other IDs

• MIM: 605331
• HGNC: 3380
• e!Ensembl: ENSG00000082397

Protein

• UniProt ID: Q9Y2J2
• Protein name: Band 4.1-like protein 3 (4.1B) (Differentially expressed in adenocarcinoma of the lung protein 1) (DAL-1) (Erythrocyte membrane protein band 4.1-like 3) [Cleaved into: Band 4.1-like protein 3, N-terminally processed]
• Protein function: Tumor suppressor that inhibits cell proliferation and promotes apoptosis. Modulates the activity of protein arginine N-methyltransferases, including PRMT3 and PRMT5. {ECO:0000269|PubMed:15334060, ECO:0000269|PubMed:15737618, ECO:0000269|PubMed:1
• PDB: 2HE7, 3BIN, 5RYM, 5RYN, 5RYO, 5RYP, 5RYQ, 5RYR, 5RYS, 5RYT, 5RYU, 5RYV, 5RYW, 5RYX, 5RYY, 5RYZ, 5RZ0, 5RZ1, 5RZ2, 5RZ3, 5RZ4, 5RZ5, 5RZ6, 5RZ7, 5RZ8, 5RZ9, 5RZA, 5RZB, 5RZC, 5RZD, 5RZE, 5RZF, 5RZG, 5RZH, 5RZI, 5RZJ, 5RZK, 5RZL, 5RZM, 5RZN, 5RZO, 5RZP, 5RZQ, 5RZR, 5RZS, 5RZT, 5RZU, 5RZV, 5RZW, 5RZX, 5RZY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09379	FERM_N	114 → 177	FERM N-terminal domain	Domain
  PF00373	FERM_M	192 → 301	FERM central domain	Domain
  PF09380	FERM_C	305 → 395	FERM C-terminal PH-like domain	Domain
  PF08736	FA	398 → 441	FERM adjacent (FA)	Family
  PF04382	SAB	717 → 765	SAB domain	Domain
  PF05902	4_1_CTD	973 → 1079	4.1 protein C-terminal domain (CTD)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in brain, with lower levels in kidney, intestine, and testis. Detected in lung. {ECO:0000269|PubMed:9892180}.
• Sequence:

  MTTESGSDSESKPDQEAEPQEAAGAQGRAGAPVPEPPKEEQQQALEQFAAAAAHSTPVRR
  EVTDKEQEFAARAAKQLEYQQLEDDKLSQKSSSSKLSRSPLKIVKKPKSMQCKVILLDGS
  EYTCDVEKRSRGQVLFDKVCEHLNLLEKDYFGLTYRDAENQKNWLDPAKEIKKQVRSGAW
  HFSFNVKFYPPDPAQLSEDITRYYLCLQLRDDIVSGRLPCSFVTLALLGSYTVQSELGDY
  DPDECGSDYISEFRFAPNHTKELEDKVIELHKSHRGMTPAEAEMHFLENAKKLSMYGVDL
  HHAKDSEGVEIMLGVCASGLLIYRDRLRINRFAWPKVLKISYKRNNFYIKIRPGEFEQFE
  STIGFKLPNHRAAKRLWKVCVEHHTFFRLLLPEAPPKKFLTLGSKFRYSGRTQAQTRRAS
  ALIDRPAPYFERSSSKRYTMSRSLDGEVGTGQYATTKGISQTNLITTVTPEKKAEEERDE
  EEDKRRKGEEVTPISAIRHEGKSPGLGTDSCPLSPPSTHCAPTSPTELRRRCKENDCKLP
  GYEPSRAEHLPGEPALDSDGPGRPYLGDQDVAFSYRQQTGKGTTLFSFSLQLPESFPSLL
  DDDGYLSFPNLSETNLLPQSLQHYLPIRSPSLVPCFLFIFFFLLSASFSVPYALTLSFPL
  ALCLCYLEPKAASLSASLDNDPSDSSEEETDSERTDTAADGETTATESDQEEDAELKAQE
  LEKTQDDLMKHQTNISELKRTFLETSTDTAVTNEWEKRLSTSPVRLAARQEDAPMIEPLV
  PEETKQSSGEKLMDGSEIFSLLESARKPTEFIGGVTSTSQSWVQKMETKTESSGIETEPT
  VHHLPLSTEKVVQETVLVEERRVVHASGDASYSAGDSGDAAAQPAFTGIKGKEGSALTEG
  AKEEGGEEVAKAVLEQEETAAASRERQEEQSAAIHISETLEQKPHFESSTVKTETISFGS
  VSPGGVKLEISTKEVPVVHTETKTITYESSQVDPGTDLEPGVLMSAQTITSETTSTTTTT
  HITKTVKGGISETRIEKRIVITGDADIDHDQALAQAIKEAKEQHPDMSVTKVVVHKETEI
  TPEDGED

• Sequence length: 1087

Pathways

Reactome:

Neurexins and neuroligins

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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	17260099
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	17260099
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	17260099

Unknown
Disease term	Disease name	Evidence	References	Source
Kidney Disease	Kidney Disease			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	11996670, 19846932, 39354571
Anaplasia	Associate	14601094
Anodontia	Associate	31828581
Azoospermia	Associate	37283758
Brain Neoplasms	Inhibit	15731777
Breast Neoplasms	Inhibit	11996670
Breast Neoplasms	Associate	19846932
Carcinoma Ovarian Epithelial	Inhibit	20651987
Colitis Ulcerative	Associate	36445533
Colorectal Neoplasms	Inhibit	31828581
Colorectal Neoplasms	Associate	33893082, 40001597
COVID 19	Associate	37283758
Esophageal Squamous Cell Carcinoma	Associate	25050929
Familial ependymoma	Associate	15731777
Glioma	Associate	25621889
Heart Diseases	Associate	28009100
Hereditary Breast and Ovarian Cancer Syndrome	Associate	25830725
Hypomagnesemia primary	Stimulate	24508839
Idiopathic Pulmonary Fibrosis	Stimulate	37373330
Melanoma	Inhibit	31171904
Meningioma	Inhibit	11996670
Neoplasm Metastasis	Inhibit	31171904
Neoplasms	Inhibit	11996670, 17280610, 20860828, 25621889, 25830725, 31828581, 33323539, 35619332, 39354571
Neoplasms	Associate	14601094, 24508839, 32048621, 33893082
Neoplasms	Stimulate	25050929
Oropharyngeal Neoplasms	Associate	31304592, 35619332, 38286404
Osteosarcoma	Stimulate	33323539
Ovarian Neoplasms	Associate	20651987
Prostatic Neoplasms	Inhibit	17280610
Prostatic Neoplasms	Associate	20860828
Renal cell carcinoma 1	Associate	39354571
Squamous Cell Carcinoma of Head and Neck	Associate	32048621
Stomach Diseases	Inhibit	31828581
Stomach Neoplasms	Associate	34579655, 39354571
Thyroid Cancer Papillary	Associate	30278442
Uterine Cervical Dysplasia	Stimulate	24508839
Uterine Cervical Dysplasia	Associate	31606044
Uterine Cervical Neoplasms	Associate	25830725, 28500655, 32368784, 32576279
Uterine Cervicitis	Associate	26406956