NEUROD1 (neuronal differentiation 1)

Gene

• Entrez ID: 4760
• Gene name: Neuronal differentiation 1
• Gene symbol: NEUROD1
• Synonyms (NCBI Gene): BETA2, BHF-1, MODY6, NEUROD, T2D, bHLHa3
• Disease Acronyms (UniProt): MODY6, T2D
• Chromosome: 2
• Chromosome location: 2q31.3
• Summary: This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. I

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893649	C>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs149703259	G>C,T	Pathogenic	Coding sequence variant, synonymous variant, intron variant
rs387906384	GGG>-,GGGG	Pathogenic	Intron variant, coding sequence variant, inframe deletion, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT007297	hsa-miR-30a-5p	Western blot	23338554
MIRT725343	hsa-miR-138-5p	HITS-CLIP	19536157
MIRT725342	hsa-miR-5003-3p	HITS-CLIP	19536157
MIRT725341	hsa-miR-93-3p	HITS-CLIP	19536157
MIRT725340	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT725339	hsa-miR-29b-1-5p	HITS-CLIP	19536157
MIRT725338	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT725337	hsa-miR-133a-5p	HITS-CLIP	19536157
MIRT725335	hsa-miR-6131	HITS-CLIP	19536157
MIRT725336	hsa-miR-299-5p	HITS-CLIP	19536157
MIRT725334	hsa-miR-6828-3p	HITS-CLIP	19536157
MIRT725333	hsa-miR-6071	HITS-CLIP	19536157
MIRT725332	hsa-miR-4263	HITS-CLIP	19536157
MIRT725331	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT725330	hsa-miR-544a	HITS-CLIP	19536157
MIRT725329	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT725327	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT734569	hsa-miR-30a-3p	Immunoprecipitaion (IP)	33344724
MIRT725343	hsa-miR-138-5p	HITS-CLIP	19536157
MIRT725342	hsa-miR-5003-3p	HITS-CLIP	19536157
MIRT725341	hsa-miR-93-3p	HITS-CLIP	19536157
MIRT725340	hsa-miR-3692-5p	HITS-CLIP	19536157
MIRT725339	hsa-miR-29b-1-5p	HITS-CLIP	19536157
MIRT725338	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT725337	hsa-miR-133a-5p	HITS-CLIP	19536157
MIRT725335	hsa-miR-6131	HITS-CLIP	19536157
MIRT725336	hsa-miR-299-5p	HITS-CLIP	19536157
MIRT725334	hsa-miR-6828-3p	HITS-CLIP	19536157
MIRT725333	hsa-miR-6071	HITS-CLIP	19536157
MIRT725332	hsa-miR-4263	HITS-CLIP	19536157
MIRT725331	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT725330	hsa-miR-544a	HITS-CLIP	19536157
MIRT725329	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT725327	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT756403	hsa-miR-25-3p	Luciferase reporter assay, Western blotting	35194770
MIRT1181229	hsa-miR-1208	CLIP-seq
MIRT1181230	hsa-miR-128	CLIP-seq
MIRT1181231	hsa-miR-130a	CLIP-seq
MIRT1181232	hsa-miR-130b	CLIP-seq
MIRT1181233	hsa-miR-132	CLIP-seq
MIRT1181234	hsa-miR-148a	CLIP-seq
MIRT1181235	hsa-miR-148b	CLIP-seq
MIRT1181236	hsa-miR-152	CLIP-seq
MIRT1181237	hsa-miR-153	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT1181239	hsa-miR-18a	CLIP-seq
MIRT1181240	hsa-miR-18b	CLIP-seq
MIRT1181241	hsa-miR-194	CLIP-seq
MIRT1181242	hsa-miR-19a	CLIP-seq
MIRT1181243	hsa-miR-19b	CLIP-seq
MIRT1181244	hsa-miR-212	CLIP-seq
MIRT1181245	hsa-miR-24	CLIP-seq
MIRT1181246	hsa-miR-297	CLIP-seq
MIRT1181247	hsa-miR-301a	CLIP-seq
MIRT1181248	hsa-miR-301b	CLIP-seq
MIRT1181249	hsa-miR-3149	CLIP-seq
MIRT1181250	hsa-miR-3666	CLIP-seq
MIRT1181251	hsa-miR-369-3p	CLIP-seq
MIRT1181252	hsa-miR-374c	CLIP-seq
MIRT1181253	hsa-miR-3923	CLIP-seq
MIRT1181254	hsa-miR-4295	CLIP-seq
MIRT1181255	hsa-miR-4330	CLIP-seq
MIRT1181256	hsa-miR-448	CLIP-seq
MIRT1181257	hsa-miR-454	CLIP-seq
MIRT1181258	hsa-miR-4666-5p	CLIP-seq
MIRT1181259	hsa-miR-4704-3p	CLIP-seq
MIRT1181260	hsa-miR-4735-3p	CLIP-seq
MIRT1181261	hsa-miR-548a-5p	CLIP-seq
MIRT1181262	hsa-miR-548ab	CLIP-seq
MIRT1181263	hsa-miR-548ak	CLIP-seq
MIRT1181264	hsa-miR-548b-5p	CLIP-seq
MIRT1181265	hsa-miR-548c-3p	CLIP-seq
MIRT1181266	hsa-miR-548c-5p	CLIP-seq
MIRT1181267	hsa-miR-548d-5p	CLIP-seq
MIRT1181268	hsa-miR-548h	CLIP-seq
MIRT1181269	hsa-miR-548i	CLIP-seq
MIRT1181270	hsa-miR-548j	CLIP-seq
MIRT1181271	hsa-miR-548n	CLIP-seq
MIRT1181272	hsa-miR-548w	CLIP-seq
MIRT1181273	hsa-miR-548y	CLIP-seq
MIRT1181274	hsa-miR-556-3p	CLIP-seq
MIRT1181275	hsa-miR-559	CLIP-seq
MIRT1181276	hsa-miR-567	CLIP-seq
MIRT1181277	hsa-miR-655	CLIP-seq
MIRT1181278	hsa-miR-802	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT2052492	hsa-miR-3714	CLIP-seq
MIRT2052493	hsa-miR-4635	CLIP-seq
MIRT1181238	hsa-miR-185	CLIP-seq
MIRT1181242	hsa-miR-19a	CLIP-seq
MIRT1181243	hsa-miR-19b	CLIP-seq
MIRT1181242	hsa-miR-19a	CLIP-seq
MIRT1181243	hsa-miR-19b	CLIP-seq
MIRT2579931	hsa-miR-134	CLIP-seq
MIRT2579932	hsa-miR-2113	CLIP-seq
MIRT2579933	hsa-miR-3118	CLIP-seq
MIRT2579934	hsa-miR-3163	CLIP-seq
MIRT2579935	hsa-miR-3164	CLIP-seq
MIRT2579936	hsa-miR-3924	CLIP-seq
MIRT2579937	hsa-miR-4668-3p	CLIP-seq
MIRT2579938	hsa-miR-568	CLIP-seq
MIRT2579939	hsa-miR-758	CLIP-seq
MIRT1181242	hsa-miR-19a	CLIP-seq
MIRT1181243	hsa-miR-19b	CLIP-seq
MIRT2686211	hsa-miR-300	CLIP-seq
MIRT2686212	hsa-miR-381	CLIP-seq
MIRT2579936	hsa-miR-3924	CLIP-seq
MIRT2686213	hsa-miR-4517	CLIP-seq
MIRT2686214	hsa-miR-4666-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NEUROG3	Unknown	16855267

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	19619559
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001102	Function	RNA polymerase II activating transcription factor binding	IPI	19619559
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	14752053
GO:0003326	Process	Pancreatic A cell fate commitment	IEA
GO:0003329	Process	Pancreatic PP cell fate commitment	IEA
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	10545951
GO:0005515	Function	Protein binding	IPI	14752053, 28514442, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IC	10545951
GO:0005634	Component	Nucleus	IDA	14752053
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006913	Process	Nucleocytoplasmic transport	IEA
GO:0007263	Process	Nitric oxide mediated signal transduction	IDA	17941991
GO:0008134	Function	Transcription factor binding	IPI	10545951, 16321656
GO:0009749	Process	Response to glucose	IMP	10545951
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0021542	Process	Dentate gyrus development	ISS
GO:0021549	Process	Cerebellum development	ISS
GO:0022008	Process	Neurogenesis	TAS	8786144
GO:0023019	Process	Signal transduction involved in regulation of gene expression	IEA
GO:0030073	Process	Insulin secretion	IDA	17941991
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0031018	Process	Endocrine pancreas development	ISS	9308961
GO:0031018	Process	Endocrine pancreas development	TAS
GO:0035881	Process	Amacrine cell differentiation	ISS
GO:0035883	Process	Enteroendocrine cell differentiation	ISS
GO:0042493	Process	Response to drug	IEA
GO:0042593	Process	Glucose homeostasis	ISS	9308961
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0043565	Function	Sequence-specific DNA binding	IDA	10545951
GO:0045597	Process	Positive regulation of cell differentiation	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10545951
GO:0046426	Process	Negative regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	14752053
GO:0046982	Function	Protein heterodimerization activity	IPI	10545951
GO:0048562	Process	Embryonic organ morphogenesis	ISS	9308961
GO:0048666	Process	Neuron development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0050796	Process	Regulation of insulin secretion	IC	10545951
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IDA	14752053
GO:0060730	Process	Regulation of intestinal epithelial structure maintenance	ISS
GO:0070888	Function	E-box binding	IDA	14752053
GO:0071156	Process	Regulation of cell cycle arrest	ISS
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	10545951
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000675	Process	Negative regulation of type B pancreatic cell apoptotic process	ISS	9308961
GO:2000679	Process	Positive regulation of transcription regulatory region DNA binding	IDA	19619559

Other IDs

• MIM: 601724
• HGNC: 7762
• e!Ensembl: ENSG00000162992

Protein

• UniProt ID: Q13562
• Protein name: Neurogenic differentiation factor 1 (NeuroD) (NeuroD1) (Class A basic helix-loop-helix protein 3) (bHLHa3)
• Protein function: Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	102 → 154	Helix-loop-helix DNA-binding domain	Domain
  PF12533	Neuro_bHLH	160 → 284	Neuronal helix-loop-helix transcription factor	Family

• Sequence:

  MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLETMNAEEDSLRNGGEEE
  DEDEDLEEEEEEEEEDDDQKPKRRGPKKKKMTKARLERFKLRRMKANARERNRMHGLNAA
  LDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSGKSPDLVSFVQTLCKGLSQPT
  TNLVAGCLQLNPRTFLPEQNQDMPPHLPTASASFPVHPYSYQSPGLPSPPYGTMDSSHVF
  HVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPPLSINGNFSFKHEPSAEFEKNYAFT
  MHYPAATLAGAQSHGSIFSGTAAPRCEIPIDNIMSFDSHSHHERVMSAQLNAIFHD

• Sequence length: 356

Pathways

KEGG:

Maturity onset diabetes of the young

Reactome:

Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hyperinsulinemic hypoglycemia	Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia	rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent, Neonatal diabetes mellitus, Transient neonatal diabetes mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	16123366, 10545951, 20573748, 26669242
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Mason type diabetes	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder), Maturity onset diabetes mellitus in young, MODY	rs80356625, rs104894237, rs587776825, rs137853236, rs137853237, rs137853238, rs1566092470, rs1463923467, rs137853243, rs137853244, rs104894006, rs80356655, rs104894008, rs193922254, rs193922259, rs193922263, rs193922264, rs193922265, rs193922268, rs193922269, rs193922272, rs193922275, rs193922280, rs193922281, rs193922284, rs193922289, rs193922291, rs193922295, rs193922300, rs193922302, rs193922313, rs193922314, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922329, rs193922330, rs193922331, rs193922336, rs193922340, rs193922475, rs193922476, rs193922479, rs193922480, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs587780344, rs587780346, rs587780357, rs587783672, rs786204676, rs151344624, rs794727775, rs794727839, rs759072800, rs797045595, rs863225280, rs864321656, rs878853246, rs886039544, rs886039386, rs886042015, rs886041690, rs886041391, rs886041820, rs886042610, rs754728827, rs1057517745, rs1057521094, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524898, rs1057524904, rs1057524905, rs764232985, rs1057524908, rs1064793134, rs1064796410, rs1057520109, rs769086289, rs1085307455, rs1085307913, rs1131691483, rs765432081, rs1131692182, rs1554335441, rs762263694, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555833071, rs1554334539, rs1554334610, rs1554334613, rs193922258, rs1554334894, rs1554334905, rs1554335111, rs1554335132, rs1554335135, rs1332966015, rs746913146, rs1246464603, rs1554335573, rs1554335585, rs1554335966, rs1260178539, rs1555260207, rs1555210478, rs1555211426, rs1555211436, rs1555211922, rs1555211999, rs1555212014, rs1555816615, rs1555816642, rs1555817851, rs144723656, rs1555211904, rs1555211975, rs779184183, rs1555815158, rs1554335564, rs1555212396, rs1555815396, rs1400535021, rs1555813342, rs1555815393, rs1554334872, rs1555212749, rs1555833144, rs1555212363, rs1555813267, rs1236613475, rs1554924035, rs1554913069, rs1554933565, rs766431403, rs758844607, rs771108132, rs1566092307, rs753998395, rs1565885935, rs1562711915, rs1562713041, rs1562715296, rs1562715657, rs1562717053, rs1562718043, rs1564869850, rs193922401, rs755259997, rs1565883507, rs1172328722, rs1286294151, rs1565886545, rs1565887211, rs1375557127, rs1568731279, rs1562719029, rs1562715426, rs1568724014, rs1392795567, rs1562719705, rs1564977373, rs1598806177, rs1598809747, rs1598840773, rs1598840795, rs1598841082, rs1598842886, rs1598848672, rs1598854261, rs1598854747, rs1229650809, rs1598840996, rs1583592247, rs780612692, rs1593060859, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs751279776, rs1583601365, rs1281712444, rs1593060890, rs1593060912, rs1592898255, rs1290868034, rs1191912908, rs1583601110, rs1593054210, rs1592897526, rs1600707958, rs1600710669, rs1598809697, rs1593058932, rs1593060966, rs2096270755, rs1364708195, rs1877324101	26669242, 10545951, 11719843, 20573748, 26773576, 22498247, 21844708
Monogenic diabetes	Monogenic diabetes	rs137852673, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs587776825, rs137853236, rs137853237, rs137853238, rs2135818776, rs1566092470, rs137853243, rs137853244, rs137853245, rs80356655, rs104894008, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs193922254, rs193922257, rs193922258, rs193922260, rs193922262, rs193922263, rs193922264, rs193922265, rs193922266, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922280, rs193922282, rs193922283, rs193922284, rs193922286, rs193922289, rs193922291, rs193922297, rs193922300, rs193922302, rs193922311, rs193922313, rs193922315, rs193922317, rs193922319, rs193922335, rs193922471, rs193922475, rs193922476, rs193922479, rs193922480, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs267607555, rs587780343, rs587780344, rs587780346, rs587780357, rs794727236, rs794727775, rs794727839, rs759072800, rs797045595, rs864321656, rs777870079, rs769268803, rs886039544, rs886039386, rs886042610, rs754728827, rs1057517745, rs1057520109, rs1057521092, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524896, rs1057524898, rs1057524900, rs1057524901, rs1057524902, rs1057524903, rs1057524904, rs1057524905, rs764232985, rs1057524908, rs1064795242, rs1064793134, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307455, rs1085307913, rs765432081, rs1131692182, rs1554335441, rs762263694, rs767565869, rs1375656631, rs370375148, rs1554335616, rs769518471, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs776489992, rs1554334539, rs1554334546, rs1400535021, rs1554334610, rs1554334613, rs1415041911, rs556581174, rs1554334894, rs1554334905, rs1554335111, rs104894011, rs1554335132, rs1332966015, rs746913146, rs1554335573, rs1554335966, rs1555260207, rs1555210478, rs753998395, rs1555211426, rs1555211436, rs1555211922, rs1555211999, rs1555212014, rs1555816615, rs1555816642, rs781364316, rs1555817727, rs1555817851, rs1555211904, rs1555211975, rs779184183, rs1555815158, rs1555212396, rs1555815396, rs1555813342, rs1555815393, rs1555813267, rs1236613475, rs954727530, rs369841551, rs771108132, rs1566092307, rs1562711915, rs1185622190, rs1167124132, rs1471992838, rs1562713041, rs193922340, rs556436603, rs1562715657, rs1562717053, rs1562718043, rs193922292, rs1444739794, rs1486280029, rs193922401, rs1565883507, rs1172328722, rs1286294151, rs1565886545, rs1375557127, rs1568731279, rs1392795567, rs1229650809, rs1476637197, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs766956862, rs1290868034, rs1191912908, rs1593058932, rs2096270755, rs1364708195, rs1877324101	20573748, 26669242
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573

Unknown
Disease term	Disease name	Evidence	References	Source
Pancreatic hypoplasia	Congenital hypoplasia of pancreas			ClinVar
Diabetes	maturity-onset diabetes of the young type 6, maturity-onset diabetes of the young			GenCC
Monogenic Diabetes	monogenic diabetes			GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acrocephalosyndactylia	Associate	9792856
Adenocarcinoma	Associate	39283755
Adenocarcinoma in Situ	Associate	21731750
Adenoma	Associate	18079591
Ataxia	Associate	25684977
Autoimmune Diseases	Associate	40474235
Axenfeld Rieger syndrome	Associate	17653043
Brain Injuries Traumatic	Associate	21275797
Breast Neoplasms	Associate	18519782
Carcinogenesis	Associate	31715070, 34937609, 37987107
Carcinoid Tumor	Associate	18587321
Carcinoma	Associate	24719457
Carcinoma Large Cell	Associate	16862075
Carcinoma Merkel Cell	Associate	30414538
Carcinoma Neuroendocrine	Inhibit	18587321
Carcinoma Neuroendocrine	Associate	24719457, 33514539, 35608806
Carcinoma Renal Cell	Associate	34654408
Carcinoma Small Cell	Associate	16862075, 32721553, 33248321, 34145257, 34534680, 37931445, 40275187
Cardiomyopathies	Associate	33484326
Cardiomyopathy Dilated	Associate	34654408
Cerebellar Hypoplasia	Associate	20573748, 25684977
Charcot Marie Tooth Disease	Associate	40026692
Colorectal Neoplasms	Associate	25371200, 31715070, 35587572
Congenital Hyperinsulinism	Associate	34497584
COVID 19	Associate	40474235
Death	Associate	18519782
Diabetes Mellitus	Associate	20573748, 33484326, 34654408, 35769090, 36208030, 40474235
Diabetes Mellitus	Stimulate	31578821
Diabetes Mellitus Permanent Neonatal	Associate	20573748
Diabetes Mellitus Transient Neonatal 1	Associate	25477324, 25684977
Diabetes Mellitus Type 1	Associate	32882526
Diabetes Mellitus Type 2	Associate	16936201, 20573748, 22296034, 25684977, 26287533, 28095440, 30259503, 31578821, 31595705, 32882526, 35592779, 36208030, 37234924, 40026692, 40474235
Diabetic Neuropathies	Associate	25684977
Diffuse Intrinsic Pontine Glioma	Associate	35590427
Disease	Associate	25477324
Epilepsy	Associate	33484326
Esophageal Neoplasms	Associate	25876658
Eye Diseases	Associate	35139773
Gastro enteropancreatic neuroendocrine tumor	Associate	18587321
Glioblastoma	Associate	28418837
Hearing Loss Sensorineural	Associate	20573748, 25684977, 33484326
Hereditary Angioedema Type III	Associate	18519782
Huntington Disease	Inhibit	33065279
Hypoxia Brain	Associate	37798384
Inflammatory Bowel Diseases	Associate	32531444
Learning Disabilities	Associate	20573748
Lung Neoplasms	Associate	17549667, 24719457
Lymphatic Metastasis	Associate	40107154
Lymphoma Large B Cell Diffuse	Associate	18288132
Macular dystrophy retinal 1 North Carolina type	Associate	35139773
Mason Type Diabetes	Associate	25684977, 34654408
Maturity Onset Diabetes of the Young Type 1	Associate	40474235
Medulloblastoma	Associate	28213356, 31715070
Mitochondrial Diseases	Associate	33484326
Mitochondrial encephalopathy	Associate	33484326
MODY Type 6	Associate	34654408, 39264012, 40026692
Neoplasms	Stimulate	17549667
Neoplasms	Associate	18288132, 18519782, 22907430, 24621010, 24719457, 28865461, 31715070, 34534680, 37253435, 37798384
Neoplasms	Inhibit	40107154
Nerve Degeneration	Associate	21374761
Nervous System Diseases	Associate	35269707
Nervous System Malformations	Associate	25684977
Neuroblastoma	Associate	31715070, 32641824, 34937609, 36121500
Neuroendocrine Tumors	Associate	17549667, 18587321, 33011388, 35688945, 36044718, 36121500
Neurologic Manifestations	Associate	20573748, 25477324
Night Blindness	Associate	25684977
Pituitary ACTH Hypersecretion	Inhibit	28865461
Precancerous Conditions	Associate	32531444
Prostatic Neoplasms	Associate	21385481, 27840924, 34599169
Retinal Dystrophies	Associate	20573748, 25477324, 25684977
Retinitis Pigmentosa	Associate	25477324, 30359287
Seizures	Associate	33484326
Sleep Deprivation	Associate	34654408
Small Cell Lung Carcinoma	Associate	19679880, 24719457, 28212573, 33011388, 33086069, 33514539, 34653364, 35220975, 35263037, 35440124, 35489038, 35612556, 35789143, 36149789, 36378541, 36399951, 36517551, 36935366, 37253435, 37752152, 37987107, 39201435, 39210380, 39283755, 39413714, 40107154, 40649874
Urethral Neoplasms	Associate	40275187
Urinary Bladder Neoplasms	Associate	40275187
Vision Disorders	Associate	20573748, 25684977