ABCC8 (ATP binding cassette subfamily C member 8)

Gene

• Entrez ID: 6833
• Gene name: ATP binding cassette subfamily C member 8
• Gene symbol: ABCC8
• Synonyms (NCBI Gene): ABC36, HHF1, HI, HRINS, MODY12, MRP8, PHHI, PNDM3, SUR, SUR1, SUR1delta2, TNDM2
• Chromosome: 11
• Chromosome location: 11p15.1
• Summary: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1048095	A>G	Pathogenic	Genic upstream transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs28936370	C>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28936371	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28938469	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72559713	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs72559715	C>T	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72559716	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs72559718	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs72559722	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs72559723	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant, non coding transcript variant
rs72559730	G>A,T	Pathogenic	Genic upstream transcript variant, stop gained, 5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs72559734	C>A,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs80356634	T>C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80356637	A>C,G	Pathogenic, not-provided	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80356640	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, synonymous variant
rs80356642	A>C	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs80356651	C>T	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs80356653	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs111967655	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs137852671	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137852672	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs137852673	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137852674	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs137852676	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs139328569	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, 5 prime UTR variant
rs139524121	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs139964066	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs141322087	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs142272833	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs148709148	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs149331388	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs151344623	C>G,T	Pathogenic	Non coding transcript variant, intron variant
rs151344624	AAG>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs185040406	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs193922396	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs193922397	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs193922399	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193922400	C>A,T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193922401	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs193922402	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs193922403	G>A,C	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, synonymous variant
rs193922405	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, synonymous variant
rs193922406	A>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs193922407	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs193922408	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs193929360	A>C,G	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs193929364	A>G	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs193929366	G>T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs193929369	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs200091822	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant
rs200670692	A>T	Pathogenic, likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs201682634	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs267606623	G>A	Pathogenic	Upstream transcript variant, 5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs367850779	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs368114790	C>T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, missense variant
rs372307320	C>T	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs373737642	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant
rs387906407	C>G,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs387906408	GGA>-	Pathogenic	Inframe deletion, coding sequence variant, non coding transcript variant
rs541269678	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs547150342	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs550990673	G>A,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs570388861	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs576684889	C>T	Likely-pathogenic	Splice acceptor variant
rs587783169	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs587783171	A>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs746480424	C>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant, non coding transcript variant
rs746714109	C>T	Likely-pathogenic	Intron variant
rs749271190	C>A,T	Likely-pathogenic	Splice donor variant
rs750586210	A>G	Pathogenic	Splice donor variant
rs751279984	G>A	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs755259997	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs757171524	C>T	Likely-pathogenic	Intron variant, non coding transcript variant
rs757650373	->GAGGGAGAGGGAGGC	Pathogenic	Inframe insertion, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs758844607	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs760196276	G>A	Likely-pathogenic	Splice donor variant
rs761749884	C>T	Pathogenic-likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs763028380	C>A,G,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant
rs764613146	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs765090096	G>A,C,T	Likely-pathogenic, likely-benign	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs766431403	C>T	Pathogenic	Non coding transcript variant, splice acceptor variant
rs768951263	->GAGCTGATTGGTGTCGATGGCAACCAGATTA	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs769279368	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs769518471	G>A	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs769569410	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs770664202	CCAT>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs771075821	G>A,T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, missense variant, coding sequence variant, 5 prime UTR variant
rs772682942	C>T	Likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs773306994	C>A,T	Pathogenic	Splice donor variant
rs774574576	C>G,T	Likely-pathogenic	Splice donor variant
rs786204542	GGT>CAGTTCCTGGCTG	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786204676	A>G	Likely-pathogenic	Splice donor variant
rs786204695	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs786204717	TCAG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs796891223	T>G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs797045206	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs797045207	C>T	Pathogenic	Splice acceptor variant
rs797045208	A>C	Likely-pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs797045209	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045211	C>T	Pathogenic	Splice donor variant, non coding transcript variant
rs797045212	->AATGGAAGCCGTGGCCTCGTC	Likely-pathogenic	Terminator codon variant, inframe insertion, coding sequence variant, non coding transcript variant, 3 prime UTR variant
rs797045213	T>C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863225278	T>A	Pathogenic	Splice acceptor variant
rs863225279	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225280	C>T	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs886039877	A>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886041391	T>C	Pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs886041392	TTCCTGGCTGCAGGGGTCAG>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs925231098	C>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs971604271	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, intron variant
rs1008906426	C>G,T	Likely-pathogenic	Intron variant
rs1057516281	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057516317	C>-	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516404	C>T	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs1057516439	G>C	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057516509	C>G	Likely-pathogenic	Splice donor variant
rs1057516542	TG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516585	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057516589	A>G	Likely-pathogenic	Splice donor variant
rs1057516591	G>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516654	->C	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516655	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516665	->T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516718	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057516890	TT>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057516946	T>A,G	Likely-pathogenic	Splice acceptor variant
rs1057517015	T>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057517019	->G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517050	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs1057517128	A>G	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1057517139	C>G,T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1057517199	->T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1057517274	A>T	Likely-pathogenic	Splice donor variant
rs1057517406	C>A	Likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs1057517420	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1167993548	C>T	Likely-pathogenic	Splice acceptor variant
rs1247430874	C>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, 5 prime UTR variant
rs1260178539	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs1263082097	CA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1344172059	C>T	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1382448285	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1395224084	G>A,C,T	Pathogenic	Upstream transcript variant
rs1411638309	G>A,C	Likely-pathogenic	Genic downstream transcript variant, stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1446306735	C>A,T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs1449198328	A>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554903370	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1554904006	A>C	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs1554904102	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554904136	T>C	Likely-pathogenic	Splice acceptor variant
rs1554904554	AGGGCCTCCCACAGTGTGCTATC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs1554904904	AGGACGGGGTCCTGCAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554904936	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554905145	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554905662	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554905787	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554906449	C>T	Likely-pathogenic	Splice acceptor variant
rs1554906450	T>C	Likely-pathogenic	Splice acceptor variant
rs1554906786	C>T	Likely-pathogenic	Splice donor variant
rs1554909277	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554910610	C>A,T	Likely-pathogenic	Splice donor variant
rs1554910616	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant
rs1554910621	->TGGAC	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554911369	C>T	Likely-pathogenic	Splice donor variant
rs1554912381	GCCGCCAGTCACACCTGGCTGAGGGAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, intron variant
rs1554913069	CTCT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554917411	CACGGGGCCTCTC>TT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554923999	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1554924035	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554924142	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554924540	C>A,T	Likely-pathogenic	Splice donor variant
rs1554924630	C>T	Likely-pathogenic	Splice acceptor variant
rs1554926465	CTCAC>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant, splice donor variant
rs1554926476	C>A	Likely-pathogenic	Splice donor variant
rs1554926539	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554933168	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1554933415	C>A	Likely-pathogenic	Splice donor variant, 5 prime UTR variant
rs1554933565	TC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554938866	T>C	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1554946437	->AG	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1554948310	A>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1554948445	C>T	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1554949176	A>C	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1564869850	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs1564890766	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1564905676	C>T	Pathogenic	Splice acceptor variant
rs1564955779	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs1564977373	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1564980510	->A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1591705863	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1591794677	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1591834223	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1591890137	T>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1591896370	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1591928988	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018447	hsa-miR-335-5p	Microarray	18185580
MIRT441310	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT441310	hsa-miR-136-5p	HITS-CLIP	24374217

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001508	Process	Action potential	IEA
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0005267	Function	Potassium channel activity	IMP	24814349, 25720052, 26181369
GO:0005515	Function	Protein binding	IPI	19805355
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	7502040
GO:0007565	Process	Female pregnancy	IEA
GO:0007613	Process	Memory	IEA
GO:0008281	Function	Sulfonylurea receptor activity	IEA
GO:0008282	Component	Inward rectifying potassium channel	IDA	20610380
GO:0008282	Component	Inward rectifying potassium channel	IEA
GO:0008282	Component	Inward rectifying potassium channel	IPI	29286281
GO:0008542	Process	Visual learning	IEA
GO:0009268	Process	Response to pH	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0010989	Process	Negative regulation of low-density lipoprotein particle clearance	IEA
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	NAS	28842488
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IDA	26181369
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031004	Component	Potassium ion-transporting ATPase complex	ISS
GO:0031669	Process	Cellular response to nutrient levels	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0043268	Process	Positive regulation of potassium ion transport	IEA
GO:0043531	Function	ADP binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	20610380
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060253	Process	Negative regulation of glial cell proliferation	IEA
GO:0061535	Process	Glutamate secretion, neurotransmission	IEA
GO:0061855	Process	Negative regulation of neuroblast migration	IEA
GO:0071805	Process	Potassium ion transmembrane transport	NAS	28842488
GO:0098662	Process	Inorganic cation transmembrane transport	ISS
GO:0140359	Function	ABC-type transporter activity	IBA
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1900721	Process	Positive regulation of uterine smooth muscle relaxation	IEA
GO:1905075	Process	Positive regulation of tight junction disassembly	IEA
GO:1905604	Process	Negative regulation of blood-brain barrier permeability	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	ISS

Other IDs

• MIM: 600509
• HGNC: 59
• e!Ensembl: ENSG00000006071

Protein

• UniProt ID: Q09428
• Protein name: ATP-binding cassette sub-family C member 8 (Sulfonylurea receptor 1)
• Protein function: Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms the channel pore while ABCC8 is required for
• PDB: 6C3O, 6C3P, 7S5V, 7S5X, 7S5Y, 7S5Z, 7S60, 7S61
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00664	ABC_membrane	299 → 590	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	696 → 857	ABC transporter	Domain
  PF00664	ABC_membrane	1012 → 1294	ABC transporter transmembrane region	Family
  PF00005	ABC_tran	1361 → 1509	ABC transporter	Domain

• Sequence:

  MPLAFCGSENHSAAYRVDQGVLNNGCFVDALNVVPHVFLLFITFPILFIGWGSQSSKVHI
  HHSTWLHFPGHNLRWILTFMLLFVLVCEIAEGILSDGVTESHHLHLYMPAGMAFMAAVTS
  VVYYHNIETSNFPKLLIALLVYWTLAFITKTIKFVKFLDHAIGFSQLRFCLTGLLVILYG
  MLLLVEVNVIRVRRYIFFKTPREVKPPEDLQDLGVRFLQPFVNLLSKGTYWWMNAFIKTA
  HKKPIDLRAIGKLPIAMRALTNYQRLCEAFDAQVRKDIQGTQGARAIWQALSHAFGRRLV
  LSSTFRILADLLGFAGPLCIFGIVDHLGKENDVFQPKTQFLGVYFVSSQEFLANAYVLAV
  LLFLALLLQRTFLQASYYVAIETGINLRGAIQTKIYNKIMHLSTSNLSMGEMTAGQICNL
  VAIDTNQLMWFFFLCPNLWAMPVQIIVGVILLYYILGVSALIGAAVIILLAPVQYFVATK
  LSQAQRSTLEYSNERLKQTNEMLRGIKLLKLYAWENIFRTRVETTRRKEMTSLRAFAIYT
  SISIFMNTAIPIAAVLITFVGHVSFFKEADFSPSVAFASLSLFHILVTPLFLLSSVVRST
  VKALVSVQKLSEFLSSAEIREEQCAPHEPTPQGPASKYQAVPLRVVNRKRPAREDCRGLT
  GPLQSLVPSADGDADNCCVQIMGGYFTWTPDGIPTLSNITIRIPRGQLTMIVGQVGCGKS
  SLLLAALGEMQKVSGAVFWSSLPDSEIGEDPSPERETATDLDIRKRGPVAYASQKPWLLN
  ATVEENIIFESPFNKQRYKMVIEACSLQPDIDILPHGDQTQIGERGINLSGGQRQRISVA
  RALYQHANVVFLDDPFSALDIHLSDHLMQAGILELLRDDKRTVVLVTHKLQYLPHADWII
  AMKDGTIQREGTLKDFQRSECQLFEHWKTLMNRQDQELEKETVTERKATEPPQGLSRAMS
  SRDGLLQDEEEEEEEAAESEEDDNLSSMLHQRAEIPWRACAKYLSSAGILLLSLLVFSQL
  LKHMVLVAIDYWLAKWTDSALTLTPAARNCSLSQECTLDQTVYAMVFTVLCSLGIVLCLV
  TSVTVEWTGLKVAKRLHRSLLNRIILAPMRFFETTPLGSILNRFSSDCNTIDQHIPSTLE
  CLSRSTLLCVSALAVISYVTPVFLVALLPLAIVCYFIQKYFRVASRDLQQLDDTTQLPLL
  SHFAETVEGLTTIRAFRYEARFQQKLLEYTDSNNIASLFLTAANRWLEVRMEYIGACVVL
  IAAVTSISNSLHRELSAGLVGLGLTYALMVSNYLNWMVRNLADMELQLGAVKRIHGLLKT
  EAESYEGLLAPSLIPKNWPDQGKIQIQNLSVRYDSSLKPVLKHVNALIAPGQKIGICGRT
  GSGKSSFSLAFFRMVDTFEGHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLD
  PERKCSDSTLWEALEIAQLKLVVKALPGGLDAIITEGGENFSQGQRQLFCLARAFVRKTS
  IFIMDEATASIDMATENILQKVVMTAFADRTVVTIAHRVHTILSADLVIVLKRGAILEFD
  KPEKLLSRKDSVFASFVRADK

• Sequence length: 1581

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ABCC8-related disorder	Likely pathogenic; Pathogenic	rs758231286, rs72559713, rs72559716, rs781059815, rs151344624, rs797045209, rs151344623, rs137852673, rs2496438882, rs1476853180, rs201682634, rs139328569, rs200670692, rs1564869850, rs193922401, rs769569410, rs1382448285	RCV004538586 RCV004535147 RCV004545752 RCV004529198 RCV004537448 RCV005230050 RCV004532316 RCV004734508 RCV004534276 RCV004528542 RCV005250049 RCV004535574 RCV004545790 RCV004527754 RCV004535759 RCV004735763 RCV004545800 RCV004528430
Autosomal dominant hyperinsulinism due to SUR1 deficiency	Likely pathogenic; Pathogenic	rs72559715	RCV001848864
Diabetes mellitus, permanent neonatal 3	Likely pathogenic; Pathogenic	rs2133554613, rs760062120, rs2133539303, rs779736828, rs1462559571, rs1564976749, rs769989185, rs745349258, rs758231286, rs1160946320, rs756823374, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs774574576, rs2496931481, rs151344624, rs776610373, rs797045209, rs797045213, rs761749884, rs863225280, rs151344623, rs28936370, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs80356651, rs193929360, rs377405677, rs766312766, rs1953845407, rs1436692401, rs2496667722, rs760494159, rs2496469312, rs2496663221, rs2496577975, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs201682634, rs757171524, rs139328569, rs768951263, rs137852676, rs193922402, rs193922407, rs980458021, rs200670692, rs72559734, rs372307320, rs1446306735, rs766431403, rs746714109, rs751279984, rs770664202, rs1411638309, rs769569410, rs72559730, rs367850779, rs1382448285, rs750586210, rs1591896370, rs753296261, rs781617345	RCV002493934 RCV002499797 RCV001536020 RCV005040402 RCV005040403 RCV005040405 RCV005042680 RCV005042602 RCV002490136 RCV005050494 RCV005042606 RCV005049430 RCV002492687 RCV005042353 RCV005049450 RCV002505223 RCV002492688 RCV005042352 RCV005045196 RCV005045198 RCV005042381 RCV005047417 RCV002500586 RCV003227708 RCV005042410 RCV005042434 RCV002467491 RCV002504772 RCV005042018 RCV005042019 RCV005042021 RCV000009670 RCV001089457 RCV001089458 RCV001089460 RCV001089462 RCV005047440 RCV005047527 RCV003405215 RCV005047597 RCV005047770 RCV005047758 RCV005047774 RCV004555728 RCV005040700 RCV005049532 RCV002504200 RCV005044612 RCV002502425 RCV002502422 RCV002502430 RCV005044751 RCV002496936 RCV002490827 RCV000009657 RCV002477010 RCV005888692 RCV005042102 RCV002491164 RCV005044870 RCV005046912 RCV002485539 RCV005049641 RCV005046882 RCV002477497 RCV005046855 RCV005046897 RCV002499280 RCV002493256 RCV002501017 RCV005047042 RCV005047041 RCV005049702 RCV005049747 RCV002497433
Diabetes mellitus, transient neonatal, 2	Likely pathogenic; Pathogenic	rs2133554613, rs760062120, rs2133539303, rs779736828, rs1462559571, rs1564976749, rs769989185, rs745349258, rs758231286, rs1160946320, rs756823374, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs774574576, rs2496931481, rs151344624, rs776610373, rs797045209, rs797045213, rs761749884, rs863225280, rs151344623, rs28936370, rs28938469, rs28936371, rs137852672, rs137852673, rs137852674, rs377405677, rs766312766, rs1436692401, rs2496667722, rs760494159, rs2496469312, rs2496577975, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs201682634, rs72559715, rs757171524, rs139328569, rs768951263, rs193922400, rs137852676, rs193922402, rs980458021, rs200670692, rs72559734, rs372307320, rs1446306735, rs766431403, rs746714109, rs751279984, rs770664202, rs1411638309, rs769569410, rs72559730, rs367850779, rs1382448285, rs750586210, rs1591896370, rs753296261, rs781617345	RCV002493934 RCV002499797 RCV001536020 RCV005040402 RCV005040403 RCV005040405 RCV005042680 RCV005042602 RCV002490136 RCV005050494 RCV005042606 RCV005049430 RCV002492687 RCV005042353 RCV005049450 RCV002505223 RCV002492688 RCV000763234 RCV005045196 RCV005045198 RCV005042381 RCV005047417 RCV000192916 RCV005049469 RCV005042410 RCV005042434 RCV005049326 RCV002504772 RCV005042018 RCV004549354 RCV005042021 RCV000009673 RCV000009675 RCV005047440 RCV005047527 RCV005047597 RCV005047770 RCV005047758 RCV005047774 RCV005040700 RCV005049532 RCV002504200 RCV005044612 RCV002502425 RCV002502422 RCV002502430 RCV000763232 RCV005044751 RCV002496936 RCV002490827 RCV000193953 RCV005042088 RCV002477010 RCV005042102 RCV002491164 RCV000763236 RCV005046912 RCV002485539 RCV005049641 RCV005046882 RCV002477497 RCV005046855 RCV005046897 RCV002499280 RCV002493256 RCV002501017 RCV005047042 RCV005047041 RCV005049702 RCV005049747 RCV002497433
Familial hyperinsulinism	Likely pathogenic; Pathogenic	rs192863214, rs1591832463, rs2133400786, rs1468762603, rs1462559571, rs2133393241, rs1564976749, rs756823374, rs2133616750, rs587783169, rs72559716, rs541269678, rs2133394768, rs781059815, rs773306994, rs151344624, rs2496851854, rs797045209, rs761749884, rs863225280, rs139964066, rs387906407, rs151344623, rs2496854928, rs2496930134, rs72559715, rs1057516281, rs1057516317, rs576684889, rs201682634, rs757171524, rs139328569, rs768951263, rs1260178539, rs137852676, rs200670692, rs72559734, rs372307320, rs1554923999, rs766431403, rs751279984, rs919281813, rs1008906426, rs1564869850, rs769569410, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1283621955, rs1476853180, rs1484689392	RCV004801004 RCV001824961 RCV001420806 RCV005432802 RCV001844417 RCV005922715 RCV002282580 RCV003479377 RCV003388087 RCV001251322 RCV000586940 RCV000780808 RCV005930317 RCV003317639 RCV002510390 RCV000587070 RCV004700804 RCV003987437 RCV001804929 RCV000590369 RCV000588494 RCV001260357 RCV000590487 RCV003226666 RCV005240778 RCV004526403 RCV000779675 RCV000589995 RCV001797710 RCV002230219 RCV005431711 RCV001797741 RCV002307525 RCV001532973 RCV000029263 RCV000588969 RCV000586584 RCV002509505 RCV000780810 RCV005418286 RCV003230568 RCV005901455 RCV002233099 RCV005418319 RCV004782524 RCV000779674 RCV000780809 RCV000780807 RCV000780806 RCV001779134 RCV001290585 RCV001290673
Hereditary hyperinsulinism	Likely pathogenic; Pathogenic	rs1953843456, rs760062120, rs2133737748, rs587783169, rs72559713, rs72559716, rs72559722, rs769279368, rs151344624, rs745835224, rs797045213, rs139964066, rs387906407, rs151344623, rs28938469, rs28936371, rs1057516281, rs576684889, rs764613146, rs773306994, rs201682634, rs769518471, rs757171524, rs139328569, rs768951263, rs1260178539, rs137852676, rs193922402, rs200670692, rs1185034563, rs1008906426, rs769569410, rs72559730, rs367850779, rs1382448285, rs750586210, rs781617345	RCV001826122 RCV001826165 RCV005607048 RCV001277189 RCV001826866 RCV001277177 RCV001277195 RCV005608854 RCV001277181 RCV005608735 RCV001833135 RCV001828097 RCV001826455 RCV001277185 RCV001831557 RCV001831558 RCV001828371 RCV001277191 RCV001828374 RCV001272240 RCV001828376 RCV001277193 RCV001834612 RCV001829422 RCV001829421 RCV001834654 RCV001277179 RCV001826509 RCV001829617 RCV005614431 RCV001835906 RCV001825411 RCV001825410 RCV001277187 RCV001830672 RCV001272243 RCV001832528
Hyperinsulinemic hypoglycemia, familial, 1	Pathogenic; Likely pathogenic	rs72559717, rs766033867, rs192863214, rs751848086, rs2133554613, rs760062120, rs2133539303, rs748233295, rs779736828, rs1462559571, rs2133402479, rs1564976749, rs769989185, rs745349258, rs758231286, rs1160946320, rs2133411551, rs756823374, rs2133738442, rs2133737961, rs2133728449, rs2133616750, rs2133460799, rs587783169, rs1957198348, rs2133430623, rs1554906786, rs1265410646, rs2496452651, rs2496898064, rs2496519550, rs2496668119, rs2496465221, rs2496464774, rs2496811011, rs2496853251, rs2496475095, rs2496865274, rs2496663531, rs2496781833, rs1355146733, rs2496512657, rs2496465239, rs2496465721, rs2496527262, rs2496671115, rs2496919200, rs2496672003, rs2496527196, rs2496475651, rs2496513303, rs2496844281, rs2496668620, rs2496853367, rs1954013968, rs2496810710, rs2496852584, rs2496450975, rs2496843903, rs2496852810, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs2133394768, rs774574576, rs772723050, rs781059815, rs2496931481, rs773306994, rs151344624, rs776610373, rs797045212, rs797045211, rs797045209, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852672, rs377405677, rs2496929792, rs2496530024, rs886039877, rs886041392, rs886041391, rs137852675, rs530152803, rs552324811, rs775657272, rs764564256, rs754232612, rs766921341, rs776027296, rs1252605804, rs767500007, rs1564964065, rs766312766, rs1407486337, rs1953845407, rs2496469826, rs1436692401, rs2496572258, rs772026262, rs2496667722, rs760494159, rs2496469312, rs72559723, rs2496577975, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs193922400, rs137852676, rs193922402, rs980458021, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1185034563, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs1409900082, rs766431403, rs746714109, rs751279984, rs770664202, rs919281813, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs1554949196, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1591896370, rs753296261, rs781617345, rs1476853180, rs1484689392	RCV001376163 RCV003322267 RCV003321835 RCV003321834 RCV002493934 RCV002499797 RCV001536020 RCV003321873 RCV005040402 RCV003321875 RCV003388053 RCV003321878 RCV005042680 RCV003321888 RCV002490136 RCV005050494 RCV003225209 RCV003321889 RCV002052034 RCV002052035 RCV002052036 RCV002052037 RCV002052039 RCV000144992 RCV004577370 RCV002251298 RCV004577372 RCV004577373 RCV002306230 RCV004577375 RCV002309689 RCV002309725 RCV004577376 RCV004577377 RCV004577378 RCV002310033 RCV002307878 RCV004577379 RCV002308143 RCV002308165 RCV002308211 RCV002308337 RCV002308346 RCV004577380 RCV002309068 RCV004577381 RCV004577382 RCV002309389 RCV004577383 RCV002306873 RCV002306966 RCV002307153 RCV002310351 RCV002310395 RCV002310409 RCV004577384 RCV002310486 RCV004577385 RCV004577386 RCV002310577 RCV000169185 RCV000169299 RCV000169253 RCV000169265 RCV000169216 RCV000169276 RCV000169482 RCV003227081 RCV005045196 RCV003321968 RCV003321969 RCV005045198 RCV003321952 RCV000177757 RCV005047417 RCV000193129 RCV000193386 RCV002500586 RCV000194857 RCV000192482 RCV000193936 RCV000984139 RCV000666191 RCV000009654 RCV000009656 RCV000009662 RCV000009663 RCV000009664 RCV000009667 RCV005047440 RCV004786882 RCV003227460 RCV000256388 RCV000673057 RCV000984137 RCV003322255 RCV003322258 RCV003322260 RCV003322261 RCV003322262 RCV003322266 RCV003322268 RCV003322271 RCV003322272 RCV003322273 RCV003322274 RCV003322277 RCV003322281 RCV003405215 RCV004719332 RCV005047597 RCV004596587 RCV005871219 RCV005047770 RCV005047758 RCV005047774 RCV000009655 RCV005040700 RCV000411593 RCV000410347 RCV000410895 RCV000409731 RCV000409962 RCV000411351 RCV000411098 RCV000410965 RCV000412208 RCV000409175 RCV000502822 RCV000503504 RCV000499389 RCV000502550 RCV000500331 RCV000503807 RCV004577338 RCV000668965 RCV003989301 RCV003321485 RCV000169593 RCV000032668 RCV000666072 RCV000763236 RCV000671355 RCV000671108 RCV000674549 RCV000667823 RCV000669782 RCV000667689 RCV000673056 RCV000668105 RCV000672131 RCV000674705 RCV000669163 RCV000667948 RCV000669471 RCV000669267 RCV000665712 RCV000667913 RCV000666829 RCV000672393 RCV000667182 RCV000666204 RCV000672727 RCV000671753 RCV001174850 RCV002499280 RCV001192814 RCV001290313 RCV003321734 RCV000988492 RCV003321733 RCV005049702 RCV005049747 RCV002497433 RCV003321815 RCV003321823
Leucine-induced hypoglycemia	Likely pathogenic; Pathogenic	rs2133554613, rs760062120, rs2133539303, rs779736828, rs1462559571, rs1564976749, rs769989185, rs745349258, rs758231286, rs1160946320, rs756823374, rs587783169, rs2496530915, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs774574576, rs2496931481, rs151344624, rs776610373, rs797045209, rs797045213, rs761749884, rs863225280, rs151344623, rs28936370, rs28938469, rs28936371, rs137852672, rs377405677, rs766312766, rs1953845407, rs1436692401, rs2496667722, rs760494159, rs2496469312, rs2496577975, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs201682634, rs72559715, rs757171524, rs139328569, rs768951263, rs137852676, rs193922402, rs980458021, rs200670692, rs72559734, rs372307320, rs1446306735, rs766431403, rs746714109, rs751279984, rs770664202, rs1411638309, rs769569410, rs72559730, rs367850779, rs1382448285, rs750586210, rs1591896370, rs753296261, rs781617345	RCV002493934 RCV002499797 RCV001536020 RCV005040402 RCV005040403 RCV005040405 RCV005042680 RCV005042602 RCV002490136 RCV005050494 RCV005042606 RCV005049430 RCV002283782 RCV002492687 RCV005042353 RCV005049450 RCV002505223 RCV002492688 RCV000763234 RCV005045196 RCV005045198 RCV005042381 RCV005047417 RCV002500586 RCV005049469 RCV005042410 RCV005042434 RCV005049326 RCV002504772 RCV005042018 RCV005042019 RCV005042021 RCV005047440 RCV005047527 RCV003405215 RCV005047597 RCV005047770 RCV005047758 RCV005047774 RCV005040700 RCV005049532 RCV002504200 RCV005044612 RCV002502425 RCV002502422 RCV002502430 RCV000763232 RCV005044751 RCV002496936 RCV002490827 RCV005042088 RCV002477010 RCV005042102 RCV002491164 RCV000763236 RCV005046912 RCV002485539 RCV005049641 RCV005357891 RCV002477497 RCV005046855 RCV005046897 RCV002499280 RCV002493256 RCV002501017 RCV005047042 RCV005047041 RCV005049702 RCV005049747 RCV002497433
Maturity-onset diabetes of the young	Pathogenic; Likely pathogenic	rs1591832463, rs769989185, rs786204676, rs151344624, rs863225280, rs377405677, rs886041391, rs1260178539, rs1554924035, rs1554913069, rs1554933565, rs766431403, rs758844607, rs1564869850, rs193922401, rs755259997, rs1564977373	RCV002267110 RCV004699641 RCV002251436 RCV002243861 RCV002253285 RCV005438173 RCV002274007 RCV002266978 RCV002267010 RCV002251510 RCV002253561 RCV002246134 RCV002245085 RCV002245621 RCV002307604 RCV002251514 RCV002253608
Maturity-onset diabetes of the young, type 12	Likely pathogenic; Pathogenic	rs797045209	RCV005410894
Monogenic diabetes	Likely pathogenic; Pathogenic	rs137852673, rs769518471, rs193922401	RCV001249022 RCV000664138 RCV001249023
Neonatal diabetes mellitus	Pathogenic; Likely pathogenic	rs1591832463, rs2133680409, rs2133680286, rs753618932, rs2133401009, rs2133390317, rs72559722, rs786204676, rs797045209, rs80356637, rs886041391, rs1048095, rs1554909277, rs1260178539, rs193922396, rs193922401, rs1554924035, rs1554913069, rs1554933565, rs766431403, rs758844607, rs1554949196, rs1564869850, rs755259997, rs1564977373, rs1484689392	RCV004556840 RCV002052021 RCV002052022 RCV002052023 RCV002052026 RCV002052027 RCV004555856 RCV004556759 RCV002051825 RCV002051781 RCV004556774 RCV002051791 RCV002051860 RCV004556802 RCV000029251 RCV000029262 RCV004556813 RCV004556814 RCV004556815 RCV004556811 RCV004556810 RCV002051878 RCV004556818 RCV004556817 RCV004556820 RCV004556837
Permanent neonatal diabetes mellitus	Pathogenic; Likely pathogenic	rs779736828, rs72559722, rs80356637, rs80356642, rs80356653, rs137852673, rs80356651, rs193929360, rs193929366, rs1048095, rs72559715, rs1554909277, rs193922400, rs72559734	RCV004690140 RCV000763234 RCV000020286 RCV000009671 RCV000009672 RCV000502425 RCV000009678 RCV000009681 RCV000020290 RCV000020291 RCV000763232 RCV000500160 RCV005888691 RCV000763236
See cases	Likely pathogenic; Pathogenic	rs760062120, rs750586210	RCV004797943 RCV004584412
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs781090024, rs768820409, rs2133487890, rs2133554613, rs1591832463, rs760062120, rs2133400786, rs2133539303, rs758754046, rs779736828, rs1462559571, rs1564976749, rs769989185, rs2133738006, rs745349258, rs758231286, rs1160946320, rs751826777, rs2133678848, rs2133679771, rs756823374, rs2133737961, rs587783169, rs1265410646, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs774574576, rs1360606629, rs2496931481, rs773306994, rs151344624, rs776610373, rs2496851854, rs797045209, rs797045207, rs797045213, rs761749884, rs863225280, rs2496845455, rs139964066, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852672, rs137852673, rs137852674, rs377405677, rs886041392, rs754232612, rs766312766, rs2496527659, rs1554926476, rs2496557533, rs2496854288, rs2496469826, rs2496586530, rs2496470052, rs2496919542, rs2496529464, rs2496464688, rs2496519759, rs780950595, rs2496526832, rs2496845416, rs2496930134, rs2496519859, rs2496587224, rs1436692401, rs2496526474, rs1554904006, rs2496572258, rs2496558567, rs2496571287, rs1320325015, rs2496672554, rs2496844552, rs2496462958, rs2496780919, rs2496526463, rs2496918299, rs2496854886, rs1554904136, rs2496687937, rs2496452499, rs2496557201, rs2496845533, rs1179991710, rs2496919689, rs1955658464, rs200687571, rs2496667722, rs760494159, rs2496469312, rs2496844049, rs2496543075, rs2496542700, rs2496531528, rs2496929678, rs797045211, rs2496854823, rs1954644231, rs2496593562, rs1225789185, rs2496854928, rs2496577975, rs2496845350, rs2496435013, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs201682634, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs1260178539, rs137852676, rs193922402, rs980458021, rs200670692, rs72559734, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1185034563, rs766431403, rs746714109, rs751279984, rs770664202, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1591896370, rs753296261, rs781617345, rs1476853180, rs1484689392	RCV003473896 RCV003462948 RCV003469702 RCV002493934 RCV003473930 RCV002499797 RCV004570997 RCV001536020 RCV003475088 RCV005040402 RCV005040403 RCV003470933 RCV002290835 RCV003475149 RCV003471186 RCV002490136 RCV005050494 RCV003464191 RCV004571717 RCV003464178 RCV005042606 RCV004572012 RCV003467205 RCV003471312 RCV002492687 RCV003468839 RCV005049450 RCV002505223 RCV002492688 RCV000763234 RCV003459723 RCV003465921 RCV005045198 RCV003464567 RCV003462282 RCV003475528 RCV003465811 RCV001640282 RCV003462298 RCV004567393 RCV003468881 RCV003462355 RCV003475477 RCV003469115 RCV003466843 RCV003473069 RCV002504772 RCV003473070 RCV003466844 RCV003473071 RCV000009674 RCV000009676 RCV005047440 RCV004567821 RCV003475560 RCV005047527 RCV003470014 RCV003470049 RCV003470113 RCV003470122 RCV003470133 RCV003472539 RCV003472559 RCV003463460 RCV003471849 RCV003466300 RCV003472452 RCV003471690 RCV003463322 RCV003472476 RCV003463382 RCV003461659 RCV003468260 RCV003463196 RCV003471612 RCV003471635 RCV003476601 RCV003476614 RCV003474037 RCV003463552 RCV003460047 RCV003460107 RCV003470252 RCV003461952 RCV003470267 RCV003463105 RCV003463163 RCV003466331 RCV003472577 RCV003472628 RCV003472771 RCV003472798 RCV003472831 RCV003472873 RCV003472891 RCV004574103 RCV004574104 RCV005047770 RCV005047758 RCV005047774 RCV004576217 RCV004576225 RCV004576296 RCV004576305 RCV004574329 RCV004574420 RCV004574425 RCV004574438 RCV004576394 RCV004576609 RCV004576691 RCV004576758 RCV004576858 RCV004574851 RCV003470337 RCV003463787 RCV002504200 RCV003470338 RCV002502425 RCV003475953 RCV002502430 RCV000763232 RCV003464074 RCV003470624 RCV002496936 RCV003470625 RCV003464105 RCV003466873 RCV002477010 RCV003466885 RCV002491164 RCV000763236 RCV003459621 RCV003465538 RCV002485539 RCV003465494 RCV003459587 RCV003459592 RCV003465492 RCV002477497 RCV003472073 RCV005046897 RCV002249395 RCV003465447 RCV003465516 RCV003465648 RCV002255099 RCV002493256 RCV002501017 RCV003467313 RCV003467312 RCV003461054 RCV005049702 RCV003467766 RCV002497433 RCV004570600 RCV003469507
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs776610373, rs765090096	RCV005927010 RCV005909102

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cerebral edema	Conflicting classifications of pathogenicity	rs1799857	RCV002226677
Cervical cancer	Likely benign	rs78418682	RCV005917864
Congenital isolated hyperinsulinism	Uncertain significance	rs771075821	RCV003321541
Diabetes mellitus	Uncertain significance	rs368114790	RCV000144978
Familial cancer of breast	Benign	rs1799854	RCV005886984
Hereditary disease	Conflicting classifications of pathogenicity	rs372766371	RCV001824171
Hyperinsulinemia	Conflicting classifications of pathogenicity	rs1048099, rs1800853	RCV002226679 RCV002226656
Hyperinsulinism, Dominant/Recessive	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs587783164, rs1799859, rs757110, rs541244107, rs886048056, rs886048053, rs142441893	RCV000271496 RCV000276828 RCV000269263 RCV000371969 RCV000403962 RCV000396924 RCV000264451
Hypoglycemia	Conflicting classifications of pathogenicity	rs67254669, rs1554906786	RCV003491936 RCV002284423
Neonatal hypoglycemia	Benign	rs1805036	RCV002226680
Pulmonary arterial hypertension	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs766068851, rs2133711315, rs117189973, rs1201126343, rs199616008, rs117874766, rs67254669, rs200670709, rs138687850, rs139524121, rs561593131	RCV005361746 RCV005361747 RCV005361965 RCV005356069 RCV005363058 RCV005365113 RCV005361103 RCV005863900 RCV005356014 RCV005357959 RCV003320367
Sarcoma	Conflicting classifications of pathogenicity	rs771196330	RCV005913688
Transient Neonatal Diabetes, Dominant	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs587783164, rs1799859, rs757110, rs541244107, rs886048056, rs886048053, rs142441893	RCV000363722 RCV000330489 RCV000326750 RCV000281013 RCV000296202 RCV000312668 RCV000373169
Transitory neonatal diabetes mellitus	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1953897394, rs1956875186, rs1554949176, rs370169777, rs193922403, rs745860035, rs1483834388, rs770152618, rs550788491, rs4148644, rs4148632, rs4148631, rs4148630, rs4148626, rs771014822, rs60824529, rs75376282, rs73423037, rs73423036, rs2106865, rs149861153, rs739689, rs116132921, rs1109591, rs201000679, rs1411638309, rs760433463, rs886048047, rs1334003978, rs138642224, rs370636988, rs900191703, rs142155036, rs749271190, rs561593131, rs1317881086, rs750430789, rs948658520, rs376413488, rs1354438772, rs149279510, rs761960758, rs1317396512, rs1159625966, rs886048053, rs771942551, rs200708414, rs753296261, rs867541142, rs1057516946, rs1052653345, rs753335564, rs1554949196, rs1591896370, rs550990673, rs906180828, rs1283621955, rs756552692, rs886048056, rs768372267, rs587783175, rs371802112, rs763273046, rs750619309, rs1956364777, rs786204717, rs786204695, rs111967655, rs752809991, rs797045210, rs186634115, rs147623093, rs797045214, rs372930264, rs863225279, rs863225278, rs757650373, rs1564905676, rs931436550, rs387906408, rs1395224084, rs193929369, rs78338172, rs113282901, rs764779784, rs886038286, rs181998151, rs137873871, rs886039301, rs768448830, rs367862706, rs182340196, rs745895362, rs756328102, rs886048052, rs150316347, rs886048055, rs368894930, rs149872185, rs780203284, rs58368439, rs138141427, rs377045545, rs886048049, rs144207158, rs761748692, rs773087569, rs758744263, rs886048046, rs373737642, rs886048050, rs544550330, rs371089976, rs367974472, rs886048051, rs140068774, rs146156937, rs886048054, rs199925058, rs77498130, rs886048048, rs765708759, rs780868010, rs764107333, rs142441893, rs1057516655, rs1057517406, rs1057517050, rs1057516890, rs1057516718, rs1057517274, rs1057516439, rs1057516585, rs1057517420, rs1057517019, rs1057516589, rs1057516542, rs1057516509, rs1057516665, rs1057517128, rs1057516654, rs1057517199, rs1057517015, rs1057523131, rs577545383, rs763104338, rs142272833, rs553746345, rs1554904102, rs1554904936, rs1554905662, rs1554917411, rs1554924142, rs1554926539, rs1554926621, rs150956385, rs902564696, rs546148657, rs184908312, rs796891223, rs373178978, rs1554905145, rs372198547, rs1354859002, rs192863214, rs200823913, rs188075767, rs183921963, rs193922394, rs193922395, rs61748766, rs193922397, rs193922398, rs113873225, rs141322087, rs193922399, rs186946111, rs193922404, rs193922405, rs193922406, rs193922408, rs757018137, rs1564980510, rs763028380, rs1554933525, rs1554905775, rs1554906389, rs1554904088, rs1554904107, rs1554904136, rs1554904565, rs1324242791, rs1225850029, rs774508952, rs1554924630, rs1554933031, rs1554942148, rs1449198328, rs1554949242, rs1554904006, rs1554904554, rs1554905805, rs1340859533, rs1554906786, rs1554906790, rs1271445653, rs1554924540, rs1554924660, rs755707550, rs1554933415, rs1554905787, rs1554942704, rs1554910610, rs1554946437, rs1554949190, rs1554949238, rs1554910616, rs1554910621, rs1554910736, rs1263082097, rs1554914779, rs774574576, rs373894772, rs201419039, rs1554926465, rs1554926476, rs1554938866, rs149347593, rs772409200, rs1554943599, rs1554948310, rs1554948445, rs1183465672, rs1554903370, rs1554904904, rs1554905655, rs1554906427, rs1554906449, rs1554906450, rs1554911369, rs1554912381, rs1554916621, rs1554923999, rs1554924079, rs1554933168, rs1167993548, rs1247430874, rs1564874456, rs75967811, rs1564955834, rs762919223, rs149331388, rs1564890766, rs565662182, rs1564955779, rs1591928988, rs760196276, rs544133684, rs201662945, rs58820146, rs189746511, rs368708177, rs370095966, rs374743072, rs775001123, rs17846762, rs1287759139, rs138521721, rs372524091, rs1591928554, rs145386421, rs146584228, rs1211875269, rs775134825, rs1038735802, rs200693100, rs574487898, rs1007498516, rs17846721, rs773042150, rs374880588, rs752222583, rs574684578, rs1207446214, rs547430068, rs137868047, rs368587840, rs1591744434, rs774603418, rs757172850, rs371724951, rs1191652273, rs766374930, rs565996783, rs148811815, rs1391155490, rs1256418853, rs763978514, rs1216809389, rs569222899, rs535141079, rs1591896019, rs767395738, rs752679178, rs369136858, rs1564874257, rs1591715618, rs1591717230, rs775087598, rs770984647, rs1273503048, rs774224706, rs754304889, rs1476016104, rs1591718533, rs776165640, rs748169568, rs373478721, rs746249607, rs562715858, rs1591714060, rs746146690, rs778961697, rs372257088, rs757191246, rs771538281, rs778240883, rs1591749128, rs747902103, rs1591794603, rs201724038, rs1591797830, rs745652559, rs776590557, rs1591845922, rs747552453, rs752188418, rs1591885314, rs151211613, rs1591916038, rs1591928903, rs757935183, rs758231286, rs1591710040, rs1591730796, rs1564898910, rs556416038, rs764178736, rs17846731, rs765529676, rs1591890137, rs143557848, rs1591794677, rs1591834223, rs756808492, rs1591705863, rs562680077, rs1954568421, rs1955018104, rs369810811, rs1953847411, rs540122589, rs1331539684, rs191697443, rs1956631543, rs1956635063, rs776498313, rs1433841842, rs147276708, rs750165947, rs1957204723, rs755745806, rs763302648, rs1218098329, rs200053398, rs771196330, rs996321405, rs267602801, rs777461294, rs1954472209, rs1954474111, rs1954577994, rs1954644972, rs1953885548, rs1953791177, rs1957196622, rs1847952281, rs1954422814, rs1956391008, rs1954765607, rs148342166, rs1955658642, rs1953962707, rs747402972, rs1953787387, rs755577144, rs1953885229, rs1953901271, rs201955628, rs1345535328, rs576340695, rs368419322, rs769968875, rs1954058406, rs770028071, rs565968675, rs372561049, rs776313489, rs765913448, rs1954549447, rs1254230359, rs761160857, rs748585974, rs1954760501, rs1954764675, rs1954870052, rs144200345, rs370096884, rs1955020359, rs534103042, rs376206979, rs374869130, rs1955706366, rs1362268812, rs775894336, rs1956392066, rs751643248, rs1591846104, rs768582290, rs1957153674, rs370697909, rs751446018, rs1847954058, rs372766371, rs1323334420, rs763159607, rs1953879871, rs1953988179, rs1955709311, rs377104807	RCV002245965 RCV002259552 RCV002253809 RCV002254350 RCV002286528 RCV002251590 RCV002253814 RCV002251592 RCV002267115 RCV002285181 RCV002285177 RCV002285179 RCV002286530 RCV002286532 RCV002259557 RCV002259700 RCV002266926 RCV002243799 RCV002251736 RCV002273961 RCV002243801 RCV002243803 RCV003105797 RCV002243805 RCV002273818 RCV002244304 RCV002244555 RCV002244558 RCV002244560 RCV002245266 RCV002245499 RCV002245500 RCV002245503 RCV002245540 RCV002245542 RCV002251306 RCV002251314 RCV002251316 RCV002251699 RCV002251701 RCV002251703 RCV002251707 RCV002251718 RCV002251720 RCV002251722 RCV002251724 RCV002251726 RCV002251728 RCV002252672 RCV002254003 RCV002254008 RCV002254140 RCV002254147 RCV002254247 RCV002254250 RCV002254252 RCV002254254 RCV002254256 RCV002254366 RCV002254368 RCV002259542 RCV002259564 RCV002267568 RCV002267570 RCV002267575 RCV002251439 RCV002254282 RCV002251441 RCV002243874 RCV002246114 RCV002250592 RCV002266930 RCV002253278 RCV002273819 RCV002243880 RCV002251445 RCV002266933 RCV002251423 RCV002266899 RCV002243633 RCV002254261 RCV002243635 RCV002243934 RCV002243932 RCV002243930 RCV002266940 RCV002253317 RCV002254159 RCV002244727 RCV002244742 RCV002244754 RCV002244773 RCV002250620 RCV002251458 RCV002251460 RCV002251462 RCV002266949 RCV002254289 RCV002254521 RCV002244756 RCV002244760 RCV002246117 RCV002246121 RCV002244763 RCV002244769 RCV002266951 RCV002261041 RCV002254161 RCV002244752 RCV002246115 RCV002244765 RCV002244767 RCV002244771 RCV002251452 RCV002251456 RCV002244775 RCV002266945 RCV002266947 RCV002254165 RCV002254292 RCV002244758 RCV002246119 RCV002251454 RCV002254163 RCV002244842 RCV002244848 RCV002274022 RCV002274020 RCV002244853 RCV002244850 RCV002244857 RCV002244846 RCV002251469 RCV002251475 RCV002251473 RCV002251471 RCV002251467 RCV002266959 RCV002266961 RCV002252112 RCV002253395 RCV002253397 RCV002254166 RCV002250627 RCV002259948 RCV002246123 RCV002244967 RCV002244965 RCV002244969 RCV002244972 RCV002244970 RCV002251480 RCV002251482 RCV002266973 RCV002267614 RCV002266971 RCV002254168 RCV002259966 RCV002253494 RCV002244992 RCV002244990 RCV002244988 RCV002246125 RCV002274051 RCV002251485 RCV002266981 RCV002266977 RCV002253499 RCV002254149 RCV002251928 RCV002266904 RCV002266906 RCV002251430 RCV002226655 RCV002243662 RCV002243664 RCV002254151 RCV002243666 RCV002243668 RCV002243670 RCV002243672 RCV002243674 RCV002253501 RCV002254154 RCV002259543 RCV002252198 RCV002245072 RCV002246127 RCV002245549 RCV002245084 RCV002245573 RCV002245560 RCV002245552 RCV002251494 RCV002251496 RCV002251502 RCV002267012 RCV002253557 RCV002254172 RCV002253560 RCV002245566 RCV002245575 RCV002245577 RCV002246129 RCV002246131 RCV002245568 RCV002250676 RCV002251500 RCV002267014 RCV002267005 RCV002252208 RCV002245571 RCV002253549 RCV002245547 RCV002254170 RCV002254175 RCV002254309 RCV002245564 RCV002245562 RCV002245579 RCV002245077 RCV002251498 RCV002251504 RCV002251749 RCV002267009 RCV002267007 RCV002267000 RCV002253551 RCV002253547 RCV002253545 RCV002254174 RCV002254308 RCV002273822 RCV002254306 RCV002245080 RCV002245075 RCV002274085 RCV002246137 RCV002246133 RCV002246139 RCV002245556 RCV002250678 RCV002267003 RCV002251508 RCV002251506 RCV002267002 RCV002254311 RCV002253553 RCV002245620 RCV002245618 RCV002254313 RCV002254177 RCV002245628 RCV002245626 RCV002267021 RCV002254315 RCV002273827 RCV002246141 RCV002245718 RCV002251527 RCV002251525 RCV002254340 RCV002267035 RCV002254179 RCV002245781 RCV002253711 RCV002251530 RCV002267038 RCV002260106 RCV002254529 RCV002254323 RCV002245739 RCV002245735 RCV002245741 RCV002245733 RCV002245737 RCV002251531 RCV002254182 RCV002253689 RCV002245744 RCV002245772 RCV002245752 RCV002245769 RCV002245755 RCV002245778 RCV002245767 RCV002246149 RCV002250700 RCV002250702 RCV002251533 RCV002251535 RCV002267045 RCV002267041 RCV002267047 RCV002267043 RCV002267052 RCV002253696 RCV002253694 RCV002259546 RCV002253703 RCV002260116 RCV002253700 RCV002254188 RCV002254186 RCV002254324 RCV002254184 RCV002245746 RCV002246147 RCV002246143 RCV002267050 RCV002245776 RCV002245749 RCV002252268 RCV002245761 RCV002245765 RCV002246145 RCV002253697 RCV002251538 RCV002245802 RCV002245798 RCV002274110 RCV002245812 RCV002245810 RCV002245815 RCV002245806 RCV002250708 RCV002250706 RCV002250704 RCV002251540 RCV002251757 RCV002267053 RCV002271342 RCV002267055 RCV002267058 RCV002267060 RCV002252277 RCV002259548 RCV002253756 RCV002253754 RCV002254190 RCV002254194 RCV002254327 RCV002253758 RCV002254192 RCV002245800 RCV002245808 RCV002251543 RCV002251545 RCV002253752 RCV002267062 RCV002252286 RCV002253761 RCV002245824 RCV002267064 RCV002252290 RCV002260128 RCV002245828 RCV002245835 RCV002251550 RCV002251548 RCV002245856 RCV002245858 RCV002245860 RCV002251555 RCV002251553 RCV002252318 RCV002254335 RCV002259549 RCV002253770 RCV002253772 RCV002253774 RCV002253776 RCV002254199 RCV002254201 RCV002267077 RCV002267075 RCV002254197 RCV002253777 RCV002243693 RCV002260148 RCV002245867 RCV002245874 RCV002251559 RCV002251562 RCV002245872 RCV002245896 RCV002253787 RCV002254206 RCV002245904 RCV002252346 RCV002251762 RCV002251566 RCV002251568 RCV002245909 RCV002245914 RCV002245916 RCV002245918 RCV002245920 RCV002245922 RCV002245924 RCV002245926 RCV002246152 RCV002246154 RCV002245928 RCV002245930 RCV002245932 RCV002245937 RCV002245939 RCV002250743 RCV002250745 RCV002250747 RCV002251572 RCV002251574 RCV002274176 RCV002273843 RCV002251578 RCV002251764 RCV002250748 RCV002267089 RCV002251580 RCV002251582 RCV002251584 RCV002267091 RCV002267093 RCV002267095 RCV002267097 RCV002252355 RCV002253792 RCV002254344 RCV002254345 RCV002259551 RCV002253795 RCV002253797 RCV002254208 RCV002254210 RCV002254347 RCV002253798 RCV002245943 RCV002246156 RCV002267099 RCV002253800

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	38212772
Acute Coronary Syndrome	Associate	21592353
Adenocarcinoma of Lung	Associate	32337264, 33879658, 37589509
Adenoma Islet Cell	Associate	31577849
Adenomatosis Pulmonary	Associate	11272143
Albuminuria	Associate	38164708
Alzheimer Disease	Associate	35654594
Amyotrophic Lateral Sclerosis	Associate	29492846
Attention Deficit Disorder with Hyperactivity	Associate	33184150
Beckwith Wiedemann Syndrome	Associate	36339418
Brain Edema	Associate	27677908, 29674479, 30484364, 33430695, 35474489, 39489406
Brain Injuries	Associate	33430695
Brain Injuries Traumatic	Associate	27677908, 29674479, 30484364, 33430695, 34309670, 39489406
Breast Neoplasms	Associate	26681085
Carcinoma Hepatocellular	Associate	35363194
Cardiomyopathy Dilated	Associate	22608503
Cardiovascular Diseases	Associate	40334645
Carotid Stenosis	Associate	32576189
Central Nervous System Diseases	Associate	39227362
Cerebral Hemorrhage Traumatic	Associate	34309670
Cerebral Infarction	Associate	23965746, 37777789, 39489406
Coma	Associate	33430695
Congenital Hyperinsulinism	Associate	11018078, 11228046, 11272143, 11395395, 18390792, 20830240, 20943779, 21411514, 21536946, 21716120, 21968111, 22031516, 22106158, 23266803, 23345197, 23563683, 23665564, 23869231, 24814349, 24932607, 25008049, 25720052, 26316440, 26758964, 27573238, 27934599, 27934605, 28600547, 28663158, 29217498, 29739729, 30462810, 31208162, 31218401, 31287126, 31464105, 31479591, 31577849, 32203961, 32482020, 33410562, 34253504, 34633981, 34927408, 34992182, 36339418, 36504295, 36890748, 37860935, 37895301, 38033998, 38212772, 39620188, 39741883, 9769320
Contusions	Associate	33430695
Coronary Artery Disease	Stimulate	21592353
Coronary Artery Disease	Associate	34385509
Coronary Disease	Associate	28411266
Developmental Disabilities	Associate	19139106
Diabetes Gestational	Associate	11018078, 22927833
Diabetes Mellitus	Associate	11272143, 16885549, 17213273, 17259403, 17446535, 17668386, 18025408, 18025464, 18346985, 18390792, 18497752, 18662362, 19766903, 21049026, 21544516, 21674179, 21953423, 22056417, 22210575, 22701567, 22796691, 22815030, 24827651, 25238204, 25720052, 26181369, 26208381, 26758964, 26839896, 27271189, 27889714, 28667717, 29207974, 29329106, 29739729, 30068891, 31196892, 31291970, 31479591, 32792356, 32820876, 33184150, 33498041, 34566892, 35992135, 36208030, 37897565, 38164708, 38408297, 38513803
Diabetes Mellitus Permanent Neonatal	Associate	17213273, 17446535, 17668386, 17919176, 18162506, 19496967, 21273495, 21544516, 22672870, 22796691, 23050777, 24618446, 27098067
Diabetes Mellitus Transient Neonatal 1	Associate	16885549, 17446535, 17919176, 18025408, 18025464, 18346985, 18497752, 18678608, 19139106, 20022885, 20049716, 22187380, 22451668, 22796691, 23665564, 25028140, 25755231, 26208381, 26839896, 27889714, 28511139, 28663158, 30068891, 31390154, 33148726, 33498041, 37897565
Diabetes Mellitus Transient Neonatal 1	Stimulate	33184150
Diabetes Mellitus Type 1	Associate	21544516, 22210575, 30068891
Diabetes Mellitus Type 2	Associate	16885549, 17259403, 18346985, 18599530, 19766903, 22151254, 22187380, 22210575, 22466262, 22662265, 22701567, 23665564, 25368101, 26181369, 28095440, 28411266, 28587604, 29439679, 29751826, 30068891, 31118371, 31595705, 31638168, 33046911, 33893274, 34135026, 34462253, 35002955, 35992135, 36208030, 36401380, 36504295, 38164708, 38353623, 40303944
Diabetic Ketoacidosis	Associate	28173619, 28511139, 31390154
Diabetic Nephropathies	Associate	36314849
Diabetic Neuropathies	Associate	22210575
Down Syndrome	Associate	35294086
Drug Resistant Epilepsy	Associate	21674179
Dwarfism Pituitary	Associate	36890748
Edema	Associate	23965746, 27677908
Endocrine System Diseases	Associate	27246810
Epilepsy	Associate	19139106
Epilepsy Post Traumatic	Associate	26398596
Fetal Macrosomia	Associate	21674179
Focal Infection	Associate	21716120
Focal Infection	Stimulate	23965746
Genetic Diseases Inborn	Associate	11018078, 24827651, 32792356, 38408297, 9769320
Glioma	Associate	32728190
Glucose Intolerance	Associate	22210575, 30068891
Glucose Metabolism Disorders	Associate	22927833, 35002955
Hemorrhage	Associate	23280795, 33430695
Hyperglycemia	Associate	18346985, 25720052
Hyperglycemia	Inhibit	23985558
Hyperinsulinism	Associate	10193261, 11272143, 18390792, 20049716, 21536946, 22796691, 23273570, 25555642, 25720052, 29739729, 31464105, 33762279, 35294086, 35674212, 38212772, 9769320
Hypertensive Retinopathy	Associate	38164708
Hypoglycemia	Associate	25720052, 29739729, 31464105, 31479591, 37895301
Hypoxia	Stimulate	15141159
Infarction	Stimulate	23965746
Infarction	Associate	39489406
Inferior Wall Myocardial Infarction	Associate	23965746, 39489406
Inflammation	Associate	21592353
Insulin Resistance	Associate	11018078, 18346985, 25720052
Insulinoma	Associate	39536727
Intellectual Disability	Associate	38212772
Intracranial Hypertension	Associate	30484364, 33430695
Ischemia	Associate	39489406
Kabuki syndrome	Associate	36890748
Ketosis	Associate	30068891
Kidney Diseases	Associate	36408280
Kidney Failure Chronic	Associate	40334645
Major Affective Disorder 2	Associate	21544516
Mandibular Injuries	Associate	36890748
Mason Type Diabetes	Associate	35002955, 35992135, 36626423
Metabolic Syndrome	Inhibit	25867398
Metabolic Syndrome	Associate	25867398
Microphthalmia Isolated 1	Associate	27173951
Moyamoya Disease	Associate	39367156
Multiple Endocrine Neoplasia Type 1	Associate	37895301
Myocardial Infarction	Associate	32576189
Necrosis	Associate	23965746
Neoplasms	Associate	11092615, 15141159, 33879658, 37171501
Nerve Degeneration	Associate	33430695
Neuroendocrine Tumors	Associate	39536727
Neurologic Manifestations	Associate	27677908, 29674479, 30484364
Noninsulin dependent diabetes mellitus with deafness	Associate	34462253
Obesity	Associate	22056417
Polycystic Kidney Autosomal Dominant	Associate	22466262
Potassium aggravated myotonia	Associate	27573238
Pseudoacromegaly with Severe Insulin Resistance	Associate	38408297
Pulmonary Arterial Hypertension	Associate	30354297, 32934261, 34199176, 39367156
Renal Insufficiency	Associate	40334645
Sepsis	Associate	39227362
Somatoform Disorders	Associate	11395395
Stomach Neoplasms	Associate	31852133
Stroke	Associate	33430695, 37777789
Stroke Lacunar	Associate	23965746
Sudden Infant Death	Associate	35474489
Tang Hsi Ryu syndrome	Associate	29674479
Uniparental Disomy	Associate	36339418
Uterine Cervical Neoplasms	Stimulate	37443304
Uterine Cervicitis	Stimulate	37443304
Vascular Diseases	Associate	34199176
Warburg Sjo Fledelius syndrome	Associate	32576189