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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal dominant hyperinsulinism due to SUR1 deficiency	Likely pathogenic; Pathogenic	rs72559715	RCV001848864	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young, type 12	Likely pathogenic; Pathogenic	rs797045209	RCV005410894	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Likely pathogenic; Pathogenic	rs137852673, rs769518471, rs193922401	RCV001249022 RCV000664138 RCV001249023	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs776610373, rs765090096	RCV005927010 RCV005909102	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SULFONYLUREA RECEPTOR 1 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO SUR1 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral edema	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital isolated hyperinsulinism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL RETROGNATHISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEND SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus	Uncertain significance	ClinVar Disgenet, GWAS catalog, GenCC Disgenet, GWAS catalog, GenCC Disgenet, GWAS catalog, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NONINSULIN-DEPENDENT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, 3	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SULFONYLUREA RECEPTOR 1 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO SUR1 DEFICIENCY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism, Dominant/Recessive	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGLYCEMIA, LEUCINE-INDUCED	—	CTD, Disgenet, GenCC, HPO CTD, Disgenet, GenCC, HPO CTD, Disgenet, GenCC, HPO CTD, Disgenet, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED PERMANENT NEONATAL DIABETES MELLITUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hypoglycemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT NEONATAL DIABETES MELLITUS	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Neonatal Diabetes, Dominant	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transitory neonatal diabetes mellitus	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	28986057		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11526243		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11358354, 14500356, 21059853		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10193261		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30079884		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35654594	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29492846		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29492846	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23462326		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31351425		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30302814		★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	23299480		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30302814		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	33184150	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant hyperinsulinism due to SUR1 deficiency	Hyperinsulinism	ORPHANET_DG	11018078, 25733449		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant hyperinsulinism due to SUR1 deficiency	Hyperinsulinism	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive hyperinsulinism due to SUR1 deficiency	Hyperinsulinism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	17942821		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Edema	Brain edema	Pubtator	27677908, 29674479, 30484364, 33430695, 35474489, 39489406	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	33430695	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	27677908, 29674479, 30484364, 33430695, 34309670, 39489406	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	30079884		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11591886, 18310281, 23556449, 26681085		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26681085	Associate	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	18025464		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	26692467		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35363194	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20718756		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	22608503	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19787700		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	40334645	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	32576189	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	39227362	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	22086197, 23965746, 29617457		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	23965746, 37777789, 39489406	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17516295, 22714048, 27942589, 30147301		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30079884		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12960340		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	31538150		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 4th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	22294766		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	22294766		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	BEFREE	17942821		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	10323384, 10334322, 10447255, 10487673, 10615958, 10895035, 10931418, 11018078, 11228046, 11395395, 11457841, 11867634, 11912517, 12364426, 12559865, 12627323, 12941782, 14518075, 15562009, 15868462, 16969006, 17003566, 17114887, 17466004, 17575084, 17597441, 17942822, 17986831, 18156285, 18250167, 18796520, 18990670, 19151370, 19254908, 19475716, 20042013, 20215776, 20432820, 20685672, 21199866, 21378087, 21411514, 21422196, 21536946, 21716120, 21967988, 22031516, 22106158, 22308858, 22876555, 23261959, 23266803, 23563683, 23744072, 23903354, 24145932, 24285683, 24686051, 24814349, 24945427, 25008049, 25117148, 25201519, 25668678, 25720052, 25733449, 25765446, 26092864, 26162674, 26316429, 26316440, 26758964, 26908106, 27188453, 27754802, 27898257, 27934599, 27934605, 28270372, 28328534, 28346775, 28600547, 28663158, 28740482, 28752386, 28985184, 29127764, 29217498, 30114684, 30386300, 30587573, 30730840, 31287126, 31464105, 31479591, 7716548, 9356020, 9469993, 9618169, 9648840, 9769320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	CTD_human_DG	10334322, 15579781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	CLINVAR_DG	14715863, 14764815, 15562009, 15579781, 16186397, 16357843, 16429405, 16969006, 17378627, 17466004, 18988933, 20427569, 20685672, 21716120, 23067144, 23275527, 23345197, 24145932, 24616771, 26180531, 27188453, 27573238, 7716548, 8923011, 9618169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	LHGDN	17597441, 17942822, 18988933		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21586291		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corneal Diseases	Corneal Diseases	BEFREE	23299480		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19577714		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21592353	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	34385509	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	28411266	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	28272106		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15694001, 29941318, 7517672		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	15846842		★☆☆☆☆ Found in Text Mining only
DEND syndrome	DEND Syndrome	BEFREE	16613899, 17584766, 22326206, 29058186		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEND syndrome	DEND Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	30180864		★☆☆☆☆ Found in Text Mining only
Dermatomyositis, Childhood Type	Dermatomyositis	BEFREE	24286299		★☆☆☆☆ Found in Text Mining only
Developmental Delay, Epilepsy, and Neonatal Diabetes	Developmental delay	BEFREE	16613899, 17389331, 19139106, 23667671, 27849623, 29058186		★☆☆☆☆ Found in Text Mining only
Developmental Delay, Epilepsy, and Neonatal Diabetes	Developmental delay	ORPHANET_DG	21109997, 22498247		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	19139106	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10819247, 11272143, 11289470, 11318841, 11912517, 12118200, 12559865, 15579791, 16416420, 16885549, 17186387, 17259403, 18339976, 18346985, 18390792, 18662362, 18758683, 18767144, 18998097, 19498446, 19787700, 20042013, 20099993, 21981029, 22210575, 22326206, 22381691, 22562119, 22831748, 23050777, 23828045, 23903354, 26181369, 28985184, 29207974, 30068891, 30734462, 31479591, 31538150, 9032109		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	11018078, 22927833	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10819247, 11272143, 11289470, 11318841, 11912517, 12118200, 12559865, 15579791, 16416420, 16885549, 17186387, 17259403, 18339976, 18346985, 18390792, 18662362, 18758683, 18767144, 18998097, 19498446, 19787700, 20042013, 20099993, 21674179, 21981029, 22210575, 22308858, 22326206, 22381691, 22562119, 22831748, 23050777, 23828045, 23903354, 24768178, 24827651, 24941889, 26181369, 28985184, 29207974, 30068891, 30734462, 31479591, 31538150, 9032109		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus	Diabetes mellitus	Pubtator	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	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus	Diabetes Mellitus	LHGDN	17213273, 17446535		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	17213273, 17446535, 17668386, 17919176, 18162506, 19496967, 21273495, 21544516, 22672870, 22796691, 23050777, 24618446, 27098067	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	33184150	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21544516, 22210575, 30068891	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	15277376, 17535866, 19342262		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	18025464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	18025464		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10333056, 10819247, 10857971, 11030411, 11318841, 11343328, 11692183, 11938023, 12149601, 12437993, 12540637, 15111507, 15579791, 15842514, 16873704, 17118480, 17207885, 17259403, 17342155, 17516295, 17636114, 17823772, 18346985, 18664331, 18758683, 19498446, 19766903, 20042013, 20079163, 21671119, 21814221, 22187380, 22209866, 22210575, 22466262, 22704848, 23764562, 24065655, 24380477, 24442125, 24558454, 25368101, 25955821, 26246406, 28587604, 28794851, 29751826, 30068891, 30147301, 8549873, 8635661, 8786023, 9032109, 9059762, 9075812, 9519757, 9568693, 9796882, 9799081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	11938023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	22209866, 9568693		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29358691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	UNIPROT_DG	16613899, 16885549, 17213273, 17668386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	17213273, 17317760, 17488343, 17668386, 17919176, 18279778, 18662362, 19351728, 21054355, 21823539, 22060631, 22306677, 22672870, 22768668, 22859427, 23050777, 27849623, 29844136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	ORPHANET_DG	21844708, 22498247, 24843665		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	DIABETES MELLITUS, WITH NEUROLOGIC FEATURES	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	18025464		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Transient Neonatal, 1	Diabetes Mellitus	BEFREE	15718250, 17446535, 17919176, 18497752, 25755231		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Transient Neonatal, 1	Diabetes Mellitus	ORPHANET_DG	21738553, 21844708, 22498247		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)	Diabetes Mellitus	UNIPROT_DG	16885549		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)	Diabetes Mellitus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)	Diabetes Mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	18025464		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	24941889		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	28173619, 28511139, 31390154		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	28173619, 28511139, 31390154	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36314849	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	24357461, 24558454		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	22210575	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	35294086	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36890748	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	23965746, 27677908	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	27246810	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	30079884		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	19139106	Associate	★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	30868916		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	BEFREE	17539904		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30079884		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30079884		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32728190	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	22326206		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	24558454		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	22179738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	BEFREE	29656212		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	23280795, 33430695	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	23261959		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10819247, 17207885, 17389331, 18346985, 21214702, 25720052, 30734462, 9799081		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	18346985, 25720052	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	23985558	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	10323384, 20042013, 20573158, 21199866, 21536946, 21716120, 21978130, 22231386, 22308858, 23273570, 23563683, 24285683, 25117148, 25518065, 25915078, 27173951, 27898257, 28328534, 28985184, 30086874, 31479591		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 1	Hyperinsulinemic hypoglycemia	CLINVAR_DG	10202168, 10400694, 10447255, 10615958, 10993895, 11226335, 11272143, 11395395, 11999683, 12199344, 14593442, 14692646, 14715863, 14764815, 15562009, 15579781, 15807877, 16186397, 16357843, 16429405, 16860127, 16969006, 17378627, 17384337, 17466004, 17575084, 17668386, 17919176, 18339976, 18596924, 18767144, 18988933, 19151370, 19475716, 20432820, 20685672, 20943781, 21321069, 21716120, 21851374, 21968111, 21992908, 22855730, 23067144, 23275527, 23345197, 23652837, 23744072, 23771172, 23798684, 24145932, 24401662, 24616771, 24645945, 24686051, 25008049, 25117148, 25201519, 25518065, 25525159, 25584046, 25639667, 25720052, 25765446, 25781672, 25931474, 26180531, 26246406, 26268944, 26545876, 26740944, 27573238, 27682711, 27691052, 27810688, 27889714, 27908292, 28442472, 30352420, 7716548, 8923011, 9618169, 9648840, 9769320		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic hypoglycemia, familial, 1	Hyperinsulinemic hypoglycemia	UNIPROT_DG	10202168, 10334322, 10615958, 11018078, 11226335, 11867634, 12364426, 12941782, 15562009, 15579781, 15807877, 16357843, 16429405, 24814349, 25720052, 8650576, 8751851, 8923011, 9618169, 9648840, 9769320		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic hypoglycemia, familial, 1	Hyperinsulinemic hypoglycemia	CTD_human_DG	10334322, 15579781		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic hypoglycemia, familial, 1	Hyperinsulinemic hypoglycemia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic hypoglycemia, familial, 2	Hyperinsulinemic hypoglycemia	CLINVAR_DG	10202168, 10204114, 1021286, 10338089, 10685980, 10720932, 11867634, 14692646, 14715863, 14764815, 15562009, 15579781, 16357843, 16416420, 16429405, 17236890, 17378627, 17466004, 17575084, 17668386, 18073294, 18339976, 18767144, 18988933, 19475716, 20685672, 20799350, 20943779, 20943781, 21378087, 21411514, 21422196, 22802590, 22855730, 23067144, 23275527, 23345197, 23652837, 24401662, 24750227, 25117148, 25201519, 25323548, 27682711, 9618169, 9648840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia, familial, 2	Hyperinsulinemic hypoglycemia	CTD_human_DG	10334322, 15579781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia, familial, 6	Hyperinsulinemic hypoglycemia	BEFREE	10931418		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	10193261, 10931418, 10973248, 11030411, 11272143, 11723059, 12210338, 12400064, 12559865, 12941782, 14715863, 15579781, 15868462, 16416420, 16429405, 16969006, 17378627, 17919182, 18390792, 18767144, 18796520, 18998097, 19151370, 19787700, 20049716, 21536946, 21617188, 22796691, 24080777, 25143473, 25720052, 28346775, 29493090, 9356020, 9769320, 9799081		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	Pubtator	10193261, 11272143, 18390792, 20049716, 21536946, 22796691, 23273570, 25555642, 25720052, 29739729, 31464105, 33762279, 35294086, 35674212, 38212772, 9769320	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	LHGDN	15562009		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	27845954, 30484364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrichosis	HYPERTRICHOSIS	BEFREE	28985184		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	11772909, 11938023, 15356046, 20042013, 25117148, 25720052, 29589989, 31464105, 9648840		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypoglycemia	Hypoglycemia	LHGDN	12199344, 18339976		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypoglycemia	Hypoglycemia	Pubtator	25720052, 29739729, 31464105, 31479591, 37895301	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypoglycemia	Hypoglycemia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypoglycemia	Hypoglycemia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypoglycemia, leucine-induced	Hypoglycemia	UNIPROT_DG	15356046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia, leucine-induced	Hypoglycemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia, leucine-induced	Hypoglycemia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia, leucine-induced	Hypoglycemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemic coma	Hypoglycemic coma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemic seizures	Hypoglycemic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	15141159	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30354297, 31406341		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24114458, 30180864		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	11018078, 18346985, 25720052	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10931418, 15613469		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38212772	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Hypertension	Intracranial hypertension	Pubtator	30484364, 33430695	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	17446049		★☆☆☆☆ Found in Text Mining only
Kabuki syndrome	Kabuki syndrome	Pubtator	36890748	Associate	★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	23299480		★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	24941889		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	24558454		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	36408280	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	40334645	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11526243, 12515727		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11526243, 26817437		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	24024896, 27001120		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	24080777		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	26223295		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	11526243		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	21544516	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11591886, 18310281, 26681085		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20718756		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31341030		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	ORPHANET_DG	21989597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	27103109, 29439679, 30734462, 31638168		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	BEFREE	30079884		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21037556		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30180864		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	15868462		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25867398	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25867398	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25867398		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MODY	Mason type diabetes	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Monogenic Diabetes	BEFREE	29454299, 30734462		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moyamoya Disease	Moyamoya disease	Pubtator	39367156	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	16979015		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28865458		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27942589		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32576189	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	19577714		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	24286299		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	23965746	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	15962003, 16613899, 16885549, 17389331, 17584766, 17942821, 18025464, 18281290, 18990670, 18998097, 19021632, 19065048, 19151370, 19342262, 19351728, 20022885, 20049716, 20092027, 20810569, 20922570, 21049026, 21463240, 21540348, 21617188, 21989597, 22020219, 22210575, 22306677, 22308870, 22326206, 22562119, 22701567, 22831748, 23783767, 24468609, 24941889, 25755231, 26208381, 27849623, 27956473, 28511139, 28663158, 28791793, 29486427, 30068891, 30861254, 30915639		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal diabetes mellitus	Diabetes Mellitus	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10895035, 18310281, 21037556, 31341030		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28412320, 29674479, 30484364		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26606244, 31341030		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22056417, 24558454		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22056417	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	14500356		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29951492		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31538150		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Permanent neonatal diabetes mellitus	Diabetes Mellitus	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	22466262	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	22466262		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	11526243		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	27849448		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	31095341		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30354297		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	30354297, 32934261, 34199176, 39367156	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	26025129, 27464597		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15846842, 30254017, 31805992		★☆☆☆☆ Found in Text Mining only
Secondary growth hormone deficiency	Growth Hormone Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	39227362	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	17767165, 19762566, 23133376		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	20299626		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	15846842		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	16682612		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28412320		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31852133	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	33430695, 37777789	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	24114458, 30079884, 31707576		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	29196802		★☆☆☆☆ Found in Text Mining only
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	BEFREE	25143473		★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	25143473		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	17919176, 17923772, 18497752, 21953423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient neonatal diabetes mellitus	Diabetes Mellitus	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome type 1C	Usher syndrome	Pubtator	9445488	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1C	Usher Syndrome	BEFREE	10973248		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37443304	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	34199176	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	15598812		★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	14500356		★☆☆☆☆ Found in Text Mining only
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	32576189	Associate	★☆☆☆☆ Found in Text Mining only
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	BEFREE	25306193		★☆☆☆☆ Found in Text Mining only