GABRG2 (gamma-aminobutyric acid type A receptor subunit gamma2)

Gene

• Entrez ID: 2566
• Gene name: Gamma-aminobutyric acid type A receptor subunit gamma2
• Gene symbol: GABRG2
• Synonyms (NCBI Gene): CAE2, DEE74, ECA2, EIEE74, FEB8, GEFSP3
• Chromosome: 5
• Chromosome location: 5q34
• Summary: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115126975	T>C	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121909672	A>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121909673	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs121909674	C>T	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs150727562	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, synonymous variant
rs267606837	C>G	Pathogenic	Missense variant, coding sequence variant
rs397514737	G>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs398123523	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs587780948	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs750459631	T>G	Pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant
rs781498456	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs796052503	C>G	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs796052504	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs796052505	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs796052507	G>A	Pathogenic	Intron variant, splice acceptor variant
rs796052508	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs796052509	T>G	Pathogenic	Coding sequence variant, missense variant
rs796052511	C>A,G	Likely-pathogenic, uncertain-significance, not-provided	Coding sequence variant, intron variant, missense variant
rs796052515	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs796052518	T>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs868452487	A>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs878854144	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1045493304	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057520476	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057520498	C>T	Likely-pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs1060501888	G>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1060501889	G>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1064794724	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant
rs1469287853	G>C,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1554097873	->T	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554097890	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554098222	CTGTT>-	Pathogenic	Coding sequence variant, stop gained
rs1554098226	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554098235	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554100509	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554100923	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1554101185	A>G	Likely-pathogenic	Splice acceptor variant
rs1554101202	AA>-	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1561645243	T>G	Pathogenic	Splice donor variant
rs1561662283	G>T	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs1581351046	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1581453822	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619554	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT619553	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT619552	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT619551	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT619550	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT619549	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619548	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619547	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT619546	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT619545	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619544	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619543	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619542	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT628200	hsa-miR-374a-5p	HITS-CLIP	23824327
MIRT628199	hsa-miR-374b-5p	HITS-CLIP	23824327
MIRT619562	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT619561	hsa-miR-1470	HITS-CLIP	23824327
MIRT619560	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT619559	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619558	hsa-miR-4469	HITS-CLIP	23824327
MIRT619557	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT619556	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT619555	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT619554	hsa-miR-4639-3p	HITS-CLIP	23824327
MIRT619553	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT619552	hsa-miR-6731-3p	HITS-CLIP	23824327
MIRT619551	hsa-miR-26a-1-3p	HITS-CLIP	23824327
MIRT619550	hsa-miR-26a-2-3p	HITS-CLIP	23824327
MIRT619549	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619548	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619547	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT619546	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT619545	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT619544	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT619543	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619542	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT1010108	hsa-miR-1265	CLIP-seq
MIRT1010109	hsa-miR-1323	CLIP-seq
MIRT1010110	hsa-miR-136	CLIP-seq
MIRT1010111	hsa-miR-142-3p	CLIP-seq
MIRT1010112	hsa-miR-2392	CLIP-seq
MIRT1010113	hsa-miR-3647-3p	CLIP-seq
MIRT1010114	hsa-miR-3657	CLIP-seq
MIRT1010115	hsa-miR-3682-3p	CLIP-seq
MIRT1010116	hsa-miR-376c	CLIP-seq
MIRT1010117	hsa-miR-380	CLIP-seq
MIRT1010118	hsa-miR-3942-3p	CLIP-seq
MIRT1010119	hsa-miR-548o	CLIP-seq
MIRT1010120	hsa-miR-606	CLIP-seq
MIRT1010121	hsa-miR-885-5p	CLIP-seq
MIRT1010111	hsa-miR-142-3p	CLIP-seq
MIRT1010114	hsa-miR-3657	CLIP-seq
MIRT1010122	hsa-miR-425	CLIP-seq
MIRT1010123	hsa-miR-4661-5p	CLIP-seq
MIRT1010121	hsa-miR-885-5p	CLIP-seq
MIRT1010124	hsa-miR-944	CLIP-seq
MIRT1999190	hsa-miR-1179	CLIP-seq
MIRT1999191	hsa-miR-127-5p	CLIP-seq
MIRT1999192	hsa-miR-1294	CLIP-seq
MIRT1999193	hsa-miR-3607-5p	CLIP-seq
MIRT1999194	hsa-miR-3616-3p	CLIP-seq
MIRT1999195	hsa-miR-4316	CLIP-seq
MIRT1999196	hsa-miR-4635	CLIP-seq
MIRT1999197	hsa-miR-4721	CLIP-seq
MIRT1999198	hsa-miR-4461	CLIP-seq
MIRT1999190	hsa-miR-1179	CLIP-seq
MIRT2232874	hsa-miR-1243	CLIP-seq
MIRT2232875	hsa-miR-1245b-3p	CLIP-seq
MIRT1999191	hsa-miR-127-5p	CLIP-seq
MIRT2232876	hsa-miR-3125	CLIP-seq
MIRT2232877	hsa-miR-3654	CLIP-seq
MIRT1010116	hsa-miR-376c	CLIP-seq
MIRT2232878	hsa-miR-3916	CLIP-seq
MIRT1010122	hsa-miR-425	CLIP-seq
MIRT2232879	hsa-miR-4528	CLIP-seq
MIRT1999196	hsa-miR-4635	CLIP-seq
MIRT2232880	hsa-miR-498	CLIP-seq
MIRT2232881	hsa-miR-656	CLIP-seq
MIRT2232882	hsa-miR-877	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	IDA	14993607, 30602789
GO:0004890	Function	GABA-A receptor activity	IEA
GO:0004890	Function	GABA-A receptor activity	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	ISS
GO:0005515	Function	Protein binding	IPI	9892355, 27733149, 28978485
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	2538761
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IBA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IDA	29950725, 30602789
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	IEA
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	ISS
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	NAS	34417930
GO:0007214	Process	Gamma-aminobutyric acid signaling pathway	TAS	2538761
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0008503	Function	Benzodiazepine receptor activity	IBA
GO:0008503	Function	Benzodiazepine receptor activity	TAS	2538761
GO:0009791	Process	Post-embryonic development	IEA
GO:0016020	Component	Membrane	IEA
GO:0022851	Function	GABA-gated chloride ion channel activity	IBA
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	23909897
GO:0022851	Function	GABA-gated chloride ion channel activity	IDA	2538761, 30602789
GO:0022851	Function	GABA-gated chloride ion channel activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032590	Component	Dendrite membrane	IBA
GO:0032590	Component	Dendrite membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IDA	25025157
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IDA	2538761
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IBA
GO:0051932	Process	Synaptic transmission, GABAergic	IDA	14993607
GO:0051932	Process	Synaptic transmission, GABAergic	ISS
GO:0051932	Process	Synaptic transmission, GABAergic	NAS	29950725, 30602789
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0071420	Process	Cellular response to histamine	IEA
GO:0071420	Process	Cellular response to histamine	ISS
GO:0098794	Component	Postsynapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	ISS
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	29950725, 30602789
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	ISS
GO:1902711	Component	GABA-A receptor complex	IBA
GO:1902711	Component	GABA-A receptor complex	IEA
GO:1902711	Component	GABA-A receptor complex	IPI	29950725, 30602789
GO:1902711	Component	GABA-A receptor complex	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1904862	Process	Inhibitory synapse assembly	IBA
GO:1904862	Process	Inhibitory synapse assembly	IDA	23909897, 25489750
GO:1904862	Process	Inhibitory synapse assembly	IEA

Other IDs

• MIM: 137164
• HGNC: 4087
• e!Ensembl: ENSG00000113327

Protein

• UniProt ID: P18507
• Protein name: Gamma-aminobutyric acid receptor subunit gamma-2 (GABA(A) receptor subunit gamma-2) (GABAAR subunit gamma-2)
• Protein function: Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:16412217, PubMed:23909897, PubMed:2538761, PubMed:25489750, Pu
• PDB: 6D6T, 6D6U, 6HUG, 6HUJ, 6HUK, 6HUO, 6HUP, 6I53, 6X3S, 6X3T, 6X3U, 6X3V, 6X3W, 6X3X, 6X3Z, 6X40, 7QNB, 7QNE, 7T0W, 7T0Z, 8DD2, 8DD3, 8SGO, 8SI9, 8SID, 8VQY, 8VRN, 9CRS, 9CRV, 9CSB, 9CT0, 9CTJ, 9CTP, 9CTV, 9CX7, 9CXA, 9CXB, 9CXC, 9CXD, 9DRX, 9EQG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02931	Neur_chan_LBD	66 → 272	Neurotransmitter-gated ion-channel ligand binding domain	Family
  PF02932	Neur_chan_memb	279 → 423	Neurotransmitter-gated ion-channel transmembrane region	Family

• Sequence:

  MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDDDYEDYASNKTWVLTPK
  VPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIGPVNAINMEYTIDIFFAQT
  WYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADAHWITTPNRMLRIWNDGRVLY
  TLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEIVYQWKRSSVEVGDTRSWRLYQF
  SFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFTIQTYIPCTLIVVLSWVSFWINKDA
  VPARTSLGITTVLTMTTLSTIARKSLPKVSYVTAMDLFVSVCFIFVFSALVEYGTLHYFV
  SNRKPSKDKDKKKKNPAPTIDIRPRSATIQMNNATHLQERDEEYGYECLDGKDCASFFCC
  FEDCRTGAWRHGRIHIRIAKMDSYARIFFPTAFCLFNLVYWVSYLYL

• Sequence length: 467

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Retrograde endocannabinoid signaling
GABAergic synapse
Morphine addiction
Nicotine addiction

Reactome:

GABA receptor activation

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
Autosomal dominant nocturnal frontal lobe epilepsy	Likely pathogenic; Pathogenic	rs1765173859, rs1057520498	RCV001824554 RCV001824312	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 74	Likely pathogenic; Pathogenic	rs1761617556, rs2532592745, rs2113298764, rs1761398393, rs796052505, rs796052508, rs796052510, rs2113598938, rs1057520498, rs1060501888, rs397514737, rs267606837	RCV001775345 RCV002289356 RCV005242251 RCV002466329 RCV000767869 RCV000767870 RCV003491934 RCV003388247 RCV005243225 RCV002272242 RCV001268930 RCV003142129	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2	Likely pathogenic; Pathogenic	rs1764624249, rs1760808499, rs2113298764, rs2113298770, rs2113370272, rs2113371247, rs2113326012, rs2113650735, rs1285618109, rs2113326854, rs2113309064, rs2113632484, rs2113599162, rs2113599212, rs2113632555, rs2532568719, rs796052518, rs796052505, rs796052504, rs796052508, rs796052510, rs1554101224, rs2113324886, rs2532568752, rs2532726254, rs564464466, rs2532568679, rs2532559907, rs2532592628, rs878854144, rs2532569089, rs2532775753, rs2532775906, rs1561645243, rs2532569554, rs1761398209, rs2532774720, rs2532559746, rs1760801995, rs121909673, rs111782778, rs2532553590, rs2532592325, rs2532774645, rs2532757119, rs749951528, rs2532725944, rs2532581601, rs1057520498, rs1060501889, rs1060501888, rs1554098235, rs1554097890, rs1554101202, rs1469287853, rs1554097873, rs1554098222, rs1045493304, rs1581351046, rs1581453572, rs1581453822, rs397514737, rs1390117240, rs146470870, rs1758361435, rs1758364128, rs549251133, rs1765186475, rs267606837, rs1334776746, rs1765175867, rs1761620237, rs1415043929	RCV001316148 RCV001346520 RCV001378060 RCV001378946 RCV001378001 RCV001377237 RCV001383477 RCV001389489 RCV001386557 RCV001999355 RCV002011654 RCV002013769 RCV002005740 RCV001953563 RCV002047455 RCV002026879 RCV002021504 RCV002638736 RCV005222815 RCV000547790 RCV001041149 RCV001249644 RCV000196679 RCV002007291 RCV002814569 RCV002801201 RCV002862252 RCV002843380 RCV002871716 RCV003016748 RCV003027838 RCV000227482 RCV003779867 RCV003781040 RCV003787803 RCV003807909 RCV003808215 RCV003806512 RCV003801566 RCV003804329 RCV003801336 RCV003794979 RCV003795216 RCV003809119 RCV003802277 RCV003813557 RCV003809388 RCV003801727 RCV003807442 RCV003810592 RCV000017592 RCV000017595 RCV000688627 RCV000462535 RCV000467084 RCV001379155 RCV001857985 RCV001858007 RCV000539557 RCV001854122 RCV000645382 RCV001855929 RCV000806748 RCV000817495 RCV000808359 RCV001057395 RCV001858879 RCV003101833 RCV001060789 RCV001040578 RCV001215572 RCV001217542 RCV001215295 RCV001203209 RCV001203057 RCV001205046 RCV001226027 RCV001236679	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Febrile seizures, familial, 8	Likely pathogenic; Pathogenic	rs1764624249, rs1760808499, rs2113298764, rs2113298770, rs2113370272, rs2113371247, rs2113326012, rs2113650735, rs1285618109, rs2113326854, rs2113309064, rs2113632484, rs2113599162, rs2113599212, rs2113632555, rs2113298784, rs2532553492, rs2532568719, rs796052518, rs796052505, rs796052504, rs796052508, rs796052510, rs1554101224, rs2113324886, rs2532568752, rs2532726254, rs564464466, rs2532568679, rs2532559907, rs2532592628, rs878854144, rs2532569089, rs2532582067, rs2532775753, rs2532775906, rs1561645243, rs2532569554, rs1761398209, rs2532774720, rs2532559746, rs1760801995, rs121909673, rs111782778, rs2532553590, rs2532592325, rs2532774645, rs2532757119, rs749951528, rs2532725944, rs2532581601, rs121909672, rs121909674, rs267606837, rs1057520498, rs1060501889, rs1060501888, rs1554098235, rs1554097890, rs1554101202, rs1469287853, rs1554098226, rs1554097873, rs1554098222, rs1045493304, rs1581351046, rs1581453572, rs1581453822, rs397514737, rs1390117240, rs146470870, rs1758361435, rs1758364128, rs549251133, rs1765186475, rs1334776746, rs1765175867, rs1761620237, rs1415043929	RCV001316148 RCV001346520 RCV001378060 RCV001378946 RCV001378001 RCV001377237 RCV001383477 RCV001389489 RCV001386557 RCV001999355 RCV002011654 RCV002013769 RCV002005740 RCV001953563 RCV002047455 RCV002026879 RCV002021504 RCV002246159 RCV002250004 RCV005242251 RCV005861293 RCV002638736 RCV005222815 RCV000547790 RCV001041149 RCV001390804 RCV000196679 RCV002007291 RCV002814569 RCV002801201 RCV002862252 RCV002843380 RCV002871716 RCV003016748 RCV003027838 RCV000227482 RCV003779867 RCV003388858 RCV003781040 RCV003787803 RCV003807909 RCV003808215 RCV003806512 RCV003801566 RCV003804329 RCV003801336 RCV003794979 RCV003795216 RCV003809119 RCV003802277 RCV003813557 RCV003809388 RCV003801727 RCV003807442 RCV003810592 RCV000017591 RCV000017593 RCV000017594 RCV000017596 RCV000017597 RCV000688627 RCV000462535 RCV000467084 RCV001379155 RCV001857985 RCV001858007 RCV000539557 RCV000585838 RCV001854122 RCV000645382 RCV001855929 RCV000806748 RCV000817495 RCV000808359 RCV001057395 RCV001858879 RCV003101833 RCV001060789 RCV001040578 RCV001215572 RCV001217542 RCV001215295 RCV001203209 RCV001203057 RCV001205046 RCV001226027 RCV001236679	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GABRG2-related disorder	Likely pathogenic	rs1285618109, rs796052511	RCV004540876 RCV000509275	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy with febrile seizures plus 3	Likely pathogenic; Pathogenic	rs2113298764, rs1057520498, rs397514737	RCV005242251 RCV005243225 RCV000054505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs796052510, rs543339576	RCV001260612 RCV001260613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lennox-Gastaut syndrome	Pathogenic	rs796052504	RCV000844886	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs1554098235	RCV005899817	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1764624249, rs1554097873, rs1045493304	RCV005624480 RCV004546529 RCV006261986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Self-limited epilepsy with centrotemporal spikes	Likely pathogenic; Pathogenic	rs1554098235, rs397514737	RCV000655994 RCV000655995	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sudden unexplained death in childhood	Likely pathogenic	rs2113309482	RCV001787422	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ABSENCE EPILEPSY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRAVET SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar ClinGen, ClinVar, Disgenet ClinGen, ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal atresia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FEBRILE CONVULSIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEBRILE CONVULSIONS, FAMILIAL, 8	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized epilepsy with febrile seizures plus	Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATIC ENCEPHALOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyloric stenosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, FEBRILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe myoclonic epilepsy in infancy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	32400971	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	19842164, 31087664		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	19842164, 31087664		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	38176934	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	BEFREE	15955415		★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31004928, 35773312	Associate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25124326	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	26239769		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	ORPHANET_DG	25726841		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27762395, 27864268, 31004928	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	38176934	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32056912	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	28460589	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	32056912	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	26892569	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33004838	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30404071		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	32056912	Associate	★☆☆☆☆ Found in Text Mining only
Dravet syndrome	Dravet Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	LHGDN	17880575		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	27864268		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	12773292, 23069679, 27762395, 28460589, 36979350	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	31327507	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINGEN_DG	11326274, 12117362, 23408872, 27066572, 27340224, 27864268, 28460589, 31004928		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	BEFREE	11579435, 12083760, 12117362, 15955415, 16806831, 16884893, 19261880, 20356767, 20485450, 22750526, 23140995, 23720301, 24061200, 24407264, 24480790, 25362483, 26005849, 26452361, 27340224, 27367160, 27762395, 27864268, 28460589, 29379546, 29894917, 29929832, 30664068, 31004928, 31087664		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	Pubtator	14738422, 23257655, 27622563, 27762395, 28460589, 28837158, 29894917, 31004928, 31327507, 35022648, 36425336, 36979350, 40570274, 40665309	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy Absence	Absence epilepsy	Pubtator	21930603, 27762395, 29929832	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	12773292, 31327507, 35032048	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	14738422, 29894917, 34080406, 36425336	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, CHILDHOOD ABSENCE, 1	Epilepsy	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2	Epilepsy	GENOMICS_ENGLAND_DG	11326274, 15342642, 23708187, 28460589		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2	Epilepsy	UNIPROT_DG	11326275		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2	Epilepsy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, Generalized	Epilepsy	LHGDN	11748509, 17162195, 18566737, 19065515		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	16806831, 16924025, 18175077, 21908847, 21983990, 23069679, 26060908, 27367160, 28505490, 29379546		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	BEFREE	25726841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	ORPHANET_DG	25726841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	27131289, 27762395, 31022638		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	36571524, 40570274	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	12773292, 19783390, 20308251, 20485450, 21463283, 22750526, 23069679, 24480790, 27131289, 27367160, 27762395, 28505490		★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 1	Episodic ataxia	BEFREE	11579435		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	40233852	Associate	★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	LHGDN	11748509, 12672902, 18566737, 19065515		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	BEFREE	12117362, 12672902, 12759178, 16256272, 16924025, 20308251, 21983990, 22239287, 23140995, 24061200, 24668705, 25362483, 26452361, 27871023, 28505490, 29379546, 31582559		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	CTD_human_DG	25362483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal Clonic Seizures	Focal Clonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fulminant Hepatic Failure with Cerebral Edema	Fulminant Hepatic Failure With Cerebral Edema	CTD_human_DG	15929193		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	BEFREE	11888238, 12759178, 14738422, 17927801, 18566737, 19261880, 22011963, 24407264		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	ORPHANET_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	12060016, 14738422, 15827091, 23069679, 36979350	Associate	★☆☆☆☆ Found in Text Mining only
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3	Generalized Epilepsy with Febrile Seizures Plus	GENOMICS_ENGLAND_DG	11326274, 15342642, 23708187, 28460589		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3	Generalized Epilepsy with Febrile Seizures Plus	UNIPROT_DG	11326274, 16924025, 23708187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized epilepsy with febrile seizures-plus	Epilepsy With Febrile Seizures Plus	Orphanet			★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	22239287		★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32647207	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemifacial seizures	Hemifacial seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatic Coma	Hepatic Coma	CTD_human_DG	15929193		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	CTD_human_DG	15929193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	24482035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Stupor	Hepatic Stupor	CTD_human_DG	15929193		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	27889765		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	27889765	Associate	★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	29062354	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	24482035		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic generalized epilepsy	Epilepsy	BEFREE	17162195, 21714819, 23140995, 29379546		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	ORPHANET_DG	11748509, 21463275, 23093055		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12083760, 12694927, 12773292, 19783390, 20308251, 20485450, 21463283, 22750526, 23069679, 24480790, 27131289, 27367160, 27762395, 28505490		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28460589	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Juvenile Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	16302872, 16302874, 23287319, 24061200, 29785705		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	28460589	Associate	★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	19428381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	22572707		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	28460589	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29422393		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	35773312	Associate	★☆☆☆☆ Found in Text Mining only
MYOCLONIC-ATONIC EPILEPSY	Myoclonic-Atonic Epilepsy	BEFREE	14642997		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25124326	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28837158, 31004928	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28837158		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	19219857		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	20098824		★☆☆☆☆ Found in Text Mining only
Obtundation status	Obtundation status	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	40420762	Associate	★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	30546007		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	19219857		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Punding	Punding	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	31344879	Associate	★☆☆☆☆ Found in Text Mining only
Rolandic epilepsy	Rolandic Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28030426		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	15772696, 15993854, 19682861, 24776921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	15993854, 17167345, 19682861, 24776921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure, Febrile, Complex	Seizure	CTD_human_DG	25362483		★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Simple	Seizure	BEFREE	21983990		★☆☆☆☆ Found in Text Mining only
Seizure, Febrile, Simple	Seizure	CTD_human_DG	25362483		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	20356767, 23257655, 27762395, 28460589, 29929832, 31004928	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	12086636, 12773292, 19054398, 21930603, 24668705, 28460589, 31004928, 35022648, 36979350, 40570274	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	30546007		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	20485450, 27762395, 29929832		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12694927		★☆☆☆☆ Found in Text Mining only