DEPDC5 (DEP domain containing 5, GATOR1 subcomplex subunit)

Gene

• Entrez ID: 9681
• Gene name: DEP domain containing 5, GATOR1 subcomplex subunit
• Gene symbol: DEPDC5
• Synonyms (NCBI Gene): DEE111, DEP.5, FFEVF, FFEVF1, FPEVF
• Chromosome: 22
• Chromosome location: 22q12.2-q12.3
• Summary: This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs16989535	C>T	Benign, pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs142540948	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs181347577	C>T	Likely-benign, benign, benign-likely-benign, pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs187334123	G>A,T	Uncertain-significance, benign-likely-benign, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs201202102	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs201312113	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs202083639	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs370940232	A>C	Pathogenic, uncertain-significance	Non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, missense variant, intron variant, coding sequence variant
rs371377906	C>T	Pathogenic, likely-benign	Genic downstream transcript variant, intron variant
rs374158137	T>A,C	Pathogenic	Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, synonymous variant, stop gained, coding sequence variant
rs541024038	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs578185749	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs587776973	C>G,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs587776974	GTT>-	Pathogenic	Inframe deletion, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs587776975	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, stop gained
rs587776976	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs587776977	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs587777458	C>G,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, missense variant
rs587777459	C>G,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs757511744	C>G,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs759952667	C>A,T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained, missense variant
rs766360619	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs768241563	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs768456731	G>A,T	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs772872014	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs780960812	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs786205703	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs797044545	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs797044546	C>T	Pathogenic	Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs879255234	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039243	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886039244	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039245	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886039246	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886039247	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039248	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039249	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886039250	TCGTT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039251	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039252	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs886039253	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039254	TGAG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039255	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039256	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039257	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039258	->GATTTGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs886039259	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039260	C>G,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs886039261	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs886039262	CTGCATG>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs886039263	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs886039264	A>-	Pathogenic	Non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039265	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs886039266	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs886039267	G>A	Pathogenic	Downstream transcript variant, intron variant, genic downstream transcript variant
rs886039268	C>T	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886039269	C>T	Pathogenic	Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886039270	A>G	Pathogenic	Intron variant, genic downstream transcript variant
rs886039271	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs886039272	G>-	Pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039273	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs886039274	C>T	Pathogenic	Non coding transcript variant, synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs886039280	A>G	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1057519107	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1057524233	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1060501487	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, genic upstream transcript variant
rs1060501488	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs1064794917	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1085307452	GG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1261611694	G>A,C	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1315483224	C>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, stop gained
rs1372605067	CT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant
rs1383795440	G>C	Pathogenic	5 prime UTR variant, non coding transcript variant, genic upstream transcript variant
rs1475605360	->A	Not-provided, likely-pathogenic	Genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555882867	G>C	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1555882921	AT>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1555885023	G>T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1555897392	->AGA	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant
rs1555900914	ACTGCGACATCTATGGGGACAGGCCC>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555914806	->TC	Likely-pathogenic	Intron variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1555942720	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1556526609	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice acceptor variant
rs1556607762	G>T	Likely-pathogenic	Genic upstream transcript variant, intron variant, splice donor variant
rs1556608580	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1568955379	C>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568963062	CAGG>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568991466	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1569012755	->A	Pathogenic	Genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569067939	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant
rs1569083500	CTCAGAGTTC>GGACA	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569166925	G>-	Pathogenic	Intron variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569186093	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs1569232705	C>G	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1569254004	->CA	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1569512941	C>T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1569523728	GA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601599644	A>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601755632	->CTGG	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601875057	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1601925213	GAAGA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601935630	AT>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601969933	AG>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601970168	G>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601970824	T>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1602010382	C>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1602349641	G>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs1602903591	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1603014297	->T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs1603014708	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017533	hsa-miR-335-5p	Microarray	18185580
MIRT043372	hsa-miR-331-3p	CLASH	23622248
MIRT932980	hsa-miR-1207-3p	CLIP-seq
MIRT932981	hsa-miR-216a	CLIP-seq
MIRT932982	hsa-miR-216b	CLIP-seq
MIRT932983	hsa-miR-3065-3p	CLIP-seq
MIRT932984	hsa-miR-3612	CLIP-seq
MIRT932985	hsa-miR-3622b-5p	CLIP-seq
MIRT932986	hsa-miR-4433	CLIP-seq
MIRT932987	hsa-miR-4443	CLIP-seq
MIRT932988	hsa-miR-4455	CLIP-seq
MIRT932989	hsa-miR-609	CLIP-seq
MIRT932990	hsa-miR-650	CLIP-seq
MIRT932991	hsa-miR-661	CLIP-seq
MIRT932992	hsa-miR-665	CLIP-seq
MIRT932993	hsa-miR-190	CLIP-seq
MIRT932994	hsa-miR-190b	CLIP-seq
MIRT932995	hsa-miR-3977	CLIP-seq
MIRT932996	hsa-miR-4693-3p	CLIP-seq
MIRT932997	hsa-miR-4710	CLIP-seq
MIRT932998	hsa-miR-4762-3p	CLIP-seq
MIRT932999	hsa-miR-4792	CLIP-seq
MIRT933000	hsa-miR-552	CLIP-seq
MIRT933001	hsa-miR-582-5p	CLIP-seq
MIRT933002	hsa-miR-15a	CLIP-seq
MIRT933003	hsa-miR-15b	CLIP-seq
MIRT933004	hsa-miR-16	CLIP-seq
MIRT933005	hsa-miR-195	CLIP-seq
MIRT933006	hsa-miR-2115	CLIP-seq
MIRT933007	hsa-miR-424	CLIP-seq
MIRT933008	hsa-miR-497	CLIP-seq
MIRT933009	hsa-miR-516a-3p	CLIP-seq
MIRT933010	hsa-miR-646	CLIP-seq
MIRT933011	hsa-miR-885-3p	CLIP-seq
MIRT2211650	hsa-miR-1224-3p	CLIP-seq
MIRT2211651	hsa-miR-1260	CLIP-seq
MIRT2211652	hsa-miR-1260b	CLIP-seq
MIRT2211653	hsa-miR-1280	CLIP-seq
MIRT933002	hsa-miR-15a	CLIP-seq
MIRT933003	hsa-miR-15b	CLIP-seq
MIRT933004	hsa-miR-16	CLIP-seq
MIRT933005	hsa-miR-195	CLIP-seq
MIRT2211654	hsa-miR-3194-3p	CLIP-seq
MIRT2211655	hsa-miR-3663-3p	CLIP-seq
MIRT2211656	hsa-miR-3921	CLIP-seq
MIRT933007	hsa-miR-424	CLIP-seq
MIRT2211657	hsa-miR-4303	CLIP-seq
MIRT2211658	hsa-miR-4653-5p	CLIP-seq
MIRT933008	hsa-miR-497	CLIP-seq
MIRT2211659	hsa-miR-532-3p	CLIP-seq
MIRT933002	hsa-miR-15a	CLIP-seq
MIRT933003	hsa-miR-15b	CLIP-seq
MIRT933004	hsa-miR-16	CLIP-seq
MIRT933005	hsa-miR-195	CLIP-seq
MIRT933006	hsa-miR-2115	CLIP-seq
MIRT933007	hsa-miR-424	CLIP-seq
MIRT932986	hsa-miR-4433	CLIP-seq
MIRT933008	hsa-miR-497	CLIP-seq
MIRT933009	hsa-miR-516a-3p	CLIP-seq
MIRT933010	hsa-miR-646	CLIP-seq
MIRT933011	hsa-miR-885-3p	CLIP-seq
MIRT2679182	hsa-miR-1264	CLIP-seq
MIRT933002	hsa-miR-15a	CLIP-seq
MIRT933003	hsa-miR-15b	CLIP-seq
MIRT933004	hsa-miR-16	CLIP-seq
MIRT933005	hsa-miR-195	CLIP-seq
MIRT933006	hsa-miR-2115	CLIP-seq
MIRT2679183	hsa-miR-3655	CLIP-seq
MIRT2679184	hsa-miR-3677-3p	CLIP-seq
MIRT933007	hsa-miR-424	CLIP-seq
MIRT932986	hsa-miR-4433	CLIP-seq
MIRT2679185	hsa-miR-4440	CLIP-seq
MIRT2679186	hsa-miR-4659a-3p	CLIP-seq
MIRT2679187	hsa-miR-4659b-3p	CLIP-seq
MIRT2679188	hsa-miR-4777-5p	CLIP-seq
MIRT933008	hsa-miR-497	CLIP-seq
MIRT933009	hsa-miR-516a-3p	CLIP-seq
MIRT2679189	hsa-miR-518d-5p	CLIP-seq
MIRT2679190	hsa-miR-519b-5p	CLIP-seq
MIRT2679191	hsa-miR-519c-5p	CLIP-seq
MIRT2679192	hsa-miR-520c-5p	CLIP-seq
MIRT2679193	hsa-miR-526a	CLIP-seq
MIRT933010	hsa-miR-646	CLIP-seq
MIRT933011	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002181	Process	Cytoplasmic translation	IDA	8706699, 34314702
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IDA	23723238
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IBA
GO:0005765	Component	Lysosomal membrane	IDA	28199306
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	NAS	23723238
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0016020	Component	Membrane	IEA
GO:0031267	Function	Small GTPase binding	IDA	29590090, 35338845
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IDA	29769719
GO:0031669	Process	Cellular response to nutrient levels	IDA	29236692, 29750193, 31601708
GO:0034198	Process	Cellular response to amino acid starvation	IBA
GO:0034198	Process	Cellular response to amino acid starvation	IDA	29590090, 35338845
GO:0034198	Process	Cellular response to amino acid starvation	IMP	23723238
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038202	Process	TORC1 signaling	IDA	12087098, 29750193
GO:0044877	Function	Protein-containing complex binding	IDA	23723238
GO:0045947	Process	Negative regulation of translational initiation	IDA	22578813
GO:0045948	Process	Positive regulation of translational initiation	IDA	1922062, 29750193
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0061462	Process	Protein localization to lysosome	IDA	31601708
GO:1904262	Process	Negative regulation of TORC1 signaling	IBA
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	29590090, 35338845
GO:1904262	Process	Negative regulation of TORC1 signaling	IMP	25457612, 29769719
GO:1904262	Process	Negative regulation of TORC1 signaling	NAS	23723238
GO:1904263	Process	Positive regulation of TORC1 signaling	IDA	29236692, 31601708
GO:1990130	Component	GATOR1 complex	IBA
GO:1990130	Component	GATOR1 complex	IDA	29590090, 35338845
GO:1990130	Component	GATOR1 complex	IPI	25263562

Other IDs

• MIM: 614191
• HGNC: 18423
• e!Ensembl: ENSG00000100150

Protein

• UniProt ID: O75140
• Protein name: GATOR1 complex protein DEPDC5 (DEP domain-containing protein 5)
• Protein function: As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:25457612, PubMed:29590090, PubMed:29769719, PubMed:31548394, PubMed:35338845). In response to amino ac
• PDB: 6CES, 6CET, 7T3A, 7T3B, 7T3C, 8FW5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12257	IML1	100 → 382	Vacuolar membrane-associated protein Iml1	Family
  PF00610	DEP	1190 → 1260	Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in developing and adult brain. {ECO:0000269|PubMed:23542701}.
• Sequence:

  MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKE
  DLQKETISVDQTVTQVFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKS
  LVSTCAYITQKVEFAGIRAQAGELWVKNEKVMCGYISEDTRVVFRSTSAMVYIFIQMSCE
  MWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTFYDAKSVDEFPEINRA
  SIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNST
  SAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDN
  GIGVDLVCMGEQPLHAVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFT
  PRIKLAGKKPASEKAKNGRDTSLGSPKESENALPIQVDYDAYDAQVFRLPGPSRAQCLTT
  CRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSSLGKSANILMIPHPHL
  HQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINP
  FAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLE
  LAYHEAAGRHSNSRQPGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTS
  PDPILTLSAPPVVPGFCCTVGVDWKSLTTPACLPLTTDYFPDRQGLQNDYTEGCYDLLPE
  ADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPAVPPPLSSSPLYSRGL
  VSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSE
  FVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRIT
  EGEAHCDIYGDRPRADEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGP
  ISTHSLESTAPPVGKKGTSALSALLEMEASQKCLGEQQAAVHGGKSSAQSAESSSVAMTP
  TYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTSLGICTGQSMDRGNSQ
  TFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGL
  SPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKI
  VTDKEPDRVAMQQPATTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRP
  ASYASRHSSFSRSFGGRSQAAALLAATVPEQRTVTLDVDVNNRTDRLEWCSCYYHGNFSL
  NAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFALPSYLYGDPLRAQLF
  IPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKP
  QYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRS
  SATGDEKFADRLLKDFTDFCINRDNRLVTFWTSCLEKMHASAP

• Sequence length: 1603

Pathways

KEGG:

mTOR signaling pathway

Reactome:

Amino acids regulate mTORC1

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 epilepsy	Likely pathogenic; Pathogenic	rs2522513585, rs587776975	RCV003156206 RCV003156068	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nocturnal frontal lobe epilepsy	Likely pathogenic; Pathogenic	rs2149449670, rs2092986219	RCV002254361 RCV001095643	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DEPDC5-related disorder	Pathogenic; Likely pathogenic	rs541024038, rs2083056830, rs1475605360, rs587776977	RCV003407588 RCV003402223 RCV004545773 RCV004545741	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 111	Pathogenic	rs886039255	RCV005003057	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic; Likely pathogenic	rs2518913720, rs2518594940, rs2093486364	RCV004798967 RCV005626890 RCV001034606	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, familial focal, with variable foci 1	Pathogenic; Likely pathogenic	rs886039246, rs2148514247, rs2148801432, rs2148027312, rs2149449539, rs2148801285, rs1309166815, rs2148953712, rs587777458, rs587777459, rs1016477183, rs2148328679, rs2148633437, rs1400868304, rs2519378722, rs2518975185, rs2088176556, rs1242036108, rs541024038, rs797044545, rs2518365137, rs2522341060, rs786205703, rs1332825012, rs2519248264, rs2523209622, rs2518736477, rs886039245, rs886039247, rs886039249, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs2522412502, rs2520124995, rs2521251181, rs886039255, rs2518228505, rs2518623610, rs2517738978, rs2520118634, rs2523209714, rs2518976938, rs2521249838, rs2518594940, rs2522414074, rs2523314330, rs1057519107, rs1057524233, rs1315483224, rs1569083500, rs1568991466, rs1569067939, rs1568963062, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs1569512941, rs1569012755, rs1601970168, rs1603014708, rs1601755632, rs1602349641, rs1396898151, rs2082694133, rs2088167973, rs2092816377, rs2092817019, rs1339126434, rs2088011240	RCV001527670 RCV001724788 RCV001728031 RCV001730036 RCV001733802 RCV001785237 RCV001813897 RCV001848592 RCV000128400 RCV000128401 RCV004820901 RCV002249023 RCV002249024 RCV006249816 RCV002283350 RCV002288303 RCV002293389 RCV002294742 RCV000157606 RCV000192061 RCV002468697 RCV002468861 RCV000170597 RCV006252387 RCV004796748 RCV003128296 RCV003224991 RCV000254582 RCV000254597 RCV000254584 RCV000254620 RCV000254623 RCV000254587 RCV000254588 RCV000254600 RCV000254589 RCV000254591 RCV000254578 RCV000254579 RCV000254603 RCV000254612 RCV000254590 RCV000254607 RCV000254572 RCV003234241 RCV003234242 RCV003234243 RCV003329185 RCV003329186 RCV003330243 RCV003448720 RCV003456320 RCV005931545 RCV005871251 RCV003990656 RCV004555160 RCV004555386 RCV004595401 RCV003152706 RCV004594062 RCV001807648 RCV000678971 RCV005249029 RCV000722085 RCV000735240 RCV000043579 RCV000043580 RCV000043581 RCV000043582 RCV000043583 RCV000043584 RCV000043585 RCV005633663 RCV000768449 RCV001262756 RCV003144610 RCV000824860 RCV000990424 RCV001004764 RCV001172496 RCV001197578 RCV004594254 RCV001251110 RCV001263494 RCV004799631	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic	rs2522513585	RCV005932716	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial focal epilepsy with variable foci	Likely pathogenic; Pathogenic	rs2148102743, rs2148649751, rs2088011240, rs2148952714, rs945102665, rs2149419886, rs2148027425, rs2148027688, rs2148103087, rs2148103774, rs2148127827, rs2148128199, rs2148574616, rs2148575334, rs2148649693, rs2148821385, rs2148830445, rs2148952560, rs2148953095, rs2148953333, rs2148968890, rs2148968909, rs2149004143, rs748986619, rs2149024566, rs2149117486, rs2149231471, rs1309891064, rs2149397518, rs2149449522, rs2148103243, rs2082845191, rs2148514247, rs1265464096, rs2149397818, rs2149008450, rs2149024046, rs2149419668, rs2148801562, rs2148103177, rs372718805, rs2149025148, rs2087504321, rs2148707379, rs2148103123, rs2149267113, rs2148707724, rs2149024925, rs587777458, rs587777459, rs2149397188, rs2149449670, rs2148707066, rs1162414657, rs115299174, rs1016477183, rs2148802008, rs2149231722, rs2149256695, rs2148128349, rs2148587476, rs2148708041, rs2148128390, rs2148027711, rs1555882867, rs2149009589, rs1320510912, rs2149267082, rs939021094, rs2148633437, rs1400868304, rs541024038, rs786205703, rs1332825012, rs2518364241, rs2523594699, rs2523585627, rs2522510658, rs2522692819, rs2519448198, rs2518735622, rs2518936830, rs2519376156, rs2518913677, rs2520090573, rs2517947003, rs2523599212, rs2519949224, rs2517906263, rs2521233986, rs2517655700, rs2522189114, rs2522697912, rs2519248264, rs2519378518, rs2518620859, rs2522695366, rs2522341176, rs2517655719, rs1397187284, rs2523593612, rs2493077862, rs2518768537, rs2523317434, rs2082695884, rs2523432173, rs2517796451, rs2517947534, rs2518914339, rs2519249682, rs2519249455, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs757511744, rs886039261, rs886039263, rs578185749, rs886039268, rs886039269, rs886039273, rs886039255, rs2518362817, rs2085728214, rs371496533, rs2522420920, rs2517947215, rs1569232705, rs2522691572, rs2518938857, rs2519945087, rs2521250676, rs2517947258, rs2519485064, rs2518363378, rs2518876819, rs2519098517, rs2521559588, rs2518229660, rs2523209714, rs2519101659, rs2520194099, rs2520189518, rs2523314003, rs2518976938, rs2520118920, rs2517738284, rs2518623423, rs2523210580, rs2518594478, rs2520187527, rs2520192152, rs2517945218, rs2523314330, rs1057524233, rs1060501488, rs1060501487, rs1475605360, rs1556607762, rs1555882921, rs1555900914, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1555942720, rs1569166925, rs1569255443, rs1568955379, rs374158137, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs768241563, rs587776973, rs587776976, rs587776977, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs2083056830, rs2084070588, rs2082694133, rs2091645809, rs2091769406, rs2093575654, rs2087209471, rs2089433234, rs2091643419, rs2093758918, rs2086393945, rs2086398901, rs2092816377, rs2093755806, rs770620001	RCV001378004 RCV001377544 RCV001378237 RCV001379831 RCV001377503 RCV001377950 RCV001381059 RCV001387865 RCV001381081 RCV001386733 RCV001386068 RCV001386753 RCV001380671 RCV001383654 RCV001390862 RCV001390717 RCV001385747 RCV001381144 RCV001381030 RCV001390707 RCV001387402 RCV001388201 RCV001381210 RCV001383800 RCV001383107 RCV001381266 RCV001386042 RCV001383650 RCV001382317 RCV001382960 RCV001865948 RCV002032573 RCV001882785 RCV002539811 RCV001897343 RCV002032305 RCV001950945 RCV001905200 RCV001992580 RCV001942703 RCV001942426 RCV001896072 RCV001971599 RCV001928883 RCV001885441 RCV001867328 RCV002007388 RCV001878731 RCV001034630 RCV002514701 RCV001994616 RCV002000122 RCV001999530 RCV002007434 RCV002007531 RCV001945961 RCV001960702 RCV001986773 RCV001941589 RCV001889068 RCV001956311 RCV001972865 RCV001972800 RCV001897012 RCV002035713 RCV001902315 RCV001930986 RCV001886510 RCV001937595 RCV003759084 RCV003096212 RCV003593921 RCV001201380 RCV003776051 RCV002676361 RCV002746579 RCV002807225 RCV002797350 RCV002791236 RCV002819665 RCV002806388 RCV002796758 RCV002802155 RCV002834089 RCV002835256 RCV002838783 RCV002842618 RCV002851393 RCV002866217 RCV002875947 RCV002866648 RCV002872533 RCV002918300 RCV002976038 RCV002966328 RCV002975332 RCV002948005 RCV002985494 RCV003000016 RCV003013413 RCV003025551 RCV003011692 RCV003015962 RCV002996727 RCV003022125 RCV003027287 RCV003019795 RCV003022479 RCV003019970 RCV003034439 RCV003044095 RCV003048271 RCV003593945 RCV003593946 RCV001055331 RCV001045246 RCV001387792 RCV001245409 RCV001201358 RCV001859474 RCV001220276 RCV001034640 RCV002229724 RCV002518743 RCV003329485 RCV003594886 RCV003594823 RCV003594828 RCV003594914 RCV003594916 RCV003595099 RCV003595162 RCV003595116 RCV003595121 RCV003593554 RCV003593584 RCV003595578 RCV003593736 RCV003593806 RCV003593835 RCV003593836 RCV003594573 RCV003594477 RCV003594409 RCV003594410 RCV003594506 RCV003594610 RCV003760796 RCV003760845 RCV003760937 RCV003758223 RCV003758270 RCV003758469 RCV003758462 RCV003758306 RCV003758362 RCV003759192 RCV003758509 RCV003759386 RCV005102052 RCV001038460 RCV002230783 RCV002230782 RCV005056050 RCV002232307 RCV002232301 RCV002232300 RCV000538228 RCV000642490 RCV000642498 RCV002233511 RCV002233078 RCV003758898 RCV002233580 RCV002233531 RCV000695441 RCV002233551 RCV000697196 RCV000699880 RCV002233633 RCV002233583 RCV002534927 RCV003758914 RCV001034641 RCV001034675 RCV001387791 RCV001387793 RCV002234794 RCV000809950 RCV002234909 RCV000822722 RCV002234828 RCV000799300 RCV000824030 RCV002234246 RCV001041511 RCV001044471 RCV001052267 RCV001061551 RCV001071675 RCV001062419 RCV001386317 RCV001873594 RCV001220914 RCV001214996 RCV001214839 RCV001203516 RCV001203486 RCV001210712 RCV001205957 RCV001209111 RCV001238521 RCV001235600 RCV001229617 RCV001244865 RCV001232006 RCV002537918	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Focal epilepsy	Likely pathogenic	rs2522513585	RCV005623520	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1601970168	RCV001255322	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs2518365694	RCV005927058	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs2148102743	RCV005937434	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs1556526609	RCV005900233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2149118240, rs2520092645, rs886039268, rs2518395818, rs1315483224, rs1568991466, rs587776976, rs2082695884	RCV002275461 RCV002292218 RCV002274966 RCV004545970 RCV004588067 RCV005624420 RCV002274906 RCV001526550	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs886039266, rs1383795440, rs1555897392	RCV000656075 RCV000656066 RCV000656072	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell carcinoma of the head and neck	Pathogenic	rs886039246	RCV005895418	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SUDDEN INFANT DEATH SYNDROME	Likely pathogenic; Pathogenic	rs2148968418, rs781125997	RCV001787417 RCV001787420	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal cerebral morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATERAL TEMPORAL LOBE EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 83	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PARTIAL, WITH VARIABLE FOCI	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial prostate cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety disorder	Pubtator	26216793	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29075622		★☆☆☆☆ Found in Text Mining only
Autosomal dominant epilepsy with auditory features	Epilepsy With Auditory Features	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Lateral Temporal Lobe Epilepsy	Temporal lobe epilepsy	ORPHANET_DG	23542697, 23542701		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	ORPHANET_DG	23542697, 23542701		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nocturnal frontal lobe epilepsy	Nocturnal Epilepsy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal Epilepsy	BEFREE	24814846		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BAND HETEROTOPIA	Band Heterotopia	BEFREE	24585383		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37263295	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25551790, 26517016, 28928439, 30723271	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	26517016		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	24585383, 25833943, 29274432, 31174205		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Fleck	Corneal dystrophy	Pubtator	25623524	Associate	★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	25833943		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30130595		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	23542701, 25623524, 26216793, 29125946, 30911571, 34018700, 35907814, 36067010, 36639812, 37390664, 37722146	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	23542701, 24283814, 24585383, 24591017, 24615646, 25194487, 25366275, 25623524, 26216793, 26505888, 27173016, 27208208, 28170089, 28406046, 29708508, 29708509, 29761115, 29861134, 30427063, 31174205, 31639411		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	24585383, 24591017, 25194487, 25623524, 28406046, 28974734, 29125946, 29274432, 29708508, 29761115, 30093711, 31174205, 31625153, 31639411		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	25623524, 26216793, 29125946, 30977854, 32574724, 32613771, 36067010, 36639812, 37263295, 37390664	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	26216793	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	26216793, 28633043	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1	Epilepsy	GENOMICS_ENGLAND_DG	10577924, 23542701		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1	Epilepsy	CLINVAR_DG	23542697, 23542701, 24283814, 24585383, 24591017, 24814846, 25366275, 25599672, 25623524, 26000329, 26216793, 26505888, 26704558, 27066544, 27066554, 27066565, 27159400		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1	Epilepsy	UNIPROT_DG	23542697, 23542701, 24283814, 24591017, 25366275, 26505888, 27173016		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, Frontal Lobe	Epilepsy	BEFREE	26786403		★☆☆☆☆ Found in Text Mining only
Epilepsy, Partial, with Variable Foci	Epilepsy	BEFREE	23542697, 24283814, 24585383, 24814846, 26216793, 30767899, 31225799		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Partial, with Variable Foci	Epilepsy	ORPHANET_DG	23542697, 23542701		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Partial, with Variable Foci	Epilepsy	CLINGEN_DG	23542697, 23542701, 24283814, 29481864, 29708509, 29761115, 29861134, 29950950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Partial, with Variable Foci	Epilepsy	CLINVAR_DG	23542697, 23542701, 24585383, 24814846, 26000329, 26505888, 26704558, 27066554, 28102150, 28199897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Partial, with Variable Foci	Epilepsy	CTD_human_DG	23542697, 23542701		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Partial, with Variable Foci	Epilepsy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	26216793		★☆☆☆☆ Found in Text Mining only
Familial focal epilepsy with variable foci	Epilepsy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibroid Tumor	Leiomyoma	BEFREE	25964426		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	25599672, 29708508, 30080265, 31074842, 31625153, 31639411, 31835056		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	25599672, 25623524, 31353856, 31835056, 36067010, 37006128	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	25623524, 29125946, 29708508, 29708509, 31639411		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia of Taylor	Focal cortical dysplasia	Pubtator	31074842, 36342087, 36697241	Associate	★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia type IIa	Focal cortical dysplasia	BEFREE	30080265		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31636198		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	36067010	Associate	★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	25599672, 25833943, 31625153		★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	Pubtator	25599672, 31444548	Associate	★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	25551790	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	25551790, 26517016	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33278787	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	21725309, 25032264, 25551790, 26211651, 26517016, 28928439, 29311600, 30289982, 30683632, 30723271		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21725309		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASDB_DG	23242368		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	25551790, 26517016		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	25551790	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	26517016	Associate	★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	25833943, 29481864		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	24615646, 29481864, 31481326		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	29125946, 31353856, 36226386	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	29486199		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25964426, 31548394, 31636198		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29481864		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	36067010	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	36067010	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	28090653		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	39950246	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33453592	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status epilepticus	Pubtator	33278787	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	25833943		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	25964426		★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	31791873		★☆☆☆☆ Found in Text Mining only