SLC6A1 (solute carrier family 6 member 1)

Gene

• Entrez ID: 6529
• Gene name: Solute carrier family 6 member 1
• Gene symbol: SLC6A1
• Synonyms (NCBI Gene): GABATHG, GABATR, GAT1, MAE, hGAT-1
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs745529755	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs749240316	G>A,C	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs752396911	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs794726860	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs876657400	G>A	Pathogenic	Missense variant, coding sequence variant
rs876657401	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042046	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1064794981	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1064795098	C>T	Likely-pathogenic, not-provided	Stop gained, coding sequence variant
rs1064795099	C>A,G	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1064796533	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691302	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1199489242	G>-,GG	Pathogenic	Splice acceptor variant, coding sequence variant
rs1403165900	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1410013974	C>G,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1553688970	CTGGCCATCACGCTGGCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553689580	T>C	Pathogenic	Missense variant, coding sequence variant
rs1553689664	A>G	Pathogenic	Splice acceptor variant
rs1553689696	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1553689859	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553690421	C>GT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553690452	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553690583	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553690601	CTCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553691674	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1559626646	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1559629701	C>A,G	Likely-pathogenic	Stop gained, coding sequence variant
rs1559633512	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1559639240	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1559640454	G>A	Pathogenic	Stop gained, coding sequence variant
rs1574906665	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1574907198	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1574913614	C>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs1574917501	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1574924801	G>C	Likely-pathogenic	Splice acceptor variant
rs1574929097	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT490368	hsa-miR-4779	PAR-CLIP	20371350
MIRT490366	hsa-miR-211-3p	PAR-CLIP	20371350
MIRT490365	hsa-miR-151a-5p	PAR-CLIP	20371350
MIRT490364	hsa-miR-151b	PAR-CLIP	20371350
MIRT490363	hsa-miR-4285	PAR-CLIP	20371350
MIRT490362	hsa-miR-1538	PAR-CLIP	20371350
MIRT490361	hsa-miR-4745-3p	PAR-CLIP	20371350
MIRT490369	hsa-miR-548e-5p	PAR-CLIP	23592263
MIRT490370	hsa-miR-665	PAR-CLIP	23592263
MIRT490368	hsa-miR-4779	PAR-CLIP	23592263
MIRT490367	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT490366	hsa-miR-211-3p	PAR-CLIP	23592263
MIRT490365	hsa-miR-151a-5p	PAR-CLIP	23592263
MIRT490364	hsa-miR-151b	PAR-CLIP	23592263
MIRT490363	hsa-miR-4285	PAR-CLIP	23592263
MIRT490362	hsa-miR-1538	PAR-CLIP	23592263
MIRT490361	hsa-miR-4745-3p	PAR-CLIP	23592263
MIRT490368	hsa-miR-4779	PAR-CLIP	20371350
MIRT490366	hsa-miR-211-3p	PAR-CLIP	20371350
MIRT490365	hsa-miR-151a-5p	PAR-CLIP	20371350
MIRT490364	hsa-miR-151b	PAR-CLIP	20371350
MIRT490363	hsa-miR-4285	PAR-CLIP	20371350
MIRT490362	hsa-miR-1538	PAR-CLIP	20371350
MIRT490361	hsa-miR-4745-3p	PAR-CLIP	20371350
MIRT490369	hsa-miR-548e-5p	PAR-CLIP	23592263
MIRT490370	hsa-miR-665	PAR-CLIP	23592263
MIRT490368	hsa-miR-4779	PAR-CLIP	23592263
MIRT490367	hsa-miR-7845-5p	PAR-CLIP	23592263
MIRT490366	hsa-miR-211-3p	PAR-CLIP	23592263
MIRT490365	hsa-miR-151a-5p	PAR-CLIP	23592263
MIRT490364	hsa-miR-151b	PAR-CLIP	23592263
MIRT490363	hsa-miR-4285	PAR-CLIP	23592263
MIRT490362	hsa-miR-1538	PAR-CLIP	23592263
MIRT490361	hsa-miR-4745-3p	PAR-CLIP	23592263
MIRT1365862	hsa-miR-1229	CLIP-seq
MIRT1365863	hsa-miR-1255a	CLIP-seq
MIRT1365864	hsa-miR-1255b	CLIP-seq
MIRT1365865	hsa-miR-128	CLIP-seq
MIRT1365866	hsa-miR-151-5p	CLIP-seq
MIRT1365867	hsa-miR-1914	CLIP-seq
MIRT1365868	hsa-miR-2110	CLIP-seq
MIRT1365869	hsa-miR-23a	CLIP-seq
MIRT1365870	hsa-miR-23b	CLIP-seq
MIRT1365871	hsa-miR-23c	CLIP-seq
MIRT1365872	hsa-miR-27a	CLIP-seq
MIRT1365873	hsa-miR-27b	CLIP-seq
MIRT1365874	hsa-miR-3074-5p	CLIP-seq
MIRT1365875	hsa-miR-3150b-3p	CLIP-seq
MIRT1365876	hsa-miR-3167	CLIP-seq
MIRT1365877	hsa-miR-3185	CLIP-seq
MIRT1365878	hsa-miR-338-5p	CLIP-seq
MIRT1365879	hsa-miR-342-3p	CLIP-seq
MIRT1365880	hsa-miR-34a	CLIP-seq
MIRT1365881	hsa-miR-34c-5p	CLIP-seq
MIRT1365882	hsa-miR-365	CLIP-seq
MIRT1365883	hsa-miR-3677-5p	CLIP-seq
MIRT1365884	hsa-miR-369-3p	CLIP-seq
MIRT1365885	hsa-miR-374c	CLIP-seq
MIRT1365886	hsa-miR-377	CLIP-seq
MIRT1365887	hsa-miR-4264	CLIP-seq
MIRT1365888	hsa-miR-4271	CLIP-seq
MIRT1365889	hsa-miR-4277	CLIP-seq
MIRT1365890	hsa-miR-4278	CLIP-seq
MIRT1365891	hsa-miR-4328	CLIP-seq
MIRT1365892	hsa-miR-4446-5p	CLIP-seq
MIRT1365893	hsa-miR-4450	CLIP-seq
MIRT1365894	hsa-miR-4460	CLIP-seq
MIRT1365895	hsa-miR-449a	CLIP-seq
MIRT1365896	hsa-miR-449b	CLIP-seq
MIRT1365897	hsa-miR-4666-3p	CLIP-seq
MIRT1365898	hsa-miR-4689	CLIP-seq
MIRT1365899	hsa-miR-4698	CLIP-seq
MIRT1365900	hsa-miR-4709-3p	CLIP-seq
MIRT1365901	hsa-miR-4725-3p	CLIP-seq
MIRT1365902	hsa-miR-4727-3p	CLIP-seq
MIRT1365903	hsa-miR-4784	CLIP-seq
MIRT1365904	hsa-miR-4797-3p	CLIP-seq
MIRT1365905	hsa-miR-513a-5p	CLIP-seq
MIRT1365906	hsa-miR-578	CLIP-seq
MIRT1365907	hsa-miR-580	CLIP-seq
MIRT1365908	hsa-miR-655	CLIP-seq
MIRT1365909	hsa-miR-876-5p	CLIP-seq
MIRT1365910	hsa-miR-935	CLIP-seq
MIRT1365911	hsa-miR-938	CLIP-seq
MIRT1553824	hsa-miR-1180	CLIP-seq
MIRT1553825	hsa-miR-1298	CLIP-seq
MIRT1553826	hsa-miR-1908	CLIP-seq
MIRT1553827	hsa-miR-3960	CLIP-seq
MIRT1553828	hsa-miR-4467	CLIP-seq
MIRT1553829	hsa-miR-4706	CLIP-seq
MIRT1553830	hsa-miR-4749-5p	CLIP-seq
MIRT1553831	hsa-miR-663	CLIP-seq
MIRT1365878	hsa-miR-338-5p	CLIP-seq
MIRT2108643	hsa-miR-4316	CLIP-seq
MIRT2332254	hsa-miR-132	CLIP-seq
MIRT2332255	hsa-miR-212	CLIP-seq
MIRT2332256	hsa-miR-4773	CLIP-seq
MIRT2332257	hsa-miR-873	CLIP-seq
MIRT1553824	hsa-miR-1180	CLIP-seq
MIRT1553825	hsa-miR-1298	CLIP-seq
MIRT1553826	hsa-miR-1908	CLIP-seq
MIRT1553827	hsa-miR-3960	CLIP-seq
MIRT1553828	hsa-miR-4467	CLIP-seq
MIRT1553829	hsa-miR-4706	CLIP-seq
MIRT1553830	hsa-miR-4749-5p	CLIP-seq
MIRT1553831	hsa-miR-663	CLIP-seq
MIRT1365865	hsa-miR-128	CLIP-seq
MIRT1365872	hsa-miR-27a	CLIP-seq
MIRT1365873	hsa-miR-27b	CLIP-seq
MIRT2440551	hsa-miR-4477a	CLIP-seq
MIRT2440552	hsa-miR-4477b	CLIP-seq
MIRT2440553	hsa-miR-4699-3p	CLIP-seq
MIRT2459836	hsa-miR-1976	CLIP-seq
MIRT2459837	hsa-miR-518a-5p	CLIP-seq
MIRT2459838	hsa-miR-527	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IEA
GO:0005283	Function	Amino acid:sodium symporter activity	IEA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IBA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IDA	10973981
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IEA
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	IMP	30132828
GO:0005332	Function	Gamma-aminobutyric acid:sodium:chloride symporter activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10973981
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006865	Process	Amino acid transport	IBA
GO:0007268	Process	Chemical synaptic transmission	TAS	8530094
GO:0007613	Process	Memory	IEA
GO:0007613	Process	Memory	ISS
GO:0008306	Process	Associative learning	IEA
GO:0008306	Process	Associative learning	ISS
GO:0009986	Component	Cell surface	IBA
GO:0015185	Function	Gamma-aminobutyric acid transmembrane transporter activity	IEA
GO:0015185	Function	Gamma-aminobutyric acid transmembrane transporter activity	ISS
GO:0015293	Function	Symporter activity	IEA
GO:0015378	Function	Sodium:chloride symporter activity	IDA	10973981
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	2387399, 8530094
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050808	Process	Synapse organization	ISS
GO:0051936	Process	Gamma-aminobutyric acid reuptake	TAS
GO:0051939	Process	Gamma-aminobutyric acid import	IDA	10973981
GO:0051939	Process	Gamma-aminobutyric acid import	IEA
GO:0051939	Process	Gamma-aminobutyric acid import	ISS
GO:0098658	Process	Inorganic anion import across plasma membrane	IDA	10973981
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	10973981
GO:0098793	Component	Presynapse	IEA
GO:0098810	Process	Neurotransmitter reuptake	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1902476	Process	Chloride transmembrane transport	IDA	10973981

Other IDs

• MIM: 137165
• HGNC: 11042
• e!Ensembl: ENSG00000157103

Protein

• UniProt ID: P30531
• Protein name: Sodium- and chloride-dependent GABA transporter 1 (GAT-1) (Solute carrier family 6 member 1)
• Protein function: Mediates transport of gamma-aminobutyric acid (GABA) together with sodium and chloride and is responsible for the reuptake of GABA from the synapse (PubMed:30132828). The translocation of GABA, however, may also occur in the reverse direction le
• PDB: 7SK2, 7Y7V, 7Y7W, 7Y7Y, 7Y7Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00209	SNF	44 → 559	Sodium:neurotransmitter symporter family	Family

• Sequence:

  MATNGSKVADGQISTEVSEAPVANDKPKTLVVKVQKKAADLPDRDTWKGRFDFLMSCVGY
  AIGLGNVWRFPYLCGKNGGGAFLIPYFLTLIFAGVPLFLLECSLGQYTSIGGLGVWKLAP
  MFKGVGLAAAVLSFWLNIYYIVIISWAIYYLYNSFTTTLPWKQCDNPWNTDRCFSNYSMV
  NTTNMTSAVVEFWERNMHQMTDGLDKPGQIRWPLAITLAIAWILVYFCIWKGVGWTGKVV
  YFSATYPYIMLIILFFRGVTLPGAKEGILFYITPNFRKLSDSEVWLDAATQIFFSYGLGL
  GSLIALGSYNSFHNNVYRDSIIVCCINSCTSMFAGFVIFSIVGFMAHVTKRSIADVAASG
  PGLAFLAYPEAVTQLPISPLWAILFFSMLLMLGIDSQFCTVEGFITALVDEYPRLLRNRR
  ELFIAAVCIISYLIGLSNITQGGIYVFKLFDYYSASGMSLLFLVFFECVSISWFYGVNRF
  YDNIQEMVGSRPCIWWKLCWSFFTPIIVAGVFIFSAVQMTPLTMGNYVFPKWGQGVGWLM
  ALSSMVLIPGYMAYMFLTLKGSLKQRIQVMVQPSEDIVRPENGPEQPQAGSSTSKEAYI

• Sequence length: 599

Pathways

KEGG:

Synaptic vesicle cycle
GABAergic synapse

Reactome:

Na+/Cl- dependent neurotransmitter transporters
Reuptake of GABA

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
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs794726860	RCV002508925	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant epilepsy	Pathogenic	rs794726859	RCV003156080	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy with myoclonic atonic seizures	Likely pathogenic; Pathogenic	rs1064795852, rs2124907093, rs2124912717, rs2124917812, rs2124926277, rs2124932157, rs2124905696, rs2124905063, rs2124905507, rs2124930966, rs1553689859, rs2124932194, rs2124926212, rs2124908824, rs2124924957, rs2124931871, rs2124924976, rs1479789276, rs2124924932, rs2124905654, rs1698023649, rs2124908675, rs2124942597, rs2124907082, rs2124932154, rs2124924369, rs2124930894, rs2124924504, rs2124926302, rs2124924511, rs144034291, rs2470258906, rs2124906690, rs2470222670, rs2470224446, rs2470263679, rs2470196296, rs794726859, rs876657400, rs749240316, rs876657401, rs794726860, rs2470192158, rs2470203986, rs2470239589, rs1574901337, rs2470191807, rs2470192385, rs2470259450, rs2470224452, rs2470203267, rs2470210792, rs2470224623, rs2470222589, rs886042046, rs1385319298, rs2470192319, rs1697224249, rs2470228303, rs1574924801, rs2470263294, rs2470264425, rs2470191935, rs151263329, rs2470237214, rs1199489242, rs1698067782, rs2470236698, rs2470263712, rs2470227625, rs1064795290, rs1064795098, rs1064794981, rs1085307804, rs1131691302, rs1553688015, rs1553689696, rs1553687863, rs1553688970, rs1553690583, rs1553689580, rs745529755, rs1553691674, rs1559622516, rs1064795099, rs1559623389, rs1559639240, rs1574893965, rs1574897036, rs1574917501, rs1574906665, rs1574913614, rs1574929097, rs1574907198, rs1559629701, rs766945941, rs2470203335, rs2470222392, rs760836450, rs1697891755, rs1698067665, rs1697775287, rs1697748409, rs1697197599, rs1697444489, rs1697893468, rs1697337518, rs1697775354, rs1697186082, rs1697263091, rs1698067880, rs1698023156	RCV005057349 RCV005057347 RCV003444855 RCV005057359 RCV005057354 RCV003444853 RCV003444911 RCV003444912 RCV003444914 RCV003444920 RCV003444921 RCV005057615 RCV005057618 RCV005057810 RCV003444962 RCV005057741 RCV005057851 RCV005057706 RCV005057930 RCV005057917 RCV005057732 RCV005057764 RCV005057769 RCV005057839 RCV003444243 RCV003444245 RCV003444246 RCV003444247 RCV003444250 RCV003444251 RCV003444253 RCV003444254 RCV003444256 RCV003444263 RCV003444275 RCV003444276 RCV005059146 RCV003444212 RCV003444213 RCV003444214 RCV003444215 RCV003444216 RCV003444290 RCV005059055 RCV005059061 RCV005059064 RCV005059069 RCV005059070 RCV005059081 RCV005059103 RCV005059112 RCV005059114 RCV005059118 RCV003444378 RCV003444225 RCV003444384 RCV003444387 RCV005062947 RCV005062950 RCV005062997 RCV005063005 RCV005063012 RCV005063031 RCV005063039 RCV005063087 RCV005063116 RCV005063133 RCV005059593 RCV005059595 RCV005059598 RCV003444552 RCV003444551 RCV003444550 RCV005056051 RCV003444553 RCV003444555 RCV003444558 RCV003444559 RCV003444564 RCV003444594 RCV003444576 RCV005056345 RCV003444616 RCV003444613 RCV005056443 RCV003444642 RCV003444640 RCV005056430 RCV005056435 RCV005056573 RCV003444692 RCV005056590 RCV005056602 RCV003444696 RCV003444695 RCV003444698 RCV003444699 RCV003444731 RCV005208153 RCV003444733 RCV003444740 RCV003444739 RCV003444737 RCV005056831 RCV005056829 RCV005056830 RCV005056809 RCV005056811 RCV005057107 RCV005057095 RCV005057096 RCV005057094 RCV005057087 RCV005057114 RCV003444801 RCV003444808 RCV005253772 RCV003444811	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs886042046, rs1574891108	RCV001007935 RCV001003581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs1697443771, rs749240316, rs1574907198, rs1697264007, rs1697444014, rs1698067880	RCV001526570 RCV001003582 RCV001257677 RCV001257718 RCV001257678 RCV001257717	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1697197329, rs1064794981, rs1131691302	RCV002274373 RCV002274039 RCV002274042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1553689696	RCV002279277	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic; Likely pathogenic	rs1697261615, rs1064794981, rs749240316, rs1574891108	RCV004577986 RCV004556060 RCV001003582 RCV001003581	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC6A1-related disorder	Likely pathogenic; Pathogenic	rs2470210847, rs2470237325, rs1553689859, rs1559622516, rs749240316, rs1574913614, rs1698067665, rs1697264007	RCV004534285 RCV004536743 RCV004533415 RCV004535729 RCV004528309 RCV003325980 RCV003233930 RCV004538543	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC6A1-related neurodevelopmental disorder	Pathogenic	rs1553688970	RCV002464258	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC6A1-related neurodevelopmental condition	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ 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	37264161	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20132478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	20132478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	20132478		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	20132478		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	18607529, 30222312		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	18607529	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	18607529, 30222312		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	18607529	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	32375772	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	29315614	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	23527680, 32375772	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28442423		★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	23527680	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29961511		★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	33527113, 34028503, 35761184	Associate	★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26716362, 32660967, 40624551	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29148909		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30250563		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28559171		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30452401	Associate	★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	11074187		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	37023088	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35251372	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	11074187		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29394133		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	17164814, 20016099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	31932766, 32660967, 34028503, 35761184	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	23527680	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12451126, 22495306, 23020937, 25865495, 26716362, 9623887		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	25865495		★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	27600546	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	29315614	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25865495, 29315614, 29621621, 29693164, 30132828, 31093879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	27600546, 29315614, 32660967, 35761184, 39344240, 39923323	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Absence	Absence epilepsy	Pubtator	34028503	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Generalized epilepsy	Pubtator	29315614, 31401500	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	39344240	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy with myoclonic-atonic seizures	Myoclonic atonic seizures	BEFREE	25865495, 27600546		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy with myoclonic-atonic seizures	Myoclonic atonic seizures	GENOMICS_ENGLAND_DG	25865495		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	30132828, 31401500		★☆☆☆☆ Found in Text Mining only
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	11074187		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	26716362		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	31401500	Associate	★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	11074187		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36405708	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	29315614, 31170314, 31176687		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	29315614, 32660967, 34028503	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	11074187		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	29315614, 32375772	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	29315614	Associate	★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	31176687		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30250563		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	17164814, 20016099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Skills Disorders	Motor skills disorder	Pubtator	32375772	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	ORPHANET_DG	25865495		★☆☆☆☆ Found in Text Mining only
Myoclonic Astatic Epilepsy	Myoclonic Astatic Epilepsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myoclonic-astatic epilepsy	Myoclonic-Astatic Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
MYOCLONIC-ATONIC EPILEPSY	Myoclonic-Atonic Epilepsy	CLINVAR_DG	22495306, 24859339, 25865495, 28856709, 29315614		★☆☆☆☆ Found in Text Mining only
MYOCLONIC-ATONIC EPILEPSY	Myoclonic-Atonic Epilepsy	UNIPROT_DG	25865495		★☆☆☆☆ Found in Text Mining only
MYOCLONIC-ATONIC EPILEPSY	Myoclonic-Atonic Epilepsy	GENOMICS_ENGLAND_DG	25865495		★☆☆☆☆ Found in Text Mining only
MYOCLONIC-ATONIC EPILEPSY	Myoclonic-Atonic Epilepsy	BEFREE	29315614, 30132828, 31170314, 31176687		★☆☆☆☆ Found in Text Mining only
MYOCLONIC-ATONIC EPILEPSY	Myoclonic-Atonic Epilepsy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	32375772	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30255012		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889, 29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	16470700	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30250563		★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	BEFREE	18607529		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic disorder	Pubtator	18607529	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29961511		★☆☆☆☆ Found in Text Mining only
Photosensitive tonic-clonic seizures	Photosensitive tonic-clonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28067785		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11156808, 17471287, 24361861, 25312391		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	18923069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	31932766	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	27600546, 29315614, 31401500, 32660967, 39923323	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	11074187		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	11074187		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	28559171		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	11074187		★☆☆☆☆ Found in Text Mining only