Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	112476
Gene name	Proline rich transmembrane protein 2
Gene symbol	PRRT2
Synonyms (NCBI Gene)	BFIC2BFIS2DSPB3DYT10EKD1FICCAICCAIFITMD1PKC
Chromosome	16
Chromosome location	16p11.2
Summary	This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated

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Show/Hide all (209)

miRTarBase ID	miRNA	Experiments	Reference
MIRT490083	hsa-miR-8080	PAR-CLIP	20371350
MIRT490081	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT569947	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569946	hsa-miR-9500	PAR-CLIP	20371350
MIRT569945	hsa-miR-4533	PAR-CLIP	20371350
MIRT569944	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT569943	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT490075	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT490074	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT490073	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT490072	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT490069	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT490070	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT490068	hsa-miR-5698	PAR-CLIP	20371350
MIRT490067	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT490066	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT490065	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT490064	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT490083	hsa-miR-8080	PAR-CLIP	23592263
MIRT490082	hsa-miR-4428	PAR-CLIP	23592263
MIRT490081	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT490080	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT490079	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT490078	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT490077	hsa-miR-4306	PAR-CLIP	23592263
MIRT490076	hsa-miR-4644	PAR-CLIP	23592263
MIRT490075	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT490074	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT490073	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT490072	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT490071	hsa-miR-3175	PAR-CLIP	23592263
MIRT490069	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490070	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490068	hsa-miR-5698	PAR-CLIP	23592263
MIRT490067	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490066	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490065	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT490064	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT490063	hsa-miR-504-5p	PAR-CLIP	23592263
MIRT490062	hsa-miR-4530	PAR-CLIP	23592263
MIRT490061	hsa-miR-4292	PAR-CLIP	23592263
MIRT490060	hsa-miR-6791-5p	PAR-CLIP	23592263
MIRT490059	hsa-miR-6742-3p	PAR-CLIP	23592263
MIRT490058	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT490056	hsa-miR-4725-5p	PAR-CLIP	23592263
MIRT490057	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT490055	hsa-miR-6745	PAR-CLIP	23592263
MIRT490054	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT490053	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT490052	hsa-miR-1293	PAR-CLIP	23592263
MIRT490051	hsa-miR-4483	PAR-CLIP	23592263
MIRT490050	hsa-miR-6772-5p	PAR-CLIP	23592263
MIRT490049	hsa-miR-4455	PAR-CLIP	23592263
MIRT490048	hsa-miR-609	PAR-CLIP	23592263
MIRT490047	hsa-miR-4281	PAR-CLIP	23592263
MIRT490046	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT490045	hsa-miR-4669	PAR-CLIP	23592263
MIRT490044	hsa-miR-7977	PAR-CLIP	23592263
MIRT490043	hsa-miR-1262	PAR-CLIP	23592263
MIRT490041	hsa-miR-4701-3p	PAR-CLIP	23592263
MIRT490042	hsa-miR-6736-5p	PAR-CLIP	23592263
MIRT490040	hsa-miR-6741-5p	PAR-CLIP	23592263
MIRT490039	hsa-miR-133a-3p	PAR-CLIP	23592263
MIRT490083	hsa-miR-8080	PAR-CLIP	20371350
MIRT490081	hsa-miR-483-5p	PAR-CLIP	20371350
MIRT569947	hsa-miR-6873-5p	PAR-CLIP	20371350
MIRT569946	hsa-miR-9500	PAR-CLIP	20371350
MIRT569945	hsa-miR-4533	PAR-CLIP	20371350
MIRT569944	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT569943	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT490075	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT490074	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT490073	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT490072	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT490069	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT490070	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT490068	hsa-miR-5698	PAR-CLIP	20371350
MIRT490067	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT490066	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT490065	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT490064	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT490083	hsa-miR-8080	PAR-CLIP	23592263
MIRT490082	hsa-miR-4428	PAR-CLIP	23592263
MIRT490081	hsa-miR-483-5p	PAR-CLIP	23592263
MIRT490080	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT490079	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT490078	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT490077	hsa-miR-4306	PAR-CLIP	23592263
MIRT490076	hsa-miR-4644	PAR-CLIP	23592263
MIRT490075	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT490074	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT490073	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT490072	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT490071	hsa-miR-3175	PAR-CLIP	23592263
MIRT490069	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490070	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490068	hsa-miR-5698	PAR-CLIP	23592263
MIRT490067	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490066	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490065	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT490064	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT490063	hsa-miR-504-5p	PAR-CLIP	23592263
MIRT490062	hsa-miR-4530	PAR-CLIP	23592263
MIRT490061	hsa-miR-4292	PAR-CLIP	23592263
MIRT490060	hsa-miR-6791-5p	PAR-CLIP	23592263
MIRT490059	hsa-miR-6742-3p	PAR-CLIP	23592263
MIRT490058	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT490056	hsa-miR-4725-5p	PAR-CLIP	23592263
MIRT490057	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT490055	hsa-miR-6745	PAR-CLIP	23592263
MIRT490054	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT490053	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT490052	hsa-miR-1293	PAR-CLIP	23592263
MIRT490051	hsa-miR-4483	PAR-CLIP	23592263
MIRT490050	hsa-miR-6772-5p	PAR-CLIP	23592263
MIRT490049	hsa-miR-4455	PAR-CLIP	23592263
MIRT490048	hsa-miR-609	PAR-CLIP	23592263
MIRT490047	hsa-miR-4281	PAR-CLIP	23592263
MIRT490046	hsa-miR-323a-5p	PAR-CLIP	23592263
MIRT490045	hsa-miR-4669	PAR-CLIP	23592263
MIRT490044	hsa-miR-7977	PAR-CLIP	23592263
MIRT490043	hsa-miR-1262	PAR-CLIP	23592263
MIRT490041	hsa-miR-4701-3p	PAR-CLIP	23592263
MIRT490042	hsa-miR-6736-5p	PAR-CLIP	23592263
MIRT490040	hsa-miR-6741-5p	PAR-CLIP	23592263
MIRT490039	hsa-miR-133a-3p	PAR-CLIP	23592263
MIRT1268225	hsa-miR-1255a	CLIP-seq
MIRT1268226	hsa-miR-1255b	CLIP-seq
MIRT1268227	hsa-miR-1257	CLIP-seq
MIRT1268228	hsa-miR-1275	CLIP-seq
MIRT1268229	hsa-miR-1286	CLIP-seq
MIRT1268230	hsa-miR-1321	CLIP-seq
MIRT1268231	hsa-miR-139-5p	CLIP-seq
MIRT1268232	hsa-miR-1827	CLIP-seq
MIRT1268233	hsa-miR-1909	CLIP-seq
MIRT1268234	hsa-miR-2467-3p	CLIP-seq
MIRT1268235	hsa-miR-31	CLIP-seq
MIRT1268236	hsa-miR-3127-5p	CLIP-seq
MIRT1268237	hsa-miR-3128	CLIP-seq
MIRT1268238	hsa-miR-3180-5p	CLIP-seq
MIRT1268239	hsa-miR-3185	CLIP-seq
MIRT1268240	hsa-miR-3652	CLIP-seq
MIRT1268241	hsa-miR-4260	CLIP-seq
MIRT1268242	hsa-miR-4270	CLIP-seq
MIRT1268243	hsa-miR-4430	CLIP-seq
MIRT1268244	hsa-miR-4436a	CLIP-seq
MIRT1268245	hsa-miR-4441	CLIP-seq
MIRT1268246	hsa-miR-4477b	CLIP-seq
MIRT1268247	hsa-miR-4492	CLIP-seq
MIRT1268248	hsa-miR-4498	CLIP-seq
MIRT1268249	hsa-miR-4650-5p	CLIP-seq
MIRT1268250	hsa-miR-4665-5p	CLIP-seq
MIRT1268251	hsa-miR-4715-5p	CLIP-seq
MIRT1268252	hsa-miR-4722-5p	CLIP-seq
MIRT1268253	hsa-miR-4739	CLIP-seq
MIRT1268254	hsa-miR-4756-5p	CLIP-seq
MIRT1268255	hsa-miR-519a	CLIP-seq
MIRT1268256	hsa-miR-519b-3p	CLIP-seq
MIRT1268257	hsa-miR-519c-3p	CLIP-seq
MIRT1268258	hsa-miR-520a-5p	CLIP-seq
MIRT1268259	hsa-miR-525-5p	CLIP-seq
MIRT1268260	hsa-miR-582-5p	CLIP-seq
MIRT1268261	hsa-miR-7	CLIP-seq
MIRT1268262	hsa-miR-759	CLIP-seq
MIRT1268263	hsa-miR-762	CLIP-seq
MIRT1268264	hsa-miR-940	CLIP-seq
MIRT1268228	hsa-miR-1275	CLIP-seq
MIRT1268230	hsa-miR-1321	CLIP-seq
MIRT1268233	hsa-miR-1909	CLIP-seq
MIRT2078838	hsa-miR-198	CLIP-seq
MIRT2078839	hsa-miR-2110	CLIP-seq
MIRT2078840	hsa-miR-3123	CLIP-seq
MIRT2078841	hsa-miR-3150a-3p	CLIP-seq
MIRT2078842	hsa-miR-3689d	CLIP-seq
MIRT2078843	hsa-miR-3919	CLIP-seq
MIRT2078844	hsa-miR-4259	CLIP-seq
MIRT1268241	hsa-miR-4260	CLIP-seq
MIRT1268242	hsa-miR-4270	CLIP-seq
MIRT1268245	hsa-miR-4441	CLIP-seq
MIRT1268247	hsa-miR-4492	CLIP-seq
MIRT1268248	hsa-miR-4498	CLIP-seq
MIRT1268250	hsa-miR-4665-5p	CLIP-seq
MIRT1268253	hsa-miR-4739	CLIP-seq
MIRT1268254	hsa-miR-4756-5p	CLIP-seq
MIRT1268258	hsa-miR-520a-5p	CLIP-seq
MIRT1268259	hsa-miR-525-5p	CLIP-seq
MIRT2078845	hsa-miR-571	CLIP-seq
MIRT1268263	hsa-miR-762	CLIP-seq
MIRT2078846	hsa-miR-939	CLIP-seq
MIRT2078839	hsa-miR-2110	CLIP-seq
MIRT2078841	hsa-miR-3150a-3p	CLIP-seq
MIRT2078842	hsa-miR-3689d	CLIP-seq
MIRT2078844	hsa-miR-4259	CLIP-seq
MIRT2078845	hsa-miR-571	CLIP-seq
MIRT2078846	hsa-miR-939	CLIP-seq
MIRT1268246	hsa-miR-4477b	CLIP-seq
MIRT1268230	hsa-miR-1321	CLIP-seq
MIRT1268233	hsa-miR-1909	CLIP-seq
MIRT1268239	hsa-miR-3185	CLIP-seq
MIRT1268240	hsa-miR-3652	CLIP-seq
MIRT1268242	hsa-miR-4270	CLIP-seq
MIRT1268243	hsa-miR-4430	CLIP-seq
MIRT1268245	hsa-miR-4441	CLIP-seq
MIRT1268253	hsa-miR-4739	CLIP-seq
MIRT1268254	hsa-miR-4756-5p	CLIP-seq
MIRT1268255	hsa-miR-519a	CLIP-seq
MIRT1268256	hsa-miR-519b-3p	CLIP-seq
MIRT1268257	hsa-miR-519c-3p	CLIP-seq
MIRT1268261	hsa-miR-7	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017075	Function	Syntaxin-1 binding	ISS
GO:0030424	Component	Axon	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031629	Process	Synaptic vesicle fusion to presynaptic active zone membrane	IEA
GO:0031629	Process	Synaptic vesicle fusion to presynaptic active zone membrane	ISS
GO:0031982	Component	Vesicle	IEA
GO:0031982	Component	Vesicle	ISS
GO:0035544	Process	Negative regulation of SNARE complex assembly	IEA
GO:0035544	Process	Negative regulation of SNARE complex assembly	ISS
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043679	Component	Axon terminus	IEA
GO:0043679	Component	Axon terminus	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IMP	22101681
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	ISS
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0150037	Process	Regulation of calcium-dependent activation of synaptic vesicle fusion	IEA
GO:1905513	Process	Negative regulation of short-term synaptic potentiation	IEA
GO:1905513	Process	Negative regulation of short-term synaptic potentiation	ISS

MIM	HGNC	e!Ensembl
614386	30500	ENSG00000167371

Q7Z6L0

Protein name

Proline-rich transmembrane protein 2 (Dispanin subfamily B member 3) (DSPB3)

Protein function

As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04505	CD225	264 → 331	Interferon-induced transmembrane protein	Family

Sequence

MAASSSEISEMKGVEESPKVPGEGPGHSEAETGPPQVLAGVPDQPEAPQPGPNTTAAPVD
SGPKAGLAPETTETPAGASETAQATDLSLSPGGESKANCSPEDPCQETVSKPEVSKEATA
DQGSRLESAAPPEPAPEPAPQPDPRPDSQPTPKPALQPELPTQEDPTPEILSESVGEKQE
NGAVVPLQAGDGEEGPAPEPHSPPSKKSPPANGAPPRVLQQLVEEDRMRRAHSGHPGSPR
GSLSRHPSSQLAGPGVEGGEGTQKPRDYIILAILSCFCPMWPVNIVAFAYAVMSRNSLQQ
GDVDGAQRLGRVAKLLSIVALVGGVLIIIASCVINLGVYK

Sequence length

340

Interactions

View interactions

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)

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Benign familial neonatal-infantile seizures 1	Likely pathogenic; Pathogenic	rs587778771	RCV006253704	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Convulsions	Likely pathogenic; Pathogenic	rs587778771	RCV004798766	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Episodic kinesigenic dyskinesia	Likely pathogenic; Pathogenic	rs1220798796, rs2142427391, rs2142424961, rs2142425196, rs2142427166, rs1596893952, rs2142428932, rs2142425874, rs796052938, rs1217390170, rs2142423194, rs2142426594, rs906768870, rs1244255905, rs2142423439 View all (59 more)	RCV001372496 RCV001378291 RCV001382475 RCV001388476 RCV001390493 View all (74 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic kinesigenic dyskinesia 1	Pathogenic; Likely pathogenic	rs1403034524, rs2543334133, rs886042013, rs2466344219, rs2543333664, rs769519069, rs2543335595, rs2543335628, rs730882065, rs730882066, rs730882067, rs387907126, rs387907127, rs587778771, rs397514579 View all (5 more)	RCV002250268 RCV002289507 RCV002248505 RCV004796788 RCV003335790 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis	Likely pathogenic	rs796052938	RCV004671574	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile convulsions and choreoathetosis	Likely pathogenic; Pathogenic	rs1555502665, rs2466344219, rs2543332388, rs730882067, rs387907125, rs387907126, rs730882068, rs387907127, rs77838305, rs587778771, rs397514578, rs397514579, rs1567380076, rs1567379016, rs1596893952, rs1239450803 View all (1 more)	RCV002086748 RCV004796788 RCV003389297 RCV000024169 RCV000024170 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs587778771	RCV002273952	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal central nervous system disorders	Likely pathogenic; Pathogenic	rs587778771	RCV006272133	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Paroxysmal nonkinesigenic dyskinesia 1	Likely pathogenic; Pathogenic	rs587778771	RCV000991298	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRRT2 insufficiency	Likely pathogenic; Pathogenic	rs587778771	RCV001264813	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRRT2-associated paroxysmal movement disorder	Pathogenic; Likely pathogenic	rs730882067, rs77838305, rs587778771	RCV006249563 RCV004787889 RCV004786287	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRRT2-Associated Paroxysmal Movement Disorders	Likely pathogenic; Pathogenic	rs587778771	RCV001563615	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRRT2-related disorder	Likely pathogenic; Pathogenic	rs769519069, rs587778771, rs796052941	RCV004529839 RCV004532478 RCV002280097 RCV004545049	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs587778771, rs1900111672, rs796052938	RCV000193894 RCV001255706 RCV005624471	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizures, benign familial infantile, 2	Pathogenic; Likely pathogenic	rs1900052727, rs2142423353, rs1220798796, rs2543334077, rs730882124, rs2543333035, rs777959783, rs2543339445, rs2466344219, rs2543332388, rs1596893185, rs387907126, rs77838305, rs587778771, rs730882067 View all (7 more)	RCV001808942 RCV002290855 RCV002286491 RCV002290208 RCV000161142 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Self-limited familial infantile epilepsy	Likely pathogenic; Pathogenic	rs587778771	RCV002470742	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BENIGN FAMILIAL INFANTILE EPILEPSY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN FAMILIAL INFANTILE SEIZURES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET GLUT1 DEFICIENCY SYNDROME 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex febrile seizure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 18	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PAROXYSMAL DYSTONIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEMIPLEGIC MIGRAINE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPLEGIC MIGRAINE, WITHOUT MENTION OF INTRACTABLE MIGRAINE WITHOUT MENTION OF STATUS MIGRAINOSUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperactivity	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL EXERTION-INDUCED DYSKINESIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL KINESIGENIC CHOREOATHETOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL KINESIGENIC DYSKINESIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NON-KINESIGENIC DYSKINESIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NONKINESIGENIC DYSKINESIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Profound intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (397)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Actinic keratosis	Actinic keratosis	BEFREE	30944245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24990612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20200558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	21406403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	9639664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	23557915		★★★★★ ★☆☆☆☆ Found in Text Mining only
AL-RAQAD SYNDROME	AL-Raqad Syndrome	BEFREE	15751970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	10101252	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	17188679	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18336728, 19233276, 22916103, 28831118, 8063812, 9144240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29050205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29266405, 31817487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	37629005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	31051220		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Angioedema	Pubtator	11050091	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	30970525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	22845787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	14719189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	7547380	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18787303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	22830352, 28448991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19592494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial cardiomyopathy	Atrial cardiomyopathy	BEFREE	31735076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30496756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	33028764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	20200558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24594579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22949890	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	24594579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	21669868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21983831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Axenfeld-Rieger syndrome	Axenfeld anomaly	BEFREE	15751970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	12121879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	11532083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign familial infantile epilepsy	Epilepsy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign neonatal epilepsy	Benign Epilepsy	BEFREE	23077018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Rolandic Epilepsy	Benign Rolandic Epilepsy	BEFREE	26954261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	17208254, 32882578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	9077478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	20525309, 29436605, 31163690, 39913544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28585865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12841677, 16166314, 20099025, 26806619, 28190385, 28515445, 28755423, 30257985, 30446625, 31571495, 8320275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10047452, 1356626, 15498560, 19324060, 19324870, 19406749, 21720730, 23562764, 24753582, 28755423, 31979064, 34608498, 35298675, 36329884, 39219290, 7499402, 7560079 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	1712443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16940160, 19099253, 21832145, 23349696, 25225290, 36782184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	39311033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	19949911, 25289898, 25514221, 33307168, 9244191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18632643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21414654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	10737390, 18075299, 20459627, 9346879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21769085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23843242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	29234372		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	29176328	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	27557662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	27557662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25479336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATARACT, MARNER TYPE	Cataract	BEFREE	10082134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27094771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11642552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28500348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	31316180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	23077017, 23077024, 23077026, 23190448, 24594579, 36958475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	BEFREE	22243967, 22623405, 22845787, 23077016, 25403460, 26598493, 28397578, 29285950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	22877996, 25205014, 31154286, 31722684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12737946, 26910488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	19232344, 19506549, 19833168, 24914206, 25366420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	7999261, 8404381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	8913270, 9820166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11839557, 22543197, 25366420, 29408512, 31810137, 8404381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14527959, 15548175, 16984735, 19686845, 21951556, 27907910, 30289336, 31810137, 34903321, 35657974, 9166410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	19907076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11709417, 21666110, 29333637, 29396114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21233420, 27666332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29654769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	38293916, 40147550	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	32483284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	16327498, 26215868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26215868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	19573263	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31762213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	19573263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	23557915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24372385, 26993267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	25595153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29234372, 31743046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	15272035, 40298873	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15327405, 17579087, 25420887, 36736734, 38293916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28826907, 29234372, 31743046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26386696, 36736734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	27865779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	14636302, 30692925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	15327405, 26823823, 35844803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	21254925, 30930967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	24370076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25589617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	39913544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	26867511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	BEFREE	10577923, 15165638, 22209761, 22902309, 22985072, 23077017, 23077019, 23077024, 23190448, 23299620, 23398397, 24101679, 24594579, 26598494, 27098784, 31353980 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesias, Paroxysmal	Dyskinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	10323309, 11346027, 22120146, 29148542, 31353980, 31801583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	31801583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	31722684, 31731261, 35041927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	BEFREE	10766892		★★★★★ ★☆☆☆☆ Found in Text Mining only
DYSTONIA 18 (disorder)	Dystonia	ORPHANET_DG	22209761, 22902309, 23398397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	23418071, 23775978, 24136457, 26446061		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Musculorum Deformans	Dystonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia, Primary	Dystonia	BEFREE	23757263, 23775978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	23566103, 24101679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27907910, 8701784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15299092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	25522171, 32237035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	25794116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	23768507, 26561923, 26954261		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	22243967, 22845787, 23073245, 23077016, 23077018, 23131349, 23190448, 23768507, 23963607, 24101679, 24370076, 25194488, 26677014, 26876767, 27172900 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	22877996, 23190448, 24372385, 25522171, 29454195, 30977854, 32237035, 32246320, 34153113, 36775847, 36958475, 37884687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	GENOMICS_ENGLAND_DG	23126439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	23077026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	22845787, 22870186, 22877996, 23077017, 23077018, 23077024, 23566103, 24370076, 24886244, 25522171, 25794116, 29215089, 30125676, 30307717, 31154286 View all (7 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Rolandic	Rolandic epilepsy	Pubtator	24372385	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	31801583		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	25522171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic Ataxia	BEFREE	23077024, 23398397, 25194488, 26598494, 30501978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	23077024, 23126439, 33731672, 36441479, 36958475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 1	Episodic ataxia	BEFREE	11346027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	BEFREE	31353980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	18342628, 20158512, 22101681, 22131361, 22515636, 22623405, 22744660, 22752065, 22772876, 22845787, 22870186, 22875091, 22877996, 22902309, 22985072 View all (65 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	GENOMICS_ENGLAND_DG	22101681, 22399141, 22744660		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	CTD_human_DG	22101681		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	CLINVAR_DG	22101681, 22120146, 22131361, 22209761, 22243967, 22464846, 22744660, 22752065, 22782515, 22845787, 22902309, 23363396, 23768507, 24074546, 26598493, 28074849 View all (1 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	UNIPROT_DG	22101681, 22120146, 22131361, 22209761, 25915028, 27172900		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28771997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28771997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28771997	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	22930730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	10101252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	ORPHANET_DG	22243967, 22399141, 22623405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial benign neonatal epilepsy	Benign Epilepsy	BEFREE	22875091, 22877996, 22902309, 23073245, 23077019, 25457817, 25595153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	10766892, 26598494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial or sporadic hemiplegic migraine	Hemiplegic Migraine	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	22120146, 22131361, 22515636, 22752065, 22845787, 22870186, 22877996, 22985072, 23077017, 23077018, 23077024, 23126439, 23176561, 23363396, 23566103 View all (27 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Febrile Convulsions	Febrile seizures	BEFREE	22623405, 22875091, 23077026, 23190448, 23352743, 24101679, 25502464, 25522171, 25794116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	28286052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal Sensory Seizure	Focal Sensory Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	12951842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Fraser syndrome	Pubtator	25522171	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	9234795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	27323780		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	23073245, 23131349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	34438042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	9442092	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15095270, 18381383, 21358619, 23862765, 26243012, 27440273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy with Febrile Seizures Plus	Generalized Epilepsy With Febrile Seizures Plus	BEFREE	23077026, 25522171		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized Myotonia of Thomsen	Congenital myotonia	BEFREE	25205014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	10336429, 10806212, 15618223, 20669099, 28051998, 28714013, 29642372, 33916643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16331246, 16832347, 21040711, 21419810, 28550683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28550683	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16331246, 16832347, 21040711, 21419810, 28550683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	10848585, 11238734, 11483662, 12712458, 15842253, 18462865, 19176518, 27903982, 33721446, 8194597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	18508315, 20613874, 27903982, 28192116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	20375117, 28539358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	9864180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	12393454	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	16508638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25420887, 25771144, 33028764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	29396114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11709417, 21666110, 29333637, 29396114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	24356123, 24814372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine familial type 1	Hemiplegic migraine	Pubtator	30167989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	BEFREE	18949060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	37272842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	18328421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	30116406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10233166, 19279131, 28954262, 31743046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	18633117	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	22162761	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29032894, 29187383		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	30020825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	28843775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31197021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	27866837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	30293034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic Rickets	BEFREE	31484825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	34825477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34768826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29382817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile convulsions and choreoathetosis	Convulsions And Choreoathetosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	BEFREE	10766892, 11346027, 21060786, 22243967, 22832103, 22870186, 23077017, 23077024, 23299620, 24100940, 24755245, 25403460, 26561923, 26936445, 28192116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	CLINVAR_DG	22101681, 22120146, 22131361, 22209761, 26598493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	GENOMICS_ENGLAND_DG	22101681, 22399141, 22744660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	CLINGEN_DG	22101681, 22243967, 27172900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	UNIPROT_DG	22243967, 22832103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	ORPHANET_DG	22243967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	Infantile convulsions and choreoathetosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	25522171		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22830352, 30020825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23454694	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	23126439, 23398397, 23566103, 24594579, 26598493		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23126439		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	23126439, 23566103, 24594579	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interstitial Cystitis	Interstitial Cystitis	BEFREE	23077017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	19232344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28577718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	16166314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	30020825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	15327405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28539358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal dystonia	Laryngeal dystonia	BEFREE	23418071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10918054, 1530879, 15693136, 24334295, 32466311, 8340409, 9770354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17588800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11880362, 2175219, 8288641, 9858570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	32855276, 34536536, 36835239, 7912555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	9770354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10997964	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17255356, 24334295, 29127121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11642408		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	29633755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11682458, 23349696, 25724832, 26498639, 29528086, 30988374, 8138560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19333010	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	31401343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15379867, 21988336, 30715676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	31401343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	16431347, 31401343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	31401343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	10395944, 16155593, 22966169, 24518719	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	20976278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	29428215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12841677, 16166314, 16408291, 20099025, 26806619, 28190385, 28515445, 28755423, 30257985, 30446625, 31571495, 8320275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28771997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18632643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	8847210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23843242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19924022, 28826907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18778896, 21266973, 21406403, 26786102, 30226591, 31477269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31261030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	11994357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11190577, 12014641, 18632643, 18778896, 22549737, 23096778, 24030148, 24334295, 24705298, 25289898, 26989024, 27907910, 28190385, 28571764, 28756980, 29408512, 30226591, 31336725, 7747250 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19506549, 19833168, 24914206, 25366420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22511072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	30981159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12086864, 17426020, 18826602, 19099253, 19305641, 1988168, 22653968, 29048609, 35969127, 37474004, 37963252, 7678596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18826602, 25712345, 31356866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19099253, 39311033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	19233276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31762213		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	23126439		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	26300055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	25420887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29048609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	10766892, 22875091, 23077017, 23077024, 25522171, 26598494, 28007585, 29912316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	23077017, 23077024, 23077026, 25522171, 36958475	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	22845787, 23077017, 23077024, 23077026, 24370076, 24594579, 36441479, 37884687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	23077017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	23077017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	29849902, 35844803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	23418071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	22243967, 22515636, 23182655, 23963607, 26598493, 26876767, 27567459, 28525812, 30361137, 31353980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	22515636, 29167286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	GENOMICS_ENGLAND_DG	23126439		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14644994, 25781885, 26282073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17714780, 22435755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22830352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	8618832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	23426965	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30711624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	30395882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28777252, 31241168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29654769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	BEFREE	28777252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28903333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic Dystonia	BEFREE	22515636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	BEFREE	25205014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	25205014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	17936705, 19907076, 24179176, 24878509		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	17936705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	22845787, 31124310, 32237035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	11284734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30809095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	21629792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10593857, 11190577, 15095270, 16166314, 16408291, 18632643, 18778896, 21310943, 21822543, 22511072, 23200847, 24106905, 24371225, 24413085, 25366420 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	30020825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	36098890	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	23077024, 23343561, 25595153, 26954261, 28192116, 28482641, 29346777, 30980674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	22371354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	14655750, 18991684, 21315177, 21716262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18408015, 19077250, 23155231, 7815513, 8344386, 9601059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29329108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30573200, 30692925, 30773673		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18632643, 23303128, 31261030, 31410027		★★★★★ ★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	16832347		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23392873, 26386696, 26586913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28585197, 31630415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	10806048, 27072078, 28777797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19609857, 28339053		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23843242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10638963, 17341442, 17678893, 17724468, 23843242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	30116406		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19924022, 28826907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	28826907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21832145, 22848379, 25915428, 27641742, 30686807, 30904392, 9744505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28826907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23893446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	BEFREE	22101681, 22131361, 22515636, 22744660, 22877996, 22985072, 23077016, 23077018, 23131349, 23176561, 23182655, 23363396, 23398397, 23496026, 23771590 View all (21 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	CLINVAR_DG	22101681, 22243967, 22744660, 22832103, 22870186, 22877996, 23077016, 23077017, 23299620, 23352743, 23360469, 24370076, 24465263, 24661410, 24755245 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal kinesigenic choreoathetosis	Paroxysmal kinesigenic choreoathetosis	ORPHANET_DG	23398397		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal kinesigenic dyskinesia	Paroxysmal Kinesigenic Dyskinesia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal non-kinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	ORPHANET_DG	22209761, 22902309, 23398397		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	BEFREE	24370076		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	24370076, 32237035	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal nonkinesigenic dyskinesia	CLINVAR_DG	22101681, 26598493		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pemphigus	Pemphigus	BEFREE	24711455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	24711455, 25010392, 9077478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus Foliaceus	Pemphigus Foliaceus	BEFREE	28620161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	11673479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	11673479, 30926374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	11673479, 30926374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	10079254, 8434650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	18949060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	33826176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18778896, 21266973, 21406403, 26786102, 30226591, 31477269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	7545097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12824193, 16183650, 19029835, 23380421, 23826267, 25281873, 26786102, 26799186, 27902483, 27907910, 36550208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	1431218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	37128643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22192844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	29633755	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21233420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	17122966, 18632643, 22830352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	BEFREE	26867511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	31959813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	16447227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	23077018, 23190448, 23566103, 24370076, 25982755, 31154286, 32237035, 35715422, 36775847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	23077018, 23077026, 23190448, 25522171, 32237035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SEIZURES, BENIGN FAMILIAL INFANTILE, 2	Seizure	GENOMICS_ENGLAND_DG	22101681, 22399141, 22744660		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 2	Seizure	CLINVAR_DG	22101681, 22120146, 22131361, 22209761, 26598493		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 2	Seizure	UNIPROT_DG	22243967, 22399141, 22623405		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 2	Seizure	BEFREE	22399141		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 2	Seizure	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SEIZURES, BENIGN FAMILIAL INFANTILE, 3	Seizure	BEFREE	22399141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29617417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	19112100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	36232814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	1431218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	8138560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	27534449	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	33826176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16374540, 8847210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27481515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21281788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30573200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17393422, 31261030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10027304, 12046066, 12439916, 25724188, 28460635, 28627240	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	16447227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	11023512, 23542698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11994357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11994357		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28388298, 28515445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	8969921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	27907910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24528886, 26987391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29610452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	15823124	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	22253748, 22653968, 35352024	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	24413085, 30525429		★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	27980071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19955485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	24396568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasospasm Intracranial	Intracranial vasospasm	Pubtator	31595394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	28822034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	31484825		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	24101679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Writer`s Cramp	Writer`s Cramp	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum variant type	Xeroderma pigmentosum	Pubtator	18946034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRRT2 (proline rich transmembrane protein 2)