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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8131
Gene name	NPR3 like, GATOR1 complex subunit
Gene symbol	NPRL3
Synonyms (NCBI Gene)	C16orf35CGTHBAFFEVF3HS-40MARENPR3RMD11
Chromosome	16
Chromosome location	16p13.3
Summary	The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs886037958	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886037959	CTGT>GGATGGGTCA	Pathogenic	Splice acceptor variant, intron variant
rs886037960	->TG	Pathogenic	Frameshift variant, coding sequence variant
rs886037961	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs886037962	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1021001959	G>A,C	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, synonymous variant
rs1064795838	C>A	Likely-pathogenic	Intron variant, splice acceptor variant
rs1431914212	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1555441032	->TG	Pathogenic	Frameshift variant, coding sequence variant
rs1555443191	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555444207	G>C	Pathogenic	Stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs1567129567	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1567129739	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567134495	C>A	Likely-pathogenic	Splice donor variant
rs1567139896	ACAG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1567142752	T>A	Likely-pathogenic	Intron variant, splice acceptor variant
rs1567152003	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1596500172	G>C	Pathogenic	Coding sequence variant, stop gained
rs1596522300	C>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1596522356	C>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1596526915	A>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596526976	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596528731	G>A	Likely-pathogenic	Intron variant, coding sequence variant, stop gained

100

Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051275	hsa-miR-16-5p	CLASH	23622248
MIRT039648	hsa-miR-615-3p	CLASH	23622248
MIRT639720	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT639719	hsa-miR-1248	HITS-CLIP	23824327
MIRT639718	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT639717	hsa-miR-4297	HITS-CLIP	23824327
MIRT639716	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT639715	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT639714	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT639713	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT639712	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT639711	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT495293	hsa-miR-6785-3p	PAR-CLIP	23708386
MIRT495294	hsa-miR-205-5p	PAR-CLIP	23708386
MIRT495292	hsa-miR-6788-3p	PAR-CLIP	23708386
MIRT639720	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT639719	hsa-miR-1248	HITS-CLIP	23824327
MIRT639718	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT639717	hsa-miR-4297	HITS-CLIP	23824327
MIRT639716	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT639715	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT639714	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT639713	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT639712	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT639711	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT495293	hsa-miR-6785-3p	PAR-CLIP	23708386
MIRT495294	hsa-miR-205-5p	PAR-CLIP	23708386
MIRT495292	hsa-miR-6788-3p	PAR-CLIP	23708386
MIRT1191273	hsa-miR-1184	CLIP-seq
MIRT1191274	hsa-miR-1205	CLIP-seq
MIRT1191275	hsa-miR-1273d	CLIP-seq
MIRT1191276	hsa-miR-2277-3p	CLIP-seq
MIRT1191277	hsa-miR-3158-5p	CLIP-seq
MIRT1191278	hsa-miR-3194-3p	CLIP-seq
MIRT1191279	hsa-miR-3194-5p	CLIP-seq
MIRT1191280	hsa-miR-3914	CLIP-seq
MIRT1191281	hsa-miR-4268	CLIP-seq
MIRT1191282	hsa-miR-4283	CLIP-seq
MIRT1191283	hsa-miR-4307	CLIP-seq
MIRT1191284	hsa-miR-4420	CLIP-seq
MIRT1191285	hsa-miR-4508	CLIP-seq
MIRT1191286	hsa-miR-4640-5p	CLIP-seq
MIRT1191287	hsa-miR-4662a-5p	CLIP-seq
MIRT1191288	hsa-miR-4676-5p	CLIP-seq
MIRT1191289	hsa-miR-4688	CLIP-seq
MIRT1191290	hsa-miR-4726-5p	CLIP-seq
MIRT1191291	hsa-miR-4733-3p	CLIP-seq
MIRT1191292	hsa-miR-4777-5p	CLIP-seq
MIRT1191293	hsa-miR-4781-5p	CLIP-seq
MIRT1191294	hsa-miR-518d-5p	CLIP-seq
MIRT1191295	hsa-miR-519b-5p	CLIP-seq
MIRT1191296	hsa-miR-519c-5p	CLIP-seq
MIRT1191297	hsa-miR-520c-5p	CLIP-seq
MIRT1191298	hsa-miR-526a	CLIP-seq
MIRT1191299	hsa-miR-548a-3p	CLIP-seq
MIRT1191300	hsa-miR-548e	CLIP-seq
MIRT1191301	hsa-miR-548f	CLIP-seq
MIRT1191302	hsa-miR-548g	CLIP-seq
MIRT1191303	hsa-miR-550a	CLIP-seq
MIRT1191304	hsa-miR-575	CLIP-seq
MIRT1191305	hsa-miR-744	CLIP-seq
MIRT1191306	hsa-miR-760	CLIP-seq
MIRT1191276	hsa-miR-2277-3p	CLIP-seq
MIRT1191278	hsa-miR-3194-3p	CLIP-seq
MIRT1191307	hsa-miR-3616-3p	CLIP-seq
MIRT1191282	hsa-miR-4283	CLIP-seq
MIRT1191308	hsa-miR-4323	CLIP-seq
MIRT1191309	hsa-miR-4436b-3p	CLIP-seq
MIRT1191285	hsa-miR-4508	CLIP-seq
MIRT1191289	hsa-miR-4688	CLIP-seq
MIRT1191291	hsa-miR-4733-3p	CLIP-seq
MIRT1191310	hsa-miR-4758-3p	CLIP-seq
MIRT1191293	hsa-miR-4781-5p	CLIP-seq
MIRT1191305	hsa-miR-744	CLIP-seq
MIRT1191306	hsa-miR-760	CLIP-seq
MIRT2055402	hsa-miR-125a-3p	CLIP-seq
MIRT2055403	hsa-miR-3121-3p	CLIP-seq
MIRT2055404	hsa-miR-3127-5p	CLIP-seq
MIRT2055405	hsa-miR-3130-3p	CLIP-seq
MIRT2055406	hsa-miR-3158-3p	CLIP-seq
MIRT2055407	hsa-miR-3189-5p	CLIP-seq
MIRT1191279	hsa-miR-3194-5p	CLIP-seq
MIRT2055408	hsa-miR-3918	CLIP-seq
MIRT2055409	hsa-miR-3925-3p	CLIP-seq
MIRT2055410	hsa-miR-4436a	CLIP-seq
MIRT1191286	hsa-miR-4640-5p	CLIP-seq
MIRT2055411	hsa-miR-4655-3p	CLIP-seq
MIRT2055412	hsa-miR-4690-3p	CLIP-seq
MIRT2055413	hsa-miR-4690-5p	CLIP-seq
MIRT1191290	hsa-miR-4726-5p	CLIP-seq
MIRT1191310	hsa-miR-4758-3p	CLIP-seq
MIRT2055414	hsa-miR-4793-3p	CLIP-seq
MIRT2055415	hsa-miR-515-5p	CLIP-seq
MIRT2055416	hsa-miR-544	CLIP-seq
MIRT2055417	hsa-miR-766	CLIP-seq
MIRT2284393	hsa-miR-3185	CLIP-seq
MIRT2284394	hsa-miR-3192	CLIP-seq
MIRT2284395	hsa-miR-3689a-3p	CLIP-seq
MIRT2284396	hsa-miR-3689c	CLIP-seq
MIRT2284397	hsa-miR-4728-5p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003281	Process	Ventricular septum development	IEA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	19521502, 28199315, 28514442, 33961781
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	28199306
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	NAS	23723238
GO:0005765	Component	Lysosomal membrane	TAS
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0016020	Component	Membrane	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0034198	Process	Cellular response to amino acid starvation	IBA
GO:0034198	Process	Cellular response to amino acid starvation	IDA	29590090, 35338845
GO:0034198	Process	Cellular response to amino acid starvation	IMP	23723238
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:1904262	Process	Negative regulation of TORC1 signaling	IBA
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	29590090, 35338845
GO:1904262	Process	Negative regulation of TORC1 signaling	NAS	23723238
GO:1990130	Component	GATOR1 complex	IBA
GO:1990130	Component	GATOR1 complex	IDA	29590090, 35338845
GO:1990130	Component	GATOR1 complex	IPI	25263562

MIM	HGNC	e!Ensembl
600928	14124	ENSG00000103148

Q12980

Protein name

GATOR1 complex protein NPRL3 (-14 gene protein) (Alpha-globin regulatory element-containing gene protein) (Nitrogen permease regulator 3-like protein) (Protein CGTHBA)

Protein function

As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:29590090, PubMed:35338845). In response to amino acid depletion, the GATOR1 complex has GTPase activat

PDB

6CES , 6CET , 7T3A , 7T3B , 7T3C , 8FW5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03666	NPR3	63 → 112	Nitrogen Permease regulator of amino acid transport activity 3	Family
PF03666	NPR3	101 → 418	Nitrogen Permease regulator of amino acid transport activity 3	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in the frontal lobe cortex as well as in the temporal, parietal, and occipital lobes (PubMed:26505888, PubMed:27173016). {ECO:0000269|PubMed:26505888, ECO:0000269|PubMed:27173016}.

Sequence

MRDNTSPISVILVSSGSRGNKLLFRYPFQRSQEHPASQTSKPRSRYAASNTGDHADEQDG
DSRFSDVILATILATKSEMCGQKFELKIDNVRFVGHPTLLQHALGQISKTDPSPKREAPT
MILFNVVFALRANADPSVINCLHNLSRRIATVLQHEERRCQYLTREAKLILALQDEVSAM
ADGNEGPQSPFHHILPKCKLARDLKEAYDSLCTSGVVRLHINSWLEVSFCLPHKIHYAAS
SLIPPEAIERSLKAIRPYHALLLLSDEKSLLGELPIDCSPALVRVIKTTSAVKNLQQLAQ
DADLALLQVFQLAAHLVYWGKAIIIYPLCENNVYMLSPNASVCLYSPLAEQFSHQFPSHD
LPSVLAKFSLPVSLSEFRNPLAPAVQETQLIQMVVWMLQRRLLIQLHTYVCLMASPSEEE
PRPREDDVPFTARVGGRSLSTPNALSFGSPTSSDDMTLTSPSMDNSSAELLPSGDSPLNQ
RMTENLLASLSEHERAAILSVPAAQNPEDLRMFARLLHYFRGRHHLEEIMYNENTRRSQL
LMLFDKFRSVLVVTTHEDPVIAVFQALLP

Sequence length

569

Interactions

View interactions

	KEGG		Reactome
	mTOR signaling pathway		Amino acids regulate mTORC1

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Likely pathogenic	rs1064795838	RCV005931688	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, familial focal, with variable foci 1	Likely pathogenic; Pathogenic	rs2542826606	RCV005248837	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, familial focal, with variable foci 3	Pathogenic; Likely pathogenic	rs1900184374, rs2141960559, rs1431914212, rs2141925225, rs2141946070, rs2141950212, rs2141960699, rs2141995568, rs2141902592, rs2141908063, rs2141907691, rs1288771812, rs1215657187, rs2141950334, rs2141920098 View all (78 more)	RCV001841203 RCV001377325 RCV001379629 RCV001381965 RCV001380826 View all (91 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1567139896	RCV001255356	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs1567134495	RCV002275119	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nocturnal frontal lobe epilepsy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PARTIAL, WITH VARIABLE FOCI	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial focal epilepsy with variable foci	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial temporal lobe epilepsy 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal epilepsy	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NPRL3-related disorder	Likely benign; Uncertain significance; not provided; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICKLE CELL ANEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (126)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31102956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29843922, 29912438		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	10910890, 32720864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha-Thalassemia	alpha Thalassemia	BEFREE	10910890		★★★★★ ★☆☆☆☆ Found in Text Mining only
alpha^+^ Thalassemia	alpha Thalassemia	BEFREE	10910890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	37800807	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	32720864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hypochromic	Hypochromic anemia	Pubtator	32720864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia hypochromic microcytic	Hypochromic microcytic anemia	Pubtator	32720864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	23406172, 29590102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	GWASCAT_DG	23406172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	GENOMICS_ENGLAND_DG	10468599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30781751, 30969098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27101299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30781751, 30969098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	32431194	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27903079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33110086, 35558081, 37076508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bundle-Branch Block	Bundle Branch Block	BEFREE	30031719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	30032985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	30032985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	30032985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	21909115, 29040610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22995222, 29040610, 30586761, 30903134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37101178	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
CATSHL syndrome	Catshl syndrome	Pubtator	30032985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	22559095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	22559095, 22995222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	22995222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29843922, 29912438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31411705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	27125248	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28162021, 29261789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29261789, 30114690, 30537927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital secretory diarrhea, sodium type (disorder)	Congenital secretory diarrhea	BEFREE	25994218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28738523, 29326144, 29728596, 30903134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	27191271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	25740055, 27191271, 37101178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	27191271, 31102956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	27191271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	BEFREE	26786403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22436048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28902124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30118317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21464461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21464461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17463246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21464461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	22436048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea 3 Secretory Sodium Congenital	Congenital secretory diarrhea	Pubtator	25994218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34970268	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	36639812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	26285051, 26505888, 26786403, 27173016, 30427063, 31639411		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	26786403, 27323939, 31625153		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	26786403, 30093711, 36639812	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Nocturnal Frontal Lobe Type 1	Nocturnal frontal lobe epilepsy	Pubtator	26786403	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Partial with Variable Foci	Progressive myoclonic epilepsy	Pubtator	37099548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3	Epilepsy	CLINVAR_DG	26285051, 26505888		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3	Epilepsy	UNIPROT_DG	26285051, 26505888, 27173016		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3	Epilepsy	GENOMICS_ENGLAND_DG	27173016		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, Partial, with Variable Foci	Epilepsy	ORPHANET_DG	26505888, 27173016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Partial, with Variable Foci	Epilepsy	BEFREE	31111464		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Partial, with Variable Foci	Epilepsy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophagitis	Esotropia	Pubtator	22436048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15785005, 25366732, 26782497, 28497617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	15785005, 25366732, 26782497, 32555714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	12614224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial focal epilepsy with variable foci	Epilepsy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	26285051, 31625153, 31639411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	27173016, 31639411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia type IIa	Focal cortical dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	BEFREE	29563144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	27125248	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	28255961, 29563144, 31611814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	29261789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	29261789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30032985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hb H disease	Hemoglobin H disease	BEFREE	20580289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	25736855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	24983826, 25117468, 37101178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28738523, 29728596, 30903134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	31111464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	23406172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	23406172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary bundle branch system defect	Hereditary Bundle Branch System Defect	BEFREE	30031719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	27101299	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	15785005, 22559095, 26782497, 29040610	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	29979625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15785005, 22559095, 22995222, 26345810, 26782497, 29040610, 30781751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotension Orthostatic	Orthostatic hypotension	Pubtator	22504314	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	32720864	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30353760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	29784661, 30550753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	22559095, 22995222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	31411705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Bundle-Branch Block	Left Bundle-Branch Block	BEFREE	30031719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	29481864, 31625153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	29481864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	19208208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29261789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20823417, 29843922, 29912438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	20823417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28743802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	27101299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25736855, 29728596, 30903134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28162021, 30131940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29481864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis, Type 3, mixed central and peripheral	Neurofibromatosis	BEFREE	26430762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	14981229, 15785005, 23493048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30586761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	BEFREE	30586761		★★★★★ ★☆☆☆☆ Found in Text Mining only
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	Bartsocas-Papas syndrome	BEFREE	29784661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	19208208		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	21464461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	39950246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	31266462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	27903079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	37099548	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29634521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31686456		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33316777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37101178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thalassemia	Thalassemia	Pubtator	34690349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric syndrome	Pubtator	22436048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction	Ventricular dysfunction	Pubtator	19326473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	24465655, 25117468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NPRL3 (NPR3 like, GATOR1 complex subunit)