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	378884
Gene name	NHL repeat containing E3 ubiquitin protein ligase 1
Gene symbol	NHLRC1
Synonyms (NCBI Gene)	EPM2AEPM2BMALINMELF2bA204B7.2
Chromosome	6
Chromosome location	6p22.3
Summary	The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclo

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28940575	A>T	Pathogenic	Missense variant, coding sequence variant
rs28940576	G>C	Pathogenic	Missense variant, coding sequence variant
rs121917875	G>A,C,T	Pathogenic	Missense variant, stop gained, coding sequence variant, synonymous variant
rs121917876	A>T	Pathogenic	Missense variant, coding sequence variant
rs137852859	T>G	Pathogenic	Missense variant, coding sequence variant
rs139029314	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs140850172	A>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143537405	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146636139	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200201752	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs200595273	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587776542	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776543	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs750465793	G>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs757954108	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs769301934	C>T	Pathogenic	Coding sequence variant, missense variant
rs794726964	C>A	Pathogenic	Stop gained, coding sequence variant
rs796052758	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1157872508	A>-,AA	Pathogenic	Stop gained, coding sequence variant, frameshift variant
rs1369766718	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1403101337	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1554136433	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554136440	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1582030118	GCGCGCAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments
MIRT1184312	hsa-miR-101	CLIP-seq
MIRT1184313	hsa-miR-1285	CLIP-seq
MIRT1184314	hsa-miR-151-5p	CLIP-seq
MIRT1184315	hsa-miR-151b	CLIP-seq
MIRT1184316	hsa-miR-224	CLIP-seq
MIRT1184317	hsa-miR-3131	CLIP-seq
MIRT1184318	hsa-miR-3187-5p	CLIP-seq
MIRT1184319	hsa-miR-3190	CLIP-seq
MIRT1184320	hsa-miR-3202	CLIP-seq
MIRT1184321	hsa-miR-3659	CLIP-seq
MIRT1184322	hsa-miR-3664-3p	CLIP-seq
MIRT1184323	hsa-miR-3672	CLIP-seq
MIRT1184324	hsa-miR-3689a-3p	CLIP-seq
MIRT1184325	hsa-miR-3689c	CLIP-seq
MIRT1184326	hsa-miR-3929	CLIP-seq
MIRT1184327	hsa-miR-421	CLIP-seq
MIRT1184328	hsa-miR-4281	CLIP-seq
MIRT1184329	hsa-miR-4419b	CLIP-seq
MIRT1184330	hsa-miR-4433	CLIP-seq
MIRT1184331	hsa-miR-4459	CLIP-seq
MIRT1184332	hsa-miR-4478	CLIP-seq
MIRT1184333	hsa-miR-4533	CLIP-seq
MIRT1184334	hsa-miR-4536	CLIP-seq
MIRT1184335	hsa-miR-4643	CLIP-seq
MIRT1184336	hsa-miR-4645-3p	CLIP-seq
MIRT1184337	hsa-miR-4658	CLIP-seq
MIRT1184338	hsa-miR-466	CLIP-seq
MIRT1184339	hsa-miR-4680-5p	CLIP-seq
MIRT1184340	hsa-miR-4709-5p	CLIP-seq
MIRT1184341	hsa-miR-4728-5p	CLIP-seq
MIRT1184342	hsa-miR-4768-3p	CLIP-seq
MIRT1184343	hsa-miR-4786-5p	CLIP-seq
MIRT1184344	hsa-miR-4789-3p	CLIP-seq
MIRT1184345	hsa-miR-485-5p	CLIP-seq
MIRT1184346	hsa-miR-510	CLIP-seq
MIRT1184347	hsa-miR-548u	CLIP-seq
MIRT1184348	hsa-miR-574-5p	CLIP-seq
MIRT1184349	hsa-miR-611	CLIP-seq
MIRT1184350	hsa-miR-612	CLIP-seq
MIRT1184351	hsa-miR-661	CLIP-seq
MIRT1184352	hsa-miR-769-5p	CLIP-seq
MIRT1184353	hsa-miR-890	CLIP-seq
MIRT2053448	hsa-miR-1183	CLIP-seq
MIRT1184324	hsa-miR-3689a-3p	CLIP-seq
MIRT1184325	hsa-miR-3689c	CLIP-seq
MIRT1184341	hsa-miR-4728-5p	CLIP-seq
MIRT2053449	hsa-miR-4738-3p	CLIP-seq
MIRT2053450	hsa-miR-548g	CLIP-seq
MIRT1184353	hsa-miR-890	CLIP-seq
MIRT1184322	hsa-miR-3664-3p	CLIP-seq
MIRT1184324	hsa-miR-3689a-3p	CLIP-seq
MIRT1184325	hsa-miR-3689c	CLIP-seq
MIRT2282663	hsa-miR-4452	CLIP-seq
MIRT2282664	hsa-miR-4727-5p	CLIP-seq
MIRT1184341	hsa-miR-4728-5p	CLIP-seq
MIRT2282665	hsa-miR-4769-3p	CLIP-seq
MIRT1184346	hsa-miR-510	CLIP-seq
MIRT1184351	hsa-miR-661	CLIP-seq
MIRT2391538	hsa-miR-1229	CLIP-seq
MIRT2391539	hsa-miR-1262	CLIP-seq
MIRT2391540	hsa-miR-193a-5p	CLIP-seq
MIRT2391541	hsa-miR-3130-3p	CLIP-seq
MIRT1184322	hsa-miR-3664-3p	CLIP-seq
MIRT1184323	hsa-miR-3672	CLIP-seq
MIRT1184324	hsa-miR-3689a-3p	CLIP-seq
MIRT1184325	hsa-miR-3689c	CLIP-seq
MIRT2391542	hsa-miR-4264	CLIP-seq
MIRT2391543	hsa-miR-4328	CLIP-seq
MIRT1184330	hsa-miR-4433	CLIP-seq
MIRT1184331	hsa-miR-4459	CLIP-seq
MIRT2391544	hsa-miR-4701-3p	CLIP-seq
MIRT1184341	hsa-miR-4728-5p	CLIP-seq
MIRT1184342	hsa-miR-4768-3p	CLIP-seq
MIRT2391545	hsa-miR-4793-3p	CLIP-seq
MIRT2391546	hsa-miR-4797-3p	CLIP-seq
MIRT2391547	hsa-miR-508-5p	CLIP-seq
MIRT2391548	hsa-miR-542-3p	CLIP-seq
MIRT2391549	hsa-miR-544	CLIP-seq
MIRT1184351	hsa-miR-661	CLIP-seq
MIRT2391550	hsa-miR-766	CLIP-seq
MIRT2282664	hsa-miR-4727-5p	CLIP-seq
MIRT2282665	hsa-miR-4769-3p	CLIP-seq
MIRT2282664	hsa-miR-4727-5p	CLIP-seq
MIRT2282665	hsa-miR-4769-3p	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IDA	15930137
GO:0004842	Function	Ubiquitin-protein transferase activity	EXP	15930137
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	15930137, 18070875
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	15930137, 17908927, 21505799, 22578008, 22961547, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17908927
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	TAS
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031396	Process	Regulation of protein ubiquitination	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	15930137
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IEA

MIM	HGNC	e!Ensembl
608072	21576	ENSG00000187566

Q6VVB1

Protein name

E3 ubiquitin-protein ligase NHLRC1 (EC 2.3.2.27) (Malin) (NHL repeat-containing protein 1) (RING-type E3 ubiquitin transferase NHLRC1)

Protein function

E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellula

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14634	zf-RING_5	25 → 73	zinc-RING finger domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, cerebellum, spinal cord, medulla, heart, liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:12958597}.

Sequence

MAAEASESGPALHELMREAEISLLECKVCFEKFGHRQQRRPRNLSCGHVVCLACVAALAH
PRTLALECPFCRRACRGCDTSDCLPVLHLIELLGSALRQSPAAHRAAPSAPGALTCHHTF
GGWGTLVNPTGLALCPKTGRVVVVHDGRRRVKIFDSGGGCAHQFGEKGDAAQDIRYPVDV
TITNDCHVVVTDAGDRSIKVFDFFGQIKLVIGGQFSLPWGVETTPQNGIVVTDAEAGSLH
LLDVDFAEGVLRRTERLQAHLCNPRGVAVSWLTGAIAVLEHPLALGTGVCSTRVKVFSSS
MQLVGQVDTFGLSLYFPSKITASAVTFDHQGNVIVADTSGPAILCLGKPEEFPVPKPMVT
HGLSHPVALTFTKENSLLVLDTASHSIKVYKVDWG

Sequence length

395

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Glycogen synthesis Myoclonic epilepsy of Lafora

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lafora disease	Pathogenic; Likely pathogenic	rs1783750860, rs1362520746, rs2150702964, rs2150703022, rs967125703, rs769144119, rs1217276014, rs1193841505, rs200559475, rs769301934, rs28940575, rs28940576, rs587776542, rs121917876, rs950907157 View all (16 more)	RCV001330611 RCV001381622 RCV001384327 RCV001730042 RCV001799565 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myoclonic epilepsy of Lafora 1	Pathogenic	rs28940576	RCV005632153	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonic epilepsy of Lafora 2	Likely pathogenic; Pathogenic	rs769301934, rs28940575, rs28940576, rs587776542, rs587776543, rs121917875, rs121917876, rs137852859, rs750465793, rs780082503	RCV003989327 RCV000002704 RCV000002705 RCV000002706 RCV000002707 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NHLRC1-related disorder	Pathogenic	rs28940576	RCV003952338	★★★★★ ★★★★☆ 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.
BILIARY TRACT CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 2B	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOCELLULAR CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Action Myoclonus-Renal Failure Syndrome	Action Myoclonus-Renal Failure Syndrome	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atkin syndrome	Atkin-Flaitz syndrome	BEFREE	30049290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Inclusion-Body Disease	Inclusion-Body Disease	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	27348205, 28277316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	12019207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizure with impairment of consciousness	Dyscognitive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	12019207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	34329319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34329319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	12019207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	20152902, 25538239, 35569391	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	12019207, 12958597, 21652633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	18263761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27514803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, PROGRESSIVE MYOCLONIC 2B	Myoclonic Epilepsy	BEFREE	27702709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 2B	Myoclonic Epilepsy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Rolandic	Epilepsy	CLINVAR_DG	29358611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Progressive Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized tonic-clonic seizures with focal onset	Bilateral convulsive seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	12019207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	19087113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	11579433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lafora Body Disease, Late Onset	Lafora Disease	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	10092504, 10668720, 10932264, 11001928, 11175283, 11483392, 11579433, 11739371, 12019207, 12560877, 12915448, 12958597, 12960212, 14532330, 14643920 View all (76 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora Disease	Lafora Disease	GENOMICS_ENGLAND_DG	10932264, 11175283, 12958597, 14722920, 15781812, 21376300, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora Disease	Lafora Disease	UNIPROT_DG	11001928, 11175283, 11739371, 12019207, 12560877, 12958597, 14532330, 14706656, 14722920, 15009235, 15781812, 15930137, 16021330, 18311786, 21505799, 25544560, 26231210, 9771710, 9931343 View all (4 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora Disease	Lafora Disease	CLINVAR_DG	11175283, 12019207, 12958597, 12960212, 15781812, 15930137, 16134145, 16190947, 16311711, 16529633, 16950819, 17952067, 18029386, 18256682, 18263761 View all (7 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora Disease	Lafora disease	Pubtator	12960212, 15781812, 15930137, 16190947, 16529633, 16650146, 16950819, 17452581, 17509003, 19322595, 19744044, 20152902, 20738377, 21728993, 21738631 View all (18 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora Disease	Lafora Disease	LHGDN	15781812, 16971387, 17337485, 17509003, 18311786		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora disease	Lafora Disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora Disease	Lafora Disease	ORPHANET_DG	22047982, 22669944		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lafora Disease	Lafora Disease	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Learning Disorders	Learning Disorders	BEFREE	12019207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	17452581	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36142605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16959610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18519661		★★★★★ ★☆☆☆☆ Found in Text Mining only
May-White Syndrome	May-White Syndrome	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	11579433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	10092504, 10932264, 11001928, 11175283, 11739371, 12782127, 12958597, 15102711, 17452581, 18617530, 20738377, 21555062, 23408434, 27092952, 27702709, 9931343 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CLINVAR_DG	14722920, 21623095, 25246353, 9771710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	LHGDN	18617530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	12019207, 26578817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16959610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	15930137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11739371, 19036738, 19892702, 21652633, 22036712, 30049290, 30336494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	GWASCAT_DG	30201983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	12019207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	19087113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27092952		★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple partial occipital seizures	Partial Occipital Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	11579433, 19087113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual auras	Visual auras	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1)