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	90678
Gene name	Leucine rich repeat and sterile alpha motif containing 1
Gene symbol	LRSAM1
Synonyms (NCBI Gene)	CMT2PRIFLETAL
Chromosome	9
Chromosome location	9q33.3-q34.11
Summary	This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gen

Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs56380300	A>G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, non coding transcript variant, coding sequence variant
rs117692127	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs138226428	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs148059394	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs151323851	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs387907032	G>A,C	Pathogenic	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs746455518	T>C,G	Likely-pathogenic	Splice donor variant
rs749012928	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs756880678	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs759312530	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs775965001	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786200930	->GC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876661208	TGGAGGTGCAGGC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs876661247	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879253755	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs879254056	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886041051	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1315010600	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1345228128	C>G,T	Pathogenic	Non coding transcript variant, stop gained, 5 prime UTR variant, synonymous variant, coding sequence variant
rs1554763035	A>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564287871	->CCACTGCGCACCTGCCCGCTGTGCCGCCAG	Pathogenic	Non coding transcript variant, coding sequence variant, inframe insertion
rs1588132672	AG>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant

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Show/Hide all (123)

miRTarBase ID	miRNA	Experiments	Reference
MIRT718866	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT718865	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT718864	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT718863	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT718862	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT718861	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT718860	hsa-miR-4287	HITS-CLIP	19536157
MIRT718859	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT718858	hsa-miR-1976	HITS-CLIP	19536157
MIRT718857	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT718856	hsa-miR-4290	HITS-CLIP	19536157
MIRT718855	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT718854	hsa-miR-188-3p	HITS-CLIP	19536157
MIRT718853	hsa-miR-1260a	HITS-CLIP	19536157
MIRT718852	hsa-miR-1260b	HITS-CLIP	19536157
MIRT718851	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT718850	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT718866	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT718865	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT718864	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT718863	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT718862	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT718861	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT718860	hsa-miR-4287	HITS-CLIP	19536157
MIRT718859	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT718858	hsa-miR-1976	HITS-CLIP	19536157
MIRT718857	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT718856	hsa-miR-4290	HITS-CLIP	19536157
MIRT718855	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT718854	hsa-miR-188-3p	HITS-CLIP	19536157
MIRT718853	hsa-miR-1260a	HITS-CLIP	19536157
MIRT718852	hsa-miR-1260b	HITS-CLIP	19536157
MIRT718851	hsa-miR-3156-3p	HITS-CLIP	19536157
MIRT718850	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT1121126	hsa-miR-1285	CLIP-seq
MIRT1121127	hsa-miR-1343	CLIP-seq
MIRT1121128	hsa-miR-2110	CLIP-seq
MIRT1121129	hsa-miR-3179	CLIP-seq
MIRT1121130	hsa-miR-3187-5p	CLIP-seq
MIRT1121131	hsa-miR-3202	CLIP-seq
MIRT1121132	hsa-miR-34a	CLIP-seq
MIRT1121133	hsa-miR-34c-5p	CLIP-seq
MIRT1121134	hsa-miR-4271	CLIP-seq
MIRT1121135	hsa-miR-4283	CLIP-seq
MIRT1121136	hsa-miR-4488	CLIP-seq
MIRT1121137	hsa-miR-449a	CLIP-seq
MIRT1121138	hsa-miR-449b	CLIP-seq
MIRT1121139	hsa-miR-4697-5p	CLIP-seq
MIRT1121140	hsa-miR-4725-3p	CLIP-seq
MIRT1121141	hsa-miR-4747-5p	CLIP-seq
MIRT1121142	hsa-miR-491-5p	CLIP-seq
MIRT1121143	hsa-miR-612	CLIP-seq
MIRT1121144	hsa-miR-1255a	CLIP-seq
MIRT1121145	hsa-miR-1255b	CLIP-seq
MIRT1121146	hsa-miR-185	CLIP-seq
MIRT1121147	hsa-miR-221	CLIP-seq
MIRT1121148	hsa-miR-222	CLIP-seq
MIRT1121149	hsa-miR-2278	CLIP-seq
MIRT1121150	hsa-miR-296-5p	CLIP-seq
MIRT1121151	hsa-miR-3126-5p	CLIP-seq
MIRT1121152	hsa-miR-3150b-3p	CLIP-seq
MIRT1121153	hsa-miR-3173-3p	CLIP-seq
MIRT1121154	hsa-miR-3663-3p	CLIP-seq
MIRT1121155	hsa-miR-4306	CLIP-seq
MIRT1121156	hsa-miR-4428	CLIP-seq
MIRT1121157	hsa-miR-4459	CLIP-seq
MIRT1121158	hsa-miR-4532	CLIP-seq
MIRT1121159	hsa-miR-4644	CLIP-seq
MIRT1121160	hsa-miR-4689	CLIP-seq
MIRT1121161	hsa-miR-4722-5p	CLIP-seq
MIRT1121162	hsa-miR-4752	CLIP-seq
MIRT1121163	hsa-miR-4779	CLIP-seq
MIRT1121164	hsa-miR-4784	CLIP-seq
MIRT1121165	hsa-miR-4802-3p	CLIP-seq
MIRT1121166	hsa-miR-490-5p	CLIP-seq
MIRT1121167	hsa-miR-555	CLIP-seq
MIRT2264743	hsa-miR-1207-3p	CLIP-seq
MIRT2264744	hsa-miR-127-3p	CLIP-seq
MIRT2264745	hsa-miR-15a	CLIP-seq
MIRT2264746	hsa-miR-15b	CLIP-seq
MIRT2264747	hsa-miR-16	CLIP-seq
MIRT2264748	hsa-miR-1827	CLIP-seq
MIRT1121146	hsa-miR-185	CLIP-seq
MIRT2264749	hsa-miR-195	CLIP-seq
MIRT1121147	hsa-miR-221	CLIP-seq
MIRT1121148	hsa-miR-222	CLIP-seq
MIRT1121149	hsa-miR-2278	CLIP-seq
MIRT1121151	hsa-miR-3126-5p	CLIP-seq
MIRT2264750	hsa-miR-3150a-3p	CLIP-seq
MIRT1121153	hsa-miR-3173-3p	CLIP-seq
MIRT2264751	hsa-miR-3175	CLIP-seq
MIRT2264752	hsa-miR-3192	CLIP-seq
MIRT2264753	hsa-miR-3612	CLIP-seq
MIRT2264754	hsa-miR-3689a-3p	CLIP-seq
MIRT2264755	hsa-miR-3689c	CLIP-seq
MIRT2264756	hsa-miR-370	CLIP-seq
MIRT2264757	hsa-miR-424	CLIP-seq
MIRT1121155	hsa-miR-4306	CLIP-seq
MIRT2264758	hsa-miR-4314	CLIP-seq
MIRT1121156	hsa-miR-4428	CLIP-seq
MIRT1121157	hsa-miR-4459	CLIP-seq
MIRT1121159	hsa-miR-4644	CLIP-seq
MIRT2264759	hsa-miR-4667-5p	CLIP-seq
MIRT2264760	hsa-miR-4700-5p	CLIP-seq
MIRT1121161	hsa-miR-4722-5p	CLIP-seq
MIRT2264761	hsa-miR-4728-5p	CLIP-seq
MIRT1121162	hsa-miR-4752	CLIP-seq
MIRT1121163	hsa-miR-4779	CLIP-seq
MIRT1121165	hsa-miR-4802-3p	CLIP-seq
MIRT2264762	hsa-miR-497	CLIP-seq
MIRT1121167	hsa-miR-555	CLIP-seq
MIRT2264763	hsa-miR-637	CLIP-seq
MIRT2264764	hsa-miR-650	CLIP-seq
MIRT2264765	hsa-miR-922	CLIP-seq
MIRT2264766	hsa-miR-939	CLIP-seq
MIRT1121146	hsa-miR-185	CLIP-seq
MIRT1121149	hsa-miR-2278	CLIP-seq
MIRT1121151	hsa-miR-3126-5p	CLIP-seq
MIRT1121155	hsa-miR-4306	CLIP-seq
MIRT1121157	hsa-miR-4459	CLIP-seq
MIRT1121159	hsa-miR-4644	CLIP-seq
MIRT1121161	hsa-miR-4722-5p	CLIP-seq
MIRT1121162	hsa-miR-4752	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IDA	18077552
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	15256501, 18077552
GO:0005515	Function	Protein binding	IPI	15256501, 16189514, 16713569, 18077552, 19549727, 19690564, 21044950, 23245322, 25260751, 25416956, 25484098, 27615052, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IDA	15256501, 18077552
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006914	Process	Autophagy	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IDA	15256501
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030163	Process	Protein catabolic process	IMP	18077552
GO:0045806	Process	Negative regulation of endocytosis	IMP	15256501
GO:0046755	Process	Viral budding	IMP	15256501
GO:0046872	Function	Metal ion binding	IEA
GO:0051865	Process	Protein autoubiquitination	IDA	15256501, 23245322
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	23245322
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070086	Process	Ubiquitin-dependent endocytosis	IDA	15256501
GO:1904417	Process	Positive regulation of xenophagy	IMP	23245322
GO:2000786	Process	Positive regulation of autophagosome assembly	IMP	25484098

MIM	HGNC	e!Ensembl
610933	25135	ENSG00000148356

Q6UWE0

Protein name

E3 ubiquitin-protein ligase LRSAM1 (EC 2.3.2.27) (Leucine-rich repeat and sterile alpha motif-containing protein 1) (RING-type E3 ubiquitin transferase LRSAM1) (Tsg101-associated ligase) (hTAL)

Protein function

E3 ubiquitin-protein ligase that mediates monoubiquitination of TSG101 at multiple sites, leading to inactivate the ability of TSG101 to sort endocytic (EGF receptors) and exocytic (HIV-1 viral proteins) cargos (PubMed:15256501). Bacterial recog

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	81 → 139	Leucine rich repeat	Repeat
PF13855	LRR_8	127 → 184	Leucine rich repeat	Repeat
PF07647	SAM_2	572 → 630	SAM domain (Sterile alpha motif)	Domain
PF13920	zf-C3HC4_3	671 → 716		Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue. {ECO:0000269|PubMed:22012984}.

Sequence

MPLFFRKRKPSEEARKRLEYQMCLAKEAGADDILDISKCELSEIPFGAFATCKVLQKKVL
IVHTNHLTSLLPKSCSLLSLATIKVLDLHDNQLTALPDDLGQLTALQVLNVERNQLMQLP
RSIGNLTQLQTLNVKDNKLKELPDTVGELRSLRTLNISGNEIQRLPQMLAHVRTLEMLSL
DASAMVYPPREVCGAGTAAILQFLCKESGLEYYPPSQYLLPILEQDGIENSRDSPDGPTD
RFSREELEWQNRFSDYEKRKEQKMLEKLEFERRLELGQREHTQLLQQSSSQKDEILQTVK
EEQSRLEQGLSEHQRHLNAERQRLQEQLKQTEQNISSRIQKLLQDNQRQKKSSEILKSLE
NERIRMEQLMSITQEETESLRRRDVASAMQQMLTESCKNRLIQMAYESQRQNLVQQACSS
MAEMDERFQQILSWQQMDQNKAISQILQESAMQKAAFEALQVKKDLMHRQIRSQIKLIET
ELLQLTQLELKRKSLDTESLQEMISEQRWALSSLLQQLLKEKQQREEELREILTELEAKS
ETRQENYWLIQYQRLLNQKPLSLKLQEEGMERQLVALLEELSAEHYLPIFAHHRLSLDLL
SQMSPGDLAKVGVSEAGLQHEILRRVQELLDAARIQPELKPPMGEVVTPTAPQEPPESVR
PSAPPAELEVQASECVVCLEREAQMIFLNCGHVCCCQQCCQPLRTCPLCRQDIAQRLRIY
HSS

Sequence length

723

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs756880678, rs797044913, rs1564287793, rs1588143215, rs1315010600, rs1588143112, rs747130246, rs1835476174, rs1836372698, rs76153575, rs1171946884	RCV000192257 RCV001173632 RCV000789359 RCV000789358 RCV001173629 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease axonal type 2P	Pathogenic; Likely pathogenic	rs775965001, rs1215220865, rs1156243243, rs752177472, rs1835470775, rs2132110332, rs746159728, rs2132063794, rs961918637, rs2132010730, rs1272943113, rs2132073231, rs2132128455, rs2539396830, rs2539442748 View all (49 more)	RCV001351203 RCV001390983 RCV001386892 RCV001390596 RCV002221182 View all (60 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease axonal type 2P-AR	Likely pathogenic; Pathogenic	rs2539464527, rs749012928	RCV006269677 RCV005240490	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial pancreatic carcinoma	Likely pathogenic	rs76153575	RCV005908894	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LRSAM1-related disorder	Pathogenic	rs752177472	RCV004756229	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs76153575	RCV005908893	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs752177472, rs76153575	RCV005912659 RCV005908895	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

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	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE TYPE 2P	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, AXONAL FORM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, type I	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (48)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27615052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	22301904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28596039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	20865121, 22781092, 23519028, 24894446, 27615052, 28335037, 29341362, 30826859		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CTD_human_DG	20865121		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 2P	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, axonal, Type 2G	Charcot-Marie-Tooth Disease	CTD_human_DG	22781092, 27686364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, axonal, Type 2G	Charcot-Marie-Tooth Disease	BEFREE	27686364		★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P	Charcot-Marie-Tooth Disease	UNIPROT_DG	20865121, 22012984, 27615052, 27686364		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P	Charcot-Marie-Tooth Disease	CLINVAR_DG	20865121, 22012984, 24894446, 26752306, 26900582, 27164712, 27615052, 28335037, 29341362		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	28335037		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P	Charcot-Marie-Tooth Disease	BEFREE	30726272		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease, Type 4A, axonal form	Charcot-Marie-Tooth disease	CTD_human_DG	22781092, 27686364		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG	20865121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	CTD_human_DG	20865121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	20671226, 23499421, 27139010, 27231835, 27686609, 27876521, 28298367, 28607011, 29472806, 29576405, 30231255, 30581789, 30717123, 31238029, 31615608, 31618189 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28285957, 29650676, 30717123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23045723	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Axonal Neuropathy Autosomal Dominant	Giant axonal neuropathy	Pubtator	22012984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CTD_human_DG	20865121		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CTD_human_DG	20865121		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	24894446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	29253842, 31037734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29253842	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29891225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	28607011, 29038262, 29501603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	20671226, 22005822, 23499421, 25525983, 26752169, 27139010, 27231835, 27803367, 27890835, 28093933, 28143505, 28219327, 28285957, 28298367, 28353411 View all (40 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	20671226, 23499421, 27139010, 27231835, 27686609, 27876521, 28298367, 28607011, 29472806, 29576405, 30231255, 30581789, 30717123, 31238029, 31615608, 31618189 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	22491738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	2303035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31592239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14504110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	27615052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	24894446, 30996334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29845787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20865121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30826859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	24894446, 29845787, 30996334		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26556829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	22012984, 27615052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	21112032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	27876521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	CTD_human_DG	20865121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	34741430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30380781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)