MYO1E (myosin IE)

Gene

• Entrez ID: 4643
• Gene name: Myosin IE
• Gene symbol: MYO1E
• Synonyms (NCBI Gene): FSGS6, HuncM-IC, MYO1C
• Chromosome: 15
• Chromosome location: 15q22.2
• Summary: This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor)

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906807	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs778868018	A>C,G	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1555411458	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596351849	A>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001531	hsa-miR-155-5p	pSILAC	18668040
MIRT001531	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT023408	hsa-miR-30b-5p	Sequencing	20371350
MIRT028066	hsa-miR-93-5p	Sequencing	20371350
MIRT032300	hsa-let-7b-5p	Proteomics	18668040
MIRT1169496	hsa-miR-1253	CLIP-seq
MIRT1169497	hsa-miR-1291	CLIP-seq
MIRT1169498	hsa-miR-192	CLIP-seq
MIRT1169499	hsa-miR-215	CLIP-seq
MIRT1169500	hsa-miR-219-1-3p	CLIP-seq
MIRT1169501	hsa-miR-3117-5p	CLIP-seq
MIRT1169502	hsa-miR-3148	CLIP-seq
MIRT1169503	hsa-miR-3153	CLIP-seq
MIRT1169504	hsa-miR-361-3p	CLIP-seq
MIRT1169505	hsa-miR-3661	CLIP-seq
MIRT1169506	hsa-miR-3667-5p	CLIP-seq
MIRT1169507	hsa-miR-3943	CLIP-seq
MIRT1169508	hsa-miR-3978	CLIP-seq
MIRT1169509	hsa-miR-4259	CLIP-seq
MIRT1169510	hsa-miR-4467	CLIP-seq
MIRT1169511	hsa-miR-4519	CLIP-seq
MIRT1169512	hsa-miR-4530	CLIP-seq
MIRT1169513	hsa-miR-4690-3p	CLIP-seq
MIRT1169514	hsa-miR-4691-3p	CLIP-seq
MIRT1169515	hsa-miR-4703-3p	CLIP-seq
MIRT1169516	hsa-miR-4709-3p	CLIP-seq
MIRT1169517	hsa-miR-4715-5p	CLIP-seq
MIRT1169518	hsa-miR-4730	CLIP-seq
MIRT1169519	hsa-miR-4732-3p	CLIP-seq
MIRT1169520	hsa-miR-4735-5p	CLIP-seq
MIRT1169521	hsa-miR-576-5p	CLIP-seq
MIRT1169522	hsa-miR-580	CLIP-seq
MIRT1169523	hsa-miR-631	CLIP-seq
MIRT2048852	hsa-miR-101	CLIP-seq
MIRT1169497	hsa-miR-1291	CLIP-seq
MIRT2048853	hsa-miR-144	CLIP-seq
MIRT2048854	hsa-miR-3120-3p	CLIP-seq
MIRT1169504	hsa-miR-361-3p	CLIP-seq
MIRT1169505	hsa-miR-3661	CLIP-seq
MIRT1169507	hsa-miR-3943	CLIP-seq
MIRT2048855	hsa-miR-4281	CLIP-seq
MIRT2048856	hsa-miR-4310	CLIP-seq
MIRT2048857	hsa-miR-4449	CLIP-seq
MIRT1169510	hsa-miR-4467	CLIP-seq
MIRT1169512	hsa-miR-4530	CLIP-seq
MIRT1169513	hsa-miR-4690-3p	CLIP-seq
MIRT1169518	hsa-miR-4730	CLIP-seq
MIRT1169519	hsa-miR-4732-3p	CLIP-seq
MIRT1169523	hsa-miR-631	CLIP-seq
MIRT2277726	hsa-miR-1184	CLIP-seq
MIRT2277727	hsa-miR-1205	CLIP-seq
MIRT2277728	hsa-miR-1254	CLIP-seq
MIRT2277729	hsa-miR-1913	CLIP-seq
MIRT2277730	hsa-miR-3116	CLIP-seq
MIRT2048854	hsa-miR-3120-3p	CLIP-seq
MIRT2277731	hsa-miR-3158-5p	CLIP-seq
MIRT2277732	hsa-miR-3189-5p	CLIP-seq
MIRT2277733	hsa-miR-324-3p	CLIP-seq
MIRT2277734	hsa-miR-4254	CLIP-seq
MIRT2277735	hsa-miR-4268	CLIP-seq
MIRT2048856	hsa-miR-4310	CLIP-seq
MIRT2277736	hsa-miR-4633-3p	CLIP-seq
MIRT2277737	hsa-miR-4758-3p	CLIP-seq
MIRT2576452	hsa-miR-1	CLIP-seq
MIRT2277726	hsa-miR-1184	CLIP-seq
MIRT2277727	hsa-miR-1205	CLIP-seq
MIRT2576453	hsa-miR-1252	CLIP-seq
MIRT2576454	hsa-miR-125a-5p	CLIP-seq
MIRT2576455	hsa-miR-125b	CLIP-seq
MIRT2576456	hsa-miR-206	CLIP-seq
MIRT2576457	hsa-miR-2467-3p	CLIP-seq
MIRT2576458	hsa-miR-3125	CLIP-seq
MIRT2576459	hsa-miR-3141	CLIP-seq
MIRT2277731	hsa-miR-3158-5p	CLIP-seq
MIRT2576460	hsa-miR-3621	CLIP-seq
MIRT2576461	hsa-miR-3678-3p	CLIP-seq
MIRT2576462	hsa-miR-3916	CLIP-seq
MIRT2576463	hsa-miR-4319	CLIP-seq
MIRT2576464	hsa-miR-4476	CLIP-seq
MIRT1169519	hsa-miR-4732-3p	CLIP-seq
MIRT2576465	hsa-miR-613	CLIP-seq
MIRT2576466	hsa-miR-622	CLIP-seq
MIRT2576467	hsa-miR-670	CLIP-seq
MIRT2576452	hsa-miR-1	CLIP-seq
MIRT2277726	hsa-miR-1184	CLIP-seq
MIRT2277727	hsa-miR-1205	CLIP-seq
MIRT2576453	hsa-miR-1252	CLIP-seq
MIRT2576454	hsa-miR-125a-5p	CLIP-seq
MIRT2576455	hsa-miR-125b	CLIP-seq
MIRT2576456	hsa-miR-206	CLIP-seq
MIRT2576457	hsa-miR-2467-3p	CLIP-seq
MIRT2576458	hsa-miR-3125	CLIP-seq
MIRT2576459	hsa-miR-3141	CLIP-seq
MIRT2277731	hsa-miR-3158-5p	CLIP-seq
MIRT2576460	hsa-miR-3621	CLIP-seq
MIRT2576461	hsa-miR-3678-3p	CLIP-seq
MIRT2576462	hsa-miR-3916	CLIP-seq
MIRT2576463	hsa-miR-4319	CLIP-seq
MIRT2576464	hsa-miR-4476	CLIP-seq
MIRT1169519	hsa-miR-4732-3p	CLIP-seq
MIRT2576465	hsa-miR-613	CLIP-seq
MIRT2576466	hsa-miR-622	CLIP-seq
MIRT2576467	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0003094	Process	Glomerular filtration	IEA
GO:0003094	Process	Glomerular filtration	ISS
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17257598, 19846667, 21458045
GO:0005516	Function	Calmodulin binding	IDA	11940582
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005856	Component	Cytoskeleton	IDA	17257598
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005902	Component	Microvillus	IBA
GO:0005903	Component	Brush border	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0006897	Process	Endocytosis	IBA
GO:0006897	Process	Endocytosis	IMP	17257598
GO:0007015	Process	Actin filament organization	IBA
GO:0008289	Function	Lipid binding	IEA
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	TAS	11940582
GO:0016887	Function	ATP hydrolysis activity	IDA	11940582
GO:0030097	Process	Hemopoiesis	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032835	Process	Glomerulus development	IBA
GO:0032836	Process	Glomerular basement membrane development	IEA
GO:0032836	Process	Glomerular basement membrane development	ISS
GO:0035091	Function	Phosphatidylinositol binding	IDA	20860408
GO:0035166	Process	Post-embryonic hemopoiesis	IEA
GO:0045334	Component	Clathrin-coated endocytic vesicle	IDA	17257598
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IDA	11940582
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070161	Component	Anchoring junction	IEA
GO:0072015	Process	Podocyte development	IEA
GO:0072015	Process	Podocyte development	ISS

Other IDs

• MIM: 601479
• HGNC: 7599
• e!Ensembl: ENSG00000157483

Protein

• UniProt ID: Q12965
• Protein name: Unconventional myosin-Ie (Myosin-Ic) (Unconventional myosin 1E)
• Protein function: Actin-based motor molecule with ATPase activity (PubMed:11940582, PubMed:36316095). Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin fil
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00063	Myosin_head	21 → 679	Myosin head (motor domain)	Domain
  PF06017	Myosin_TH1	719 → 920	Unconventional myosin tail, actin- and lipid-binding	Domain
  PF00018	SH3_1	1057 → 1102	SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the immune system. In the kidney, predominantly expressed in the glomerulus, including podocytes. {ECO:0000269|PubMed:21458045, ECO:0000269|PubMed:21756023}.
• Sequence:

  MGSKGVYQYHWQSHNVKHSGVDDMVLLSKITENSIVENLKKRYMDDYIFTYIGSVLISVN
  PFKQMPYFGEKEIEMYQGAAQYENPPHIYALADNMYRNMIIDRENQCVIISGESGAGKTV
  AAKYIMSYISRVSGGGTKVQHVKDIILQSNPLLEAFGNAKTVRNNNSSRFGKYFEIQFSP
  GGEPDGGKISNFLLEKSRVVMRNPGERSFHIFYQLIEGASAEQKHSLGITSMDYYYYLSL
  SGSYKVDDIDDRREFQETLHAMNVIGIFAEEQTLVLQIVAGILHLGNISFKEVGNYAAVE
  SEEFLAFPAYLLGINQDRLKEKLTSRQMDSKWGGKSESIHVTLNVEQACYTRDALAKALH
  ARVFDFLVDSINKAMEKDHEEYNIGVLDIYGFEIFQKNGFEQFCINFVNEKLQQIFIELT
  LKAEQEEYVQEGIRWTPIEYFNNKIVCDLIENKVNPPGIMSILDDVCATMHAVGEGADQT
  LLQKLQMQIGSHEHFNSWNQGFIIHHYAGKVSYDMDGFCERNRDVLFMDLIELMQSSELP
  FIKSLFPENLQADKKGRPTTAGSKIKKQANDLVSTLMKCTPHYIRCIKPNETKKPRDWEE
  SRVKHQVEYLGLKENIRVRRAGYAYRRIFQKFLQRYAILTKATWPSWQGEEKQGVLHLLQ
  SVNMDSDQFQLGRSKVFIKAPESLFLLEEMRERKYDGYARVIQKSWRKFVARKKYVQMRE
  EASDLLLNKKERRRNSINRNFIGDYIGMEEHPELQQFVGKREKIDFADTVTKYDRRFKGV
  KRDLLLTPKCLYLIGREKVKQGPDKGLVKEVLKRKIEIERILSVSLSTMQDDIFILHEQE
  YDSLLESVFKTEFLSLLAKRYEEKTQKQLPLKFSNTLELKLKKENWGPWSAGGSRQVQFH
  QGFGDLAVLKPSNKVLQVSIGPGLPKNSRPTRRNTTQNTGYSSGTQNANYPVRAAPPPPG
  YHQNGVIRNQYVPYPHAPGSQRSNQKSLYTSMARPPLPRQQSTSSDRVSQTPESLDFLKV
  PDQGAAGVRRQTTSRPPPAGGRPKPQPKPKPQVPQCKALYAYDAQDTDELSFNANDIIDI
  IKEDPSGWWTGRLRGKQGLFPNNYVTKI

• Sequence length: 1108

Pathways

KEGG:

Motor proteins
Pathogenic Escherichia coli infection

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Focal segmental glomerulosclerosis 6	Pathogenic; Likely pathogenic	rs1427276872, rs2542174867, rs387906807, rs778868018, rs1596351849, rs2079495070	RCV001535898 RCV003989827 RCV000023110 RCV000023111 RCV000995815 RCV001281188	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrotic syndrome	Likely pathogenic	rs2140342702, rs2140319931, rs2079386835, rs781347673	RCV001849753 RCV001849758 RCV001328212 RCV001328211	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic	rs200956105	RCV005935073	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosteroids response	drug response	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microscopic hematuria	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYO1E-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL AND SEGMENTAL HYALINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL AND SEGMENTAL SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME WITH FOCAL GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME, FOCAL AND SEGMENTAL GLOMERULAR LESIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27562213	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31699152		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31699152	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22065898	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36781839	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26744305		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	Deafness	CLINGEN_DG	12486594, 19027848, 20640478		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27716847	Inhibit	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	21756023, 26092123		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6	Focal segmental glomerulosclerosis	UNIPROT_DG	21697813, 21756023		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6	Focal segmental glomerulosclerosis	GENOMICS_ENGLAND_DG	23595123		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6	Focal segmental glomerulosclerosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	27246739		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27246739		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37953466	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	25739341, 26092123, 36705362	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19027848	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	19027848	Associate	★☆☆☆☆ Found in Text Mining only
Hyalinosis, Segmental Glomerular	Glomerular Hyalinosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	25739341, 26092123, 31520189		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	25739341, 26092123	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	25739341	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22065898		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36101745, 36914720	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31699152		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25259793		★☆☆☆☆ Found in Text Mining only
Malocclusion	Malocclusion	Pubtator	24698832	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28814772		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28351895, 29687337		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22065898, 25259793		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	21697813, 31520189		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	21697813, 25739341, 28921387, 35920919	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	21756023		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	30415495	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25259793		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	25259793		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28814772	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	26744305	Associate	★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	27725732		★☆☆☆☆ Found in Text Mining only
Scleroderma Diffuse	Scleroderma	Pubtator	24812288	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	19027848		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	24636949		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	CLINGEN_DG	12486594, 19027848, 20640478		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31151297		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	32176034	Associate	★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	21697813		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27468717	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30484954		★☆☆☆☆ Found in Text Mining only
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	25739341		★☆☆☆☆ Found in Text Mining only