ACTG2 (actin gamma 2, smooth muscle)

Gene

• Entrez ID: 72
• Gene name: Actin gamma 2, smooth muscle
• Gene symbol: ACTG2
• Synonyms (NCBI Gene): ACT, ACTA3, ACTE, ACTL3, ACTSG, MMIHS5, VSCM, VSCM1
• Chromosome: 2
• Chromosome location: 2p13.1
• Summary: Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissue

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs78001248	C>T	Pathogenic	Coding sequence variant, missense variant
rs140943831	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs587777383	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs587777384	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs587777385	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777386	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777387	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777388	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs587777870	GC>AA	Pathogenic	Missense variant, coding sequence variant
rs730880256	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs757905857	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs768290597	C>A,G	Pathogenic, uncertain-significance	Intron variant
rs797044959	G>A	Pathogenic	Coding sequence variant, missense variant
rs864309490	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs864309491	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant, intron variant
rs864309492	G>A	Pathogenic	Coding sequence variant, missense variant
rs869312168	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057516046	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057520694	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057522054	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1553396458	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1573461481	C>T	Pathogenic	Coding sequence variant, missense variant
rs1573462811	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1573468797	C>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT733552	hsa-miR-193a-3p	Luciferase reporter assay, qRT-PCR, Western blotting	33510768

Transcription factors

Transcription factor	Regulation	Reference
MYOCD	Activation	19797053
NKX3-1	Activation	19797053

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	ISS
GO:0032982	Component	Myosin filament	ISS
GO:0044297	Component	Cell body	ISS
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071944	Component	Cell periphery	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090131	Process	Mesenchyme migration	ISS

Other IDs

• MIM: 102545
• HGNC: 145
• e!Ensembl: ENSG00000163017

Protein

• UniProt ID: P63267
• Protein name: Actin, gamma-enteric smooth muscle (EC 3.6.4.-) (Alpha-actin-3) (Gamma-2-actin) (Smooth muscle gamma-actin) [Cleaved into: Actin, gamma-enteric smooth muscle, intermediate form]
• Protein function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
• PDB: 6JAT, 8V2O, 8V2Z, 8V30
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00022	Actin	3 → 376	Actin	Family

• Tissue specificity: TISSUE SPECIFICITY: In the intestine, abundantly expressed in smooth muscle cells of muscularis mucosa and muscularis propria. Also detected in intestinal vascular smooth muscle cells. {ECO:0000269|PubMed:26647307}.
• Sequence:

  MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQ
  SKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEHPTLLTEAPLNPKANREKM
  TQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLD
  LAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEKS
  YELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVL
  SGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISK
  PEYDEAGPSIVHRKCF

• Sequence length: 376

Pathways

KEGG:

Vascular smooth muscle contraction
Motor proteins
Cytoskeleton in muscle cells

Reactome:

Smooth Muscle Contraction

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
ACTG2-related disorder	Likely pathogenic; Pathogenic	rs587777385, rs78001248, rs1553396458	RCV004542869 RCV004529991 RCV004527668	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic intestinal pseudoobstruction	Likely pathogenic; Pathogenic	rs2104825201, rs587777383, rs587777386, rs587777387, rs797044959, rs869312168	RCV001647273 RCV000210361 RCV000851221 RCV000210354 RCV000210360 RCV000210357	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Constipation	Likely pathogenic; Pathogenic	rs587777386	RCV005241237	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal obstruction	Likely pathogenic	rs587777383	RCV001533000	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megacystis	Pathogenic	rs587777387, rs797044959	RCV000210354 RCV000210360	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megacystis, microcolon, hypoperistalsis syndrome	Likely pathogenic	rs2104815901	RCV002052417	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Pathogenic; Likely pathogenic	rs587777384, rs587777385, rs78001248, rs587777386, rs587777387, rs587777388, rs1573461481, rs1573462811, rs864309492, rs797044959, rs1247270735	RCV001535392 RCV001535395 RCV001535393 RCV001535394 RCV002505051 RCV001535396 RCV001535397 RCV002280001 RCV002289104 RCV002466887 RCV001535812 RCV003883289 RCV003990221 RCV001535810	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Visceral myopathy 1	Likely pathogenic; Pathogenic	rs587777383, rs2104821169, rs587777384, rs587777385, rs78001248, rs587777386, rs587777387, rs587777388, rs587777870, rs730880256, rs1553396458, rs797044959, rs864309490, rs864309491, rs768290597, rs864309492, rs1462841170, rs1057516046, rs1573468797, rs1573461481, rs1573462811, rs757905857, rs1680192455, rs140943831	RCV004719163 RCV001824260 RCV000119266 RCV000119267 RCV000119268 RCV000119269 RCV000119270 RCV000119271 RCV000119272 RCV000119274 RCV000144704 RCV000157596 RCV002471339 RCV001376053 RCV000202556 RCV000202512 RCV000202559 RCV000202479 RCV003883289 RCV003985239 RCV000408625 RCV000585773 RCV000824849 RCV000855535 RCV000855536 RCV000995481 RCV001093598 RCV001263535	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Visceral neuropathy, familial, 3, autosomal dominant	Likely pathogenic; Pathogenic	rs587777386, rs587777387	RCV000680451 RCV000680452	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BELL'S PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTESTINAL PSEUDO-OBSTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL VISCERAL MYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal pseudo-obstruction	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MEGACYSTIS MICROCOLON INTESTINAL HYPOPERISTALSIS SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISCERAL MYOPATHY, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	29125557		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	22170383		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	16570232, 7479776		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	9225693		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	17908691		★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	34852854	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	33910387	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	16570232, 7479776		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11793783, 2299303, 25353337, 27736038, 28636794, 28947024, 28984253, 29110960, 29223149, 29692816, 29724395, 30772471, 30831256, 31047107, 31371165		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28280732		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	28764996		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15811132, 27314662, 29022486		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25774687	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	28636794		★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	30402942		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27107594	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28019080		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	11289720, 1618300		★☆☆☆☆ Found in Text Mining only
Choledochal Cyst	Cholecystolithiasis	Pubtator	30019982	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	LHGDN	17934296		★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	17934296		★☆☆☆☆ Found in Text Mining only
Chronic intestinal pseudo-obstruction	Intestinal Pseudoobstruction	CLINVAR_DG	24337657, 24676022, 25998219, 26813947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic intestinal pseudo-obstruction	Intestinal Pseudoobstruction	BEFREE	26813947, 28422808, 29781137		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31431060, 8244391		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23721165, 30786729, 35927308	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	31578276		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35652208	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	12050213		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	16330681, 28987235		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30608912		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	BEFREE	20466371		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16987932		★☆☆☆☆ Found in Text Mining only
Depression, Postpartum	Mental Depression	BEFREE	30498212		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	10622342, 27894822		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11796176		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	9568693		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17009076		★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	28711113		★☆☆☆☆ Found in Text Mining only
Familial visceral myopathy	Visceral Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal megacystis	Fetal megacystis	BEFREE	25998219		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	33883208	Associate	★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	27819410		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	27819410		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29625448		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25586468, 28844499		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25586468, 28844499		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20209496		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	16330681		★☆☆☆☆ Found in Text Mining only
Heart Neoplasm	Cardiac Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29447737		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	17368652		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	15159602		★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	BEFREE	25782675		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ischemic stroke	Ischemic Stroke	BEFREE	19959196		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	19901961, 21412072		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	19901961	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	9469262		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	19901961, 21412072		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28385530, 28456796		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	8228125		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27107594	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	25782675	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	22170383		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15811132, 27314662, 29022486		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28456796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	20514505, 28019080		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18383875, 29125557		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25589272, 27107594, 29923026, 30608912		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	28422808	Associate	★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	8228125		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Megacystis microcolon intestinal hypoperistalsis syndrome	Berdon syndrome	BEFREE	24337657, 24676022, 25407000, 25998219, 26647307, 28602422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis microcolon intestinal hypoperistalsis syndrome	Berdon syndrome	CTD_human_DG	24337657, 24676022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis microcolon intestinal hypoperistalsis syndrome	Berdon syndrome	ORPHANET_DG	24676022		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis microcolon intestinal hypoperistalsis syndrome	Megacystis microcolon intestinal hypoperistalsis syndrome	Pubtator	24676022, 25782675, 26813947	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis microcolon intestinal hypoperistalsis syndrome	Berdon syndrome	GENOMICS_ENGLAND_DG	25998219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Megacystis-microcolon-intestinal hypoperistalsis syndrome	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	27894822		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29373933, 30200911		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	20043850	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	20043850	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcolon	Microcolon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microspherocytosis	Microspherocytosis	BEFREE	8547071		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	18078695, 30577848		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19098683, 22960657, 24337657, 24676022, 25782675, 26669664, 28383543		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27557625		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	28728956		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28987235		★☆☆☆☆ Found in Text Mining only
Myopathic intestinal pseudoobstruction	Myopathic Intestinal Pseudoobstruction	Orphanet			★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	30589994		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	38013282	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25589272, 26683520, 28456796, 31285373		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	21036752		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	24777424		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	11936240, 27894822, 29373933		★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	BEFREE	28383543		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24064976		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	23549446		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28019080		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10907731, 11956967, 11992569, 9219874, 9932947		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	22038928		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	28954297		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28954297		★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	7479776		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16987932		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	30498212		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18383875, 29125557		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32243390	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	11936240, 27894822, 29373933		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29447737		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30608912		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28776300, 30299241, 31261500		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10474060, 24275578, 29477870		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	22139032, 23922111		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	15530656		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep-Disordered Breathing	Sleep Apnea	BEFREE	30489041		★☆☆☆☆ Found in Text Mining only
Spermatic Cord Torsion	Spermatic Cord Torsion	BEFREE	31444122		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25577251		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	9831377		★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	16687568		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29720235		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	29453416, 31427716		★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	38013282	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	UNIPROT_DG	22960657, 24337657, 24676022, 24777424		★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	GENOMICS_ENGLAND_DG	24337657, 25998219		★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	CLINVAR_DG	24337657, 24676022, 25998219, 26813947, 26938784		★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	BEFREE	25782675, 28383543, 29781137, 30430282, 31769566		★☆☆☆☆ Found in Text Mining only
Visceral Myopathy	Visceral Myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Visceral Myopathy Familial	Visceral neuropathy	Pubtator	25782675	Associate	★☆☆☆☆ Found in Text Mining only
Visceral Myopathy, Familial	Visceral Myopathy	BEFREE	22960657, 25782675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visceral Myopathy, Familial	Visceral Myopathy	CTD_human_DG	22960657		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visceral Myopathy, Familial	Visceral Myopathy	ORPHANET_DG	22960657		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visceral Neuropathy, Familial, Autosomal Dominant	Visceral Neuropathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations