AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2)

Gene

• Entrez ID: 10555
• Gene name: 1-acylglycerol-3-phosphate O-acyltransferase 2
• Gene symbol: AGPAT2
• Synonyms (NCBI Gene): 1-AGPAT2, BSCL, BSCL1, LPAAB, LPAAT-beta, LPLAT2
• Chromosome: 9
• Chromosome location: 9q34.3
• Summary: This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosyn

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894093	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894100	A>G	Pathogenic	Coding sequence variant, missense variant
rs116807569	T>C	Pathogenic	Splice acceptor variant
rs121908925	T>A	Pathogenic	Coding sequence variant, stop gained
rs121908926	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, intron variant, stop gained
rs200656731	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs387906355	->A	Pathogenic	Frameshift variant, coding sequence variant
rs387906356	AGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs606231168	C>G	Pathogenic	Splice acceptor variant, intron variant
rs746809573	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs748157664	C>A,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs764260414	C>T	Pathogenic	Coding sequence variant, missense variant
rs797045222	C>T	Pathogenic	Coding sequence variant, missense variant
rs886043265	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs933422777	C>T	Pathogenic	Splice donor variant
rs1057517649	T>C	Pathogenic	Splice acceptor variant
rs1057517650	C>T	Pathogenic	Splice donor variant
rs1057517651	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057517653	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057517654	A>C	Pathogenic	Splice donor variant
rs1057517655	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057517656	TCCTCATGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1057518714	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1131691791	T>G	Pathogenic	Splice acceptor variant
rs1564290079	GGAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564290914	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1588263957	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037533	hsa-miR-744-5p	CLASH	23622248
MIRT437826	hsa-miR-24-3p	GFP reporter assay	23578572
MIRT772278	hsa-miR-1289	CLIP-seq
MIRT772279	hsa-miR-1913	CLIP-seq
MIRT772280	hsa-miR-2115	CLIP-seq
MIRT772281	hsa-miR-324-3p	CLIP-seq
MIRT772282	hsa-miR-4290	CLIP-seq
MIRT772283	hsa-miR-4641	CLIP-seq
MIRT772284	hsa-miR-4691-5p	CLIP-seq
MIRT772285	hsa-miR-671-5p	CLIP-seq
MIRT772286	hsa-miR-765	CLIP-seq
MIRT772287	hsa-miR-766	CLIP-seq
MIRT772288	hsa-miR-1225-3p	CLIP-seq
MIRT772289	hsa-miR-1233	CLIP-seq
MIRT772290	hsa-miR-3943	CLIP-seq
MIRT772291	hsa-miR-4267	CLIP-seq
MIRT772292	hsa-miR-4313	CLIP-seq
MIRT772293	hsa-miR-4663	CLIP-seq
MIRT772294	hsa-miR-4728-5p	CLIP-seq
MIRT1545185	hsa-miR-4645-5p	CLIP-seq
MIRT1545186	hsa-miR-4673	CLIP-seq
MIRT1927886	hsa-miR-15a	CLIP-seq
MIRT1927887	hsa-miR-15b	CLIP-seq
MIRT1927888	hsa-miR-16	CLIP-seq
MIRT1927889	hsa-miR-1915	CLIP-seq
MIRT1927890	hsa-miR-195	CLIP-seq
MIRT1927891	hsa-miR-2114	CLIP-seq
MIRT1927892	hsa-miR-214	CLIP-seq
MIRT1927893	hsa-miR-3136-3p	CLIP-seq
MIRT1927894	hsa-miR-3178	CLIP-seq
MIRT1927895	hsa-miR-3192	CLIP-seq
MIRT1927896	hsa-miR-3199	CLIP-seq
MIRT1927897	hsa-miR-339-5p	CLIP-seq
MIRT1927898	hsa-miR-3619-5p	CLIP-seq
MIRT1927899	hsa-miR-3940-3p	CLIP-seq
MIRT1927900	hsa-miR-424	CLIP-seq
MIRT1927901	hsa-miR-4257	CLIP-seq
MIRT772291	hsa-miR-4267	CLIP-seq
MIRT772282	hsa-miR-4290	CLIP-seq
MIRT1927902	hsa-miR-4314	CLIP-seq
MIRT1927903	hsa-miR-4532	CLIP-seq
MIRT1927904	hsa-miR-4634	CLIP-seq
MIRT1927905	hsa-miR-4646-5p	CLIP-seq
MIRT1927906	hsa-miR-4690-5p	CLIP-seq
MIRT1927907	hsa-miR-4722-5p	CLIP-seq
MIRT772294	hsa-miR-4728-5p	CLIP-seq
MIRT1927908	hsa-miR-497	CLIP-seq
MIRT1927909	hsa-miR-627	CLIP-seq
MIRT1927910	hsa-miR-663b	CLIP-seq
MIRT1927911	hsa-miR-761	CLIP-seq
MIRT1927912	hsa-miR-924	CLIP-seq
MIRT2168738	hsa-miR-1972	CLIP-seq
MIRT1545185	hsa-miR-4645-5p	CLIP-seq
MIRT1545186	hsa-miR-4673	CLIP-seq
MIRT2168739	hsa-miR-4797-5p	CLIP-seq
MIRT1927912	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	IMP	9212163
GO:0001961	Process	Positive regulation of cytokine-mediated signaling pathway	IC	9212163
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IBA
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IDA	9212163, 9242711, 19075029, 21873652
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IEA
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IMP	15629135
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	NAS	9461603
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	21873652
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	NAS	9461603
GO:0006654	Process	Phosphatidic acid biosynthetic process	IBA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IGI	9212163
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS	9212163
GO:0008544	Process	Epidermis development	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0035579	Component	Specific granule membrane	TAS

Other IDs

• MIM: 603100
• HGNC: 325
• e!Ensembl: ENSG00000169692

Protein

• UniProt ID: O15120
• Protein name: 1-acyl-sn-glycerol-3-phosphate acyltransferase beta (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 2) (1-AGP acyltransferase 2) (1-AGPAT 2) (Lysophosphatidic acid acyltransferase beta) (LPAAT-beta)
• Protein function: Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. {ECO:0000269|PubMed:15629135,
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01553	Acyltransferase	77 → 205	Acyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed predominantly in adipose tissue, pancreas and liver. {ECO:0000269|PubMed:21873652, ECO:0000269|PubMed:9242711}.
• Sequence:

  MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENM
  SIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQSILDMMGLMEVLPERCVQIAK
  RELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERMVRENLKVWIYPEGTRNDNGD
  LLPFKKGAFYLAVQAQVPIVPVVYSSFSSFYNTKKKFFTSGTVTVQVLEAIPTSGLTAAD
  VPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ

• Sequence length: 278

Pathways

KEGG:

Glycerolipid metabolism
Glycerophospholipid metabolism
Metabolic pathways
Phospholipase D signaling pathway
Fat digestion and absorption

Reactome:

Synthesis of PA
Neutrophil degranulation

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
AGPAT2-related disorder	Likely pathogenic	rs1437995318	RCV003420787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital generalized lipodystrophy	Pathogenic	rs2119186288, rs116807569	RCV002266031 RCV003488328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital generalized lipodystrophy type 1	Pathogenic; Likely pathogenic	rs1693228350, rs1255380257, rs2131023674, rs2131023956, rs763254660, rs797045222, rs104894093, rs116807569, rs387906355, rs104894100, rs121908925, rs606231168, rs121908926, rs2490701344, rs886063722, rs2490701553, rs748157664, rs933422777, rs764260414, rs1057518714, rs1131691791, rs1564290079, rs1564290914, rs1588263957	RCV002246369 RCV001706773 RCV003990595 RCV002251240 RCV002470445 RCV000193026 RCV000007003 RCV000007004 RCV000007005 RCV000007006 RCV000007008 RCV000007009 RCV000007010 RCV003237332 RCV000412550 RCV004547267 RCV000412645 RCV000412609 RCV000412496 RCV000414972 RCV002506195 RCV000754915 RCV000754914 RCV000985088	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs606231168	RCV005887332	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GENERALIZED LIPODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, CONGENITAL GENERALIZED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, NOT ELSEWHERE CLASSIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES MELLITUS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	24205284		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	34213454	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33380715	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	16944535	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	32117065	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital generalized lipodystrophy	Congenital Lipodystrophy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	UNIPROT_DG	11967537, 15629135		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	GENOMICS_ENGLAND_DG	11967537, 22902344		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	BEFREE	19226263, 22902344, 30563316		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 2	Congenital Lipodystrophy	BEFREE	15181077, 18057387		★☆☆☆☆ Found in Text Mining only
Congenital Generalized Lipodystrophy Type 2	Congenital Lipodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34213454	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22831748		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22831748		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	30296183	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30563316	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	30563316	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	16230405		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	11967537, 12765973, 14715872, 15181077, 15629135, 16495223, 18211975, 19226263, 19278620, 20097706, 21744063, 22831748, 22872237, 24152769, 24498038, 25300978, 27631079, 28973305, 29908837, 30266686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	LHGDN	11967537, 15181077, 15629135, 16435205		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	17374881, 27631079		★☆☆☆☆ Found in Text Mining only
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	BEFREE	22831748		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	21873652		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	32349771	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	23362058	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12362029		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12362029		★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15181077		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	16246048		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	GENOMICS_ENGLAND_DG	11967537, 12765973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	BEFREE	12362029, 12765973, 12826327, 16246048, 16409151, 16495223, 16722806, 19727665, 20097706, 20551664, 21392585, 22872237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	LHGDN	14602785, 18155601		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	Pubtator	30563316, 30940487, 38231342	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy	Lipodystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	12362029, 15181077, 16735770, 18211975, 20684003, 22902344, 24498038, 27144933, 30563316, 32079542, 32117065, 32349771, 34033296, 34213454, 37347108	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	26176221, 38231342	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	16230405		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16230405, 24205284, 29908837		★☆☆☆☆ Found in Text Mining only
Mandibuloacral dysostosis	Mandibuloacral Dysostosis	BEFREE	17374881		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	40200221	Associate	★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	12362029		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15181077		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	34213454	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12826327, 14557463, 14602785, 15126564, 15181077, 15629135, 16495223, 17374881, 18057387, 22872237, 23659685, 23919306, 24498038, 24980513, 26239609, 30266686		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	14498826, 28035350		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	30563316	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12826327		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21152068, 28443990	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23578572, 28035350, 28443990		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15841084		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16230405		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15841084	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16944535	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24205284	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	33228780	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	30563316	Associate	★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	21873652		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	23919306		★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only