PLIN1 (perilipin 1)

Gene

• Entrez ID: 5346
• Gene name: Perilipin 1
• Gene symbol: PLIN1
• Synonyms (NCBI Gene): FPLD4, PERI, PLIN
• Chromosome: 15
• Chromosome location: 15q26.1
• Summary: The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, whe

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146385147	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1567075176	C>A	Pathogenic	Splice acceptor variant
rs1567075667	CT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT648328	hsa-miR-8485	HITS-CLIP	23824327
MIRT648327	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT648324	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT648323	hsa-miR-3175	HITS-CLIP	23824327
MIRT648322	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648321	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT648320	hsa-miR-507	HITS-CLIP	23824327
MIRT648319	hsa-miR-557	HITS-CLIP	23824327
MIRT648318	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT648328	hsa-miR-8485	HITS-CLIP	23824327
MIRT648327	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT648325	hsa-miR-6777-5p	HITS-CLIP	23824327
MIRT648326	hsa-miR-6889-5p	HITS-CLIP	23824327
MIRT648324	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT648323	hsa-miR-3175	HITS-CLIP	23824327
MIRT648322	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648321	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT648320	hsa-miR-507	HITS-CLIP	23824327
MIRT648319	hsa-miR-557	HITS-CLIP	23824327
MIRT648318	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT648328	hsa-miR-8485	HITS-CLIP	23824327
MIRT648327	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT648324	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT648323	hsa-miR-3175	HITS-CLIP	23824327
MIRT648322	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648321	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT648320	hsa-miR-507	HITS-CLIP	23824327
MIRT648319	hsa-miR-557	HITS-CLIP	23824327
MIRT648318	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT648328	hsa-miR-8485	HITS-CLIP	23824327
MIRT648327	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT648325	hsa-miR-6777-5p	HITS-CLIP	23824327
MIRT648326	hsa-miR-6889-5p	HITS-CLIP	23824327
MIRT648324	hsa-miR-6878-5p	HITS-CLIP	23824327
MIRT648323	hsa-miR-3175	HITS-CLIP	23824327
MIRT648322	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648321	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT648320	hsa-miR-507	HITS-CLIP	23824327
MIRT648319	hsa-miR-557	HITS-CLIP	23824327
MIRT648318	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT1242762	hsa-miR-1284	CLIP-seq
MIRT1242763	hsa-miR-142-5p	CLIP-seq
MIRT1242764	hsa-miR-3074-3p	CLIP-seq
MIRT1242765	hsa-miR-4318	CLIP-seq
MIRT1242766	hsa-miR-4474-3p	CLIP-seq
MIRT1242767	hsa-miR-4796-5p	CLIP-seq
MIRT1242768	hsa-miR-659	CLIP-seq
MIRT1242769	hsa-miR-204	CLIP-seq
MIRT1242770	hsa-miR-211	CLIP-seq
MIRT1242771	hsa-miR-219-5p	CLIP-seq
MIRT1242772	hsa-miR-3920	CLIP-seq
MIRT1242773	hsa-miR-3973	CLIP-seq
MIRT1242774	hsa-miR-4445	CLIP-seq
MIRT1242775	hsa-miR-4755-5p	CLIP-seq
MIRT1242776	hsa-miR-4782-3p	CLIP-seq
MIRT1242777	hsa-miR-508-3p	CLIP-seq
MIRT1242778	hsa-miR-520g	CLIP-seq
MIRT1242779	hsa-miR-520h	CLIP-seq
MIRT1242780	hsa-miR-562	CLIP-seq
MIRT1242781	hsa-miR-623	CLIP-seq
MIRT2298878	hsa-miR-148a	CLIP-seq
MIRT2298879	hsa-miR-148b	CLIP-seq
MIRT2298880	hsa-miR-152	CLIP-seq
MIRT2298881	hsa-miR-1827	CLIP-seq
MIRT2298882	hsa-miR-2467-3p	CLIP-seq
MIRT2298883	hsa-miR-4276	CLIP-seq
MIRT2456689	hsa-miR-216b	CLIP-seq
MIRT2456690	hsa-miR-2278	CLIP-seq
MIRT2456691	hsa-miR-3978	CLIP-seq
MIRT2456692	hsa-miR-4261	CLIP-seq
MIRT2456693	hsa-miR-4427	CLIP-seq
MIRT2456694	hsa-miR-4680-3p	CLIP-seq
MIRT2456695	hsa-miR-4690-5p	CLIP-seq
MIRT2456696	hsa-miR-515-5p	CLIP-seq
MIRT2456697	hsa-miR-548c-3p	CLIP-seq
MIRT2456698	hsa-miR-553	CLIP-seq
MIRT2456699	hsa-miR-604	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Activation	17272828
RELA	Activation	17272828

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27832861
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	NAS	9521880
GO:0005811	Component	Lipid droplet	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	NAS	9521880
GO:0008289	Function	Lipid binding	NAS	9521880
GO:0016042	Process	Lipid catabolic process	IBA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0070417	Process	Cellular response to cold	IEA

Other IDs

• MIM: 170290
• HGNC: 9076
• e!Ensembl: ENSG00000166819

Protein

• UniProt ID: O60240
• Protein name: Perilipin-1 (Lipid droplet-associated protein)
• Protein function: Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03036	Perilipin	13 → 414	Perilipin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in adipocytes from white adipose tissue (at protein level) (PubMed:27832861). Detected in visceral adipose tissue and mammary gland (PubMed:9521880). {ECO:0000269|PubMed:27832861, ECO:0000269|PubMed:9521880}.
• Sequence:

  MAVNKGLTLLDGDLPEQENVLQRVLQLPVVSGTCECFQKTYTSTKEAHPLVASVCNAYEK
  GVQSASSLAAWSMEPVVRRLSTQFTAANELACRGLDHLEEKIPALQYPPEKIASELKDTI
  STRLRSARNSISVPIASTSDKVLGAALAGCELAWGVARDTAEFAANTRAGRLASGGADLA
  LGSIEKVVEYLLPPDKEESAPAPGHQQAQKSPKAKPSLLSRVGALTNTLSRYTVQTMARA
  LEQGHTVAMWIPGVVPLSSLAQWGASVAMQAVSRRRSEVRVPWLHSLAAAQEEDHEDQTD
  TEGEDTEEEEELETEENKFSEVAALPGPRGLLGGVAHTLQKTLQTTISAVTWAPAAVLGM
  AGRVLHLTPAPAVSSTKGRAMSLSDALKGVTDNVVDTVVHYVPLPRLSLMEPESEFRDID
  NPPAEVERREAERRASGAPSAGPEPAPRLAQPRRSLRSAQSPGAPPGPGLEDEVATPAAP
  RPGFPAVPREKPKRRVSDSFFRPSVMEPILGRTHYSQLRKKS

• Sequence length: 522

Pathways

KEGG:

PPAR signaling pathway
Apelin signaling pathway
Thermogenesis
Regulation of lipolysis in adipocytes

Reactome:

Transcriptional regulation of white adipocyte differentiation
NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose

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
PLIN1-related familial partial lipodystrophy	Pathogenic; Likely pathogenic	rs2141523598, rs2141525540, rs150822845, rs1567075176, rs1567075667, rs1964333023	RCV001837713 RCV001837714 RCV003990091 RCV000022703 RCV000022704 RCV001290184	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY KOBBERLING TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLIN1-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	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
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	28855400		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	25855981, 29407594		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25855981, 29407594		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	35662076	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25751270, 32110804, 33380715	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31292488	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20081801, 39215210	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28124996		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26663986		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34875679	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	35235652	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Thrombosis	Cerebral Thrombosis	BEFREE	18174481		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18174481		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31606201		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	34883250	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23517113, 31504636		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	25118138	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18356850, 31504636, 37843309	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23517113, 31504636		★☆☆☆☆ 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	18356850, 19782423, 27611592, 34883250, 35235652, 35886029	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18777456		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16732015, 18356850, 18777456, 22535977, 23111648, 30020498		★☆☆☆☆ Found in Text Mining only
Diabetic Foot	Diabetic foot	Pubtator	38453058	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	21345103	Associate	★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	30283460		★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	21865368, 23392103, 24152769, 25114292, 29747582, 30020498, 31504636		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial partial lipodystrophy	Partial Lipodystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 1	Partial Lipodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	17567458, 23392103, 27941027		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	36611868	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	32803726	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	37181035	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	19797618, 31504636		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	31504636	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	15601966, 35235652	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	15601966		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	37843309	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29720336		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29348564	Stimulate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21193293, 21345103, 22949029, 28860604, 30020498, 31504636, 37843309	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	18174481		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	29348564	Associate	★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	21345103, 30940487, 31504636, 35235652	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	21392585, 30020498, 31135595, 31504636		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	21345103, 31504636	Associate	★☆☆☆☆ Found in Text Mining only
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4	Lipodystrophy	ORPHANET_DG	21345103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4	Lipodystrophy	GENOMICS_ENGLAND_DG	25695774, 30020498		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4	Lipodystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liposarcoma	Liposarcoma	Pubtator	20081801, 25650275, 31125552	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	27646609, 30221658, 31125552		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	31125552	Stimulate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	31125552		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Pleomorphic	liposarcoma	BEFREE	31125552		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	25650275		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28830524		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	32803726	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	18326614, 18812483	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17353663, 18326614, 18812483, 23392103		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35235652	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36931749	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25751270		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12802495, 15001633, 15078502, 15355432, 15601966, 15601970, 15770500, 15985482, 17353663, 18326614, 18356850, 18777456, 18806092, 18812483, 18855084, 19385027, 19399648, 19782423, 19797618, 20163070, 20495294, 23035807, 24126816, 25529448, 27611592, 28274232, 28651828, 28860604, 29704545, 30741926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	12917496, 15078502, 15601966, 15601970, 18326614, 18356850, 18806092, 18812483, 19782423, 19850727, 20495294, 21285405, 27611592, 27629052, 28274232, 28627196, 28860604, 34208363, 35893926, 36931749, 37843309	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	15001633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	20017959, 22836687	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity, Morbid	Obesity	BEFREE	12917496		★☆☆☆☆ Found in Text Mining only
Oculo-dento-digital syndrome	Oculodentodigital dysplasia	BEFREE	31514306		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	29688805		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29191221		★☆☆☆☆ Found in Text Mining only
Partial lipodystrophy	Partial Lipodystrophy	BEFREE	21345103, 30020498		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	31851864		★☆☆☆☆ Found in Text Mining only
PLIN1-related familial partial lipodystrophy	Partial Lipodystrophy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19782423		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19782423, 31504636, 33228780	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25342854	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	34883250	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	25650275, 27646609, 31125552		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	17567458, 23392103, 27941027		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis of cerebral veins	Thrombosis	BEFREE	18174481		★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	20471263		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25751270	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31537618		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31537618	Associate	★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only