Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	3953
Gene name	Leptin receptor
Gene symbol	LEPR
Synonyms (NCBI Gene)	CD295LEP-RLEPRDOB-ROBR
Chromosome	1
Chromosome location	1p31.3
Summary	The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulate

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144159890	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922650	C>G,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs765551290	A>T	Pathogenic	Stop gained, coding sequence variant
rs945135468	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs1446132233	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1474810899	G>A,T	Pathogenic	Splice donor variant
rs1553174844	->AG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1557670950	A>C	Pathogenic	Coding sequence variant, missense variant
rs1557670990	A>-	Pathogenic	Coding sequence variant, frameshift variant

120

Show/Hide all (120)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017009	hsa-miR-335-5p	Microarray	18185580
MIRT037290	hsa-miR-877-5p	CLASH	23622248
MIRT1107495	hsa-miR-1245	CLIP-seq
MIRT1107496	hsa-miR-129-5p	CLIP-seq
MIRT1107497	hsa-miR-142-3p	CLIP-seq
MIRT1107498	hsa-miR-1914	CLIP-seq
MIRT1107499	hsa-miR-204	CLIP-seq
MIRT1107500	hsa-miR-211	CLIP-seq
MIRT1107501	hsa-miR-3137	CLIP-seq
MIRT1107502	hsa-miR-3940-5p	CLIP-seq
MIRT1107503	hsa-miR-4265	CLIP-seq
MIRT1107504	hsa-miR-4287	CLIP-seq
MIRT1107505	hsa-miR-4296	CLIP-seq
MIRT1107506	hsa-miR-4322	CLIP-seq
MIRT1107507	hsa-miR-433	CLIP-seq
MIRT1107508	hsa-miR-4417	CLIP-seq
MIRT1107509	hsa-miR-4469	CLIP-seq
MIRT1107510	hsa-miR-4507	CLIP-seq
MIRT1107511	hsa-miR-450b-5p	CLIP-seq
MIRT1107512	hsa-miR-4685-3p	CLIP-seq
MIRT1107513	hsa-miR-4760-5p	CLIP-seq
MIRT1107514	hsa-miR-507	CLIP-seq
MIRT1107515	hsa-miR-557	CLIP-seq
MIRT1107516	hsa-miR-3671	CLIP-seq
MIRT1107517	hsa-miR-3674	CLIP-seq
MIRT1107518	hsa-miR-3941	CLIP-seq
MIRT1107519	hsa-miR-425	CLIP-seq
MIRT1107520	hsa-miR-4643	CLIP-seq
MIRT1107521	hsa-miR-4659a-3p	CLIP-seq
MIRT1107522	hsa-miR-4659b-3p	CLIP-seq
MIRT1107523	hsa-miR-466	CLIP-seq
MIRT1107524	hsa-miR-4672	CLIP-seq
MIRT1107525	hsa-miR-4680-3p	CLIP-seq
MIRT1107526	hsa-miR-4732-5p	CLIP-seq
MIRT1107513	hsa-miR-4760-5p	CLIP-seq
MIRT1107527	hsa-miR-4789-3p	CLIP-seq
MIRT1107528	hsa-miR-4789-5p	CLIP-seq
MIRT1107529	hsa-miR-607	CLIP-seq
MIRT1550704	hsa-miR-105	CLIP-seq
MIRT1550705	hsa-miR-1182	CLIP-seq
MIRT1550706	hsa-miR-200b	CLIP-seq
MIRT1550707	hsa-miR-200c	CLIP-seq
MIRT1550708	hsa-miR-205	CLIP-seq
MIRT1550709	hsa-miR-3120-5p	CLIP-seq
MIRT1550710	hsa-miR-3154	CLIP-seq
MIRT1550711	hsa-miR-3661	CLIP-seq
MIRT1550712	hsa-miR-3668	CLIP-seq
MIRT1107516	hsa-miR-3671	CLIP-seq
MIRT1107517	hsa-miR-3674	CLIP-seq
MIRT1550713	hsa-miR-4274	CLIP-seq
MIRT1550714	hsa-miR-429	CLIP-seq
MIRT1550715	hsa-miR-451b	CLIP-seq
MIRT1107526	hsa-miR-4732-5p	CLIP-seq
MIRT1550716	hsa-miR-4766-5p	CLIP-seq
MIRT1550717	hsa-miR-4793-5p	CLIP-seq
MIRT1550718	hsa-miR-548a-3p	CLIP-seq
MIRT1550719	hsa-miR-548e	CLIP-seq
MIRT1550720	hsa-miR-548f	CLIP-seq
MIRT1107529	hsa-miR-607	CLIP-seq
MIRT1550721	hsa-miR-622	CLIP-seq
MIRT1550722	hsa-miR-631	CLIP-seq
MIRT1920585	hsa-miR-374a	CLIP-seq
MIRT1920586	hsa-miR-374b	CLIP-seq
MIRT1920587	hsa-miR-4289	CLIP-seq
MIRT1920585	hsa-miR-374a	CLIP-seq
MIRT1920586	hsa-miR-374b	CLIP-seq
MIRT1920587	hsa-miR-4289	CLIP-seq
MIRT2029691	hsa-miR-3160-5p	CLIP-seq
MIRT2029692	hsa-miR-371-5p	CLIP-seq
MIRT2029693	hsa-miR-371b-5p	CLIP-seq
MIRT2029694	hsa-miR-513c	CLIP-seq
MIRT2029695	hsa-miR-514b-5p	CLIP-seq
MIRT1550706	hsa-miR-200b	CLIP-seq
MIRT1550707	hsa-miR-200c	CLIP-seq
MIRT2260575	hsa-miR-30a	CLIP-seq
MIRT2260576	hsa-miR-30b	CLIP-seq
MIRT2260577	hsa-miR-30c	CLIP-seq
MIRT2260578	hsa-miR-30d	CLIP-seq
MIRT2260579	hsa-miR-30e	CLIP-seq
MIRT2260580	hsa-miR-34b	CLIP-seq
MIRT2260581	hsa-miR-3654	CLIP-seq
MIRT2260582	hsa-miR-377	CLIP-seq
MIRT2260583	hsa-miR-378	CLIP-seq
MIRT2260584	hsa-miR-378b	CLIP-seq
MIRT2260585	hsa-miR-378c	CLIP-seq
MIRT2260586	hsa-miR-378d	CLIP-seq
MIRT2260587	hsa-miR-378e	CLIP-seq
MIRT2260588	hsa-miR-378f	CLIP-seq
MIRT2260589	hsa-miR-378h	CLIP-seq
MIRT2260590	hsa-miR-378i	CLIP-seq
MIRT2260591	hsa-miR-422a	CLIP-seq
MIRT1550714	hsa-miR-429	CLIP-seq
MIRT2260592	hsa-miR-4495	CLIP-seq
MIRT2260593	hsa-miR-4641	CLIP-seq
MIRT2260594	hsa-miR-4666-3p	CLIP-seq
MIRT2260595	hsa-miR-4760-3p	CLIP-seq
MIRT2260596	hsa-miR-485-3p	CLIP-seq
MIRT2260597	hsa-miR-586	CLIP-seq
MIRT2560596	hsa-miR-1305	CLIP-seq
MIRT2560597	hsa-miR-191	CLIP-seq
MIRT1550710	hsa-miR-3154	CLIP-seq
MIRT2560598	hsa-miR-34c-3p	CLIP-seq
MIRT1107517	hsa-miR-3674	CLIP-seq
MIRT2560599	hsa-miR-4670-3p	CLIP-seq
MIRT1107526	hsa-miR-4732-5p	CLIP-seq
MIRT2560600	hsa-miR-498	CLIP-seq
MIRT1550718	hsa-miR-548a-3p	CLIP-seq
MIRT1550719	hsa-miR-548e	CLIP-seq
MIRT1550720	hsa-miR-548f	CLIP-seq
MIRT2560601	hsa-miR-570	CLIP-seq
MIRT2560602	hsa-miR-642b	CLIP-seq
MIRT2560596	hsa-miR-1305	CLIP-seq
MIRT2560597	hsa-miR-191	CLIP-seq
MIRT2560598	hsa-miR-34c-3p	CLIP-seq
MIRT2560599	hsa-miR-4670-3p	CLIP-seq
MIRT2560600	hsa-miR-498	CLIP-seq
MIRT1550718	hsa-miR-548a-3p	CLIP-seq
MIRT1550719	hsa-miR-548e	CLIP-seq
MIRT1550720	hsa-miR-548f	CLIP-seq
MIRT2560601	hsa-miR-570	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IMP	21771332
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	9537324
GO:0004896	Function	Cytokine receptor activity	IBA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	11279102, 16482222, 17474147, 18042720, 19910644, 20347812, 22405007, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006112	Process	Energy reserve metabolic process	TAS	9537324
GO:0006909	Process	Phagocytosis	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9537324
GO:0007275	Process	Multicellular organism development	TAS	9537324
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0010507	Process	Negative regulation of autophagy	IDA	25060689
GO:0014009	Process	Glial cell proliferation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0017046	Function	Peptide hormone binding	IPI	27037668
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019953	Process	Sexual reproduction	IEA
GO:0019953	Process	Sexual reproduction	ISS
GO:0019955	Function	Cytokine binding	IBA
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	ISS
GO:0033210	Process	Leptin-mediated signaling pathway	IDA	27037668
GO:0033210	Process	Leptin-mediated signaling pathway	IEA
GO:0033210	Process	Leptin-mediated signaling pathway	ISS
GO:0038021	Function	Leptin receptor activity	IDA	20977476, 27037668
GO:0038021	Function	Leptin receptor activity	IEA
GO:0038021	Function	Leptin receptor activity	ISS
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042802	Function	Identical protein binding	IPI	20347812
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0044321	Process	Response to leptin	IEA
GO:0044321	Process	Response to leptin	ISS
GO:0045721	Process	Negative regulation of gluconeogenesis	IEA
GO:0046850	Process	Regulation of bone remodeling	IEA
GO:0046850	Process	Regulation of bone remodeling	ISS
GO:0048731	Process	System development	IEA
GO:0051049	Process	Regulation of transport	IDA	20977476
GO:0060259	Process	Regulation of feeding behavior	IEA
GO:0060259	Process	Regulation of feeding behavior	ISS
GO:0097009	Process	Energy homeostasis	IEA
GO:0097009	Process	Energy homeostasis	ISS
GO:0097696	Process	Cell surface receptor signaling pathway via STAT	IDA	27037668
GO:0098868	Process	Bone growth	IEA
GO:0098868	Process	Bone growth	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	11003997
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653

MIM	HGNC	e!Ensembl
601007	6554	ENSG00000116678

P48357

Protein name

Leptin receptor (LEP-R) (HuB219) (OB receptor) (OB-R) (CD antigen CD295)

Protein function

Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP

PDB

3V6O , 6E2P , 7Z3Q , 8AVE , 8AVF , 8AVO , 8X80 , 8X81 , 8X85

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18589	ObR_Ig	126 → 233	Obesity receptor immunoglobulin like domain	Domain
PF06328	Lep_receptor_Ig	329 → 420	Ig-like C2-type domain	Domain
PF18589	ObR_Ig	431 → 533	Obesity receptor immunoglobulin like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform A is expressed in fetal liver and in hematopoietic tissues and choroid plexus. In adults highest expression in heart, liver, small intestine, prostate and ovary. Low level in lung and kidney. Isoform B is highly expressed in hy

Sequence

MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNS
NGHYETAVEPKFNSSGTHFSNLSKTTFHCCFRSEQDRNCSLCADNIEGKTFVSTVNSLVF
QQIDANWNIQCWLKGDLKLFICYVESLFKNLFRNYNYKVHLLYVLPEVLEDSPLVPQKGS
FQMVHCNCSVHECCECLVPVPTAKLNDTLLMCLKITSGGVIFQSPLMSVQPINMVKPDPP
LGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILP
GSSYEVQVRGKRLDGPGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKI
VPSKEIVWWMNLAEKIPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHH
RYAELYVIDVNINISCETDGYLTKMTCRWSTSTIQSLAESTLQLRYHRSSLYCSDIPSIH
PISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPP
SSVKAEITINIGLLKISWEKPVFPENNLQFQIRYGLSGKEVQWKMYEVYDAKSKSVSLPV
PDLCAVYAVQVRCKRLDGLGYWSNWSNPAYTVVMDIKVPMRGPEFWRIINGDTMKKEKNV
TLLWKPLMKNDSLCSVQRYVINHHTSCNGTWSEDVGNHTKFTFLWTEQAHTVTVLAINSI
GASVANFNLTFSWPMSKVNIVQSLSAYPLNSSCVIVSWILSPSDYKLMYFIIEWKNLNED
GEIKWLRISSSVKKYYIHDHFIPIEKYQFSLYPIFMEGVGKPKIINSFTQDDIEKHQSDA
GLYVIVPVIISSSILLLGTLLISHQRMKKLFWEDVPNPKNCSWAQGLNFQKPETFEHLFI
KHTASVTCGPLLLEPETISEDISVDTSWKNKDEMMPTTVVSLLSTTDLEKGSVCISDQFN
SVNFSEAEGTEVTYEDESQRQPFVKYATLISNSKPSETGEEQGLINSSVTKCFSSKNSPL
KDSFSNSSWEIEAQAFFILSDQHPNIISPHLTFSEGLDELLKLEGNFPEENNDKKSIYYL
GVTSIKKRESGVLLTDKSRVSCPFPAPCLFTDIRVLQDSCSHFVENNINLGTSSKKTFAS
YMPQFQTCSTQTHKIMENKMCDLTV

Sequence length

1165

Interactions

View interactions

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Early onset severe obesity	Likely pathogenic	rs2100932956	RCV006280922	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEPR-related disorder	Likely pathogenic; Pathogenic	rs1469336975, rs945135468, rs1557670990, rs144159890	RCV004531970 RCV004735562 RCV004735783 RCV000778251	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Likely pathogenic	rs193922650	RCV000030138	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity due to congenital leptin deficiency	Likely pathogenic	rs866641122	RCV004577246	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity due to leptin receptor gene deficiency	Likely pathogenic; Pathogenic	rs757358893, rs1474810899, rs1553174844, rs1557670950, rs144159890	RCV002226617 RCV000009048 RCV000626385 RCV000760143 RCV002250694	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (76)

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	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES, GESTATIONAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIAS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, RIGHT VENTRICULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPR POLYMORPHISM	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic Non-Syndromic Obesity	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC STEATOHEPATITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY, MORBID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral precocious puberty	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY TRACT INFECTIONS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIGHT VENTRICULAR HYPERTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA, OBSTRUCTIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR DYSFUNCTION, LEFT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

LEPR (leptin receptor)