PTH1R (parathyroid hormone 1 receptor)

Gene

• Entrez ID: 5745
• Gene name: Parathyroid hormone 1 receptor
• Gene symbol: PTH1R
• Synonyms (NCBI Gene): EKNS, PFE, PTHR, PTHR1
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins whi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434597	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434598	A>C	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121434599	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434600	T>G	Pathogenic	Missense variant, coding sequence variant
rs121434602	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121434603	C>T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121434604	C>T	Pathogenic	Stop gained, coding sequence variant
rs121434605	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs398122843	G>A	Pathogenic	Missense variant, coding sequence variant
rs769180471	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs1575524795	C>G	Pathogenic	Intron variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	9745456
GO:0001503	Process	Ossification	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IDA	35932760
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004991	Function	Parathyroid hormone receptor activity	IBA
GO:0004991	Function	Parathyroid hormone receptor activity	IDA	8397094, 19674967, 30975883, 35932760
GO:0004991	Function	Parathyroid hormone receptor activity	IEA
GO:0004991	Function	Parathyroid hormone receptor activity	TAS	9927325
GO:0005515	Function	Protein binding	IPI	19674967, 23124878, 32296183
GO:0005634	Component	Nucleus	TAS	10709993
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	TAS	10709993
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19674967
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	8397094
GO:0005886	Component	Plasma membrane	TAS	9745456
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	9745456
GO:0007187	Process	G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS	9927325
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IDA	19674967
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	17110384
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	8397094, 27160269, 30975883, 35932760
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IC	19608645
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IDA	19674967
GO:0030282	Process	Bone mineralization	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	27160269
GO:0043235	Component	Receptor complex	ISS
GO:0045453	Process	Bone resorption	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0060732	Process	Positive regulation of inositol phosphate biosynthetic process	ISS

Other IDs

• MIM: 168468
• HGNC: 9608
• e!Ensembl: ENSG00000160801

Protein

• UniProt ID: Q03431
• Protein name: Parathyroid hormone/parathyroid hormone-related peptide receptor (PTH/PTHrP type I receptor) (PTH/PTHr receptor) (Parathyroid hormone 1 receptor) (PTH1 receptor)
• Protein function: G-protein-coupled receptor for parathyroid hormone (PTH) and for parathyroid hormone-related peptide (PTHLH) (PubMed:10913300, PubMed:18375760, PubMed:19674967, PubMed:27160269, PubMed:30975883, PubMed:35932760, PubMed:8397094). Ligand binding c
• PDB: 1BL1, 3C4M, 3H3G, 3L2J, 4Z8J, 5EMB, 6NBF, 6NBH, 6NBI, 7UZO, 7UZP, 7VVJ, 7VVK, 7VVL, 7VVM, 7VVN, 7VVO, 7Y35, 7Y36, 8BIA, 8BJ0, 8D51, 8D52, 8FLQ, 8FLR, 8FLS, 8FLT, 8FLU, 8GW8, 8HA0, 8HAF, 8HAO, 8JR9, 9JR2, 9JR3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02793	HRM	105 → 173	Hormone receptor domain	Family
  PF00002	7tm_2	184 → 455	7 transmembrane receptor (Secretin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in most tissues. Most abundant in kidney, bone and liver. {ECO:0000269|PubMed:8397094}.
• Sequence:

  MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPA
  SIMESDKGWTSASTSGKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPL
  GAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNGSWELVPGHNRTWANYSECVKFLTNETRE
  REVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCTRNYIHMHLFLSFMLRAVSIFVK
  DAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAGCRVAVTFFLYFLATNYYWIL
  VEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTGCWDLSSGNKK
  WIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVH
  YIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAIIYCFCNGEVQAEIKKSWSRWTLA
  LDFKRKARSGSSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPTATTNGHPQLPGHAKP
  GTPALETLETTPPAMAAPKDDGFLNGSCSGLDEEASGPERPPALLQEEWETVM

• Sequence length: 593

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Parathyroid hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption

Reactome:

Class B/2 (Secretin family receptors)
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

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
Chondrodysplasia Blomstrand type	Pathogenic	rs398122843, rs121434599, rs1304201852, rs121434604, rs2107055197	RCV000014751 RCV000014752 RCV000014753 RCV000014757 RCV000014758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Eiken syndrome	Pathogenic	rs121434599, rs121434603	RCV002482867 RCV000014756	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metaphyseal chondrodysplasia, Jansen type	Pathogenic; Likely pathogenic	rs121434600, rs121434597, rs121434598, rs121434599, rs121434602, rs769180471	RCV001332362 RCV000014749 RCV000014750 RCV002482867 RCV000014754 RCV000014755 RCV003992376	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary failure of tooth eruption	Pathogenic; Likely pathogenic	rs2107039234, rs1575522892, rs2545050758, rs121434597, rs121434599, rs1575524795, rs2107035467, rs121434605, rs769180471	RCV002250276 RCV002289254 RCV003224790 RCV002247338 RCV002482867 RCV000014759 RCV000014760 RCV000014761 RCV000723315	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism	Likely pathogenic	rs2107040144	RCV002225936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BLOMSTRAND LETHAL CHONDRODYSPLASIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type E1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE E1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia	Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHONDRODYSPLASIA, BLOMSTRAND TYPE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EIKEN SKELETAL DYSPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPARATHYROIDISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal chondrodysplasia	Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PTH1R-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RICKETS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28474257		★☆☆☆☆ Found in Text Mining only
Blomstrand lethal chondrodysplasia	Blomstrand Lethal Chondrodysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	11012879, 25354236	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	21082660		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21312071, 30151009		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10606734, 7599071, 9376272	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	19723327	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrodysplasia blomstrand type	Chondrodysplasia	Pubtator	19061984, 24058597, 37840415, 9649554	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chondrodysplasia, blomstrand type	Chondrodysplasia Punctata	BEFREE	17164305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, blomstrand type	Chondrodysplasia Punctata	GENOMICS_ENGLAND_DG	8723092, 9745456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, blomstrand type	Chondrodysplasia Punctata	ORPHANET_DG	9649554, 9745456, 9832466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, blomstrand type	Chondrodysplasia Punctata	UNIPROT_DG	9745456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, blomstrand type	Chondrodysplasia Punctata	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, blomstrand type	Chondrodysplasia Punctata	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondroma	Chordoma	Pubtator	37840415	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	15523647		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	15685701	Stimulate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10912527		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28318623, 29529595		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27415614	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17276526		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34790819	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24300310, 29156945		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21312071		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	11012879	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21312071		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	28954822	Associate	★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	30038820		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	ORPHANET_DG	11850620, 18559376		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	35203352	Associate	★☆☆☆☆ Found in Text Mining only
Eiken Skeletal Dysplasia	Eiken Skeletal Dysplasia	ORPHANET_DG	15525660		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eiken Skeletal Dysplasia	Eiken Skeletal Dysplasia	BEFREE	29987841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eiken Skeletal Dysplasia	Eiken skeletal dysplasia	Pubtator	37840415	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eiken Skeletal Dysplasia	Eiken Skeletal Dysplasia	GENOMICS_ENGLAND_DG	9745456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eiken Skeletal Dysplasia	Eiken Skeletal Dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eiken Skeletal Dysplasia	Eiken Skeletal Dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eiken syndrome	Eiken Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Enchondroma	Enchondroma	BEFREE	15523647, 18559376, 20661403		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	BEFREE	11850620, 15523647, 18559376, 20661403, 21082660		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	LHGDN	11850620, 15523647		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	ORPHANET_DG	11850620, 18559376		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	UNIPROT_DG	11850620		★☆☆☆☆ Found in Text Mining only
Enchondromatosis	Enchondromatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Failure of Tooth Eruption, Primary	Failure Of Tooth Eruption	ORPHANET_DG	19061984, 20830195, 23910200		★☆☆☆☆ Found in Text Mining only
Failure of Tooth Eruption, Primary	Failure Of Tooth Eruption	GENOMICS_ENGLAND_DG	9745456		★☆☆☆☆ Found in Text Mining only
Failure of Tooth Eruption, Primary	Failure Of Tooth Eruption	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Failure of Tooth Eruption, Primary	Failure Of Tooth Eruption	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	34788508	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	29788189, 37840415	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	14871409	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Humoral hypercalcemia of malignancy (disorder)	Humoral Hypercalcemia Of Malignancy	BEFREE	29278884		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	27410178, 29278884, 29788189, 30641526		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	27410178, 29788189, 7797535, 9447281	Associate	★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	29788189	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	CTD_human_DG	11014383		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperparathyroidism 2	Hyperparathyroidism	Pubtator	11277262	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	29993278		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	30975883		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	28474257		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27415614		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30038820		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	21312071		★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	UNIPROT_DG	10487664, 15240651, 27160269, 7701349, 8703170, 9178745		★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	BEFREE	27160269		★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal chondrodysplasia	Pubtator	27410178, 29788189, 30232230, 37840415, 8703170, 9447281, 9649554	Associate	★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	ORPHANET_DG	7701349, 8703170		★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	GENOMICS_ENGLAND_DG	9745456		★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Jansen type metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	10912527		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	11012879, 25604159	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10912527		★☆☆☆☆ Found in Text Mining only
Laryngeal calcification	Laryngeal calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	35761298	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	12201218	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29278884		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	CTD_human_DG	20857298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphangioma	Lymphangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21312071, 30151009		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12592371		★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28901272		★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	BEFREE	12357475, 27410178, 30641526, 31430259		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Metaphyseal chondrodysplasia, Jansen type	Metaphyseal Chondrodysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	LHGDN	18261460		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23787729	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16081513, 18559376, 25043296, 29121993, 29278884, 30151009		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31293052		★☆☆☆☆ Found in Text Mining only
Ollier disease	Ollier Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Osseous ankylosis	Osseous Ankylosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	11315999	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24300310	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	29987841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	15744035, 23028809, 28424452, 28680788, 29064243, 29952553, 30975883, 31670461		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	15744035, 34977236, 35203352	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	22312238, 29260289		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15517871, 17410535, 18202147, 25043296, 28721611, 28934958, 29121993, 29366883, 31536386		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	16475708, 30978523, 35635031	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	17410535		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15609321		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	35203352	Associate	★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary failure of tooth eruption	Failure Of Tooth Eruption	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	25843330	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	BEFREE	11238537, 27415614		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	Pubtator	27415614	Associate	★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	BEFREE	8823526		★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	BEFREE	23950054		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	14729622		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	16081513		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	CTD_human_DG	10375030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sacral agenesis	Sacral Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	29987841		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35761298	Associate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	27960131		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33316777	Associate	★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	16213899		★☆☆☆☆ Found in Text Mining only
Tooth Abnormalities	Tooth abnormalities	Pubtator	37840415	Associate	★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	14871409		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	14871409	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	25604159	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Overactive	Overactive bladder	Pubtator	25604159	Associate	★☆☆☆☆ Found in Text Mining only
Visceral angiomatosis	Visceral angiomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only