TACR3 (tachykinin receptor 3)

Gene

• Entrez ID: 6870
• Gene name: Tachykinin receptor 3
• Gene symbol: TACR3
• Synonyms (NCBI Gene): HH11, NK-3R, NK3, NK3R, NKR, TAC3R, TAC3RL
• Chromosome: 4
• Chromosome location: 4q24
• Summary: This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5`-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918124	C>G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs121918125	G>A,C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs144292455	C>T	Pathogenic	Stop gained, coding sequence variant
rs201195175	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs397515483	A>G	Pathogenic	Coding sequence variant, missense variant
rs727505375	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs760022956	C>T	Pathogenic	Splice donor variant
rs764659822	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs772508077	A>G,T	Uncertain-significance, pathogenic	Splice donor variant
rs1578272223	GC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017215	hsa-miR-335-5p	Microarray	18185580
MIRT685149	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT685148	hsa-miR-130b-5p	HITS-CLIP	23313552
MIRT685147	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT685146	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT685145	hsa-miR-4711-3p	HITS-CLIP	23313552
MIRT685144	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT685143	hsa-miR-4753-3p	HITS-CLIP	23313552
MIRT685142	hsa-miR-6844	HITS-CLIP	23313552
MIRT685141	hsa-miR-675-3p	HITS-CLIP	23313552
MIRT685140	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT685139	hsa-miR-3149	HITS-CLIP	23313552
MIRT685138	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT509835	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509834	hsa-miR-570-3p	PAR-CLIP	21572407
MIRT509833	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509832	hsa-miR-3924	PAR-CLIP	21572407
MIRT509831	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT509830	hsa-miR-335-3p	PAR-CLIP	21572407
MIRT509829	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509828	hsa-miR-4528	PAR-CLIP	21572407
MIRT509835	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509834	hsa-miR-570-3p	PAR-CLIP	23446348
MIRT509833	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509832	hsa-miR-3924	PAR-CLIP	23446348
MIRT509831	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT509830	hsa-miR-335-3p	PAR-CLIP	23446348
MIRT509829	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509828	hsa-miR-4528	PAR-CLIP	23446348
MIRT509835	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509834	hsa-miR-570-3p	PAR-CLIP	23446348
MIRT509833	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509832	hsa-miR-3924	PAR-CLIP	23446348
MIRT509831	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT509830	hsa-miR-335-3p	PAR-CLIP	23446348
MIRT509829	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509828	hsa-miR-4528	PAR-CLIP	23446348
MIRT459516	hsa-miR-3925-5p	PAR-CLIP	23592263
MIRT459515	hsa-miR-3125	PAR-CLIP	23592263
MIRT459514	hsa-miR-3916	PAR-CLIP	23592263
MIRT459513	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT459512	hsa-miR-5190	PAR-CLIP	23592263
MIRT459511	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT459510	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT459509	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT459508	hsa-miR-5194	PAR-CLIP	23592263
MIRT459507	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT459506	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT459504	hsa-miR-8085	PAR-CLIP	23592263
MIRT459505	hsa-miR-3175	PAR-CLIP	23592263
MIRT459503	hsa-miR-4276	PAR-CLIP	23592263
MIRT459502	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT459501	hsa-miR-30a-3p	PAR-CLIP	23592263
MIRT459500	hsa-miR-30d-3p	PAR-CLIP	23592263
MIRT459499	hsa-miR-30e-3p	PAR-CLIP	23592263
MIRT459498	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT447031	hsa-miR-3662	PAR-CLIP	22100165
MIRT447030	hsa-miR-1252-3p	PAR-CLIP	22100165
MIRT447029	hsa-miR-4698	PAR-CLIP	22100165
MIRT447028	hsa-miR-1283	PAR-CLIP	22100165
MIRT447027	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447026	hsa-miR-578	PAR-CLIP	22100165
MIRT685148	hsa-miR-130b-5p	HITS-CLIP	27418678
MIRT685139	hsa-miR-3149	HITS-CLIP	27418678
MIRT685139	hsa-miR-3149	HITS-CLIP	27418678
MIRT685145	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT685145	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT685145	hsa-miR-4711-3p	HITS-CLIP	27418678
MIRT685143	hsa-miR-4753-3p	HITS-CLIP	27418678
MIRT685149	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT685149	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT685138	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685138	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685138	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT685146	hsa-miR-593-3p	HITS-CLIP	27418678
MIRT685141	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT685141	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT685140	hsa-miR-6818-3p	HITS-CLIP	27418678
MIRT685142	hsa-miR-6844	HITS-CLIP	27418678
MIRT685144	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685144	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685144	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT685147	hsa-miR-6895-3p	HITS-CLIP	27418678
MIRT685149	hsa-miR-511-3p	HITS-CLIP	23313552
MIRT685148	hsa-miR-130b-5p	HITS-CLIP	23313552
MIRT685147	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT685146	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT685145	hsa-miR-4711-3p	HITS-CLIP	23313552
MIRT685144	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT685143	hsa-miR-4753-3p	HITS-CLIP	23313552
MIRT685142	hsa-miR-6844	HITS-CLIP	23313552
MIRT685141	hsa-miR-675-3p	HITS-CLIP	23313552
MIRT685140	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT685139	hsa-miR-3149	HITS-CLIP	23313552
MIRT685138	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT509835	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509834	hsa-miR-570-3p	PAR-CLIP	21572407
MIRT509833	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509832	hsa-miR-3924	PAR-CLIP	21572407
MIRT509831	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT509830	hsa-miR-335-3p	PAR-CLIP	21572407
MIRT509829	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509828	hsa-miR-4528	PAR-CLIP	21572407
MIRT509835	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509834	hsa-miR-570-3p	PAR-CLIP	23446348
MIRT509833	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509832	hsa-miR-3924	PAR-CLIP	23446348
MIRT509831	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT509830	hsa-miR-335-3p	PAR-CLIP	23446348
MIRT509829	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509828	hsa-miR-4528	PAR-CLIP	23446348
MIRT509835	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509834	hsa-miR-570-3p	PAR-CLIP	23446348
MIRT509833	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509832	hsa-miR-3924	PAR-CLIP	23446348
MIRT509831	hsa-miR-5007-3p	PAR-CLIP	23446348
MIRT509830	hsa-miR-335-3p	PAR-CLIP	23446348
MIRT509829	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509828	hsa-miR-4528	PAR-CLIP	23446348
MIRT459516	hsa-miR-3925-5p	PAR-CLIP	23592263
MIRT459515	hsa-miR-3125	PAR-CLIP	23592263
MIRT459514	hsa-miR-3916	PAR-CLIP	23592263
MIRT459513	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT459512	hsa-miR-5190	PAR-CLIP	23592263
MIRT459511	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT459510	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT459509	hsa-miR-1914-3p	PAR-CLIP	23592263
MIRT459508	hsa-miR-5194	PAR-CLIP	23592263
MIRT459507	hsa-miR-6738-5p	PAR-CLIP	23592263
MIRT459506	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT459504	hsa-miR-8085	PAR-CLIP	23592263
MIRT459505	hsa-miR-3175	PAR-CLIP	23592263
MIRT459503	hsa-miR-4276	PAR-CLIP	23592263
MIRT459502	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT459501	hsa-miR-30a-3p	PAR-CLIP	23592263
MIRT459500	hsa-miR-30d-3p	PAR-CLIP	23592263
MIRT459499	hsa-miR-30e-3p	PAR-CLIP	23592263
MIRT459498	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT447031	hsa-miR-3662	PAR-CLIP	22100165
MIRT447030	hsa-miR-1252-3p	PAR-CLIP	22100165
MIRT447029	hsa-miR-4698	PAR-CLIP	22100165
MIRT447028	hsa-miR-1283	PAR-CLIP	22100165
MIRT447027	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT447026	hsa-miR-578	PAR-CLIP	22100165
MIRT1408558	hsa-miR-151-3p	CLIP-seq
MIRT1408559	hsa-miR-4463	CLIP-seq
MIRT1408560	hsa-miR-4499	CLIP-seq
MIRT1408561	hsa-miR-615-5p	CLIP-seq
MIRT1408562	hsa-miR-767-5p	CLIP-seq
MIRT2122550	hsa-miR-4652-3p	CLIP-seq
MIRT2122551	hsa-miR-4777-5p	CLIP-seq
MIRT2122552	hsa-miR-518d-5p	CLIP-seq
MIRT2122553	hsa-miR-519b-5p	CLIP-seq
MIRT2122554	hsa-miR-519c-5p	CLIP-seq
MIRT2122555	hsa-miR-520c-5p	CLIP-seq
MIRT2122556	hsa-miR-526a	CLIP-seq
MIRT2122550	hsa-miR-4652-3p	CLIP-seq
MIRT2122551	hsa-miR-4777-5p	CLIP-seq
MIRT2122552	hsa-miR-518d-5p	CLIP-seq
MIRT2122553	hsa-miR-519b-5p	CLIP-seq
MIRT2122554	hsa-miR-519c-5p	CLIP-seq
MIRT2122555	hsa-miR-520c-5p	CLIP-seq
MIRT2122556	hsa-miR-526a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004995	Function	Tachykinin receptor activity	IBA
GO:0004995	Function	Tachykinin receptor activity	IEA
GO:0004995	Function	Tachykinin receptor activity	TAS	8990205
GO:0005515	Function	Protein binding	IPI	12716968, 23597562
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1374246
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007217	Process	Tachykinin receptor signaling pathway	TAS	8990205
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0016020	Component	Membrane	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032590	Component	Dendrite membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0042053	Process	Regulation of dopamine metabolic process	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0045777	Process	Positive regulation of blood pressure	IEA
GO:0060259	Process	Regulation of feeding behavior	IEA
GO:0070474	Process	Positive regulation of uterine smooth muscle contraction	IEA
GO:0097225	Component	Sperm midpiece	IBA
GO:0097225	Component	Sperm midpiece	IDA	17437961
GO:0097225	Component	Sperm midpiece	IEA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IBA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IEA
GO:1902093	Process	Positive regulation of flagellated sperm motility	IMP	17437961

Other IDs

• MIM: 162332
• HGNC: 11528
• e!Ensembl: ENSG00000169836

Protein

• UniProt ID: P29371
• Protein name: Neuromedin-K receptor (NKR) (NK-3 receptor) (NK-3R) (Neurokinin B receptor) (Tachykinin receptor 3)
• Protein function: This is a receptor for the tachykinin neuropeptide neuromedin-K (neurokinin B). It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinity of this receptor to tachykinins is:
• PDB: 8JBF, 8JBG, 8JBH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	102 → 356	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MATLPAAETWIDGGGGVGADAVNLTASLAAGAATGAVETGWLQLLDQAGNLSSSPSALGL
  PVASPAPSQPWANLTNQFVQPSWRIALWSLAYGVVVAVAVLGNLIVIWIILAHKRMRTVT
  NYFLVNLAFSDASMAAFNTLVNFIYALHSEWYFGANYCRFQNFFPITAVFASIYSMTAIA
  VDRYMAIIDPLKPRLSATATKIVIGSIWILAFLLAFPQCLYSKTKVMPGRTLCFVQWPEG
  PKQHFTYHIIVIILVYCFPLLIMGITYTIVGITLWGGEIPGDTCDKYHEQLKAKRKVVKM
  MIIVVMTFAICWLPYHIYFILTAIYQQLNRWKYIQQVYLASFWLAMSSTMYNPIIYCCLN
  KRFRAGFKRAFRWCPFIKVSSYDELELKTTRFHPNRQSSMYTVTRMESMTVVFDPNDADT
  TRSSRKKRATPRDPSFNGCSRRNSKSASATSSFISSPYTSVDEYS

• Sequence length: 465

Pathways

KEGG:

Calcium signaling pathway
Neuroactive ligand-receptor interaction

Reactome:

Tachykinin receptors bind tachykinins
G alpha (q) signalling events

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
Absence of pubertal development	Pathogenic	rs121918125	RCV006272081	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic	rs764659822	RCV003313942	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed puberty	Likely pathogenic	rs201195175	RCV000156946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Pathogenic	rs121918125, rs144292455	RCV006272081 RCV005646768	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 11 with or without anosmia	Likely pathogenic; Pathogenic	rs764659822, rs121918124, rs121918125, rs144292455, rs397515483, rs760022956	RCV000200961 RCV000030897 RCV000030898 RCV000056319 RCV000056320 RCV001009620	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic	rs727505375	RCV000156966	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TACR3-related disorder	Likely pathogenic; Pathogenic	rs2475987388, rs760022956, rs144292455	RCV003400336 RCV003405852 RCV004754291	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amenorrhea	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated GnRH Deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	33637690	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23697793		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23697793		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30341287		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30397201		★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	30390321	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	30390321		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	20194706		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	29705099		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	20194706, 31722250		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	21664240		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23697793		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	34865661	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19346957		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30485833		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30485833	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32811673	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	23656837		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	19079066, 29182666		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23329188	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	35231698	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	19079066, 26239645, 29182666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	CTD_human_DG	19079066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	19079066, 19755480, 22031817, 23329188, 23341491	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	19079066		★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	20395662, 21664240		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	19079066, 19755480, 26680571		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	19079066		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	UNIPROT_DG	19079066, 23643382, 25077900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	GENOMICS_ENGLAND_DG	19079066		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CLINVAR_DG	20332248, 21300340, 22031817, 22035731		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	31722250		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG	19079066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	19707180, 20395662, 23329188, 23341491		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	22035731, 22766261, 26239645	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility	Infertility	Pubtator	30390321	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	32811673	Associate	★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	19079066, 23643382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	21300340, 22031817, 22035731	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	23697793		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	35231698	Associate	★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	16269616		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29133316		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30906441		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	39884015	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	17968170		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	30587833		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	30382469		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30382469	Inhibit	★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	19079066		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35231698	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16154193		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18287949, 19879867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18287949, 19879867		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29061792		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27919954	Associate	★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	23955308		★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	23656837		★☆☆☆☆ Found in Text Mining only