PROKR2 (prokineticin receptor 2)

Gene

• Entrez ID: 128674
• Gene name: Prokineticin receptor 2
• Gene symbol: PROKR2
• Synonyms (NCBI Gene): GPR73L1, GPR73b, GPRg2, HH3, KAL3, PKR2, dJ680N4.3
• Chromosome: 20
• Chromosome location: 20p12.3
• Summary: Prokineticins are secreted proteins that can promote angiogenesis and induce strong gastrointestinal smooth muscle contraction. The protein encoded by this gene is an integral membrane protein and G protein-coupled receptor for prokineticins. The encoded

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315416	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs74315417	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs74315418	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs74315419	C>T	Pathogenic	Coding sequence variant, missense variant
rs138672528	C>T	Pathogenic	Coding sequence variant, missense variant
rs141090506	G>A,C	Likely-pathogenic, likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201835496	C>G	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs376142095	C>T	Pathogenic	Coding sequence variant, missense variant
rs376239580	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587777834	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs886037916	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886041307	C>T	Pathogenic	Splice donor variant
rs1600577387	C>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019359	hsa-miR-148b-3p	Microarray	17612493

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004983	Function	Neuropeptide Y receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18826963
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007218	Process	Neuropeptide signaling pathway	IEA
GO:0007623	Process	Circadian rhythm	IBA
GO:0007623	Process	Circadian rhythm	IEA
GO:0016020	Component	Membrane	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IBA

Other IDs

• MIM: 607123
• HGNC: 15836
• e!Ensembl: ENSG00000101292

Protein

• UniProt ID: Q8NFJ6
• Protein name: Prokineticin receptor 2 (PK-R2) (G-protein coupled receptor 73-like 1) (G-protein coupled receptor I5E) (GPR73b) (GPRg2)
• Protein function: Receptor for prokineticin 2. Exclusively coupled to the G(q) subclass of heteromeric G proteins. Activation leads to mobilization of calcium, stimulation of phosphoinositide turnover and activation of p44/p42 mitogen-activated protein kinase.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	70 → 333	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the ileocecum, thyroid gland, pituitary gland, salivary gland, adrenal gland, testis, ovary and brain.
• Sequence:

  MAAQNGNTSFTPNFNPPQDHASSLSFNFSYGDYDLPMDEDEDMTKTRTFFAAKIVIGIAL
  AGIMLVCGIGNFVFIAALTRYKKLRNLTNLLIANLAISDFLVAIICCPFEMDYYVVRQLS
  WEHGHVLCASVNYLRTVSLYVSTNALLAIAIDRYLAIVHPLKPRMNYQTASFLIALVWMV
  SILIAIPSAYFATETVLFIVKSQEKIFCGQIWPVDQQLYYKSYFLFIFGVEFVGPVVTMT
  LCYARISRELWFKAVPGFQTEQIRKRLRCRRKTVLVLMCILTAYVLCWAPFYGFTIVRDF
  FPTVFVKEKHYLTAFYVVECIAMSNSMINTVCFVTVKNNTMKYFKKMMLLHWRPSQRGSK
  SSADLDLRTNGVPTTEEVDCIRLK

• Sequence length: 384

Pathways

Reactome:

Peptide ligand-binding receptors
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
Hypogonadotropic hypogonadism 2 with or without anosmia	Likely pathogenic; Pathogenic	rs587777834	RCV002288460	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 3 with or without anosmia	Likely pathogenic; Pathogenic	rs751875578, rs538606142, rs587777834, rs74315419, rs201898089, rs886037916, rs1979019949	RCV001542622 RCV001782683 RCV000022409 RCV000022410 RCV003133703 RCV000256868 RCV003328074	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PROKR2-related disorder	Likely pathogenic; Pathogenic	rs587777834	RCV004752681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Amenorrhea	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism with anosmia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism 7 with or without anosmia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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
Infertility disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Male infertility with spermatogenesis disorder	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ 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
PITUITARY STALK INTERRUPTION SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTO-OPTIC DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTO-OPTIC DYSPLASIA SPECTRUM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOOPTIC DYSPLASIA	—	CTD	★★☆☆☆ 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
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	26475302		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	21247312	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	19544013, 20576534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19544013, 20576534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bloch Sulzberger syndrome	Incontinentia pigmenti syndrome	BEFREE	24276467		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	29226856		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19577713		★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	28338294		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	26207952, 37605180	Associate	★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	24204987	Associate	★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	31636607		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23135359		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29226856		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26372733, 29226856	Associate	★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	37338295	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	36849876	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anosmia	Congenital anosmia	Pubtator	29255181	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ 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 hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	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	20389090		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26047640		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	26047640	Stimulate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36849876	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	39285472	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	37338295	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	37338295	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	19135668	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35669683, 37338295, 37605180	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	21858136		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	21858136	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	LHGDN	18559922		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	22466334		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	23341491, 24276467, 28209183, 30098700, 33413516, 34348883, 35669683, 36694982, 38272512	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	20188792		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	18682503, 19719764, 20389090, 20502053, 22745195, 24276467, 24487590		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism with or without Anosmia	GENOMICS_ENGLAND_DG	17054399, 25678757		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism with or without Anosmia	CLINVAR_DG	17054399, 18826963		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism with or without Anosmia	UNIPROT_DG	17054399, 18559922, 18826963, 22927827, 23643382, 25077900		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	22466334, 23386640, 28586151		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	Pubtator	28209183	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22941044	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	18559922, 23969157, 24002956, 24753254, 25226293, 30576231		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	20591981, 21247312, 21454486, 24002956, 24276467, 25226293, 33208564, 35090434	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	21454486	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	28586151		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	16537498, 17191030, 17624596, 18034870, 18285834, 18559922, 18682503, 18826963, 20022991, 20389090, 20502053, 20530987, 20536592, 23082007, 23200691, 23386640, 23533228, 23969157, 24031091, 24487590, 24753254, 24830383, 28616754, 28858133, 29255181, 29537336, 31132148		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	GENOMICS_ENGLAND_DG	17054399		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	17054399, 18723471, 18985070, 21454486, 21682876, 22031817, 22035731, 22399515, 23200691, 23533228, 28858133, 29255181, 33120852, 35090434, 35669683, 38272512	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	LHGDN	18559922, 18682503, 18723471, 18826963		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	18682503, 22319038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kallmann syndrome, type 3, recessive	Kallmann Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26372733	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19544013, 20576534		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	18559922, 31132148		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28121357		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16763065		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23135359		★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	20389090		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	25064403		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	19544013, 20451257, 20576534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	19544013, 20451257, 20576534		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	28121357		★☆☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28121357		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	22319038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26440368, 29422542, 30632945		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	20389090		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	29226856	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	25322266, 28453858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	ORPHANET_DG	28453850		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precocious Puberty	Precocious puberty	BEFREE	28338294		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
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
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	22319038, 23386640		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	ORPHANET_DG	22319038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-optic dysplasia spectrum	Septo-Optic Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	20389090		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	28586151		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Selective Pituitary	Thyroid hormone resistance	Pubtator	23341491	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	19707180		★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	19544013, 20576534		★☆☆☆☆ Found in Text Mining only
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	33120852	Associate	★☆☆☆☆ Found in Text Mining only
Ureteral Obstruction	Urethral obstruction	Pubtator	33120852	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Diseases	Urinary bladder diseases	Pubtator	33120852	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	19135668	Associate	★☆☆☆☆ Found in Text Mining only