POU1F1 (POU class 1 homeobox 1)

Gene

• Entrez ID: 5449
• Gene name: POU class 1 homeobox 1
• Gene symbol: POU1F1
• Synonyms (NCBI Gene): CPHD1, GHF-1, PIT1, POU1F1a, Pit-1
• Chromosome: 3
• Chromosome location: 3p11.2
• Summary: This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4988460	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs104893754	G>A	Pathogenic	Stop gained, coding sequence variant
rs104893755	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs104893756	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104893757	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893758	A>G	Pathogenic	Missense variant, coding sequence variant
rs104893759	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893760	C>A	Pathogenic	Stop gained, coding sequence variant
rs104893761	A>C	Pathogenic	Missense variant, coding sequence variant
rs104893762	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893763	T>A	Pathogenic	Stop gained, coding sequence variant
rs104893764	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893765	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893766	G>C	Pathogenic	Missense variant, coding sequence variant
rs143373007	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201406891	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs515726221	C>A	Pathogenic	Splice donor variant
rs587776798	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776799	->T	Pathogenic	Coding sequence variant, frameshift variant
rs754584667	G>A,C,T	Likely-pathogenic	Intron variant
rs772390221	CTTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796954	A>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1559614730	T>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1250511	hsa-miR-4652-3p	CLIP-seq
MIRT1250512	hsa-miR-653	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HMGA1	Activation	22199144
HMGA2	Activation	22199144
LHX2	Activation	22535646
LHX4	Activation	15998782
OTX2	Unknown	18628516
POU1F1	Activation	22199144

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	9685346, 26612202
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9482665, 11301317
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	1487156
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	26612202
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	11301317
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9392392
GO:0021984	Process	Adenohypophysis development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9482665, 9685346, 26612202
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9685346, 12612071, 26612202
GO:0106222	Function	LncRNA binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 173110
• HGNC: 9210
• e!Ensembl: ENSG00000064835

Protein

• UniProt ID: P28069
• Protein name: Pituitary-specific positive transcription factor 1 (PIT-1) (Growth hormone factor 1) (GHF-1)
• Protein function: Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin g
• PDB: 5WC9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00157	Pou	127 → 198	Pou domain - N-terminal to homeobox domain	Domain
  PF00046	Homeodomain	215 → 271	Homeodomain	Domain

• Sequence:

  MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNVMSTATGLHYSVPSCHY
  GNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIHQPLLAEDPTAADFKQELRRKSKLVEE
  PIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVGEALAAVHGSEFSQTTICRFENLQLSF
  KNACKLKAILSKWLEEAEQVGALYNEKVGANERKRKRRTTISIAAKDALERHFGEQNKPS
  SQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKTSLNQSLFSISKEHLECR

• Sequence length: 291

Pathways

KEGG:

Growth hormone synthesis, secretion and action

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
Combined pituitary hormone deficiencies, genetic form	Pathogenic; Likely pathogenic	rs142046308, rs104893756, rs104893759, rs104893764, rs104893765, rs780359925	RCV003479489 RCV006268078 RCV005237378 RCV005430930 RCV003323359 RCV004701731	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary hormone deficiency, combined, 1	Likely pathogenic; Pathogenic	rs2106927025, rs2106940848, rs2106940833, rs2106940851, rs2106940845, rs515726221, rs606231411, rs142046308, rs772390221, rs754584667, rs104893754, rs104893756, rs104893757, rs104893759, rs104893760, rs104893761, rs104893762, rs587776798, rs104893758, rs104893763, rs104893764, rs104893765, rs587776799, rs104893766, rs1559614730	RCV001813827 RCV001706739 RCV001706740 RCV001706742 RCV001706743 RCV000114426 RCV000148937 RCV005636784 RCV000240664 RCV000240671 RCV000014572 RCV000014574 RCV000014575 RCV000014576 RCV000014577 RCV000014578 RCV000014579 RCV000014580 RCV000014581 RCV000014582 RCV000014583 RCV000014584 RCV000014585 RCV000014586 RCV002051881	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POU1F1-related disorder	Likely pathogenic; Pathogenic	rs104893764, rs104893765	RCV004754260 RCV004730846	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCY GENETIC FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Pituitary Hormone Deficiency, Recessive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DWARFISM, PITUITARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM DUE TO MUTATION IN TRANSCRIPTION FACTOR OF PITUITARY DEVELOPMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ 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 HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	16618986		★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	16618986	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	26743473, 28865461, 35370935, 40421250	Associate	★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	28865461, 29305680, 30975543		★☆☆☆☆ Found in Text Mining only
ACTH Deficiency, Isolated	ACTH Deficiency	BEFREE	31513261		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10404841, 10728913, 11796836, 14759067, 18228160, 22199144, 23778486, 28994039, 30627156, 31167164, 7962335, 8027225, 8077322, 8148036, 8297469, 8733768, 8834538, 8890999, 8949563, 9167960, 9666878, 9691207		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12165656		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	12914740, 15928241		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	21761366		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	26743473	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	25368255		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23376999		★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	23308213		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	16618986	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24748456, 28216655, 31513261		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	11927395, 17456792, 25527274		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15607537, 16061841, 21060149, 25527274, 25992773, 27798557, 29321662, 31292963		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25992773, 27798557	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	18179800, 27001263, 27165707, 38257184	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate arthropathy	Calcium pyrophosphate deposition	BEFREE	19369455		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23778486	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16061841		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	21316014	Associate	★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	BEFREE	12914740, 18174732, 9632165		★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	25500790		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	30460459		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	23968976		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27226307		★☆☆☆☆ Found in Text Mining only
Combined pituitary hormone deficiencies, genetic forms	Pituitary Hormone Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	12153609, 17162714, 23397938, 27885216, 28356564, 34270938, 35456463, 35951005, 40141050, 7670563	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	21123951	Associate	★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	11847467, 7593413		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	16060904		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	21761366		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	21761366	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	23690474	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	22393163		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29216956		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	25368255		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	19808898		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	1338721, 16556738, 19609847, 9073460, 9462743		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	21123951, 21316014, 40141050, 7670563	Associate	★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic anterior pituitary gland	Ectopic anterior pituitary gland	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	36631635	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36373483	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa with pyloric atresia	Epidermolysis bullosa	Pubtator	36631635	Associate	★☆☆☆☆ Found in Text Mining only
Follicle stimulating hormone deficiency	Follicle Stimulating Hormone Deficiency	BEFREE	18174732		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	GWASCAT_DG	25158072		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	17167399	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25368255		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25368255		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	9920061		★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	28994039, 8784102, 8890999		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	23397938	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30651873		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	26757742	Associate	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	Pubtator	26743473	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	9920061		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	12717343, 1509263, 16556738, 21316014		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	21316014, 35456463, 35951005	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the pituitary gland	Hypoplasia Of The Pituitary Gland	BEFREE	9392392		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	LHGDN	11847467		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	12914740, 16505001, 18174732, 21316014, 7593413, 9588494, 9632165		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	21123951, 21316014, 26757742, 28216655, 33168897, 35456463	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism due to deficient transcription factors involved in pituitary development or function	Hypothyroidism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	16505001		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated growth hormone deficiency type II	Isolated Growth Hormone Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type II	Isolated Growth Hormone Deficiency	ORPHANET_DG	26612202		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	23380306, 25557026, 26612202, 31022740		★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	23397938	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	23332017	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23332017		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27798557	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	23376999		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15607537, 21060149, 25527274, 25992773, 27798557, 29321662, 31292963		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25368255		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25527274, 25992773, 29321662		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	16505001		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	24201868		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10728913, 11081157, 14759067, 19808898, 21060149, 25992773, 27226307, 27798557, 28865461, 29305680, 29321662, 30610567, 31292963, 31513261, 8027225, 8077322, 8784102, 8869065, 8949563, 9167960		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	GWASCAT_DG	25158072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oral cleft	Oral cleft	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	22393163	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30042500		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	10077004, 10698595, 10792348, 10946868, 11847467, 12519826, 12717343, 12780757, 12812307, 12904605, 12932747, 15192287, 15279086, 15539793, 15670191, 15928241, 16263824, 16901973, 16968807, 17162714, 18059085, 18157385, 18174732, 21521297, 22010633, 25557026, 25822178, 25962206, 27114065, 27756091, 27885216, 28356564, 30460459, 8805025, 9439906, 9485179, 9554467, 9588494, 9632165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism	Panhypopituitarism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pericardial Effusion	Pericardial effusion	Pubtator	21316014	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	14759067, 17761887, 28994039		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	16061841, 25137025, 2574416, 27917547, 7951487, 8645191, 9799079, 9828108		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	15928241, 25557026, 26612202, 9392392, 9588494		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary dwarfism	Pituitary dwarfism	CTD_human_DG	9392392		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary dwarfism	Pituitary dwarfism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Hormone Deficiency Combined 1	Pituitary hormone deficiency	Pubtator	40141050	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Hormone Deficiency, Combined, 1	Pituitary Hormone Deficiency	UNIPROT_DG	11297581, 1472057, 1509262, 1509263, 15928241, 16968807, 22010633, 26612202, 7852536, 8768831, 9485179, 9626142		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Hormone Deficiency, Combined, 1	Pituitary Hormone Deficiency	ORPHANET_DG	15670191		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Hormone Deficiency, Combined, 1	Pituitary Hormone Deficiency	GENOMICS_ENGLAND_DG	16060904, 8768831		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Hormone Deficiency, Combined, 1	Pituitary Hormone Deficiency	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Hormone Deficiency, Combined, 1	Pituitary Hormone Deficiency	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	10890192, 23778486, 28865461, 33261069, 35370935, 35456463, 36631635	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	BEFREE	8473291		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	25962206		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	30460459		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	10404841, 16879162, 8733768, 8784102		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	8606626		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	40141050	Associate	★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	BEFREE	12773133, 12914740, 16879162, 18174732, 28245453, 9632165		★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	15670191		★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	25527274		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	23380306, 31022740		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37334727	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	28216655, 31513261		★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	18729813		★☆☆☆☆ Found in Text Mining only