HESX1 (HESX homeobox 1)

Gene

• Entrez ID: 8820
• Gene name: HESX homeobox 1
• Gene symbol: HESX1
• Synonyms (NCBI Gene): ANF, CPHD5, RPX
• Chromosome: 3
• Chromosome location: 3p14.3
• Summary: This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pitu

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs983243	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, upstream transcript variant, genic upstream transcript variant
rs28936416	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs28936702	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28936703	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs28936704	T>C	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104893742	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121909173	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs141063672	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs575112817	A>G,T	Pathogenic	Splice donor variant, intron variant
rs587776664	GT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs748460226	CT>-,CTCT	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs752434998	TG>-	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, frameshift variant
rs754137696	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs777223697	A>T	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs777833871	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1238248024	C>A,G	Likely-pathogenic	Splice acceptor variant, intron variant
rs1286347776	CA>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024293	hsa-miR-215-5p	Microarray	19074876
MIRT026712	hsa-miR-192-5p	Microarray	19074876

Transcription factors

Transcription factor	Regulation	Reference
OTX2	Unknown	18628516

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11748154
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	11748154
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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	IDA	26781211
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	11748154
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11748154
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IDA	26781211
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	9620767
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	23455924, 28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26781211
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	TAS	9620767
GO:0008406	Process	Gonad development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0021983	Process	Pituitary gland development	IBA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021983	Process	Pituitary gland development	IMP	26781211
GO:0030878	Process	Thyroid gland development	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030916	Process	Otic vesicle formation	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043584	Process	Nose development	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0048853	Process	Forebrain morphogenesis	IEA
GO:0048861	Process	Leukemia inhibitory factor signaling pathway	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0070371	Process	ERK1 and ERK2 cascade	IEA
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 601802
• HGNC: 4877
• e!Ensembl: ENSG00000163666

Protein

• UniProt ID: Q9UBX0
• Protein name: Homeobox expressed in ES cells 1 (Homeobox protein ANF) (hAnf)
• Protein function: Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTG
• PDB: 2K40
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	109 → 165	Homeodomain	Domain

• Sequence:

  MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCL
  HVPNPPSGISFPSVVDHPMPEERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQI
  EVLENVFRVNCYPGIDIREDLAQKLNLEEDRIQIWFQNRRAKLKRSHRESQFLMAKKNFN
  TNLLE

• Sequence length: 185

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

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
GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES	Pathogenic; Likely pathogenic	rs2107565760, rs2060466023, rs748460226, rs2060462273, rs745873579, rs28936702, rs104893742, rs1238248024	RCV001973376 RCV001906782 RCV003073231 RCV002953019 RCV003021421 RCV005222672 RCV000008138 RCV000646790	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pituitary hormone deficiency, combined, 1	Likely pathogenic; Pathogenic	rs777223697, rs777833871	RCV000582144 RCV000583488	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PITUITARY HORMONE DEFICIENCY, COMBINED, 5	Pathogenic	rs28936416, rs587776664, rs575112817	RCV000008134 RCV000008136 RCV000008137	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Septo-optic dysplasia sequence	Pathogenic; Likely pathogenic	rs2107565760, rs2060466023, rs748460226, rs2060462273, rs745873579, rs28936702, rs2471733263, rs745685399, rs777223697, rs777833871, rs1238248024	RCV001973376 RCV001906782 RCV003073231 RCV002953019 RCV003021421 RCV000008130 RCV000008133 RCV000008135 RCV003153172 RCV000581553 RCV000582234 RCV000646790	★★★★★ 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	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Combined pituitary hormone deficiencies, genetic form	Conflicting classifications of pathogenicity	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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, Dominant/Recessive	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HESX1-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HESX1-Related Disorders	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ 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
KALLMANN SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with spermatogenesis disorder	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY STALK INTERRUPTION SYNDROME	—	Disgenet 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	—	GenCC, HPO GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOOPTIC DYSPLASIA, MILD	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	12519827, 12914740, 17201807		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	38527854	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	28816533		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	12914740		★☆☆☆☆ 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	14561704, 26781211, 27000987, 28332357, 32796691, 33451138	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	26781211, 27000987, 33451138	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	19844116		★☆☆☆☆ 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
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Hormone Deficiency With Pituitary Anomalies	Growth Hormone Deficiency With Pituitary Anomalies	CLINVAR_DG	11748154, 19093031, 9620767		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	19158604		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	27000987	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	9397252		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	10599689, 14557462, 14561704, 17148560, 17201807, 18728160, 18852528, 19844116, 27000987		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	14561704, 27000987, 34124982	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	LHGDN	17148560		★☆☆☆☆ Found in Text Mining only
Hypopituitarism and septooptic `dysplasia`	Hypopituitarism And Septooptic Dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	BEFREE	12519827		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	GENOMICS_ENGLAND_DG	26416826		★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	26781211	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
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	23465708		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	36700485	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	21325470, 25557026, 26781211, 27000987, 27974184		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	17587179, 19623216, 21396578, 23465708, 24802313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	BEFREE	23465708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	23465708	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy body disease	Pubtator	38527854	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28816533		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12536356		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	27343026	Associate	★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	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	Pubtator	33451138	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	12519827, 14561704, 15670191, 17315526, 18157385, 18174732, 18728160, 22145475, 22797803, 25500790, 25557026, 26111865, 26781211, 27000987, 27114065, 27756091, 28332357, 28734020, 30888394, 31022718		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
PEHO syndrome	PEHO Syndrome	BEFREE	27343026		★☆☆☆☆ Found in Text Mining only
PEHO syndrome	Peho syndrome	Pubtator	27343026	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	12372734		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	12372734	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	27917547		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	12519827, 16424673, 17201807, 20694410, 21325470, 25557026, 26781211, 27000987, 27974184		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Hormone Deficiency, Combined, 1	Pituitary Hormone Deficiency	ORPHANET_DG	14561704		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary Hormone Deficiency, Combined, 1	Pituitary Hormone Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	ORPHANET_DG	21270112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	23199197, 27917547		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ 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
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	8356406		★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	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	10532715, 10599689, 10852367, 11748154, 11891837, 12203971, 12372734, 14557462, 15670191, 17148560, 17315526, 17587179, 18852528, 19844116, 20694410, 21396578, 26111865, 26781211, 27000987, 9620767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	UNIPROT_DG	11136712, 14561704, 17148560, 26781211, 9620767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	CLINVAR_DG	11748154, 19093031, 9620767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	LHGDN	12424431, 14646405, 14714741, 17587179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	ORPHANET_DG	17587179, 19623216, 21396578, 24802313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	GENOMICS_ENGLAND_DG	23465708, 26416826, 26781211		★★☆☆☆ 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	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	21325470		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	11220702		★☆☆☆☆ Found in Text Mining only
X-linked retinitis pigmentosa	Retinitis Pigmentosa, X-Linked	BEFREE	2995237		★☆☆☆☆ Found in Text Mining only