SOX3 (SRY-box transcription factor 3)

Gene

• Entrez ID: 6658
• Gene name: SRY-box transcription factor 3
• Gene symbol: SOX3
• Synonyms (NCBI Gene): GHDX, MRGH, PHP, PHPX, SOXB
• Chromosome: X
• Chromosome location: Xq27.1
• Summary: This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after for

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200361128	C>G	Benign, likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs1556518231	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030124	hsa-miR-26b-5p	Microarray	19088304
MIRT449676	hsa-miR-548as-3p	PAR-CLIP	22100165
MIRT449674	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT449675	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT449673	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT733358	hsa-miR-483-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32210581
MIRT449676	hsa-miR-548as-3p	PAR-CLIP	22100165
MIRT449674	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT449675	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT449673	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT1380444	hsa-miR-1275	CLIP-seq
MIRT1380445	hsa-miR-132	CLIP-seq
MIRT1380446	hsa-miR-1915	CLIP-seq
MIRT1380447	hsa-miR-212	CLIP-seq
MIRT1380448	hsa-miR-3163	CLIP-seq
MIRT1380449	hsa-miR-3180	CLIP-seq
MIRT1380450	hsa-miR-3180-3p	CLIP-seq
MIRT1380451	hsa-miR-3186-5p	CLIP-seq
MIRT1380452	hsa-miR-3196	CLIP-seq
MIRT1380453	hsa-miR-340	CLIP-seq
MIRT1380454	hsa-miR-342-5p	CLIP-seq
MIRT1380455	hsa-miR-4282	CLIP-seq
MIRT1380456	hsa-miR-4447	CLIP-seq
MIRT1380457	hsa-miR-4466	CLIP-seq
MIRT1380458	hsa-miR-4472	CLIP-seq
MIRT1380459	hsa-miR-4481	CLIP-seq
MIRT1380460	hsa-miR-4645-5p	CLIP-seq
MIRT1380461	hsa-miR-4664-5p	CLIP-seq
MIRT1380462	hsa-miR-4665-5p	CLIP-seq
MIRT1380463	hsa-miR-4673	CLIP-seq
MIRT1380464	hsa-miR-4695-3p	CLIP-seq
MIRT1380465	hsa-miR-4706	CLIP-seq
MIRT1380466	hsa-miR-4709-5p	CLIP-seq
MIRT1380467	hsa-miR-4726-3p	CLIP-seq
MIRT1380468	hsa-miR-4742-5p	CLIP-seq
MIRT1380469	hsa-miR-4745-5p	CLIP-seq
MIRT1380470	hsa-miR-4749-5p	CLIP-seq
MIRT1380471	hsa-miR-624	CLIP-seq
MIRT1380472	hsa-miR-675	CLIP-seq
MIRT1380473	hsa-miR-744	CLIP-seq
MIRT2113906	hsa-miR-1323	CLIP-seq
MIRT2113907	hsa-miR-3120-3p	CLIP-seq
MIRT1380449	hsa-miR-3180	CLIP-seq
MIRT1380450	hsa-miR-3180-3p	CLIP-seq
MIRT1380452	hsa-miR-3196	CLIP-seq
MIRT1380454	hsa-miR-342-5p	CLIP-seq
MIRT1380456	hsa-miR-4447	CLIP-seq
MIRT1380457	hsa-miR-4466	CLIP-seq
MIRT1380458	hsa-miR-4472	CLIP-seq
MIRT1380459	hsa-miR-4481	CLIP-seq
MIRT2113908	hsa-miR-4651	CLIP-seq
MIRT1380461	hsa-miR-4664-5p	CLIP-seq
MIRT1380465	hsa-miR-4706	CLIP-seq
MIRT1380469	hsa-miR-4745-5p	CLIP-seq
MIRT1380470	hsa-miR-4749-5p	CLIP-seq
MIRT2113909	hsa-miR-545	CLIP-seq
MIRT2113910	hsa-miR-548o	CLIP-seq
MIRT2113911	hsa-miR-548p	CLIP-seq
MIRT2113912	hsa-miR-548v	CLIP-seq
MIRT2113913	hsa-miR-608	CLIP-seq
MIRT1380472	hsa-miR-675	CLIP-seq
MIRT1380473	hsa-miR-744	CLIP-seq
MIRT2113906	hsa-miR-1323	CLIP-seq
MIRT2113907	hsa-miR-3120-3p	CLIP-seq
MIRT2113909	hsa-miR-545	CLIP-seq
MIRT2113910	hsa-miR-548o	CLIP-seq
MIRT2113911	hsa-miR-548p	CLIP-seq
MIRT2113912	hsa-miR-548v	CLIP-seq
MIRT2460286	hsa-miR-3664-3p	CLIP-seq
MIRT2460287	hsa-miR-4433	CLIP-seq
MIRT1380456	hsa-miR-4447	CLIP-seq
MIRT2460288	hsa-miR-4459	CLIP-seq
MIRT1380458	hsa-miR-4472	CLIP-seq
MIRT1380459	hsa-miR-4481	CLIP-seq
MIRT2460289	hsa-miR-4488	CLIP-seq
MIRT2460290	hsa-miR-4675	CLIP-seq
MIRT2460291	hsa-miR-4687-3p	CLIP-seq
MIRT2460292	hsa-miR-4697-5p	CLIP-seq
MIRT2460293	hsa-miR-4741	CLIP-seq
MIRT1380469	hsa-miR-4745-5p	CLIP-seq
MIRT2460294	hsa-miR-4768-3p	CLIP-seq
MIRT2460295	hsa-miR-510	CLIP-seq
MIRT2460296	hsa-miR-765	CLIP-seq
MIRT1380446	hsa-miR-1915	CLIP-seq
MIRT1380460	hsa-miR-4645-5p	CLIP-seq
MIRT1380463	hsa-miR-4673	CLIP-seq
MIRT1380467	hsa-miR-4726-3p	CLIP-seq
MIRT1380468	hsa-miR-4742-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MEIS1	Unknown	19799567
NFYA	Unknown	15656994;19799567
NFYB	Unknown	19799567
NFYC	Unknown	19799567
PBX1	Unknown	19799567
SP1	Unknown	15656994
TGIF1	Repression	22293114

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
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	ISS
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	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8625802
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007417	Process	Central nervous system development	TAS	8625802
GO:0007420	Process	Brain development	IBA
GO:0007423	Process	Sensory organ development	ISS
GO:0007530	Process	Sex determination	IMP	21183788
GO:0021854	Process	Hypothalamus development	ISS
GO:0021983	Process	Pituitary gland development	ISS
GO:0030182	Process	Neuron differentiation	IBA
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0060324	Process	Face development	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 313430
• HGNC: 11199
• e!Ensembl: ENSG00000134595

Protein

• UniProt ID: P41225
• Protein name: Transcription factor SOX-3
• Protein function: Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuron
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	139 → 207	HMG (high mobility group) box	Domain
  PF12336	SOXp	208 → 302	SOX transcription factor	Family

• Sequence:

  MRPVRENSSGARSPRVPADLARSILISLPFPPDSLAHRPPSSAPTESQGLFTVAAPAPGA
  PSPPATLAHLLPAPAMYSLLETELKNPVGTPTQAAGTGGPAAPGGAGKSSANAAGGANSG
  GGSSGGASGGGGGTDQDRVKRPMNAFMVWSRGQRRKMALENPKMHNSEISKRLGADWKLL
  TDAEKRPFIDEAKRLRAVHMKEYPDYKYRPRRKTKTLLKKDKYSLPSGLLPPGAAAAAAA
  AAAAAAAASSPVGVGQRLDTYTHVNGWANGAYSLVQEQLGYAQPPSMSSPPPPPALPPMH
  RYDMAGLQYSPMMPPGAQSYMNVAAAAAAASGYGGMAPSATAAAAAAYGQQPATAAAAAA
  AAAAMSLGPMGSVVKSEPSSPPPAIASHSQRACLGDLRDMISMYLPPGGDAADAASPLPG
  GRLHGVHQHYQGAGTAVNGTVPLTHI

• Sequence length: 446

Pathways

Reactome:

Deactivation of the beta-catenin transactivating complex

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
Intellectual disability, X-linked, with panhypopituitarism	Likely pathogenic	rs1556518231	RCV000512488	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Panhypopituitarism, X-linked	Pathogenic	rs776775669	RCV000010545	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked intellectual disability with isolated growth hormone deficiency	Pathogenic	rs2520866066	RCV000010543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XX OVOTESTICULAR DISORDER OF SEX DEVELOPMENT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XX SEX REVERSAL 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XX SEX REVERSAL 3	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormal brain morphology	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Abnormal sperm morphology	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTRICHOSIS, CONGENITAL GENERALIZED, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligospermia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM - X-LINKED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM X-LINKED	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Uncertain significance	ClinVar	★★☆☆☆ 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	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOX3-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED CONGENITAL GENERALIZED HYPERTRICHOSIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	ORPHANET_DG	21183788, 22678921		★☆☆☆☆ Found in Text Mining only
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	BEFREE	24149105		★☆☆☆☆ Found in Text Mining only
46,XX SEX REVERSAL 3	46, XY Sex Reversal	GENOMICS_ENGLAND_DG	8826446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
46,XX SEX REVERSAL 4	46, XX Gonadal Sex Reversal	BEFREE	11153920		★☆☆☆☆ Found in Text Mining only
46,XX testicular disorder of sex development	46, XX Gonadal Sex Reversal	Orphanet			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	16114045, 18174732		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30537354		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	20837711		★☆☆☆☆ Found in Text Mining only
Bilateral Periventricular Nodular Heterotopia	Periventricular heterotopia	BEFREE	15338277		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	24945424		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29312567, 30915751		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20847343, 30915751	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Head	Neoplasm of head	BEFREE	31573097		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27251670	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27251670		★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	25064402	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of parathyroid gland	Parathyroid agenesis	BEFREE	16167084		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	16995592, 21274302		★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	35295983	Associate	★☆☆☆☆ 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
Disorders of Sex Development	Disorders of sex development	Pubtator	25351776	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	11450852, 16097007, 25402377		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	12428212, 15800844, 34440302, 35295983	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	35114986	Stimulate	★☆☆☆☆ Found in Text Mining only
Dyslalia	Dyslalia	BEFREE	16097007		★☆☆☆☆ 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
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	28618953		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28618953	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27251670		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29939324, 30209685		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34953010	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29939324, 30209685		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	23463539, 25140394		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	11153920		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35114986	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	27477789, 30264515	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia	BEFREE	8111369		★☆☆☆☆ Found in Text Mining only
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	ORPHANET_DG	21636067		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	25064402, 35295983	Associate	★☆☆☆☆ 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
Hypoparathyroidism	Hypoparathyroidism	BEFREE	11450852, 16167084, 29240265		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	15338277, 15342697, 15800844, 16097007, 17127446, 18174732, 21289259, 22466334, 23463539, 24346842, 24737742, 25140394, 25402377, 30125608, 31678974		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	LHGDN	15800844, 17127446		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	15800844, 34440302, 35114986, 35295983	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12428212, 15800844, 17627381, 21289259, 23463539, 24346842, 25140394, 25402377, 27477789, 31678974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	25351776, 27477789, 35114986, 35295983	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	BEFREE	17994562		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	12428212, 15800844, 24346842, 25402377, 25557026, 27974184, 29175558		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	24346842		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	17587179, 21396578, 24802313		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	15800844, 35295983	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32363730	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29312567, 30915751		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28618953		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27251670		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	31299102		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12428212, 15800844, 17627381, 21289259, 24346842, 25140394		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	12428212, 29175558, 8111369		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	12428212, 14714741		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency	Mental retardation	ORPHANET_DG	12428212, 22139958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, With Panhypopituitarism	Mental retardation	GENOMICS_ENGLAND_DG	15800844, 6167084, 8826446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, With Panhypopituitarism	Mental retardation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation, X-Linked, With Panhypopituitarism	Mental retardation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	BEFREE	12428212		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	20837711		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23238694, 29939324, 31650973		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	24737742, 31299102, 31678974		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21784346, 28882452		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30537354		★☆☆☆☆ Found in Text Mining only
Non-acquired panhypopituitarism	Non-Acquired Panhypopituitarism	Orphanet			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24945424		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ 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	28335789, 29484385		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27251670		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27251670	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	15800844, 24346842, 25064402, 25140394, 25557026, 27974184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism	Panhypopituitarism	ORPHANET_DG	15800844		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism	Panhypopituitarism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism - X-linked	Panhypopituitarism, X-linked	GENOMICS_ENGLAND_DG	15800844, 6167084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism - X-linked	Panhypopituitarism, X-linked	BEFREE	29175558		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism - X-linked	Panhypopituitarism, X-linked	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Diseases	Pituitary Diseases	BEFREE	28515211		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	24346842, 25140394, 25557026, 27974184, 29175558		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Hormone Deficiency Combined 2	Pituitary hormone deficiency	Pubtator	15800844	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	23199197, 25322266		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	BEFREE	10852457, 11443172, 11450852, 16995592, 2121768, 24945424, 657576		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism Type 1B	Pseudohypoparathyroidism	BEFREE	12858292		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism	BEFREE	11450852, 15070926, 18250541, 20965295, 21488135, 24423294, 29693731		★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOPARATHYROIDISM, TYPE IB	Pseudohypoparathyroidism	BEFREE	11033761		★☆☆☆☆ Found in Text Mining only
Pseudopseudohypoparathyroidism	Pseudopseudohypoparathyroidism	BEFREE	11443172, 2121768		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	10745042		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	10745042	Associate	★☆☆☆☆ 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	17587179, 18259104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	LHGDN	17587179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septo-Optic Dysplasia	Septo-Optic Dysplasia	ORPHANET_DG	17587179, 21396578, 24802313		★★☆☆☆ 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
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	25351776		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10760287		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10760287, 15880380	Associate	★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	12428212, 15800844, 24346842, 25140394, 25402377		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	16097007		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	BEFREE	24737742		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23238694, 28670361		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32363730	Associate	★☆☆☆☆ 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
Thrombosis	Thrombosis	Pubtator	32423094	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	35114986	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	657576		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	30581889		★☆☆☆☆ Found in Text Mining only
X-linked congenital generalized hypertrichosis	Congenital Hypertrichosis, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked intellectual disability with isolated growth hormone deficiency	Intellectual Disability With Growth Hormone Deficiency, X-Linked	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
XX males	XX Males	BEFREE	21183788, 22678921, 25781358		★☆☆☆☆ Found in Text Mining only
XX males	XX Males	ORPHANET_DG	21183788, 22678921		★☆☆☆☆ Found in Text Mining only