NR0B1 (nuclear receptor subfamily 0 group B member 1)

Gene

• Entrez ID: 190
• Gene name: Nuclear receptor subfamily 0 group B member 1
• Gene symbol: NR0B1
• Synonyms (NCBI Gene): AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2
• Chromosome: X
• Chromosome location: Xp21.2
• Summary: This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antago

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935481	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs28935482	C>G	Pathogenic	Coding sequence variant, missense variant
rs104894886	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894887	A>T	Pathogenic	Coding sequence variant, stop gained
rs104894888	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs104894889	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894890	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894891	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104894892	G>T	Pathogenic	Coding sequence variant, stop gained
rs104894894	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894895	G>C	Pathogenic	Coding sequence variant, stop gained
rs104894896	C>A	Pathogenic	Coding sequence variant, missense variant
rs104894897	A>C	Pathogenic	Coding sequence variant, missense variant
rs104894898	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs104894899	A>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs104894900	A>C	Pathogenic	Coding sequence variant, missense variant
rs104894906	G>T	Pathogenic	Coding sequence variant, stop gained
rs104894907	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894908	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs132630327	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs193205940	C>T	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs386134262	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386134263	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs387907373	C>A	Pathogenic	Missense variant, coding sequence variant
rs753734546	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs767828388	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs886041215	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517778	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499835	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793475	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1085307677	ACAGGAGTGCCACGGGCCGCCCACCCGGAAGCCCCGCTCTG>GTAAGTGGCTTTC,TTCT	Pathogenic	Frameshift variant, coding sequence variant
rs1131691564	C>T	Pathogenic	Coding sequence variant, stop gained
rs1311271225	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1324519932	C>A,G	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1489209061	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1555972632	GTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCC	Pathogenic	Intron variant, terminator codon variant, 3 prime UTR variant, splice acceptor variant
rs1555972640	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555972641	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555972655	CT>-	Pathogenic	Stop gained, coding sequence variant
rs1555972666	C>T	Pathogenic	Splice acceptor variant
rs1555972943	TAAGGCCAGTACCCTTACCC>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1555972957	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555972994	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973010	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973021	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555973031	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555973045	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555973058	G>T	Pathogenic	Missense variant, coding sequence variant
rs1555973063	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555973091	CGTGGGCACGCAGTAGA>GATG	Pathogenic	Frameshift variant, coding sequence variant
rs1555973092	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555973115	TT>-,T	Pathogenic	Frameshift variant, coding sequence variant
rs1555973117	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1555973119	->TGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1555973120	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555973131	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555973132	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555973147	GTTTG>CGGAGCTCA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1555973172	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555973189	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569268048	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569268070	GAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569268878	G>A	Pathogenic	Coding sequence variant, stop gained
rs1569268919	TTACCCCCTGGCCTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569268976	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569269179	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569269195	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1601792367	ACCAGC>-	Pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437448	hsa-miR-561-3p	Luciferase reporter assay	24104199

Transcription factors

Transcription factor	Regulation	Reference
ESRRG	Activation	16314306
EWSR1	Unknown	18591936
NR5A1	Activation	11990799
NR5A1	Unknown	7677767
SF1	Unknown	11923472;9232190

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19651776
GO:0000785	Component	Chromatin	ISA
GO:0003006	Process	Developmental process involved in reproduction	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	32433991
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	IMP	19651776
GO:0003723	Function	RNA binding	IDA	10848616
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12771131, 16709599, 16713569, 17686645, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7990953, 10848616, 16709599, 17686645, 19651776
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16709599, 17686645
GO:0005737	Component	Cytoplasm	IEA
GO:0005840	Component	Ribosome	IDA	10848616
GO:0005840	Component	Ribosome	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007530	Process	Sex determination	IBA
GO:0007530	Process	Sex determination	IEA
GO:0008104	Process	Intracellular protein localization	IDA	11875111
GO:0008406	Process	Gonad development	IMP	7990953
GO:0008584	Process	Male gonad development	IBA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	IMP	7990958
GO:0010894	Process	Negative regulation of steroid biosynthetic process	IDA	9384387
GO:0016020	Component	Membrane	IDA	10848616
GO:0016607	Component	Nuclear speck	IDA
GO:0016922	Function	Nuclear receptor binding	IBA
GO:0016922	Function	Nuclear receptor binding	IPI	11875111
GO:0019904	Function	Protein domain specific binding	IPI	15100213, 17686645
GO:0021854	Process	Hypothalamus development	NAS	15464421
GO:0021983	Process	Pituitary gland development	NAS	15464421
GO:0030238	Process	Male sex determination	IEA
GO:0030325	Process	Adrenal gland development	IBA
GO:0030325	Process	Adrenal gland development	IEA
GO:0030325	Process	Adrenal gland development	IMP	7990953
GO:0032448	Function	DNA hairpin binding	IDA	9384387
GO:0033144	Process	Negative regulation of intracellular steroid hormone receptor signaling pathway	IDA	11875111
GO:0033327	Process	Leydig cell differentiation	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035902	Process	Response to immobilization stress	IEA
GO:0035987	Process	Endodermal cell differentiation	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	16709599
GO:0045721	Process	Negative regulation of gluconeogenesis	IDA	19651776
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	7990953, 9384387
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0050682	Function	AF-2 domain binding	IPI	17686645
GO:0060008	Process	Sertoli cell differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19651776

Other IDs

• MIM: 300473
• HGNC: 7960
• e!Ensembl: ENSG00000169297

Protein

• UniProt ID: P51843
• Protein name: Nuclear receptor subfamily 0 group B member 1 (DSS-AHC critical region on the X chromosome protein 1) (Nuclear receptor DAX-1)
• Protein function: Nuclear receptor that lacks a DNA-binding domain and acts as a corepressor that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions (PubMed:12482977, PubMed:32433991). Component of a cascade requir
• PDB: 4RWV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14046	NR_Repeat	1 → 49	Nuclear receptor repeat	Family
  PF14046	NR_Repeat	68 → 115	Nuclear receptor repeat	Family
  PF14046	NR_Repeat	134 → 181	Nuclear receptor repeat	Family
  PF14046	NR_Repeat	201 → 246	Nuclear receptor repeat	Family
  PF00104	Hormone_recep	249 → 453	Ligand-binding domain of nuclear hormone receptor	Domain

• Sequence:

  MAGENHQWQGSILYNMLMSAKQTRAAPEAPETRLVDQCWGCSCGDEPGVGREGLLGGRNV
  ALLYRCCFCGKDHPRQGSILYSMLTSAKQTYAAPKAPEATLGPCWGCSCGSDPGVGRAGL
  PGGRPVALLYRCCFCGEDHPRQGSILYSLLTSSKQTHVAPAAPEARPGGAWWDRSYFAQR
  PGGKEALPGGRATALLYRCCFCGEDHPQQGSTLYCVPTSTNQAQAAPEERPRAPWWDTSS
  GALRPVALKSPQVVCEAASAGLLKTLRFVKYLPCFQVLPLDQQLVLVRNCWASLLMLELA
  QDRLQFETVEVSEPSMLQKILTTRRRETGGNEPLPVPTLQHHLAPPAEARKVPSASQVQA
  IKCFLSKCWSLNISTKEYAYLKGTVLFNPDVPGLQCVKYIQGLQWGTQQILSEHTRMTHQ
  GPHDRFIELNSTLFLLRFINANVIAELFFRPIIGTVSMDDMMLEMLCTKI

• Sequence length: 470

Pathways

KEGG:

Cortisol synthesis and secretion

Reactome:

Nuclear Receptor transcription pathway

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
46,XY sex reversal 2	Pathogenic; Likely pathogenic	rs2147007353, rs2147006209, rs2519049362, rs2519051075, rs2519051933, rs2519049357, rs1214621343, rs2519051723, rs2519051970, rs104894888, rs1569268070, rs1569268976, rs2519051360, rs1191878631, rs2519051604, rs2519050843, rs2519051714, rs1131691564, rs1555973172, rs1555973010, rs1555973131, rs1555973115, rs1555972943, rs104894899, rs767828388, rs1324519932, rs1926563553, rs1926602170, rs1926485824, rs1926565907	RCV001389323 RCV001899630 RCV003064681 RCV003064682 RCV003041429 RCV002861608 RCV002857196 RCV003046637 RCV003044968 RCV001851797 RCV002512973 RCV003764555 RCV003783757 RCV003779429 RCV003797389 RCV003795203 RCV003802477 RCV000763207 RCV001865679 RCV000528817 RCV000540337 RCV000550678 RCV002530827 RCV000635250 RCV000703137 RCV000797777 RCV001037323 RCV001058717 RCV005213508 RCV005213515	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hypoplasia, X-linked	Pathogenic; Likely pathogenic	rs2147007353, rs2147007424, rs2147006209, rs2147007005, rs764476639, rs2519052221, rs2519052283, rs2519049304, rs2519049362, rs2519051075, rs2519051933, rs2519049357, rs1214621343, rs2519051723, rs2519051970, rs1569269179, rs104894890, rs104894886, rs104894887, rs104894888, rs104894889, rs104894891, rs2519051116, rs104894892, rs28935481, rs104894894, rs104894895, rs2519049277, rs2519051194, rs104894896, rs28935482, rs1569268070, rs104894898, rs104894897, rs1569268976, rs104894899, rs104894900, rs104894906, rs104894908, rs373712795, rs1555972666, rs2519051412, rs2519049376, rs2519051360, rs1191878631, rs2519051604, rs2519050843, rs2519051714, rs1060499835, rs1131691564, rs1555972632, rs1555972655, rs1489209061, rs1555973021, rs1555973031, rs753734546, rs1555973058, rs1311271225, rs1555973091, rs1555973092, rs1555973115, rs1555973117, rs1555973119, rs1555973120, rs1555973132, rs1555973172, rs132630327, rs386134262, rs386134263, rs1555973010, rs1555973131, rs1555972640, rs1555972641, rs1555972943, rs1555972957, rs1555972994, rs1555973045, rs1555973063, rs1555973189, rs767828388, rs1569268048, rs1324519932, rs1601792367, rs387907373, rs1926563553, rs1926602170, rs1926485824, rs1926565039, rs1926599738, rs1926565907	RCV001389323 RCV002280832 RCV001899630 RCV002052278 RCV002286488 RCV002289390 RCV002471545 RCV002470403 RCV003064681 RCV003064682 RCV003041429 RCV002861608 RCV002857196 RCV003046637 RCV003044968 RCV000239459 RCV000011696 RCV000011697 RCV000011698 RCV000011699 RCV000011700 RCV000011701 RCV000011702 RCV000011703 RCV000011704 RCV000011705 RCV000011706 RCV000011707 RCV000011708 RCV000011711 RCV000011712 RCV000011714 RCV000011715 RCV000011716 RCV000011717 RCV000011718 RCV000011720 RCV000011722 RCV000011724 RCV003314430 RCV003335926 RCV003340937 RCV004786933 RCV003783757 RCV003779429 RCV003797389 RCV003795203 RCV003802477 RCV000462560 RCV000584087 RCV000513110 RCV000513523 RCV000512813 RCV000512779 RCV000513186 RCV000513603 RCV000513001 RCV000513598 RCV000512986 RCV000513408 RCV000512669 RCV000513078 RCV000513366 RCV000512757 RCV000513071 RCV000513478 RCV000512882 RCV000513037 RCV000030343 RCV000030344 RCV000528817 RCV000540337 RCV000550678 RCV000584295 RCV000583254 RCV000582454 RCV000584385 RCV000583156 RCV000581862 RCV000583015 RCV000581750 RCV000581188 RCV000703137 RCV000714749 RCV000722070 RCV000761451 RCV000049288 RCV001037323 RCV001058717 RCV001257092 RCV001260902 RCV001270620 RCV005213515	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Differences in sex development	Likely pathogenic; Pathogenic	rs2519049376	RCV005865640	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2147007353	RCV005912656	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NR0B1-related disorder	Pathogenic; Likely pathogenic	rs1569268976, rs1926575027, rs2519051351, rs2519049376, rs2519050868	RCV002280091 RCV004527869 RCV004539021 RCV004529799 RCV004534210	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DOSAGE-SENSITIVE SEX REVERSAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mineralocorticoid deficiency, isolated	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SWYER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED ADRENAL HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED ADRENAL HYPOPLASIA CONGENITA	—	GenCC, Orphanet GenCC, 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	BEFREE	24149105		★☆☆☆☆ Found in Text Mining only
46, XX Testicular Disorders of Sex Development	46, XX Gonadal Sex Reversal	ORPHANET_DG	28483799		★☆☆☆☆ Found in Text Mining only
46,XX testicular disorder of sex development	46, XX Gonadal Sex Reversal	Orphanet			★☆☆☆☆ Found in Text Mining only
46,XY complete gonadal dysgenesis	46, XY complete gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	18384427		★☆☆☆☆ Found in Text Mining only
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	25731006	Associate	★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	16061826		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	10022408, 12559852, 15841486, 16355812, 18604556, 22768659, 23384712, 25968435, 26448365, 26464492, 28075027, 29087957, 29176027, 30806790, 31610036, 9709929		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18034892		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	28027912		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19644015, 22843091, 27281610		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12566726, 15181092, 25985323, 29848698, 9661652, 9666878		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18824868		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	26588861, 30665389		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	31122284		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	10412368, 10599708, 10675358, 12943739, 17503084, 18038713, 18762570, 21632081, 23612644, 24197767, 24232823, 26030781, 26448365, 27648561, 28741070, 31164167, 31219797, 9508067		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	12566726		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	12213854, 12519885, 12940459, 18984668, 21227944, 23367499, 25079468, 25402384, 26537215, 34373561, 35432221, 36568103	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	LHGDN	18824868		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	8593542, 9232190, 9661652		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	23185447, 26168243		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	9780232	Associate	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	19826837		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28638138		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28638138		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	37118935	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	24232823		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	24232823		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31594855		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	16275267, 16834661, 26207377, 28741070		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	21227944, 28741070, 35432221	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	16275267		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29439531		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15084237, 23846226, 26458823, 29554092, 30840280, 31141992		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	15084237	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15084237, 22431515, 23846226, 26458823	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30840280	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19920188, 23939428	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15084237, 25985323, 9661652		★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	1736309	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25171651	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33228611, 33407546	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	27778345		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	14611675	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	34691034	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma testes	Testicular carcinoma	BEFREE	23018754		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31543086		★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	20975255, 27648561		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	34373561	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29497051		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29497051		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	20389093		★☆☆☆☆ Found in Text Mining only
Chromosome 11p11.2 Deletion Syndrome	11p11.2 Deletion Syndrome	BEFREE	27615559		★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	BEFREE	30165600		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	11994483, 16437604, 18484673, 19636295, 19733697, 21041985, 22842481, 23675530, 23723167, 24339869, 24651526, 25222661, 25329334, 26019446, 26153869, 26385165, 26451047, 26548451, 26742586, 26818658, 27105524, 27116994, 27473029, 27543807, 27687530, 27709266, 27932454, 27965154, 28120846, 28199527, 28222755, 28224733, 28230865, 28263971, 28267639, 28274798, 28358365, 28439030, 28614718, 28631049, 28641125, 28701721, 28711031, 28726958, 28731213, 28752563, 28766553, 28804459, 28961808, 28979689, 29018440, 29030607, 29136951, 29167641, 29228570, 29228739, 29274006, 29383023, 29411665, 29463799, 29471162, 29535731, 29546052, 29854830, 30179653, 30210688, 30212750, 30214011, 30219846, 30251681, 30315268, 30319652, 30333822, 30386332, 30452921, 30483266, 30487795, 30524422, 30530166, 30530168, 30550872, 30590526, 30715224, 30806428, 30824734, 30873168, 30938416, 30972059, 31018047, 31094420, 31102124, 31202807, 31253778, 31351364, 31358760, 31399193, 31401159, 31417178, 31472273, 31594855, 31737179, 31843928		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25449198, 29442390, 29876980, 30532707, 31146002, 31182925		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22753274, 24282287, 25820779, 27262172, 27433921		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20885960, 25605242, 26756615, 27448759, 27863401, 28057020, 28145888, 28475173, 29197069, 29228570, 29419930, 30391747, 30700439, 31125123, 31182925, 31465837, 31473343, 31477841		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	26756615, 28222755, 29197069, 30391747		★☆☆☆☆ Found in Text Mining only
Complex Glycerol Kinase Deficiency	Complex Glycerol Kinase Deficiency	CTD_human_DG	12519885, 7990958		★☆☆☆☆ Found in Text Mining only
Complex Glycerol Kinase Deficiency	Complex Glycerol Kinase Deficiency	BEFREE	15300857, 17089405, 29361664		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	16684822, 23367499		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	10022408, 10341858, 10412368, 10527669, 10713076, 10727999, 11748841, 11748852, 12034880, 12213854, 12213901, 12530669, 12536356, 12700175, 12773801, 12775766, 12940459, 15181092, 15589120, 15800903, 15841486, 15884018, 16146703, 16275267, 16355812, 16439455, 16459121, 16514244, 16553032, 16887896, 17054473, 17191030, 17210221, 17503084, 17573657, 18038713, 18380948, 18414894, 18604556, 18762570, 18941128, 19508677, 19651776, 19893922, 20573681, 21227944, 21632081, 21672607, 21739173, 22308874, 22570964, 22761912, 23018754, 23263975, 23295288, 23512386, 23585174, 24197767, 25079468, 25402384, 25968435, 26464492, 28741070, 29361664, 30129976, 31280422, 7609262, 7761436, 7990958, 8535061, 8570694, 8630494, 8636263, 8770879, 8864743, 9195207, 9415399, 9658405		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	GENOMICS_ENGLAND_DG	19309798		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	23023242		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	BEFREE	12940459, 15300857, 15860922, 16146703, 9709929		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26564988, 28267639		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	29176027		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deficiency of glycerol kinase	Deficiency Of Glycerol Kinase	BEFREE	15860922, 16887896, 29361664, 9195207		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	24341417, 28979689, 9488160		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29966221		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	10931089, 9709929		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	18762570	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Neurogenic	Neurogenic diabetes insipidus	Pubtator	32460754	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	30536465		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	22761912, 26980296, 29219112	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	16206264, 26168243		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	16232195		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16232195, 32894083	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22675025	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	16206264, 17114343, 18626011, 18927503, 19920188, 22749036, 25093581		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	18591936		★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	BEFREE	11549627, 18414894		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	30319652		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	35984215	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	18384427, 30879272		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	36227713, 36613932	Associate	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	17504899		★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	30879272		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	10341858		★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	39376180	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35784540	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	8784889		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	8784889		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24531914	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28300557		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	16232195	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	17308433		★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoadrenocorticism, familial	Hypoadrenocorticism	CTD_human_DG	12519885, 7990958		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	10689635, 31164167		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	Pubtator	31164167	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	10522996, 14689055, 17803711, 23018754, 23612644, 29176027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	10713076, 11443184, 12213854, 16684822, 17686645, 18380948, 21227944, 22761912, 25402384, 26537215, 28741070, 31642359, 32129306, 32460754, 34373561, 35432221, 37118935, 37237297, 39376180, 8770879	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	LHGDN	18202527		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	CTD_human_DG	7990958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	7990958		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	10341858, 10361383, 10412368, 10446902, 10522996, 10599708, 10599709, 10675358, 10713076, 10714361, 10727999, 10848616, 10931089, 11443184, 11788621, 12034880, 12065932, 12213854, 12629128, 12700175, 12775766, 15589120, 15884018, 16061826, 16459121, 16553032, 16684822, 17054473, 17803711, 18202527, 18380948, 19129717, 19339795, 20573681, 20975255, 21227944, 21632081, 21672607, 22761912, 23295288, 23384712, 23585174, 24197767, 24232823, 25968435, 26464492, 27035099, 28284037, 28741070, 29176027, 29361664, 30179867, 30537713, 31219797, 31280422, 7609262, 7990958, 8570694, 8593542, 8630494, 8636263, 8675564, 8770879, 8855822, 8864743, 8921887, 9027352, 9032275, 9195207, 9232190, 9415399, 9508067		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	7990958		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34691034	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	11079449		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18591936, 19644015		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	28741070, 38200083	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	32860660	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26674743, 28156160, 30093940, 30550995, 30972059, 31772324		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10204842, 12940459, 15300857		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	10204842, 12940459	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	29419930		★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	BEFREE	16835919		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	10714361, 10727999, 11079449, 11531922, 9027352		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25171651		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28965760	Associate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	BEFREE	15379426		★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant hyperthermia susceptibility type 1	Malignant hyperthermia	Pubtator	8770879	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15084237, 23846226, 26458823, 29554092, 30840280, 31141992		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	27778345		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28965760		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	29206831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28648414		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22753274		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20055716, 21799775, 24126910, 27778345, 29439531, 29497051, 30083271, 30152175, 30359174, 30731167, 30907395, 30971761, 31092437		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29497051		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25449198, 29442390, 29876980, 30532707, 31146002, 31182925		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23846226		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10204842, 12940459, 15300857		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29312638, 31355145		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	18762570		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	16887896, 17089405, 19339795, 29361664		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11196414, 15181092, 18465330, 18591936, 19644015, 21799775, 22541662, 24651526, 25171651, 25985323, 26517809, 27717282, 27941378, 28267439, 28686677, 29896300, 30310258, 30472120, 30498394, 30501625, 31122284, 31733286, 9661652		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	12213901, 9590178		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	34941945	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16206264, 27396325		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19726747, 36231133	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	9488160		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11531922, 12536356, 17191030		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26458823		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	16834661, 23384712		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	CTD_human_DG	23384712		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	29206831		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36568103	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29566662		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	27491318		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34941945	Stimulate	★☆☆☆☆ Found in Text Mining only
PEELING SKIN SYNDROME	Peeling Skin Syndrome	BEFREE	27615559		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	16061826		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	18414894, 9360549		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	11549627, 19508677, 27648561, 28284037, 30537713		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	7990958		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28648414		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18827407, 37169162	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	26168243		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	26168243	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	26168243	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	18626011, 19920188, 22749036, 23185447, 25093581, 37298283	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	12213854	Associate	★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	21129722, 21242195, 31746433		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	28687795		★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	23887627, 27615559		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	30879272		★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	22761912	Associate	★☆☆☆☆ Found in Text Mining only
Testicular dysgenesis	Testicular dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	BEFREE	8630494		★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	18984668		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	18384427, 30879272		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26564988, 26818658, 28267639, 29772233, 30175139, 30241336, 30334065, 30530166, 31115770, 31214921, 31399193, 31408067, 31533201, 31553906, 31694526, 31710674		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	10022408, 10323730, 10341858, 10361383, 10412368, 10446902, 10527669, 10599709, 10675358, 10713076, 10727999, 10848616, 10931089, 11079449, 11113848, 11220702, 11443184, 11549627, 11592565, 11748841, 11748852, 11788621, 12034880, 12213854, 12213901, 12519885, 12530669, 12536356, 12629128, 12700175, 12773801, 12775766, 12940459, 14567960, 15181092, 15589120, 15800903, 15841486, 15860922, 15884018, 16061826, 16146703, 16275267, 16355812, 16439455, 16459121, 16514244, 16553032, 16645015, 16887896, 17054473, 17191030, 17210221, 17308433, 17503084, 17573657, 17803711, 18038713, 18202527, 18380948, 18414894, 18604556, 18607630, 18762570, 18941128, 19129717, 19339795, 19508677, 19651776, 19672728, 19893922, 20573681, 20975255, 21227944, 21270512, 21632081, 21672607, 21739173, 22308874, 22456342, 22570964, 22761912, 23018754, 23263975, 23295288, 23512386, 23585174, 24197767, 25003377, 25079468, 25402384, 25968435, 26030781, 26303087, 26448365, 26464492, 26537215, 27035099, 27376611, 27485500, 27648561, 28284037, 28741070, 29087957, 29176027, 29361664, 30129976, 30537713, 31164167, 31219797, 31280422, 7609262, 7761436, 7990953, 7990958, 8535061, 8570694, 8593542, 8630494, 8636263, 8675564, 8770879, 8855822, 8864743, 8921887, 9003500, 9032275, 9195207, 9232190, 9360549, 9415399, 9508067, 9529340, 9566914, 9658405, 9709929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	GENOMICS_ENGLAND_DG	10210708, 19309798		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	UNIPROT_DG	10323730, 10341858, 10675358, 10848616, 11113848, 11443184, 11748852, 11788621, 12629128, 15800903, 7990958, 9003500, 9063431, 9360549, 9415399, 9529340		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	CTD_human_DG	12519885, 7990958		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked adrenal hypoplasia congenita	Congenital Adrenal Hypoplasia, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xp21 Contiguous Gene Deletion Syndrome	Xp21 Contiguous Gene Deletion Syndrome	CTD_human_DG	12519885, 7990958		★☆☆☆☆ Found in Text Mining only
XX males	XX Males	ORPHANET_DG	28483799		★☆☆☆☆ Found in Text Mining only