IGSF1 (immunoglobulin superfamily member 1)

Gene

• Entrez ID: 3547
• Gene name: Immunoglobulin superfamily member 1
• Gene symbol: IGSF1
• Synonyms (NCBI Gene): CHTE, IGCD1, IGDC1, INHBP, PGSF2, p120
• Chromosome: X
• Chromosome location: Xq26.1
• Summary: This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multip

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514622	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs398122919	C>T	Pathogenic	Genic downstream transcript variant, stop gained, intron variant, coding sequence variant
rs398122920	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs398122921	->A	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1293658262	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1556177186	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, splice donor variant
rs1556181091	TTATACAGAGCAAACCCCATGCCTGCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1603404297	->G	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603404413	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1603404421	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051138	hsa-miR-16-5p	CLASH	23622248
MIRT049172	hsa-miR-92a-3p	CLASH	23622248
MIRT047519	hsa-miR-10a-5p	CLASH	23622248
MIRT047415	hsa-miR-10b-5p	CLASH	23622248
MIRT043576	hsa-miR-148b-3p	CLASH	23622248
MIRT040516	hsa-miR-577	CLASH	23622248
MIRT039303	hsa-miR-425-5p	CLASH	23622248
MIRT1062506	hsa-miR-1275	CLIP-seq
MIRT1062507	hsa-miR-127-5p	CLIP-seq
MIRT1062508	hsa-miR-1302	CLIP-seq
MIRT1062509	hsa-miR-3160-3p	CLIP-seq
MIRT1062510	hsa-miR-3181	CLIP-seq
MIRT1062511	hsa-miR-3944-3p	CLIP-seq
MIRT1062512	hsa-miR-4298	CLIP-seq
MIRT1062513	hsa-miR-4435	CLIP-seq
MIRT1062514	hsa-miR-4487	CLIP-seq
MIRT1062515	hsa-miR-4492	CLIP-seq
MIRT1062516	hsa-miR-4498	CLIP-seq
MIRT1062517	hsa-miR-4505	CLIP-seq
MIRT1062518	hsa-miR-4525	CLIP-seq
MIRT1062519	hsa-miR-4665-5p	CLIP-seq
MIRT1062520	hsa-miR-4715-5p	CLIP-seq
MIRT1062521	hsa-miR-4723-5p	CLIP-seq
MIRT1062522	hsa-miR-4750	CLIP-seq
MIRT1062523	hsa-miR-556-5p	CLIP-seq
MIRT1062524	hsa-miR-558	CLIP-seq
MIRT1062525	hsa-miR-625	CLIP-seq
MIRT1062526	hsa-miR-762	CLIP-seq
MIRT1062527	hsa-let-7a	CLIP-seq
MIRT1062528	hsa-let-7b	CLIP-seq
MIRT1062529	hsa-let-7c	CLIP-seq
MIRT1062530	hsa-let-7d	CLIP-seq
MIRT1062531	hsa-let-7e	CLIP-seq
MIRT1062532	hsa-let-7f	CLIP-seq
MIRT1062533	hsa-let-7g	CLIP-seq
MIRT1062534	hsa-let-7i	CLIP-seq
MIRT1062535	hsa-miR-10a	CLIP-seq
MIRT1062536	hsa-miR-10b	CLIP-seq
MIRT1062537	hsa-miR-1254	CLIP-seq
MIRT1062538	hsa-miR-1294	CLIP-seq
MIRT1062539	hsa-miR-1321	CLIP-seq
MIRT1062540	hsa-miR-1827	CLIP-seq
MIRT1062541	hsa-miR-202	CLIP-seq
MIRT1062542	hsa-miR-2682	CLIP-seq
MIRT1062543	hsa-miR-3065-5p	CLIP-seq
MIRT1062544	hsa-miR-3116	CLIP-seq
MIRT1062545	hsa-miR-3145-3p	CLIP-seq
MIRT1062546	hsa-miR-3163	CLIP-seq
MIRT1062547	hsa-miR-34a	CLIP-seq
MIRT1062548	hsa-miR-34c-5p	CLIP-seq
MIRT1062549	hsa-miR-3612	CLIP-seq
MIRT1062550	hsa-miR-421	CLIP-seq
MIRT1062551	hsa-miR-4270	CLIP-seq
MIRT1062552	hsa-miR-4272	CLIP-seq
MIRT1062553	hsa-miR-4316	CLIP-seq
MIRT1062554	hsa-miR-4441	CLIP-seq
MIRT1062555	hsa-miR-4458	CLIP-seq
MIRT1062556	hsa-miR-449a	CLIP-seq
MIRT1062557	hsa-miR-449b	CLIP-seq
MIRT1062558	hsa-miR-449c	CLIP-seq
MIRT1062559	hsa-miR-4500	CLIP-seq
MIRT1062560	hsa-miR-450b-5p	CLIP-seq
MIRT1062561	hsa-miR-4677-3p	CLIP-seq
MIRT1062562	hsa-miR-4739	CLIP-seq
MIRT1062563	hsa-miR-4756-5p	CLIP-seq
MIRT1062564	hsa-miR-4795-3p	CLIP-seq
MIRT1062565	hsa-miR-515-3p	CLIP-seq
MIRT1062566	hsa-miR-518a-5p	CLIP-seq
MIRT1062567	hsa-miR-519e	CLIP-seq
MIRT1062568	hsa-miR-527	CLIP-seq
MIRT1062569	hsa-miR-548a-3p	CLIP-seq
MIRT1062570	hsa-miR-548e	CLIP-seq
MIRT1062571	hsa-miR-548f	CLIP-seq
MIRT1062572	hsa-miR-550a	CLIP-seq
MIRT1062573	hsa-miR-650	CLIP-seq
MIRT1062574	hsa-miR-661	CLIP-seq
MIRT1062575	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002764	Process	Immune response-regulating signaling pathway	IBA
GO:0005515	Function	Protein binding	IPI	11266516, 12421765
GO:0005576	Component	Extracellular region	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	11266516
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	11266516
GO:0016020	Component	Membrane	IEA
GO:0032926	Process	Negative regulation of activin receptor signaling pathway	IDA	11266516
GO:0034711	Function	Inhibin binding	IDA	11266516
GO:0038102	Function	Activin receptor antagonist activity	IDA	11266516

Other IDs

• MIM: 300137
• HGNC: 5948
• e!Ensembl: ENSG00000147255

Protein

• UniProt ID: Q8N6C5
• Protein name: Immunoglobulin superfamily member 1 (IgSF1) (Immunoglobulin-like domain-containing protein 1) (Inhibin-binding protein) (InhBP) (Pituitary gland-specific factor 2) (p120)
• Protein function: Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13895	Ig_2	37 → 125	Immunoglobulin domain	Domain
  PF13895	Ig_2	322 → 414	Immunoglobulin domain	Domain
  PF13895	Ig_2	780 → 868	Immunoglobulin domain	Domain
  PF13895	Ig_2	874 → 962	Immunoglobulin domain	Domain
  PF13895	Ig_2	970 → 1060	Immunoglobulin domain	Domain
  PF00047	ig	1070 → 1137	Immunoglobulin domain	Domain
  PF13895	Ig_2	1162 → 1247	Immunoglobulin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed in muscle. Isoform 3
• Sequence:

  MTLDRPGEGATMLKTFTVLLFCIRMSLGMTSIVMDPQPELWIESNYPQAPWENITLWCRS
  PSRISSKFLLLKDKTQMTWIRPSHKTFQVSFLIGALTESNAGLYRCCYWKETGWSKPSKV
  LELEAPGQLPKPIFWIQAETPALPGCNVNILCHGWLQDLVFMLFKEGYAEPVDYQVPTGT
  MAIFSIDNLTPEDEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPIMAP
  GESLNLRCQGPIYGMTFALMRVEDLEKSFYHKKTIKNEANFFFQSLKIQDTGHYLCFYYD
  ASYRGSLLSDVLKIWVTDTFPKTWLLARPSAVVQMGQNVSLRCRGPVDGVGLALYKKGED
  KPLQFLDATSIDDNTSFFLNNVTYSDTGIYSCHYLLTWKTSIRMPSHNTVELMVVDKPPK
  PSLSAWPSTVFKLGKAITLQCRVSHPVLEFSLEWEERETFQKFSVNGDFIISNVDGKGTG
  TYSCSYRVETHPNIWSHRSEPLKLMGPAGYLTWNYVLNEAIRLSLIMQLVALLLVVLWIR
  WKCRRLRIREAWLLGTAQGVTMLFIVTALLCCGLCNGVLIEETEIVMPTPKPELWAETNF
  PLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTQSHTGSYHC
  HSWEEMAVSEPSEALELVGTDILPKPVISASPTIRGQELQLRCKGWLAGMGFALYKEGEQ
  EPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEKRPFKWSEPSEPLELVIKEMYPKPF
  FKTWASPVVTPGARVTFNCSTPHQHMSFILYKDGSEIASSDRSWASPGASAAHFLIISVG
  IGDGGNYSCRYYDFSIWSEPSDPVELVVTEFYPKPTLLAQPGPVVFPGKSVILRCQGTFQ
  GMRFALLQEGAHVPLQFRSVSGNSADFLLHTVGAEDSGNYSCIYYETTMSNRGSYLSMPL
  MIWVTDTFPKPWLFAEPSSVVPMGQNVTLWCRGPVHGVGYILHKEGEATSMQLWGSTSND
  GAFPITNISGTSMGRYSCCYHPDWTSSIKIQPSNTLELLVTGLLPKPSLLAQPGPMVAPG
  ENMTLQCQGELPDSTFVLLKEGAQEPLEQQRPSGYRADFWMPAVRGEDSGIYSCVYYLDS
  TPFAASNHSDSLEIWVTDKPPKPSLSAWPSTMFKLGKDITLQCRGPLPGVEFVLEHDGEE
  APQQFSEDGDFVINNVEGKGIGNYSCSYRLQAYPDIWSEPSDPLELVGAAGPVAQECTVG
  NIVRSSLIVVVVVALGVVLAIEWKKWPRLRTRGSETDGRDQTIALEECNQEGEPGTPANS
  PSSTSQRISVELPVPI

• Sequence length: 1336

Pathways

KEGG:

TGF-beta signaling 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
Thyroid cancer, nonmedullary, 1	Pathogenic	rs777462101	RCV005930249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked central congenital hypothyroidism with late-onset testicular enlargement	Pathogenic; Likely pathogenic	rs1220996970, rs1309588455, rs2522216875, rs2522246692, rs2080511514, rs1556181091, rs398122919, rs398122920, rs397514622, rs398122921, rs1603404421, rs1603404413, rs1603404297	RCV001335742 RCV001733842 RCV003146187 RCV003337926 RCV004577632 RCV000033076 RCV000033077 RCV000033078 RCV000033079 RCV000033080 RCV000850405 RCV000850406 RCV000995567	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL ABSENCE OF THYROID GLAND	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATROPHY OF THYROID	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOTHYROIDISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOTHYROIDISM WITHOUT GOITER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism due to TSH receptor mutations	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGSF1-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	25527509		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9815576		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25527509		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31352174		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31352174		★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20550696, 20595387, 28779344, 7829252, 8443798		★☆☆☆☆ Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	Capillary Malformation-Arteriovenous Malformation	BEFREE	28530642		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	9815576		★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	BEFREE	23143598, 24108313, 25354429, 25527509, 26302767, 26840047, 27146357, 28262687, 28324000, 28686733, 31650157		★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	GENOMICS_ENGLAND_DG	24108313		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31352174		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28969027		★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	28515030, 30086211	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	28966634		★☆☆☆☆ Found in Text Mining only
Congenital bilateral ptosis	Congenital bilateral ptosis	BEFREE	24326587		★☆☆☆☆ Found in Text Mining only
Congenital central hypothyroidism	Congenital Central Hypothyroidism	BEFREE	23363888, 23966245, 26302767, 27603907, 27762734, 29425110		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	CTD_human_DG	23143598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	23347178		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	23347178		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	29425110		★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	35456429	Associate	★☆☆☆☆ Found in Text Mining only
Endemic Cretinism	Endemic Cretinism	CTD_human_DG	23143598		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	30086211	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31440166		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31440166		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	10024672		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30086211, 33045800	Associate	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	26840047	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	31448769	Associate	★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	27146357		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	Pubtator	35456429	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	23363888, 23966245, 26735259, 26840047, 28515030, 30086211, 31448769, 32772515, 33045800, 35456429	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	26302767, 27146357, 28262687, 31762227		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	UNIPROT_DG	23143598		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	ORPHANET_DG	23143598		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	GENOMICS_ENGLAND_DG	23143598, 24108313, 26302767		★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	38462462	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	36451838	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	28779344		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	GENOMICS_ENGLAND_DG	24108313		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	10365117		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20595387, 28779344, 8443798		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	9815576		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	12671892		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31343762		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12492499, 23950111, 28969027, 8287366, 8443798		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28969027		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	24108313, 25354429, 26840047, 27310681, 28324000, 30086211		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	20550696		★☆☆☆☆ Found in Text Mining only
Myxedema, Congenital	Congenital myxedema	CTD_human_DG	23143598		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11889215, 12492499, 12671892, 14610055, 23950111, 25527509, 8287366		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30086211, 33045800, 38462462	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	12671892		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	18560202		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35234293	Associate	★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	BEFREE	26302767, 27146357		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	9815576		★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular Diseases	CTD_human_DG	23143598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31343762		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31343762		★☆☆☆☆ Found in Text Mining only
X-linked central congenital hypothyroidism with late-onset testicular enlargement	Central Congenital Hypothyroidism With Testicular Enlargement, X-Linked	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)