TINF2 (TERF1 interacting nuclear factor 2)

Gene

• Entrez ID: 26277
• Gene name: TERF1 interacting nuclear factor 2
• Gene symbol: TINF2
• Synonyms (NCBI Gene): DKCA3, DKCA5, TIN2
• Chromosome: 14
• Chromosome location: 14q12
• Summary: This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it int

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918543	T>A,C	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant, missense variant
rs121918544	C>T	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs121918545	G>A,T	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs142777869	G>T	Benign, pathogenic, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs199422311	G>A,C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422313	G>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422314	T>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422315	->G	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs199422316	A>G	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422317	A>G	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422318	GG>CT	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422319	T>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422320	G>-	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs199422321	G>A,T	Benign, pathogenic, likely-benign	Coding sequence variant, 3 prime UTR variant, missense variant
rs199422322	C>T	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, 3 prime UTR variant, missense variant
rs201677741	G>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs387907153	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs387907154	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained
rs756029660	C>-,CC	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs863223324	T>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1060499576	G>T	Likely-pathogenic	Upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1064795632	G>A	Likely-pathogenic	Coding sequence variant, stop gained, 3 prime UTR variant
rs1555304055	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 3 prime UTR variant
rs1566366182	->G	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant
rs1594551449	T>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030020	hsa-miR-26b-5p	Microarray	19088304
MIRT1425492	hsa-miR-3159	CLIP-seq
MIRT1425493	hsa-miR-4274	CLIP-seq
MIRT1425494	hsa-miR-4280	CLIP-seq
MIRT1425495	hsa-miR-4423-3p	CLIP-seq
MIRT1425496	hsa-miR-4477a	CLIP-seq
MIRT1425497	hsa-miR-4477b	CLIP-seq
MIRT1425498	hsa-miR-4519	CLIP-seq
MIRT1425499	hsa-miR-4524	CLIP-seq
MIRT1425500	hsa-miR-4703-3p	CLIP-seq
MIRT1425501	hsa-miR-520d-5p	CLIP-seq
MIRT1425502	hsa-miR-524-5p	CLIP-seq
MIRT1425503	hsa-miR-561	CLIP-seq
MIRT1425504	hsa-miR-944	CLIP-seq
MIRT1425505	hsa-miR-1185	CLIP-seq
MIRT1425506	hsa-miR-1265	CLIP-seq
MIRT1425507	hsa-miR-186	CLIP-seq
MIRT1425508	hsa-miR-2392	CLIP-seq
MIRT1425509	hsa-miR-3179	CLIP-seq
MIRT1425510	hsa-miR-3679-5p	CLIP-seq
MIRT1425511	hsa-miR-3682-5p	CLIP-seq
MIRT1425512	hsa-miR-3714	CLIP-seq
MIRT1425513	hsa-miR-4268	CLIP-seq
MIRT1425514	hsa-miR-4448	CLIP-seq
MIRT1425515	hsa-miR-4742-5p	CLIP-seq
MIRT1425516	hsa-miR-4747-5p	CLIP-seq
MIRT1425517	hsa-miR-4777-5p	CLIP-seq
MIRT1425518	hsa-miR-518d-5p	CLIP-seq
MIRT1425519	hsa-miR-519b-5p	CLIP-seq
MIRT1425520	hsa-miR-519c-5p	CLIP-seq
MIRT1425521	hsa-miR-520c-5p	CLIP-seq
MIRT1425522	hsa-miR-526a	CLIP-seq
MIRT1425523	hsa-miR-583	CLIP-seq
MIRT1425524	hsa-miR-606	CLIP-seq
MIRT1425525	hsa-miR-628-3p	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq
MIRT2127512	hsa-miR-1827	CLIP-seq
MIRT2127513	hsa-miR-2467-3p	CLIP-seq
MIRT2127514	hsa-miR-3150b-3p	CLIP-seq
MIRT2127515	hsa-miR-3160-3p	CLIP-seq
MIRT2127516	hsa-miR-3612	CLIP-seq
MIRT2127517	hsa-miR-3678-3p	CLIP-seq
MIRT2127518	hsa-miR-3685	CLIP-seq
MIRT2127519	hsa-miR-4689	CLIP-seq
MIRT2127520	hsa-miR-4695-5p	CLIP-seq
MIRT2127521	hsa-miR-4722-5p	CLIP-seq
MIRT2127522	hsa-miR-4768-3p	CLIP-seq
MIRT2127523	hsa-miR-4784	CLIP-seq
MIRT1425524	hsa-miR-606	CLIP-seq
MIRT2127524	hsa-miR-650	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq
MIRT1425505	hsa-miR-1185	CLIP-seq
MIRT1425506	hsa-miR-1265	CLIP-seq
MIRT2349251	hsa-miR-1290	CLIP-seq
MIRT1425507	hsa-miR-186	CLIP-seq
MIRT1425508	hsa-miR-2392	CLIP-seq
MIRT2349252	hsa-miR-3167	CLIP-seq
MIRT1425509	hsa-miR-3179	CLIP-seq
MIRT1425510	hsa-miR-3679-5p	CLIP-seq
MIRT2349253	hsa-miR-3691-5p	CLIP-seq
MIRT1425512	hsa-miR-3714	CLIP-seq
MIRT2349254	hsa-miR-4264	CLIP-seq
MIRT2349255	hsa-miR-4273	CLIP-seq
MIRT2349256	hsa-miR-4491	CLIP-seq
MIRT2349257	hsa-miR-4657	CLIP-seq
MIRT2349258	hsa-miR-4677-5p	CLIP-seq
MIRT1425515	hsa-miR-4742-5p	CLIP-seq
MIRT1425516	hsa-miR-4747-5p	CLIP-seq
MIRT2349259	hsa-miR-4752	CLIP-seq
MIRT2349260	hsa-miR-4797-3p	CLIP-seq
MIRT1425523	hsa-miR-583	CLIP-seq
MIRT2349261	hsa-miR-622	CLIP-seq
MIRT2349262	hsa-miR-876-5p	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq
MIRT2642640	hsa-miR-1298	CLIP-seq
MIRT2127512	hsa-miR-1827	CLIP-seq
MIRT2127513	hsa-miR-2467-3p	CLIP-seq
MIRT2127514	hsa-miR-3150b-3p	CLIP-seq
MIRT2127515	hsa-miR-3160-3p	CLIP-seq
MIRT2127516	hsa-miR-3612	CLIP-seq
MIRT2127517	hsa-miR-3678-3p	CLIP-seq
MIRT2127518	hsa-miR-3685	CLIP-seq
MIRT2642641	hsa-miR-4436b-5p	CLIP-seq
MIRT2127519	hsa-miR-4689	CLIP-seq
MIRT2127520	hsa-miR-4695-5p	CLIP-seq
MIRT2127521	hsa-miR-4722-5p	CLIP-seq
MIRT2127522	hsa-miR-4768-3p	CLIP-seq
MIRT2127523	hsa-miR-4784	CLIP-seq
MIRT1425524	hsa-miR-606	CLIP-seq
MIRT2127524	hsa-miR-650	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq
MIRT2642640	hsa-miR-1298	CLIP-seq
MIRT2127512	hsa-miR-1827	CLIP-seq
MIRT2127513	hsa-miR-2467-3p	CLIP-seq
MIRT2127514	hsa-miR-3150b-3p	CLIP-seq
MIRT2127515	hsa-miR-3160-3p	CLIP-seq
MIRT2127516	hsa-miR-3612	CLIP-seq
MIRT2127517	hsa-miR-3678-3p	CLIP-seq
MIRT2127518	hsa-miR-3685	CLIP-seq
MIRT2642641	hsa-miR-4436b-5p	CLIP-seq
MIRT2127519	hsa-miR-4689	CLIP-seq
MIRT2127520	hsa-miR-4695-5p	CLIP-seq
MIRT2127521	hsa-miR-4722-5p	CLIP-seq
MIRT2127522	hsa-miR-4768-3p	CLIP-seq
MIRT2127523	hsa-miR-4784	CLIP-seq
MIRT2693204	hsa-miR-4797-5p	CLIP-seq
MIRT1425524	hsa-miR-606	CLIP-seq
MIRT2127524	hsa-miR-650	CLIP-seq
MIRT1425526	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	9399940

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	10581025, 12768206, 15133513, 15380063, 23685356, 24270157
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000783	Component	Nuclear telomere cap complex	IDA	16880378
GO:0003677	Function	DNA binding	IDA	10581025
GO:0005515	Function	Protein binding	IPI	11701125, 12768206, 15133513, 15181449, 15231715, 15380063, 15383534, 16169070, 16880378, 17589526, 18202258, 19287395, 19487455, 21044950, 25172512, 25416956, 25620558, 25910212, 26496610, 31515488, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0010370	Component	Perinucleolar chromocenter	IDA	15741234
GO:0016233	Process	Telomere capping	IBA
GO:0016233	Process	Telomere capping	IDA	21852327
GO:0016233	Process	Telomere capping	IEA
GO:0016233	Process	Telomere capping	IMP	15133513, 18443218
GO:0016363	Component	Nuclear matrix	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0032202	Process	Telomere assembly	IMP	16880378
GO:0032206	Process	Positive regulation of telomere maintenance	NAS	15383534
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IGI	10581025
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IMP	15133513
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0042162	Function	Telomeric DNA binding	IDA	12768206, 23685356
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	15741234
GO:0070187	Component	Shelterin complex	IBA
GO:0070187	Component	Shelterin complex	IDA	15383534, 23685356
GO:0070187	Component	Shelterin complex	IEA
GO:0070187	Component	Shelterin complex	IMP	21852327
GO:0070187	Component	Shelterin complex	IPI	15383534
GO:0070198	Process	Protein localization to chromosome, telomeric region	IDA	20404094
GO:0070198	Process	Protein localization to chromosome, telomeric region	IMP	15133513, 18443218
GO:1904356	Process	Regulation of telomere maintenance via telomere lengthening	IBA
GO:1904356	Process	Regulation of telomere maintenance via telomere lengthening	IMP	18669893

Other IDs

• MIM: 604319
• HGNC: 11824
• e!Ensembl: ENSG00000092330

Protein

• UniProt ID: Q9BSI4
• Protein name: TERF1-interacting nuclear factor 2 (TRF1-interacting nuclear protein 2)
• Protein function: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its
• PDB: 3BQO, 3BU8, 5XYF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14973	TINF2_N	20 → 169	TERF1-interacting nuclear factor 2 N-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
• Sequence:

  MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMG
  LKAKVVVELILQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQ
  LSEAPVDLASKLQELEQEYGEPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPG
  VSITSSLAWRQYGVDMGWLLPECSVTDSVNLAEPMEQNPPQQQRLALHNPLPKAKPGTHL
  PQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHKERPTVMLFPFRNLGSPTQVI
  SKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPATEQKENCLDCY
  MDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDT
  LIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL

• Sequence length: 451

Pathways

Reactome:

Recognition and association of DNA glycosylase with site containing an affected purine
Cleavage of the damaged purine
Packaging Of Telomere Ends
Telomere Extension By Telomerase
DNA Damage/Telomere Stress Induced Senescence

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
Dyskeratosis congenita	Pathogenic; Likely pathogenic	rs2502456306, rs2502455869, rs121918544, rs121918545, rs2502455630, rs199422315, rs199422314, rs199422316	RCV002421424 RCV002414379 RCV001382425 RCV001382426 RCV001054196 RCV003531078 RCV002514128 RCV002513292 RCV001852639	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita, autosomal dominant 1	Pathogenic; Likely pathogenic	rs121918543, rs121918544, rs121918545, rs199422311, rs199422315, rs199422314, rs199422316	RCV000032165 RCV002490324 RCV000032168 RCV000032169 RCV000032171 RCV000032173 RCV000032174 RCV000032175	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita, autosomal dominant 3	Pathogenic; Likely pathogenic	rs121918543, rs121918544, rs121918545, rs1555304055, rs387907153, rs387907154, rs863223324	RCV000005977 RCV000005978 RCV000005980 RCV000005981 RCV004560351 RCV000024248 RCV000024250 RCV000030737	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Long telomere syndrome	Pathogenic	rs2502468974, rs2502459528	RCV004566523 RCV004566524	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Revesz syndrome	Pathogenic	rs121918544, rs1594551449	RCV000005979 RCV000024249	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TINF2-related disorder	Likely pathogenic; Pathogenic	rs2502455736, rs199422311	RCV003391518 RCV003407386	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Aplastic anemia	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE MARROW DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hoyeraal-Hreidarsson syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Inherited Immunodeficiency Diseases	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary fibrosis	Uncertain significance	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
REVESZ DEBUSE SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID GLAND PAPILLARY CARCINOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute leukemia	Leukemia	BEFREE	12168944		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16786598		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	31268371	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	18669893, 21931702	Associate	★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	18669893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aplastic Anemia	Aplastic anemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Marrow Diseases	Bone Marrow Diseases	CTD_human_DG	18252230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	21865325, 21931702, 25067791, 29742735, 35590014	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	18669893		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23342266, 35590014	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11494028, 12007281, 29552152		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	CTD_human_DG	18252230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)	Cerebroretinal Microangiopathy With Calcifications And Cysts	BEFREE	22387016		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28575699		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	18252230, 18669893, 20979174, 21209122, 21477109, 21536674, 21865325, 22157096, 23242325, 24168326, 24449270, 25067791, 25233904, 26083318, 26230315, 26859482, 27135879, 28095086, 28866069, 29055871, 29550946, 29581185, 29742735		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	LHGDN	18252230, 18669893		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	18252230, 18669893, 21536674, 28297620		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	CTD_human_DG	18252230		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	18252230, 18669893, 19036115, 21199492, 21477109, 21536674, 21865325, 21931702, 22157096, 25067791, 26230315, 26859482, 29055871, 29581185, 29742735, 33734615, 35421215, 35590014, 36498862, 37070599, 37184208	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita	Dyskeratosis Congenita	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	Dyskeratosis Congenita	BEFREE	18979121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	Dyskeratosis Congenita	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3	Dyskeratosis Congenita	UNIPROT_DG	18252230		★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	18252230, 18979121, 21536674		★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3	Dyskeratosis Congenita	CLINVAR_DG	29483670		★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3	Dyskeratosis Congenita	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	BEFREE	25067791		★☆☆☆☆ Found in Text Mining only
Exudative retinopathy	Exudative retinopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35590014	Associate	★☆☆☆☆ Found in Text Mining only
Hoyeraal Hreidarsson syndrome	Hoyeraal hreidarsson syndrome	Pubtator	26810774, 33734615	Associate	★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	ORPHANET_DG	18669893, 21199492, 22078571		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	GENOMICS_ENGLAND_DG	18669893		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertension Portal	Portal hypertension	Pubtator	37184208	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25539146	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	25539146	Associate	★☆☆☆☆ Found in Text Mining only
Inherited bone marrow failure syndrome	Inherited Bone Marrow Failure Syndrome	BEFREE	21865325		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16786598		★☆☆☆☆ Found in Text Mining only
Leukocoria	Leukocoria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15632001		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	37184208	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases Alcoholic	Liver disease	Pubtator	24020493	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26083318		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29130457		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	12530079		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29552152, 29584879, 29891727		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23342266		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25505254		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31928178, 37646013	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	24239198		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	27418648, 28404540	Associate	★☆☆☆☆ Found in Text Mining only
Nail Diseases	Nail Diseases	CTD_human_DG	18252230		★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	36498862	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15949576		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	18979121, 20979174, 21199492, 24449270, 29742735		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20110352	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25539146, 29742735		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	25539146, 29742735	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Revesz Debuse syndrome	Revesz debuse syndrome	Pubtator	18252230, 22387016, 25067791	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Revesz syndrome	Revesz Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
REVESZ SYNDROME (disorder)	Revesz Syndrome	BEFREE	18252230, 28095086, 28866069		★☆☆☆☆ Found in Text Mining only
REVESZ SYNDROME (disorder)	Revesz Syndrome	UNIPROT_DG	18252230		★☆☆☆☆ Found in Text Mining only
REVESZ SYNDROME (disorder)	Revesz Syndrome	ORPHANET_DG	18252230, 21477109		★☆☆☆☆ Found in Text Mining only
REVESZ SYNDROME (disorder)	Revesz Syndrome	GENOMICS_ENGLAND_DG	18252230, 21536674		★☆☆☆☆ Found in Text Mining only
REVESZ SYNDROME (disorder)	Revesz Syndrome	CTD_human_DG	18252230		★☆☆☆☆ Found in Text Mining only
REVESZ SYNDROME (disorder)	Revesz Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	37646013	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	12530079		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12530079		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	25539146, 34826456	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31928178	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31928178, 37646013	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	CTD_human_DG	18252230		★☆☆☆☆ Found in Text Mining only