CIB2 (calcium and integrin binding family member 2)

Gene

• Entrez ID: 10518
• Gene name: Calcium and integrin binding family member 2
• Gene symbol: CIB2
• Synonyms (NCBI Gene): DFNB48, KIP2, USH1J
• Chromosome: 15
• Chromosome location: 15q25.1
• Summary: The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141932061	C>T	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs144346527	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs145415848	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic	Coding sequence variant, missense variant, non coding transcript variant, intron variant, synonymous variant
rs201845656	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs370965183	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs397515411	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397515412	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs765741202	GGGAGCCGAC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024873	hsa-miR-215-5p	Microarray	19074876
MIRT026843	hsa-miR-192-5p	Microarray	19074876
MIRT612036	hsa-miR-572	HITS-CLIP	19536157
MIRT612035	hsa-miR-718	HITS-CLIP	19536157
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT641568	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	19536157
MIRT612035	hsa-miR-718	HITS-CLIP	19536157
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT641568	hsa-miR-4732-3p	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT612038	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT612037	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT612036	hsa-miR-572	HITS-CLIP	23824327
MIRT612035	hsa-miR-718	HITS-CLIP	23824327
MIRT1964838	hsa-miR-1262	CLIP-seq
MIRT1964839	hsa-miR-1343	CLIP-seq
MIRT1964840	hsa-miR-4701-3p	CLIP-seq
MIRT2200847	hsa-miR-1909	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IBA
GO:0000287	Function	Magnesium ion binding	IDA	22779914
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005178	Function	Integrin binding	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	22779914
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	22779914, 23023331
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005927	Component	Muscle tendon junction	IEA
GO:0005929	Component	Cilium	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	23023331, 26173970
GO:0016020	Component	Membrane	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032420	Component	Stereocilium	IBA
GO:0032420	Component	Stereocilium	IDA	26173970, 26426422
GO:0032420	Component	Stereocilium	IEA
GO:0032437	Component	Cuticular plate	IDA	26426422
GO:0042383	Component	Sarcolemma	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	23023331
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0055074	Process	Calcium ion homeostasis	IBA
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0055074	Process	Calcium ion homeostasis	ISS
GO:0071318	Process	Cellular response to ATP	IDA	23023331, 26173970
GO:0071944	Component	Cell periphery	IBA
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 605564
• HGNC: 24579
• e!Ensembl: ENSG00000136425

Protein

• UniProt ID: O75838
• Protein name: Calcium and integrin-binding family member 2 (Kinase-interacting protein 2) (KIP 2)
• Protein function: Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis (By similarity). Acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (By similarity). Essential for m
• PDB: 8XOQ
• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:23023331). {ECO:0000269|PubMed:23023331}.
• Sequence:

  MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLII
  QMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTD
  NFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFL
  STFHIRI

• Sequence length: 187

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
Autosomal recessive nonsyndromic hearing loss 48	Likely pathogenic; Pathogenic	rs780168150, rs397515411, rs370965183, rs397515412, rs145415848, rs765741202	RCV005005222 RCV000032887 RCV000032888 RCV000032889 RCV006249568 RCV002483678	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CIB2-related disorder	Likely pathogenic	rs758251566	RCV003418898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs780168150	RCV001375146	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs397515411, rs370965183	RCV001291223 RCV001291224	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs780168150	RCV005912572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs765741202	RCV000607732	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs780168150	RCV004815495	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome	Pathogenic	rs201845656	RCV003155335	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1	Pathogenic	rs145415848	RCV000223233	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1J	Likely pathogenic; Pathogenic	rs780168150, rs1567047642, rs397515411, rs145415848, rs765741202	RCV005005222 RCV003153285 RCV002496493 RCV000032890 RCV002483678	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood onset hearing loss	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 48	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IJ	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	19109226		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12542400		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	12239171		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21622733		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23275889	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	10220444, 10601037, 10779549, 10958646, 11182628, 11468278, 12949703, 15372379, 15551363, 15900410, 17900986, 19934273, 21816904, 25216674, 27015986, 8640801, 9311733		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10944603		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10071197, 23873832, 28106536		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10944603		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21360479		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22233925, 28729416		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorioangioma	Chorioangioma	BEFREE	15900410		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15279631, 21599798		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21622733		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27302926		★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	12471053, 15279631, 15754295, 16949913, 21767919, 22197173, 23125094, 26161420		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	26572961		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	18505454	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 48	Deafness	BEFREE	23023331, 27771768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 48	Deafness	GENOMICS_ENGLAND_DG	23023331, 9931475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 48	Deafness	UNIPROT_DG	23023331, 26173970, 26426422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 48	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 48	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11723059		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11723059		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35271662	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12239171		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	8842727		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	22233925		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	17595796		★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	26846439		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	15279631		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	14694160		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	21622733		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	29112224, 30303587, 34194829	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	15900410		★☆☆☆☆ Found in Text Mining only
Hemianopsia	Hemianopsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	11021841		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	15754295, 16949913, 21767919, 22197173, 23125094, 23887308, 26846439		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole, Partial	Hydatidiform Mole	BEFREE	15754295, 21767919		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	16949913, 21767919, 22197173, 26846439		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11723059, 16357843		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	14694160		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	16618659		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	16618659		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19533683		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	21360479		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10071197, 23873832, 28106536		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	17595796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21360479		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28729416		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25216674		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10944603		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10220444, 12239171, 19340297, 19734939, 19934273, 21360479, 21769918, 21816904, 28729416, 9121769		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23421998		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16357845		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12239171		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	26985855		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21769918		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10935489, 10944603, 11021841, 12239171, 15279631, 15551363, 15888726, 16357845, 16618659, 19340297, 19734939, 21769918, 23421998, 25216674, 26884185, 28729416, 8640801, 8842727, 9121769, 9311733		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	9121769, 9311733		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16988944, 26497851, 26840018, 27166267		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	15711797, 23023331, 26173970, 27771768, 29084757		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	23023331, 26173970, 26226137, 26445815, 26473954, 27344577, 28263850, 28663585		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28729416		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25216674		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10935489		★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	8640801		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcopenia	Sarcopenia	Pubtator	35271662	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18322470		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11585732		★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	15900410		★☆☆☆☆ Found in Text Mining only
Subcortical cerebral atrophy	Subcortical cerebral atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	15551363		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	23023331, 27771768, 29084757, 29112224, 30174586		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome type 1	Usher Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome, type 1A	Usher Syndrome	BEFREE	26173970		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type I	Usher Syndrome	ORPHANET_DG	23023331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	CLINVAR_DG	23023331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndrome, Type I	Usher Syndrome	BEFREE	26173970		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IJ	Usher Syndrome	GENOMICS_ENGLAND_DG	23023331, 9931475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IJ	Usher Syndrome	UNIPROT_DG	23023331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IJ	Usher Syndrome	CTD_human_DG	23023331		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IJ	Usher Syndrome	BEFREE	26173970, 29084757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
USHER SYNDROME, TYPE IJ	Usher Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher Syndromes	Usher syndrome	Pubtator	25404053, 29112224	Associate	★☆☆☆☆ Found in Text Mining only
WILMS TUMOR 2	Wilms Tumor	BEFREE	9311733		★☆☆☆☆ Found in Text Mining only