CDCA7 (cell division cycle associated 7)

Gene

• Entrez ID: 83879
• Gene name: Cell division cycle associated 7
• Gene symbol: CDCA7
• Synonyms (NCBI Gene): ICF3, JPO1
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, su

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs370384522	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs772929976	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs876657409	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879253738	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005056	hsa-let-7b-5p	Microarray	17699775
MIRT002583	hsa-miR-124-3p	Microarray	15685193
MIRT016410	hsa-miR-193b-3p	Microarray	20304954
MIRT002583	hsa-miR-124-3p	Microarray	15685193
MIRT002583	hsa-miR-124-3p	Microarray	18668037
MIRT023434	hsa-miR-30b-5p	Sequencing	20371350
MIRT030505	hsa-miR-24-3p	Microarray	19748357
MIRT524531	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT524530	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT524529	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT086180	hsa-miR-29b-1-5p	PAR-CLIP	20371350
MIRT086189	hsa-miR-1254	PAR-CLIP	20371350
MIRT086190	hsa-miR-3116	PAR-CLIP	20371350
MIRT086186	hsa-miR-661	PAR-CLIP	20371350
MIRT086181	hsa-miR-299-5p	PAR-CLIP	20371350
MIRT086188	hsa-miR-1271-3p	PAR-CLIP	20371350
MIRT086187	hsa-miR-550a-3-5p	PAR-CLIP	20371350
MIRT086185	hsa-miR-550a-5p	PAR-CLIP	20371350
MIRT086182	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT086191	hsa-miR-550b-2-5p	PAR-CLIP	20371350
MIRT524531	hsa-miR-3606-3p	PAR-CLIP	23446348
MIRT524530	hsa-miR-513a-3p	PAR-CLIP	23446348
MIRT524529	hsa-miR-513c-3p	PAR-CLIP	23446348
MIRT086180	hsa-miR-29b-1-5p	PAR-CLIP	23446348
MIRT086192	hsa-miR-4738-3p	PAR-CLIP	23446348
MIRT086189	hsa-miR-1254	PAR-CLIP	23446348
MIRT086190	hsa-miR-3116	PAR-CLIP	23446348
MIRT086186	hsa-miR-661	PAR-CLIP	23446348
MIRT086181	hsa-miR-299-5p	PAR-CLIP	23446348
MIRT086188	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT086187	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT086185	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT086182	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT086191	hsa-miR-550b-2-5p	PAR-CLIP	23446348
MIRT497737	hsa-miR-4668-3p	PAR-CLIP	22291592
MIRT497736	hsa-miR-4804-3p	PAR-CLIP	22291592
MIRT497735	hsa-miR-4720-3p	PAR-CLIP	22291592
MIRT524531	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT524530	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT524529	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT086180	hsa-miR-29b-1-5p	PAR-CLIP	20371350
MIRT086189	hsa-miR-1254	PAR-CLIP	20371350
MIRT086190	hsa-miR-3116	PAR-CLIP	20371350
MIRT086186	hsa-miR-661	PAR-CLIP	20371350
MIRT086181	hsa-miR-299-5p	PAR-CLIP	20371350
MIRT086188	hsa-miR-1271-3p	PAR-CLIP	20371350
MIRT086187	hsa-miR-550a-3-5p	PAR-CLIP	20371350
MIRT086185	hsa-miR-550a-5p	PAR-CLIP	20371350
MIRT086182	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT086191	hsa-miR-550b-2-5p	PAR-CLIP	20371350
MIRT524531	hsa-miR-3606-3p	PAR-CLIP	23446348
MIRT524530	hsa-miR-513a-3p	PAR-CLIP	23446348
MIRT524529	hsa-miR-513c-3p	PAR-CLIP	23446348
MIRT086180	hsa-miR-29b-1-5p	PAR-CLIP	23446348
MIRT086192	hsa-miR-4738-3p	PAR-CLIP	23446348
MIRT086189	hsa-miR-1254	PAR-CLIP	23446348
MIRT086190	hsa-miR-3116	PAR-CLIP	23446348
MIRT086186	hsa-miR-661	PAR-CLIP	23446348
MIRT086181	hsa-miR-299-5p	PAR-CLIP	23446348
MIRT086188	hsa-miR-1271-3p	PAR-CLIP	23446348
MIRT086187	hsa-miR-550a-3-5p	PAR-CLIP	23446348
MIRT086185	hsa-miR-550a-5p	PAR-CLIP	23446348
MIRT086182	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT086191	hsa-miR-550b-2-5p	PAR-CLIP	23446348
MIRT497737	hsa-miR-4668-3p	PAR-CLIP	22291592
MIRT497736	hsa-miR-4804-3p	PAR-CLIP	22291592
MIRT497735	hsa-miR-4720-3p	PAR-CLIP	22291592
MIRT879005	hsa-miR-124	CLIP-seq
MIRT879006	hsa-miR-1270	CLIP-seq
MIRT879007	hsa-miR-1273f	CLIP-seq
MIRT879008	hsa-miR-143	CLIP-seq
MIRT879009	hsa-miR-155	CLIP-seq
MIRT879010	hsa-miR-185	CLIP-seq
MIRT879011	hsa-miR-200b	CLIP-seq
MIRT879012	hsa-miR-200c	CLIP-seq
MIRT879013	hsa-miR-208a	CLIP-seq
MIRT879014	hsa-miR-208b	CLIP-seq
MIRT879015	hsa-miR-2113	CLIP-seq
MIRT879016	hsa-miR-2276	CLIP-seq
MIRT879017	hsa-miR-3121-3p	CLIP-seq
MIRT879018	hsa-miR-3163	CLIP-seq
MIRT879019	hsa-miR-3200-3p	CLIP-seq
MIRT879020	hsa-miR-320e	CLIP-seq
MIRT879021	hsa-miR-340	CLIP-seq
MIRT879022	hsa-miR-3658	CLIP-seq
MIRT879023	hsa-miR-3689a-3p	CLIP-seq
MIRT879024	hsa-miR-3689c	CLIP-seq
MIRT879025	hsa-miR-3692	CLIP-seq
MIRT879026	hsa-miR-374c	CLIP-seq
MIRT879027	hsa-miR-3913-3p	CLIP-seq
MIRT879028	hsa-miR-3978	CLIP-seq
MIRT879029	hsa-miR-4289	CLIP-seq
MIRT879030	hsa-miR-429	CLIP-seq
MIRT879031	hsa-miR-4300	CLIP-seq
MIRT879032	hsa-miR-4306	CLIP-seq
MIRT879033	hsa-miR-4425	CLIP-seq
MIRT879034	hsa-miR-4432	CLIP-seq
MIRT879035	hsa-miR-4496	CLIP-seq
MIRT879036	hsa-miR-4525	CLIP-seq
MIRT879037	hsa-miR-4531	CLIP-seq
MIRT879038	hsa-miR-4644	CLIP-seq
MIRT879039	hsa-miR-4677-3p	CLIP-seq
MIRT879040	hsa-miR-4708-5p	CLIP-seq
MIRT879041	hsa-miR-4716-3p	CLIP-seq
MIRT879042	hsa-miR-4717-3p	CLIP-seq
MIRT879043	hsa-miR-4735-5p	CLIP-seq
MIRT879044	hsa-miR-4770	CLIP-seq
MIRT879045	hsa-miR-4772-3p	CLIP-seq
MIRT879046	hsa-miR-4775	CLIP-seq
MIRT879047	hsa-miR-4779	CLIP-seq
MIRT879048	hsa-miR-4795-3p	CLIP-seq
MIRT879049	hsa-miR-499-5p	CLIP-seq
MIRT879050	hsa-miR-506	CLIP-seq
MIRT879051	hsa-miR-515-5p	CLIP-seq
MIRT879052	hsa-miR-518a-5p	CLIP-seq
MIRT879053	hsa-miR-527	CLIP-seq
MIRT879054	hsa-miR-548an	CLIP-seq
MIRT879055	hsa-miR-548n	CLIP-seq
MIRT879056	hsa-miR-548t	CLIP-seq
MIRT879057	hsa-miR-583	CLIP-seq
MIRT879058	hsa-miR-590-3p	CLIP-seq
MIRT879059	hsa-miR-620	CLIP-seq
MIRT879060	hsa-miR-625	CLIP-seq
MIRT879061	hsa-miR-642b	CLIP-seq
MIRT879062	hsa-miR-655	CLIP-seq
MIRT879063	hsa-miR-920	CLIP-seq
MIRT2197280	hsa-miR-151-3p	CLIP-seq
MIRT2197281	hsa-miR-183	CLIP-seq
MIRT2197282	hsa-miR-3120-3p	CLIP-seq
MIRT2197283	hsa-miR-3908	CLIP-seq
MIRT2197284	hsa-miR-4463	CLIP-seq
MIRT2197285	hsa-miR-4499	CLIP-seq
MIRT2197286	hsa-miR-4520a-3p	CLIP-seq
MIRT2197287	hsa-miR-4520b-3p	CLIP-seq
MIRT2197288	hsa-miR-4756-3p	CLIP-seq
MIRT2197289	hsa-miR-495	CLIP-seq
MIRT879055	hsa-miR-548n	CLIP-seq
MIRT879056	hsa-miR-548t	CLIP-seq
MIRT2197290	hsa-miR-4468	CLIP-seq
MIRT2436215	hsa-miR-1236	CLIP-seq
MIRT2436216	hsa-miR-4528	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	16580749
MYC	Unknown	16580749

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11598121
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0042127	Process	Regulation of cell population proliferation	IDA	11598121
GO:0044729	Function	Hemi-methylated DNA-binding	IDA	39178260

Other IDs

• MIM: 609937
• HGNC: 14628
• e!Ensembl: ENSG00000144354

Protein

• UniProt ID: Q9BWT1
• Protein name: Cell division cycle-associated protein 7 (Protein JPO1)
• Protein function: Participates in MYC-mediated cell transformation and apoptosis; induces anchorage-independent growth and clonogenicity in lymphoblastoid cells. Insufficient to induce tumorigenicity when overexpressed but contributes to MYC-mediated tumorigenesi
• PDB: 8TLK, 8YV8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10497	zf-4CXXC_R1	262 → 360	Zinc-finger domain of monoamine-oxidase A repressor R1	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous with higher level in thymus and small intestine. Overexpressed in a large number of tumors, in blood from patients with acute myelogenous leukemia (AML) and in chronic myelogenous leukemia (CML) blast crisis. {ECO:0000269|Pu
• Sequence:

  MDARRVPQKDLRVKKNLKKFRYVKLISMETSSSSDDSCDSFASDNFANTRLQSVREGCRT
  RSQCRHSGPLRVAMKFPARSTRGATNKKAESRQPSENSVTDSNSDSEDESGMNFLEKRAL
  NIKQNKAMLAKLMSELESFPGSFRGRHPLPGSDSQSRRPRRRTFPGVASRRNPERRARPL
  TRSRSRILGSLDALPMEEEEEEDKYMLVRKRKTVDGYMNEDDLPRSRRSRSSVTLPHIIR
  PVEEITEEELENVCSNSREKIYNRSLGSTCHQCRQKTIDTKTNCRNPDCWGVRGQFCGPC
  LRNRYGEEVRDALLDPNWHCPPCRGICNCSFCRQRDGRCATGVLVYLAKYHGFGNVHAYL
  KSLKQEFEMQA

• Sequence length: 371

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CDCA7-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICF SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency-centromeric instability-facial anomalies syndrome 3	Benign; Likely benign; no classifications from unflagged records; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL B BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN ENDOMETRIOID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31570276		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	15994933		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	15994934		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30151890		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24743323	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	29880607		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	29880607	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37510310	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36860864	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	15994933		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32319649	Stimulate	★☆☆☆☆ Found in Text Mining only
Communicating Hydrocephalus	Communicating Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	24029427		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36056599	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40114265	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37510310, 38181024	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33160365	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24165912	Associate	★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	GENOMICS_ENGLAND_DG	26216346		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
ICF syndrome	Immunodeficiency-centromeric instability-facial anomalies syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency syndrome, variable	Immunodeficiency	BEFREE	26216346		★☆☆☆☆ Found in Text Mining only
Immunodeficiency syndrome, variable	Immunodeficiency	GENOMICS_ENGLAND_DG	26216346		★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	GENOMICS_ENGLAND_DG	26216346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	UNIPROT_DG	26216346		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	GENOMICS_ENGLAND_DG	26216346		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33626918	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	40185033	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32319649	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	31221787		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30151890		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15994934, 30151890		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	15994933		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15994934, 29880607		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34551671	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	26662407		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	26662407	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	26833333		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32716971	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34082692	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30151890		★☆☆☆☆ Found in Text Mining only