MAD2L2 (mitotic arrest deficient 2 like 2)

Gene

• Entrez ID: 10459
• Gene name: Mitotic arrest deficient 2 like 2
• Gene symbol: MAD2L2
• Synonyms (NCBI Gene): FANCV, MAD2B, POLZ2, REV7
• Chromosome: 1
• Chromosome location: 1p36.22
• Summary: The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable o

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057517674	A>C,T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002570	hsa-miR-124-3p	Microarray	18668037
MIRT002570	hsa-miR-124-3p	Microarray	15685193
MIRT047029	hsa-miR-187-3p	CLASH	23622248
MIRT036379	hsa-miR-1229-3p	CLASH	23622248
MIRT1125092	hsa-miR-1324	CLIP-seq
MIRT1125093	hsa-miR-3672	CLIP-seq
MIRT1125094	hsa-miR-4743	CLIP-seq
MIRT1125095	hsa-miR-103a	CLIP-seq
MIRT1125096	hsa-miR-107	CLIP-seq
MIRT1125092	hsa-miR-1324	CLIP-seq
MIRT1125097	hsa-miR-144	CLIP-seq
MIRT1125098	hsa-miR-3127-5p	CLIP-seq
MIRT1125099	hsa-miR-3157-3p	CLIP-seq
MIRT1125093	hsa-miR-3672	CLIP-seq
MIRT1125100	hsa-miR-3918	CLIP-seq
MIRT1125101	hsa-miR-4436b-3p	CLIP-seq
MIRT1125102	hsa-miR-494	CLIP-seq
MIRT1125095	hsa-miR-103a	CLIP-seq
MIRT1125096	hsa-miR-107	CLIP-seq
MIRT2265794	hsa-miR-1275	CLIP-seq
MIRT1125092	hsa-miR-1324	CLIP-seq
MIRT2265795	hsa-miR-1343	CLIP-seq
MIRT1125097	hsa-miR-144	CLIP-seq
MIRT1125099	hsa-miR-3157-3p	CLIP-seq
MIRT2265796	hsa-miR-3612	CLIP-seq
MIRT1125093	hsa-miR-3672	CLIP-seq
MIRT2265797	hsa-miR-4290	CLIP-seq
MIRT2265798	hsa-miR-4459	CLIP-seq
MIRT2265799	hsa-miR-4525	CLIP-seq
MIRT2265800	hsa-miR-4665-5p	CLIP-seq
MIRT2265801	hsa-miR-4667-3p	CLIP-seq
MIRT2265802	hsa-miR-4695-5p	CLIP-seq
MIRT2265803	hsa-miR-4723-5p	CLIP-seq
MIRT1125094	hsa-miR-4743	CLIP-seq
MIRT2265804	hsa-miR-625	CLIP-seq
MIRT2265805	hsa-miR-637	CLIP-seq
MIRT2265806	hsa-miR-650	CLIP-seq
MIRT2265807	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	19443654
GO:0000785	Component	Chromatin	NAS	29656893
GO:0001558	Process	Regulation of cell growth	IGI	15988022
GO:0002208	Process	Somatic diversification of immunoglobulins involved in immune response	NAS	29656893
GO:0003714	Function	Transcription corepressor activity	IMP	19443654
GO:0005515	Function	Protein binding	IPI	10527948, 10531379, 11459826, 11485998, 11717438, 17296730, 17541814, 17719540, 20850016, 21063390, 22828282, 25416956, 26496610, 29656893, 29789392, 32296183, 32814053, 34354233
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17541814, 19443654
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005680	Component	Anaphase-promoting complex	IDA	11459825
GO:0005694	Component	Chromosome	IC	29656893
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IDA	21063390
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006302	Process	Double-strand break repair	IGI	15988022
GO:0006974	Process	DNA damage response	IEA
GO:0007015	Process	Actin filament organization	IMP	19443654
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	TAS	10366450
GO:0008432	Function	JUN kinase binding	IDA	17296730
GO:0010717	Process	Regulation of epithelial to mesenchymal transition	IEA
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IMP	19443654
GO:0010944	Process	Negative regulation of transcription by competitive promoter binding	IMP	19443654
GO:0016035	Component	Zeta DNA polymerase complex	IBA
GO:0016035	Component	Zeta DNA polymerase complex	IDA	20164194
GO:0016035	Component	Zeta DNA polymerase complex	IPI	24449906
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IDA	17296730
GO:0035861	Component	Site of double-strand break	IC	29656893
GO:0035861	Component	Site of double-strand break	NAS	29656893
GO:0042177	Process	Negative regulation of protein catabolic process	IDA	11459826
GO:0042276	Process	Error-prone translesion synthesis	IDA	24449906
GO:0042772	Process	DNA damage response, signal transduction resulting in transcription	IDA	17296730
GO:0043247	Process	Telomere maintenance in response to DNA damage	NAS	29656893
GO:0045830	Process	Positive regulation of isotype switching	IDA	29656893
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	17296730
GO:0051301	Process	Cell division	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	19443654
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	19443654
GO:1904667	Process	Negative regulation of ubiquitin protein ligase activity	IDA	11459826
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	29656893
GO:2000048	Process	Negative regulation of cell-cell adhesion mediated by cadherin	IMP	19443654
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	29656893
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	NAS	29656893

Other IDs

• MIM: 604094
• HGNC: 6764
• e!Ensembl: ENSG00000116670

Protein

• UniProt ID: Q9UI95
• Protein name: Mitotic spindle assembly checkpoint protein MAD2B (Mitotic arrest deficient 2-like protein 2) (MAD2-like protein 2) (REV7 homolog) (hREV7)
• Protein function: Adapter protein able to interact with different proteins and involved in different biological processes (PubMed:11459825, PubMed:11459826, PubMed:17296730, PubMed:17719540, PubMed:19443654, PubMed:29656893). Mediates the interaction between the
• PDB: 3ABD, 3ABE, 3VU7, 4EXT, 4GK0, 4GK5, 5XPT, 5XPU, 6BC8, 6BCD, 6BI7, 6K07, 6K08, 6KEA, 6KTO, 6M7A, 6M7B, 6NIF, 6VE5, 6WS0, 6WS5, 6WW9, 6WWA, 7L9P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02301	HORMA	16 → 135	HORMA domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:11717438}.
• Sequence:

  MTTLTRQDLNFGQVVADVLCEFLEVAVHLILYVREVYPVGIFQKRKKYNVPVQMSCHPEL
  NQYIQDTLHCVKPLLEKNDVEKVVVVILDKEHRPVEKFVFEITQPPLLSISSDSLLSHVE
  QLLRAFILKISVCDAVLDHNPPGCTFTVLVHTREAATRNMEKIQVIKDFPWILADEQDVH
  MHDPRLIPLKTMTSDILKMQLYVEERAHKGS

• Sequence length: 211

Pathways

KEGG:

Cell cycle
Oocyte meiosis
Progesterone-mediated oocyte maturation
Bacterial invasion of epithelial cells

Reactome:

Translesion synthesis by REV1
Translesion synthesis by POLK
Translesion synthesis by POLI

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
Fanconi anemia complementation group V	Pathogenic	rs1057517674	RCV000412563	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA	—	Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP V	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAD2L2-related disorder	Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	26449786		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	31915374	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	37684281	Associate	★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21455670, 27712588		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27712588	Stimulate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cap Myopathy	Cap myopathy	Pubtator	26987799	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27712588	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38049741	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28899455		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24597627		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17044027		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17044027, 29360267		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	17044027		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17044027		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34278473, 36012568, 40018943	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38167649	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17333263		★☆☆☆☆ 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
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26449786		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22660985		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24597627		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	27500492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	ORPHANET_DG	27500492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia	Fanconi Anemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	GENOMICS_ENGLAND_DG	28297620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi anemia	Pubtator	38557443	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	27500492		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP V	Fanconi Anemia	UNIPROT_DG	27500492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP V	Fanconi Anemia	GENOMICS_ENGLAND_DG	27500492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP V	Fanconi Anemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP V	Fanconi Anemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	21514164		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34281455	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	26449786		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27957796		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32655004	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21455670, 27712588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28899455		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26987799		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16618761, 17044027, 27712588		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17044027		★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	37684281	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	GENOMICS_ENGLAND_DG	28297620		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	16618761		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17044027, 17333263, 29360267, 30657231		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26474871		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38167649	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	27500492		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26987799		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32655004	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11717438, 18791270		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	17333263		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	27122545		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30657231		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26152289	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only