PUF60 (poly(U) binding splicing factor 60)

Gene

• Entrez ID: 22827
• Gene name: Poly(U) binding splicing factor 60
• Gene symbol: PUF60
• Synonyms (NCBI Gene): FIR, RoBPI, SIAHBP1, VRJS
• Chromosome: 8
• Chromosome location: 8q24.3
• Summary: This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs398123001	G>A	Pathogenic	Coding sequence variant, missense variant
rs886041995	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518046	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307135	C>T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1085307137	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692232	GGGCAAAGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1554643142	CCTGCCCTATGTTGCTGGG>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1554643168	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1554643463	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554643473	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554643584	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554643598	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563826453	TAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1586590135	G>-	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT042259	hsa-miR-484	CLASH	23622248
MIRT038851	hsa-miR-93-3p	CLASH	23622248
MIRT439856	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439856	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1276851	hsa-miR-103a	CLIP-seq
MIRT1276852	hsa-miR-107	CLIP-seq
MIRT1276853	hsa-miR-1285	CLIP-seq
MIRT1276854	hsa-miR-1587	CLIP-seq
MIRT1276855	hsa-miR-15a	CLIP-seq
MIRT1276856	hsa-miR-15b	CLIP-seq
MIRT1276857	hsa-miR-16	CLIP-seq
MIRT1276858	hsa-miR-195	CLIP-seq
MIRT1276859	hsa-miR-3127-5p	CLIP-seq
MIRT1276860	hsa-miR-3187-5p	CLIP-seq
MIRT1276861	hsa-miR-34c-3p	CLIP-seq
MIRT1276862	hsa-miR-378g	CLIP-seq
MIRT1276863	hsa-miR-3918	CLIP-seq
MIRT1276864	hsa-miR-424	CLIP-seq
MIRT1276865	hsa-miR-4492	CLIP-seq
MIRT1276866	hsa-miR-4498	CLIP-seq
MIRT1276867	hsa-miR-4505	CLIP-seq
MIRT1276868	hsa-miR-4530	CLIP-seq
MIRT1276869	hsa-miR-4532	CLIP-seq
MIRT1276870	hsa-miR-4640-5p	CLIP-seq
MIRT1276871	hsa-miR-4656	CLIP-seq
MIRT1276872	hsa-miR-4675	CLIP-seq
MIRT1276873	hsa-miR-4726-5p	CLIP-seq
MIRT1276874	hsa-miR-4741	CLIP-seq
MIRT1276875	hsa-miR-4783-5p	CLIP-seq
MIRT1276876	hsa-miR-497	CLIP-seq
MIRT1276877	hsa-miR-612	CLIP-seq
MIRT1276878	hsa-miR-762	CLIP-seq
MIRT2081487	hsa-miR-3929	CLIP-seq
MIRT2081488	hsa-miR-4419b	CLIP-seq
MIRT2081489	hsa-miR-4478	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000380	Process	Alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IBA
GO:0000381	Process	Regulation of alternative mRNA splicing, via spliceosome	IEA
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 16713569, 18255255, 20711187, 21078624, 21516116, 21988832, 22365833, 25416956, 26871637, 30698747, 32296183, 32814053, 33961781, 39251607
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006376	Process	MRNA splice site recognition	IBA
GO:0006397	Process	MRNA processing	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0030054	Component	Cell junction	IDA
GO:0042802	Function	Identical protein binding	IPI	16189514, 21516116, 22365833, 25416956, 32296183
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 604819
• HGNC: 17042
• e!Ensembl: ENSG00000179950

Protein

• UniProt ID: Q9UHX1
• Protein name: Poly(U)-binding-splicing factor PUF60 (60 kDa poly(U)-binding-splicing factor) (FUSE-binding protein-interacting repressor) (FBP-interacting repressor) (Ro-binding protein 1) (RoBP1) (Siah-binding protein 1) (Siah-BP1)
• Protein function: DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcri
• PDB: 2DNY, 2KXF, 2KXH, 2QFJ, 3DXB, 3UE2, 3US5, 3UWT, 5KVY, 5KW1, 5KW6, 5KWQ, 6LUR, 6SLO, 7Q8A, 7Z3X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00076	RRM_1	131 → 201	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain
  PF00076	RRM_1	228 → 298	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium. Expressed in heart, brain, placen
• Sequence:

  MATATIALQVNGQQGGGSEPAAAAAVVAAGDKWKPPQGTDSIKMENGQSTAAKLGLPPLT
  PEQQEALQKAKKYAMEQSIKSVLVKQTIAHQQQQLTNLQMAAVTMGFGDPLSPLQSMAAQ
  RQRALAIMCRVYVGSIYYELGEDTIRQAFAPFGPIKSIDMSWDSVTMKHKGFAFVEYEVP
  EAAQLALEQMNSVMLGGRNIKVGRPSNIGQAQPIIDQLAEEARAFNRIYVASVHQDLSDD
  DIKSVFEAFGKIKSCTLARDPTTGKHKGYGFIEYEKAQSSQDAVSSMNLFDLGGQYLRVG
  KAVTPPMPLLTPATPGGLPPAAAVAAAAATAKITAQEAVAGAAVLGTLGTPGLVSPALTL
  AQPLGTLPQAVMAAQAPGVITGVTPARPPIPVTIPSVGVVNPILASPPTLGLLEPKKEKE
  EEELFPESERPEMLSEQEHMSISGSSARHMVMQKLLRKQESTVMVLRNMVDPKDIDDDLE
  GEVTEECGKFGAVNRVIIYQEKQGEEEDAEIIVKIFVEFSIASETHKAIQALNGRWFAGR
  KVVAEVYDQERFDNSDLSA

• Sequence length: 559

Pathways

KEGG:

Spliceosome

Reactome:

mRNA Splicing - Major 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
8q24.3 microdeletion syndrome	Pathogenic; Likely pathogenic	rs1816565787, rs2130258214, rs2130256693, rs1064795388, rs2130223089, rs2130244708, rs2130242101, rs2130247180, rs2130242336, rs2130205866, rs2130202692, rs1210239952, rs1464053660, rs1229324113, rs1816618311, rs1554643584, rs2538860667, rs2538860687, rs2538857659, rs2538857600, rs886041995, rs2538841647, rs373613651, rs2538896058, rs2538857317, rs2538855786, rs2538860997, rs1057518046, rs1057518681, rs1554643142, rs1085307135, rs1131692232, rs1554643099, rs1554642573, rs1554643473, rs1554642022, rs1563825893, rs1563826453, rs1563819620, rs1563823411, rs1563818514, rs1586555859, rs1586565506, rs1586590135, rs1816624373, rs1816322210, rs1816551992, rs1816555365, rs1817027997, rs1816565452, rs1816336903, rs398123001	RCV001336869 RCV002246415 RCV001782691 RCV001783649 RCV001807871 RCV001807873 RCV001807874 RCV001810515 RCV001810516 RCV001810517 RCV002071016 RCV002244260 RCV002250279 RCV002250280 RCV002273277 RCV002274454 RCV002289260 RCV002291188 RCV003142480 RCV003149137 RCV005429011 RCV003883999 RCV003883267 RCV003986000 RCV003990065 RCV004018022 RCV004595390 RCV005869409 RCV000415139 RCV001253445 RCV000735802 RCV000495893 RCV000578200 RCV001783079 RCV000622629 RCV001824846 RCV000656527 RCV000709921 RCV000735798 RCV000735799 RCV000735800 RCV000735801 RCV000825004 RCV000985093 RCV000988122 RCV001192879 RCV001249668 RCV001252601 RCV001252600 RCV001252602 RCV001254174 RCV001267730 RCV000077784	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARGE syndrome	Likely pathogenic; Pathogenic	rs1554643584	RCV001034553	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1816565787	RCV005626402	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	Pathogenic	rs2130231971, rs2538860687, rs758941113, rs2538896067, rs1816618311	RCV003492745 RCV003492754 RCV003493285 RCV003493286 RCV003985841	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental abnormality	Pathogenic	rs1816304706	RCV001264671	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Likely pathogenic	rs1816345861	RCV001293637	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PUF60-related disorder	Pathogenic	rs1816304706	RCV003983867	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY, CARDIAC ANOMALIES, SHORT STATURE, JOINT LAXITY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Syndromic intellectual disability	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERHEIJ SYNDROME	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
8q24.3 microdeletion syndrome	8q24.3 microdeletion syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Adult type dermatomyositis	Dermatomyositis	BEFREE	29541951, 30980774		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	27157464	Associate	★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral renal hypoplasia	Bilateral renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Branchioma	Branchioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30697074		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32964046, 32965163, 36497066	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	39781520	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33061812	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	28327570	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16452196, 29719626		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16452196, 22496461, 23594796		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22496461, 23594796, 27756887, 30980774	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	24140112		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of aortic arch	Hypoplastic aortic arch	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	27804958, 28327570	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	27756887, 30980774	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	29541951, 30980774		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	27804958, 28327570	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28327570		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	27804958		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10606266, 10668799, 17579712, 19348700, 19464398, 19854944, 24140112, 24253303, 27804958, 28135719, 28327570, 28990276		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	26241176		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	26241176		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30980774	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36932454	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27804958, 28327570, 29788428		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	27804958, 28327570, 30352594	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27804958, 28327570	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27804958	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemifacial hypoplasia	Hemifacial hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	26497854	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24140112		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	27804958, 28990276, 29788428		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27804958, 28990276, 29788428, 30352594	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24824848		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37682709	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30697074		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	26241176, 29796163		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23594796, 24764668, 29796163		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16452196, 29719626		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	CTD_human_DG	21435101		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	BEFREE	27804958, 30472487		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	27804958, 28327570	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	Pubtator	28327570	Associate	★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	27804958, 33418956	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10606266, 10668799, 17579712, 19348700, 19464398, 19854944, 24140112, 24253303, 27804958, 28135719, 28327570, 28990276		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15517870, 21435101, 25588744, 26241176, 30697074		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28335643, 29775807, 31735362		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20386695	Associate	★☆☆☆☆ Found in Text Mining only
Partial or complete agenesis of corpus callosum	Partial Or Complete Agenesis Of Corpus Callosum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pelvic kidney	Pelvic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27813279		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	27756887, 30980774	Associate	★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	27804958	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30980774		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	25588744		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	22559327, 39781520	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft palate	Submucosal cleft palate	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Supernumerary mesiodens tooth	Supernumerary Mesiodens Tooth	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29541951		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thymus Hyperplasia	Thymus Hyperplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	28327570		★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
VERHEIJ SYNDROME	CHROMOSOME 8q24.3 DELETION SYNDROME	GENOMICS_ENGLAND_DG	19464398, 24140112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERHEIJ SYNDROME	CHROMOSOME 8q24.3 DELETION SYNDROME	UNIPROT_DG	24140112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERHEIJ SYNDROME	CHROMOSOME 8q24.3 DELETION SYNDROME	BEFREE	27804958, 28990276, 30352594, 30472487		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERHEIJ SYNDROME	CHROMOSOME 8q24.3 DELETION SYNDROME	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VERHEIJ SYNDROME	CHROMOSOME 8q24.3 DELETION SYNDROME	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only