SALL4 (spalt like transcription factor 4)

Gene

• Entrez ID: 57167
• Gene name: Spalt like transcription factor 4
• Gene symbol: SALL4
• Synonyms (NCBI Gene): DRRS, HSAL4, IVIC, ZNF797
• Chromosome: 20
• Chromosome location: 20q13.2
• Summary: This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants en

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315424	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs74315425	G>A	Pathogenic	Stop gained, coding sequence variant
rs74315426	T>A	Pathogenic	Stop gained, coding sequence variant
rs74315427	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs74315428	G>A	Pathogenic	Stop gained, coding sequence variant
rs74315429	T>C	Pathogenic	Coding sequence variant, missense variant
rs113920122	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs142551587	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143601538	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs143818932	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, intron variant, synonymous variant
rs146143890	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs146604877	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs149430070	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, coding sequence variant, synonymous variant, upstream transcript variant
rs797044509	->G	Pathogenic	Coding sequence variant, frameshift variant
rs879255537	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057521145	G>A	Pathogenic	Stop gained, coding sequence variant
rs1131691536	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1555850609	TGGGGGTTTGC>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555850961	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568864697	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1568865283	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1568866374	T>-	Likely-pathogenic	Splice acceptor variant
rs1601166963	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1601168015	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1601168967	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1601170510	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1601170799	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1601171949	G>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016935	hsa-miR-335-5p	Microarray	18185580
MIRT438578	hsa-miR-107	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23811124
MIRT438578	hsa-miR-107	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23811124
MIRT438578	hsa-miR-107	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23811124
MIRT438578	hsa-miR-107	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	23811124
MIRT731777	hsa-miR-219a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26238082
MIRT731777	hsa-miR-219a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26238082
MIRT1324926	hsa-miR-103a	CLIP-seq
MIRT1324927	hsa-miR-129-5p	CLIP-seq
MIRT1324928	hsa-miR-1305	CLIP-seq
MIRT1324929	hsa-miR-153	CLIP-seq
MIRT1324930	hsa-miR-15a	CLIP-seq
MIRT1324931	hsa-miR-15b	CLIP-seq
MIRT1324932	hsa-miR-16	CLIP-seq
MIRT1324933	hsa-miR-195	CLIP-seq
MIRT1324934	hsa-miR-219-5p	CLIP-seq
MIRT1324935	hsa-miR-3074-3p	CLIP-seq
MIRT1324936	hsa-miR-30a	CLIP-seq
MIRT1324937	hsa-miR-30b	CLIP-seq
MIRT1324938	hsa-miR-30c	CLIP-seq
MIRT1324939	hsa-miR-30d	CLIP-seq
MIRT1324940	hsa-miR-30e	CLIP-seq
MIRT1324941	hsa-miR-330-3p	CLIP-seq
MIRT1324942	hsa-miR-424	CLIP-seq
MIRT1324943	hsa-miR-4445	CLIP-seq
MIRT1324944	hsa-miR-448	CLIP-seq
MIRT1324945	hsa-miR-450b-5p	CLIP-seq
MIRT1324946	hsa-miR-4782-3p	CLIP-seq
MIRT1324947	hsa-miR-497	CLIP-seq
MIRT1324948	hsa-miR-507	CLIP-seq
MIRT1324949	hsa-miR-508-3p	CLIP-seq
MIRT1324950	hsa-miR-518a-5p	CLIP-seq
MIRT1324951	hsa-miR-527	CLIP-seq
MIRT1324952	hsa-miR-544b	CLIP-seq
MIRT1324953	hsa-miR-557	CLIP-seq
MIRT1324954	hsa-miR-579	CLIP-seq
MIRT1324934	hsa-miR-219-5p	CLIP-seq
MIRT1324936	hsa-miR-30a	CLIP-seq
MIRT1324937	hsa-miR-30b	CLIP-seq
MIRT1324938	hsa-miR-30c	CLIP-seq
MIRT1324939	hsa-miR-30d	CLIP-seq
MIRT1324940	hsa-miR-30e	CLIP-seq
MIRT1324941	hsa-miR-330-3p	CLIP-seq
MIRT1324943	hsa-miR-4445	CLIP-seq
MIRT1324946	hsa-miR-4782-3p	CLIP-seq
MIRT1324949	hsa-miR-508-3p	CLIP-seq
MIRT1324952	hsa-miR-544b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SALL4	Unknown	20505821
STAT3	Activation	19151334

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000792	Component	Heterochromatin	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003281	Process	Ventricular septum development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	21914818
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009888	Process	Tissue development	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 607343
• HGNC: 15924
• e!Ensembl: ENSG00000101115

Protein

• UniProt ID: Q9UJQ4
• Protein name: Sal-like protein 4 (Zinc finger protein 797) (Zinc finger protein SALL4)
• Protein function: Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells.
• PDB: 5XWR, 6UML, 7BQU, 7BQV, 7Y3I, 7Y3K, 7Y3M, 8CUC, 8U15, 8U16, 8U17
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	382 → 404	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	410 → 432	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	594 → 616	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	626 → 648	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	872 → 892	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	898 → 920	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML). {ECO:0000269|PubMed:16763212}.
• Sequence:

  MSRRKQAKPQHINSEEDQGEQQPQQQTPEFADAAPAAPAAGELGAPVNHPGNDEVASEDE
  ATVKRLRREETHVCEKCCAEFFSISEFLEHKKNCTKNPPVLIMNDSEGPVPSEDFSGAVL
  SHQPTSPGSKDCHRENGGSSEDMKEKPDAESVVYLKTETALPPTPQDISYLAKGKVANTN
  VTLQALRGTKVAVNQRSADALPAPVPGANSIPWVLEQILCLQQQQLQQIQLTEQIRIQVN
  MWASHALHSSGAGADTLKTLGSHMSQQVSAAVALLSQKAGSQGLSLDALKQAKLPHANIP
  SATSSLSPGLAPFTLKPDGTRVLPNVMSRLPSALLPQAPGSVLFQSPFSTVALDTSKKGK
  GKPPNISAVDVKPKDEAALYKHKCKYCSKVFGTDSSLQIHLRSHTGERPFVCSVCGHRFT
  TKGNLKVHFHRHPQVKANPQLFAEFQDKVAAGNGIPYALSVPDPIDEPSLSLDSKPVLVT
  TSVGLPQNLSSGTNPKDLTGGSLPGDLQPGPSPESEGGPTLPGVGPNYNSPRAGGFQGSG
  TPEPGSETLKLQQLVENIDKATTDPNECLICHRVLSCQSSLKMHYRTHTGERPFQCKICG
  RAFSTKGNLKTHLGVHRTNTSIKTQHSCPICQKKFTNAVMLQQHIRMHMGGQIPNTPLPE
  NPCDFTGSEPMTVGENGSTGAICHDDVIESIDVEEVSSQEAPSSSSKVPTPLPSIHSASP
  TLGFAMMASLDAPGKVGPAPFNLQRQGSRENGSVESDGLTNDSSSLMGDQEYQSRSPDIL
  ETTSFQALSPANSQAESIKSKSPDAGSKAESSENSRTEMEGRSSLPSTFIRAPPTYVKVE
  VPGTFVGPSTLSPGMTPLLAAQPRRQAKQHGCTRCGKNFSSASALQIHERTHTGEKPFVC
  NICGRAFTTKGNLKVHYMTHGANNNSARRGRKLAIENTMALLGTDGKRVSEIFPKEILAP
  SVNVDPVVWNQYTSMLNGGLAVKTNEISVIQSGGVPTLPVSLGATSVVNNATVSKMDGSQ
  SGISADVEKPSATDGVPKHQFPHFLEENKIAVS

• Sequence length: 1053

Pathways

Reactome:

POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
Transcriptional regulation of pluripotent stem cells
Regulation of PTEN gene transcription

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
Duane-radial ray syndrome	Likely pathogenic; Pathogenic	rs2122966358, rs2122963183, rs2122967143, rs2078032400, rs2122962507, rs2122964551, rs2122965458, rs74315424, rs1601170510, rs1601170799, rs1601168967, rs74315425, rs1601168015, rs1601171949, rs74315426, rs74315427, rs74315428, rs74315429, rs2515714969, rs2515714934, rs141604488, rs2515718577, rs879255537, rs2515716088, rs2515714649, rs2515708636, rs2515716795, rs35471036, rs2515714702, rs1555850961, rs1568864697, rs1568865283, rs1568866374, rs2078031226, rs2078047390	RCV001843831 RCV001920960 RCV002020060 RCV001942194 RCV001922917 RCV002245303 RCV002269253 RCV000003482 RCV000003483 RCV000003484 RCV000003485 RCV000003486 RCV000003487 RCV000003488 RCV000003489 RCV000003490 RCV000003492 RCV000003493 RCV002470640 RCV002839463 RCV002877524 RCV003000119 RCV000239600 RCV002790040 RCV003228721 RCV003330141 RCV003778267 RCV003501578 RCV003500139 RCV000529255 RCV000704462 RCV000693201 RCV004760767 RCV001059757 RCV001172279	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculootoradial syndrome	Pathogenic; Likely pathogenic	rs1601166963, rs1568866374	RCV000003494 RCV001262787	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SALL4-related disorder	Pathogenic; Likely pathogenic	rs2515716795, rs2515714748, rs2515716591	RCV004529310 RCV004529282 RCV004528735	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUANE RETRACTION SYNDROME	—	CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet CTD, ClinVar, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART SEPTAL DEFECTS, VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIMB DEFORMITIES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OKIHIRO SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OKIHIRO SYNDROME DUE TO 20Q13 MICRODELETION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OKIHIRO SYNDROME DUE TO A POINT MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OKIHIRO SYNDROME DUE TO DEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALL4-Related Spectrum Disorders	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acro-renal-ocular syndrome	Duane-radial ray syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16998462		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	18487508		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	28315695, 28970139, 30196987		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	28272224		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	16763212		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	37559082	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	22743134		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29958885		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28849223		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28849223	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	28807863		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	28807863		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27323021		★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Stem Neoplasms	Brain stem neoplasms	Pubtator	28126467	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21274508, 26935744, 27444278, 29511085, 30520112		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23954296, 25919570, 29356399, 29511085, 33308020, 36362083	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26617716	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26617716, 28272224, 28887597, 30196987		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24012616, 24860834, 26973422, 29976840, 30588199, 33406418, 36575044	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21725617, 25646965, 27705911, 29691367		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29958885, 36587397	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32468053	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24525512	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	31584482		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26750614, 27444278		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31336010		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31336010		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	17623483		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	16763212		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	30588199		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	30588199	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	28639477		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17197532	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	27661448	Associate	★☆☆☆☆ Found in Text Mining only
Coloboma of optic disc	Coloboma of optic disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26238082		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35692499	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23363002, 25156818, 26617716, 28869451, 30771239		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23363002, 26617716, 28869451, 32719361, 35692499, 36434637	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Foot Deformity	Congenital deformity of foot	BEFREE	26791099		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	19619907		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	27661448		★☆☆☆☆ Found in Text Mining only
Convergence Insufficiency	Convergence Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	35619068	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	17197532	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	30603774		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	31615341	Associate	★☆☆☆☆ Found in Text Mining only
Dimelia	Dimelia	BEFREE	21862914		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	LHGDN	12393809, 12395297, 15342710, 16086360, 17623483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	12395297, 16411190, 17197532, 21405998, 23687435, 27661448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	12395297, 12843316, 17197532, 18055799, 23687435, 26791099, 27661448, 30067223, 35179219, 36635047, 36829172, 37611564	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane Retraction Syndrome	CTD_human_DG	16402211, 30067223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane retraction syndrome	Duane Retraction Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane Retraction Syndrome, Type 2	Duane syndrome	CTD_human_DG	16402211, 30067223		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome, Type 3	Duane syndrome	CTD_human_DG	16402211, 30067223		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	36714562, 37611564	Associate	★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	30067223	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26407074, 28272224		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	26407074, 28272224, 39258697	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19690622		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	19690622	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Absence epilepsy	Pubtator	30067223	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31864704, 32819319	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	27661448	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	21862914		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	21862914		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29486292		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	24634372, 24743772, 27444278		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25359397, 28943937		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25359397, 28943937		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	23811124, 25359397, 27748823, 27938503, 28887597, 29285179, 29436585, 30423818		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27938503, 29436585, 30423818	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28887597	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	17623483		★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	21258884	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37611564	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	30067223	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24486774, 31388035	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24012616	Stimulate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	BEFREE	12789647, 12843316, 16086360, 28807863, 29461882		★☆☆☆☆ Found in Text Mining only
Holt-Oram syndrome	Holt-Oram Syndrome	CTD_human_DG	30067223		★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	BEFREE	27661448		★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18487508		★☆☆☆☆ Found in Text Mining only
IVIC syndrome	Oculootoradial syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27661448, 37611564	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17557835, 18487508, 21526180, 23287862, 25737450, 31552409		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	21526180, 31653163, 35613022	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16998462, 21526180, 31210317, 31653163	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16763212, 16998462, 17557835, 19781444, 23201546, 23287862, 24051379, 24283704, 25246269, 25737450, 27132514, 30638095, 31210317, 31552409, 31653163		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	16763212		★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	CTD_human_DG	30067223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	23758232, 24860834, 26311355, 27677076, 27725724, 27797380, 28411180, 29593314, 29976840, 30196987, 30588199, 31114369, 31143524, 31650028		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	31446059		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29691367		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23363002, 28869451	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33308020	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16998462		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	16998462	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21274508, 26935744, 27444278, 29511085, 30520112		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26407074		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31143524, 31446059		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21725617, 25646965, 27705911, 29691367		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26750614, 27444278		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27323021		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24078401, 27444278, 29604141, 30127890, 30349378		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21274508, 21526180, 22743134, 24860834, 25359397, 25646965, 26238082, 26892498, 27329034, 27705911, 27983924, 28026002, 28160555, 28582841, 28759035, 28811252, 28943937, 29511085, 29691367, 29958885, 29976840, 30349378, 30907073, 31816404		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31336010		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26238082		★☆☆☆☆ Found in Text Mining only
Malrotation of kidney	Malrotation Of Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27444278		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24525512	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	28811252		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	30626524		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	27661448		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	Pubtator	27661448	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16998462	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16763212, 19781444, 23122807, 24283704, 27132514		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35613022	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	30638095		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30638095		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	26333835		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	26333835	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30907073		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17546590, 23287862, 23363002, 23758232, 25156818, 26407074, 26935744, 27329034, 27444278, 27938506, 28867346, 28869451, 29593314, 30431698, 30451731, 31336010, 31446059, 31799662		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	26317783, 30558081		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	19229884		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32599975	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	27938506, 29691367		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculootoradial syndrome	Oculootoradial Syndrome	BEFREE	17256792		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculootoradial syndrome	Oculootoradial Syndrome	ORPHANET_DG	17256792		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculootoradial syndrome	Oculopalatosekeletal syndrome	Pubtator	36829172	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculootoradial syndrome	Oculootoradial Syndrome	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculootoradial syndrome	Oculootoradial Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Okihiro Syndrome	Duane-radial ray syndrome	BEFREE	12393809, 12395297, 12826753, 12843316, 16086360, 16402211, 16411190, 17623483, 18055799, 19619907, 21405998, 25823593, 26791099, 27661448, 29054766, 30067223, 30603774		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Okihiro Syndrome	Duane-radial ray syndrome	UNIPROT_DG	12393809, 12395297, 16402211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Okihiro Syndrome	Duane-radial ray syndrome	GENOMICS_ENGLAND_DG	12843316, 6426304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Okihiro Syndrome	Duane-radial ray syndrome	ORPHANET_DG	16086360		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Okihiro Syndrome	Duane-radial ray syndrome	CTD_human_DG	16402211, 30067223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Okihiro Syndrome	Duane-radial ray syndrome	CLINVAR_DG	26791099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Okihiro syndrome due to 20q13 microdeletion	Duane-radial ray syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Okihiro syndrome due to a point mutation	Duane-radial ray syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	29241074		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27983924		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	26750614		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	19581335, 25174577, 30603774		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27444278		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22962582, 24525512, 35090523	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29958885		★☆☆☆☆ Found in Text Mining only
Papillorenal syndrome	Papillorenal syndrome	Pubtator	26571382	Associate	★☆☆☆☆ Found in Text Mining only
Phocomelia	Phocomelia	BEFREE	30190590		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	BEFREE	21862914		★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	16998462, 24463278, 31653163		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16998462, 31653163		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16998462		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	19581335, 25174577, 30603774		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27323021		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37119046, 37143720	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	BEFREE	25823593		★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	27705911		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	24525512, 39412932	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24525512	Associate	★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	23363002	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	23411938	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24659265, 27329034, 30431698		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	30431698		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31799662	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24078401, 27444278, 29604141, 30127890, 30349378		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24525512, 34332604, 34706681, 37974386	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	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
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	33224314, 37508506	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	26973422	Stimulate	★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Type 1 Duane Retraction Syndrome	Duane Retraction Syndrome	CTD_human_DG	16402211, 30067223		★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities Congenital	Upper extremity deformity, congenital	Pubtator	37611564	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	19619907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	CTD_human_DG	30067223		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wildervanck`s syndrome	Wildervanck`s Syndrome	CTD_human_DG	30067223		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	21258884, 24525512, 26317783	Associate	★☆☆☆☆ Found in Text Mining only