Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51119
Gene name	SBDS ribosome maturation factor
Gene symbol	SBDS
Synonyms (NCBI Gene)	CGI-97SDO1SDSSWDS
Chromosome	7
Chromosome location	7q11.21
Summary	This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs113993991	TA>AG	Pathogenic	Coding sequence variant, stop gained
rs113993992	C>G	Pathogenic	Splice donor variant
rs113993993	A>C,G	Risk-factor, pathogenic	Splice donor variant
rs113993994	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs113993995	C>G	Pathogenic	Missense variant, coding sequence variant
rs113993997	C>G,T	Pathogenic	Splice donor variant
rs113993998	G>A	Pathogenic	Coding sequence variant, stop gained
rs120074160	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs201070132	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs774976459	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs779179610	TCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1554341061	->A	Likely-pathogenic	Splice donor variant
rs1584437592	A>G	Likely-pathogenic	Missense variant, coding sequence variant

170

Show/Hide all (170)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016171	hsa-miR-590-3p	Sequencing	20371350
MIRT051786	hsa-let-7c-5p	CLASH	23622248
MIRT1326686	hsa-miR-103a	CLIP-seq
MIRT1326687	hsa-miR-107	CLIP-seq
MIRT1326688	hsa-miR-1183	CLIP-seq
MIRT1326689	hsa-miR-1208	CLIP-seq
MIRT1326690	hsa-miR-1271	CLIP-seq
MIRT1326691	hsa-miR-1297	CLIP-seq
MIRT1326692	hsa-miR-140-3p	CLIP-seq
MIRT1326693	hsa-miR-140-5p	CLIP-seq
MIRT1326694	hsa-miR-182	CLIP-seq
MIRT1326695	hsa-miR-183	CLIP-seq
MIRT1326696	hsa-miR-22	CLIP-seq
MIRT1326697	hsa-miR-26a	CLIP-seq
MIRT1326698	hsa-miR-26b	CLIP-seq
MIRT1326699	hsa-miR-3159	CLIP-seq
MIRT1326700	hsa-miR-335	CLIP-seq
MIRT1326701	hsa-miR-3657	CLIP-seq
MIRT1326702	hsa-miR-3668	CLIP-seq
MIRT1326703	hsa-miR-3684	CLIP-seq
MIRT1326704	hsa-miR-374a	CLIP-seq
MIRT1326705	hsa-miR-374b	CLIP-seq
MIRT1326706	hsa-miR-3910	CLIP-seq
MIRT1326707	hsa-miR-3922-5p	CLIP-seq
MIRT1326708	hsa-miR-3924	CLIP-seq
MIRT1326709	hsa-miR-3978	CLIP-seq
MIRT1326710	hsa-miR-4330	CLIP-seq
MIRT1326711	hsa-miR-4465	CLIP-seq
MIRT1326712	hsa-miR-4496	CLIP-seq
MIRT1326713	hsa-miR-4662a-3p	CLIP-seq
MIRT1326714	hsa-miR-4666-3p	CLIP-seq
MIRT1326715	hsa-miR-4669	CLIP-seq
MIRT1326716	hsa-miR-4803	CLIP-seq
MIRT1326717	hsa-miR-488	CLIP-seq
MIRT1326718	hsa-miR-5096	CLIP-seq
MIRT1326719	hsa-miR-548aa	CLIP-seq
MIRT1326720	hsa-miR-548ag	CLIP-seq
MIRT1326721	hsa-miR-548ai	CLIP-seq
MIRT1326722	hsa-miR-548m	CLIP-seq
MIRT1326723	hsa-miR-550b	CLIP-seq
MIRT1326724	hsa-miR-558	CLIP-seq
MIRT1326725	hsa-miR-568	CLIP-seq
MIRT1326726	hsa-miR-579	CLIP-seq
MIRT1326727	hsa-miR-651	CLIP-seq
MIRT1326728	hsa-miR-873	CLIP-seq
MIRT1326729	hsa-miR-885-3p	CLIP-seq
MIRT1326730	hsa-miR-96	CLIP-seq
MIRT1553227	hsa-miR-323-3p	CLIP-seq
MIRT1553228	hsa-miR-4725-5p	CLIP-seq
MIRT1553229	hsa-miR-504	CLIP-seq
MIRT1326686	hsa-miR-103a	CLIP-seq
MIRT1326687	hsa-miR-107	CLIP-seq
MIRT1326688	hsa-miR-1183	CLIP-seq
MIRT1326695	hsa-miR-183	CLIP-seq
MIRT1326696	hsa-miR-22	CLIP-seq
MIRT1553227	hsa-miR-323-3p	CLIP-seq
MIRT1326700	hsa-miR-335	CLIP-seq
MIRT2097000	hsa-miR-3613-5p	CLIP-seq
MIRT1326710	hsa-miR-4330	CLIP-seq
MIRT1553228	hsa-miR-4725-5p	CLIP-seq
MIRT2097001	hsa-miR-4731-3p	CLIP-seq
MIRT2097002	hsa-miR-4801	CLIP-seq
MIRT1326717	hsa-miR-488	CLIP-seq
MIRT1553229	hsa-miR-504	CLIP-seq
MIRT1326718	hsa-miR-5096	CLIP-seq
MIRT1326720	hsa-miR-548ag	CLIP-seq
MIRT1326721	hsa-miR-548ai	CLIP-seq
MIRT1326722	hsa-miR-548m	CLIP-seq
MIRT1326723	hsa-miR-550b	CLIP-seq
MIRT1326724	hsa-miR-558	CLIP-seq
MIRT1326725	hsa-miR-568	CLIP-seq
MIRT1326726	hsa-miR-579	CLIP-seq
MIRT1326728	hsa-miR-873	CLIP-seq
MIRT1326729	hsa-miR-885-3p	CLIP-seq
MIRT1326690	hsa-miR-1271	CLIP-seq
MIRT1326692	hsa-miR-140-3p	CLIP-seq
MIRT1326694	hsa-miR-182	CLIP-seq
MIRT1326699	hsa-miR-3159	CLIP-seq
MIRT1553227	hsa-miR-323-3p	CLIP-seq
MIRT2097000	hsa-miR-3613-5p	CLIP-seq
MIRT2321365	hsa-miR-3667-5p	CLIP-seq
MIRT1326703	hsa-miR-3684	CLIP-seq
MIRT2321366	hsa-miR-4252	CLIP-seq
MIRT1326710	hsa-miR-4330	CLIP-seq
MIRT1326712	hsa-miR-4496	CLIP-seq
MIRT2321367	hsa-miR-4503	CLIP-seq
MIRT1553228	hsa-miR-4725-5p	CLIP-seq
MIRT1553229	hsa-miR-504	CLIP-seq
MIRT1326725	hsa-miR-568	CLIP-seq
MIRT1326727	hsa-miR-651	CLIP-seq
MIRT1326728	hsa-miR-873	CLIP-seq
MIRT1326730	hsa-miR-96	CLIP-seq
MIRT1326689	hsa-miR-1208	CLIP-seq
MIRT2617601	hsa-miR-1260	CLIP-seq
MIRT2617602	hsa-miR-1260b	CLIP-seq
MIRT2617603	hsa-miR-188-3p	CLIP-seq
MIRT2617604	hsa-miR-191	CLIP-seq
MIRT2617605	hsa-miR-3156-3p	CLIP-seq
MIRT1326699	hsa-miR-3159	CLIP-seq
MIRT2617606	hsa-miR-3198	CLIP-seq
MIRT2097000	hsa-miR-3613-5p	CLIP-seq
MIRT2617607	hsa-miR-3646	CLIP-seq
MIRT1326701	hsa-miR-3657	CLIP-seq
MIRT2321365	hsa-miR-3667-5p	CLIP-seq
MIRT1326702	hsa-miR-3668	CLIP-seq
MIRT2617608	hsa-miR-3671	CLIP-seq
MIRT1326703	hsa-miR-3684	CLIP-seq
MIRT2617609	hsa-miR-371-3p	CLIP-seq
MIRT1326704	hsa-miR-374a	CLIP-seq
MIRT1326705	hsa-miR-374b	CLIP-seq
MIRT2617610	hsa-miR-378	CLIP-seq
MIRT2617611	hsa-miR-378b	CLIP-seq
MIRT2617612	hsa-miR-378c	CLIP-seq
MIRT2617613	hsa-miR-378d	CLIP-seq
MIRT2617614	hsa-miR-378e	CLIP-seq
MIRT2617615	hsa-miR-378f	CLIP-seq
MIRT2617616	hsa-miR-378h	CLIP-seq
MIRT2617617	hsa-miR-378i	CLIP-seq
MIRT1326708	hsa-miR-3924	CLIP-seq
MIRT2617618	hsa-miR-422a	CLIP-seq
MIRT2321366	hsa-miR-4252	CLIP-seq
MIRT2617619	hsa-miR-4261	CLIP-seq
MIRT2617620	hsa-miR-4307	CLIP-seq
MIRT2617621	hsa-miR-4309	CLIP-seq
MIRT2617622	hsa-miR-432	CLIP-seq
MIRT1326712	hsa-miR-4496	CLIP-seq
MIRT2617623	hsa-miR-4638-3p	CLIP-seq
MIRT2617624	hsa-miR-4653-3p	CLIP-seq
MIRT1326713	hsa-miR-4662a-3p	CLIP-seq
MIRT1326715	hsa-miR-4669	CLIP-seq
MIRT1553228	hsa-miR-4725-5p	CLIP-seq
MIRT2097001	hsa-miR-4731-3p	CLIP-seq
MIRT2617625	hsa-miR-4795-3p	CLIP-seq
MIRT2097002	hsa-miR-4801	CLIP-seq
MIRT2617626	hsa-miR-494	CLIP-seq
MIRT1553229	hsa-miR-504	CLIP-seq
MIRT1326719	hsa-miR-548aa	CLIP-seq
MIRT2617627	hsa-miR-562	CLIP-seq
MIRT1326725	hsa-miR-568	CLIP-seq
MIRT1326727	hsa-miR-651	CLIP-seq
MIRT2617628	hsa-miR-885-5p	CLIP-seq
MIRT2617601	hsa-miR-1260	CLIP-seq
MIRT2617602	hsa-miR-1260b	CLIP-seq
MIRT2617603	hsa-miR-188-3p	CLIP-seq
MIRT2617605	hsa-miR-3156-3p	CLIP-seq
MIRT1326699	hsa-miR-3159	CLIP-seq
MIRT2617606	hsa-miR-3198	CLIP-seq
MIRT1326702	hsa-miR-3668	CLIP-seq
MIRT1326703	hsa-miR-3684	CLIP-seq
MIRT1326704	hsa-miR-374a	CLIP-seq
MIRT1326705	hsa-miR-374b	CLIP-seq
MIRT2617610	hsa-miR-378	CLIP-seq
MIRT2617611	hsa-miR-378b	CLIP-seq
MIRT2617612	hsa-miR-378c	CLIP-seq
MIRT2617613	hsa-miR-378d	CLIP-seq
MIRT2617614	hsa-miR-378e	CLIP-seq
MIRT2617615	hsa-miR-378f	CLIP-seq
MIRT2617616	hsa-miR-378h	CLIP-seq
MIRT2617617	hsa-miR-378i	CLIP-seq
MIRT1326708	hsa-miR-3924	CLIP-seq
MIRT2617618	hsa-miR-422a	CLIP-seq
MIRT2321366	hsa-miR-4252	CLIP-seq
MIRT2617621	hsa-miR-4309	CLIP-seq
MIRT2617622	hsa-miR-432	CLIP-seq
MIRT1326712	hsa-miR-4496	CLIP-seq
MIRT2617623	hsa-miR-4638-3p	CLIP-seq
MIRT2617624	hsa-miR-4653-3p	CLIP-seq
MIRT2617625	hsa-miR-4795-3p	CLIP-seq
MIRT1326719	hsa-miR-548aa	CLIP-seq
MIRT1326727	hsa-miR-651	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	18324336, 19759903
GO:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IMP	19759903
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	17475909, 17643419, 20015955, 21044950, 26871637, 30545121, 39251607
GO:0005634	Component	Nucleus	IDA	15860664, 18324336
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IDA	15860664, 17475909
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	15860664, 18324336
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006364	Process	RRNA processing	IMP	17643419
GO:0007052	Process	Mitotic spindle organization	IDA	18324336
GO:0008017	Function	Microtubule binding	IDA	18324336
GO:0019843	Function	RRNA binding	IDA	17475909
GO:0030282	Process	Bone mineralization	IMP	17920346
GO:0030595	Process	Leukocyte chemotaxis	IDA	14743349
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0042256	Process	Cytosolic ribosome assembly	IDA	21536732
GO:0042256	Process	Cytosolic ribosome assembly	IEA
GO:0043022	Function	Ribosome binding	IDA	21536732
GO:0048539	Process	Bone marrow development	IMP	15342903

MIM	HGNC	e!Ensembl
607444	19440	ENSG00000126524

Q9Y3A5

Protein name

Ribosome maturation protein SBDS (Shwachman-Bodian-Diamond syndrome protein)

Protein function

Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80

PDB

2KDO , 2L9N , 5AN9 , 5ANB , 5ANC , 6QKL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01172	SBDS	14 → 101	Shwachman-Bodian-Diamond syndrome (SBDS) protein	Family
PF09377	SBDS_C	107 → 225	SBDS protein C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNV
SKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHTQLEQMFRDIATIVADKCV
NPETKRPYTVILIERAMKDIHYSVKTNKSTKQQALEVIKQLKEKMKIERAHMRLRFILPV
NEGKKLKEKLKPLIKVIESEDYGQQLEIVCLIDPGCFREIDELIKKETKGKGSLEVLNLK
DVEEGDEKFE

Sequence length

250

Interactions

View interactions

	KEGG
	Ribosome biogenesis in eukaryotes

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)

Show/Hide Causal Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs113993993	RCV005887242	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Agenesis of permanent teeth	Likely pathogenic; Pathogenic	rs113993993, rs120074160	RCV000626935 RCV000626934	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Aplastic anemia	Likely pathogenic; Pathogenic	rs1411636529, rs113993991, rs113993993, rs373730800, rs113993990, rs2536932418, rs752809798, rs1376011266, rs2536930205, rs2536932390, rs745661722, rs775057252, rs113993997, rs1793080553, rs2536932319 View all (10 more)	RCV003475533 RCV002496241 RCV000763594 RCV003474976 RCV002503966 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aplastic anemia, susceptibility to	Likely pathogenic; Pathogenic	rs113993993	RCV000003348	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs113993993	RCV005887247	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs113993993	RCV005887241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deeply set eye	Likely pathogenic; Pathogenic	rs113993993, rs120074160	RCV000626935 RCV000626934	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial pancreatic carcinoma	Likely pathogenic; Pathogenic	rs113993993	RCV005887249	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs113993993	RCV005887244	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs113993993, rs120074160	RCV005624667 RCV001293358	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lymphoma	Likely pathogenic; Pathogenic	rs113993993	RCV005887250	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs113993993	RCV005887245	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs113993993	RCV005887243	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs113993993, rs120074160	RCV000626935 RCV000626934	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs113993993	RCV005887246	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic; Pathogenic	rs113993993	RCV005887248	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs113993993	RCV005887251	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SBDS-related disorder	Pathogenic; Likely pathogenic	rs113993991, rs113993993, rs113993994	RCV003904800 RCV003407264 RCV003904855	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Likely pathogenic; Pathogenic	rs113993993, rs120074160	RCV000626935 RCV000626934	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shwachman syndrome	Pathogenic; Likely pathogenic	rs113993991, rs113993993	RCV004017224 RCV001270036	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shwachman-Diamond syndrome 1	Pathogenic; Likely pathogenic	rs1792914342, rs1411636529, rs2129231218, rs113993991, rs113993993, rs2536932431, rs373730800, rs1387962158, rs2536928013, rs113993990, rs2536932418, rs1376011266, rs745661722, rs113993997, rs371133001 View all (8 more)	RCV001335791 RCV003131368 RCV001824235 RCV000003346 RCV000003347 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Splenomegaly	Likely pathogenic; Pathogenic	rs113993993, rs120074160	RCV000626935 RCV000626934	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs113993993	RCV005887252	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Likely pathogenic; Pathogenic	rs113993993	RCV005887253	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA, APLASTIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANODONTIA OF PERMANENT DENTITION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APLASTIC ANEMIA, IDIOPATHIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer-predisposing syndrome	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC APLASTIC ANEMIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SBDS-RELATED SEVERE NEONATAL SPONDYLOMETAPHYSEAL DYSPLASIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHWACHMAN-DIAMOND SYNDROME	—	CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (190)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	18190602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	14974914, 16288654, 16357557, 16954163, 17102078, 17525480, 18726616, 18978332, 19145771, 19522823, 19550080, 19576851, 19802898, 19915015, 20236688 View all (19 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28819017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31713198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	17478638	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	LHGDN	16529906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	21062271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	18324336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28702661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	30579582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29993010, 31434087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29993010, 31434087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28819017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	17478638		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aplastic Anemia	Aplastic anemia	BEFREE	18024409		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aplastic Anemia	Aplastic anemia	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aplastic Anemia	Aplastic anemia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aplastic Anemia	Aplastic anemia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aplastic anemia, idiopathic	Anemia	ORPHANET_DG	17478638		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Block	Atrioventricular block	BEFREE	26676028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16600798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	22371183	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	19016724, 20658628, 34758064, 37450374	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30792990	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16600798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33550277	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	38456787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	20551992, 22972948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney Triad	BEFREE	25622899, 28739378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Body Paraganglioma	Carotid Body Paraganglioma	BEFREE	23433498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	16007594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	28245188, 28791047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31646404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26893822, 31774358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coffin-Siris syndrome	Coffin-Siris Syndrome	BEFREE	28739378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29553848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	18190602, 21062271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	18324336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	23109135, 30189543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	29563149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23083876, 26722403, 31155438, 31579262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29498578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30147321, 30583256, 31214095, 31434087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17106217, 29656861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	31539366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	31539366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	31683476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	30885197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	LHGDN	16529906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	28244688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	17400792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Extra-Adrenal Paraganglioma	Extra-Adrenal Paraganglioma	BEFREE	25742231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	15987702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	17535989, 21173220, 22692282, 23060355, 23109135, 24124608, 24886695, 24951106, 25188872, 25427437, 25883251, 26259135, 26555092, 27317811, 27371698 View all (9 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	28270683, 30887595, 34326133, 35849291, 36005206, 37559050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	31782290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	18678321, 21979946, 22829200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	20569259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	27819754, 30013182		★★★★★ ★☆☆☆☆ Found in Text Mining only
hereditary paraganglioma	Hereditary Paraganglioma	BEFREE	21771581, 23934599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	28270683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27882810, 8986904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic anemia	Hypoplastic anemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic aplastic anemia	Aplastic Anemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	21435510, 29553848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31196706		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited bone marrow failure syndrome	Inherited Bone Marrow Failure Syndrome	BEFREE	18324336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	28760908, 30139820, 30352410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	23083876, 26259135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	38456787	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15701631, 18324336, 21536732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18324336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	19759903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16007594, 28056084, 31546341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	22972948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	22995659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	19211642, 26762974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29200736, 31278950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	29200736		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37885353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31361939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29553848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21979946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	15987702, 23083876, 27819754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	28242546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	21979946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16600798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19016724, 19148133, 19522823, 27211315, 28270683, 28471419, 29967109, 30013182, 31498738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	29720834		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16322339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30792990	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELAS Syndrome	Melas syndrome	Pubtator	24674659	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	8069654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30147321, 30583256, 31434087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	29790179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial Complex Deficiency	BEFREE	16288654, 26008905		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	22972948, 22995659, 28807341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37143433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Respiratory Chain Deficiencies	Mitochondrial Respiratory Chain Deficiencies	BEFREE	27683074		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	18324336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	17102093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	22371183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19222471, 22371183		★★★★★ ★☆☆☆☆ 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
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22371183, 27418648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial necrosis	Myocardial necrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	BEFREE	27941998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15987702, 17102078, 17520677, 18307724, 18726616, 19522823, 20236688, 20503330, 20592014, 20833333, 23060355, 23291190, 23633203, 23717541, 23797725 View all (25 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes, Hereditary	Hereditary Cancer Syndrome	BEFREE	30013182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	22371183	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20503330, 28446034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	28332883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	19211642, 26762974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	19759903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31526385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	12351217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	17400792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	17920346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	17106217, 17920346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	20569259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28702661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	19016724, 26762974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	14595761, 15987702, 16288654, 16304664, 16954163, 17102078, 17208193, 17525480, 17535989, 17987308, 18213727, 18419787, 18978332, 19145771, 19393419 View all (43 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma of head and neck	Paraganglioma of head and neck	BEFREE	14974914, 16405730, 19145771, 20592014, 27967220, 31492822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30187257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	29089407		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	14974914, 16288654, 16357557, 16954163, 17102078, 17525480, 18726616, 18978332, 19145771, 19522823, 19550080, 19576851, 19802898, 19915015, 20236688 View all (16 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	16098468, 19763184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	BEFREE	17102093, 18978332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	30139820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29498578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	23083876, 26476567, 27819754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15987702, 23083876, 26476567, 26722403, 31155438, 31579262		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	31434087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27921389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	29038024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	12496757, 14749921, 14984468, 15284109, 15342903, 15474150, 15701631, 15769891, 15776428, 15860664, 15870673, 16303713, 16529906, 16867904, 17106217 View all (44 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shwachman syndrome	Shwachman Syndrome	CLINVAR_DG	12496757, 14749921, 15284109, 15342903, 15701631, 15860664, 17916435, 21695142, 22934832, 22935661, 23351992, 24388329, 24629175, 24898207, 25729736 View all (4 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shwachman syndrome	Shwachman Syndrome	CLINGEN_DG	12496757, 14749921, 15284109, 15769891, 17475909, 22510201, 23115272, 23602541		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shwachman syndrome	Shwachman Syndrome	GENOMICS_ENGLAND_DG	14749921, 28297620		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shwachman syndrome	Shwachman Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Shwachman-Diamond syndrome	Shwachman-Diamond Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHWACHMAN-DIAMOND SYNDROME 1	Shwachman-Diamond Syndrome	GENOMICS_ENGLAND_DG	12496757, 14749921		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHWACHMAN-DIAMOND SYNDROME 1	Shwachman-Diamond Syndrome	CLINVAR_DG	12496757, 14749921, 15860664, 19148133, 21695142, 22934832, 22935661, 24388329, 24629175, 25525159		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHWACHMAN-DIAMOND SYNDROME 1	Shwachman-Diamond Syndrome	UNIPROT_DG	12496757, 21536732, 24898207		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Situs Inversus	Situs Inversus	BEFREE	31805964		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	17400792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31347070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Slipped Capital Femoral Epiphyses	Slipped Capital Femoral Epiphyses	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	28760908, 30352410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37038789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29093065, 31103768		★★★★★ ★☆☆☆☆ Found in Text Mining only
Succinate-coenzyme Q reductase deficiency	Succinate-Coenzyme Q Reductase Deficiency	BEFREE	22972948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	21979946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	21979946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31731051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	40217479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	15987702		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin a deficiency	Pubtator	22554078	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	16304664, 19915015		★★★★★ ★☆☆☆☆ Found in Text Mining only

SBDS (SBDS ribosome maturation factor)