SNRPB (small nuclear ribonucleoprotein polypeptides B and B1)

Gene

• Entrez ID: 6628
• Gene name: Small nuclear ribonucleoprotein polypeptides B and B1
• Gene symbol: SNRPB
• Synonyms (NCBI Gene): CCMS, COD, SNRPB1, Sm-B/B', SmB/B', SmB/SmB', snRNP-B
• Chromosome: 20
• Chromosome location: 20p13
• Summary: The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a ro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786201019	C>A,G,T	Pathogenic	Intron variant
rs786201020	C>A,G	Pathogenic	Intron variant
rs786201021	G>T	Pathogenic	Intron variant
rs786201022	G>T	Pathogenic	5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022383	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT045972	hsa-miR-125b-5p	CLASH	23622248
MIRT044720	hsa-miR-320a	CLASH	23622248
MIRT041541	hsa-miR-193b-3p	CLASH	23622248
MIRT508961	hsa-miR-4428	PAR-CLIP	20371350
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT508959	hsa-miR-4681	PAR-CLIP	20371350
MIRT508958	hsa-miR-577	PAR-CLIP	20371350
MIRT508957	hsa-miR-4759	PAR-CLIP	20371350
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	20371350
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	20371350
MIRT508952	hsa-miR-4457	PAR-CLIP	20371350
MIRT508950	hsa-miR-5704	PAR-CLIP	20371350
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT083202	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT508961	hsa-miR-4428	PAR-CLIP	20371350
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT508959	hsa-miR-4681	PAR-CLIP	20371350
MIRT508958	hsa-miR-577	PAR-CLIP	20371350
MIRT508957	hsa-miR-4759	PAR-CLIP	20371350
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	20371350
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	20371350
MIRT508952	hsa-miR-4457	PAR-CLIP	20371350
MIRT508950	hsa-miR-5704	PAR-CLIP	20371350
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT083202	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT508961	hsa-miR-4428	PAR-CLIP	23446348
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	23446348
MIRT508959	hsa-miR-4681	PAR-CLIP	23446348
MIRT508958	hsa-miR-577	PAR-CLIP	23446348
MIRT508957	hsa-miR-4759	PAR-CLIP	23446348
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	23446348
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	23446348
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT508952	hsa-miR-4457	PAR-CLIP	23446348
MIRT508950	hsa-miR-5704	PAR-CLIP	23446348
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	23446348
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	23446348
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	23446348
MIRT083202	hsa-let-7g-3p	PAR-CLIP	23446348
MIRT508961	hsa-miR-4428	PAR-CLIP	20371350
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT508959	hsa-miR-4681	PAR-CLIP	20371350
MIRT508958	hsa-miR-577	PAR-CLIP	20371350
MIRT508957	hsa-miR-4759	PAR-CLIP	20371350
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	20371350
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	20371350
MIRT508952	hsa-miR-4457	PAR-CLIP	20371350
MIRT508950	hsa-miR-5704	PAR-CLIP	20371350
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT083202	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT508961	hsa-miR-4428	PAR-CLIP	20371350
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	20371350
MIRT508959	hsa-miR-4681	PAR-CLIP	20371350
MIRT508958	hsa-miR-577	PAR-CLIP	20371350
MIRT508957	hsa-miR-4759	PAR-CLIP	20371350
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	20371350
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	20371350
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	20371350
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	20371350
MIRT508952	hsa-miR-4457	PAR-CLIP	20371350
MIRT508950	hsa-miR-5704	PAR-CLIP	20371350
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	20371350
MIRT083202	hsa-let-7g-3p	PAR-CLIP	20371350
MIRT508961	hsa-miR-4428	PAR-CLIP	23446348
MIRT508960	hsa-miR-6856-3p	PAR-CLIP	23446348
MIRT508959	hsa-miR-4681	PAR-CLIP	23446348
MIRT508958	hsa-miR-577	PAR-CLIP	23446348
MIRT508957	hsa-miR-4759	PAR-CLIP	23446348
MIRT508956	hsa-miR-6888-5p	PAR-CLIP	23446348
MIRT508955	hsa-miR-4717-5p	PAR-CLIP	23446348
MIRT508954	hsa-miR-15a-3p	PAR-CLIP	23446348
MIRT508953	hsa-miR-1295b-3p	PAR-CLIP	23446348
MIRT508952	hsa-miR-4457	PAR-CLIP	23446348
MIRT508950	hsa-miR-5704	PAR-CLIP	23446348
MIRT508951	hsa-miR-376a-3p	PAR-CLIP	23446348
MIRT508949	hsa-miR-376b-3p	PAR-CLIP	23446348
MIRT083200	hsa-let-7a-2-3p	PAR-CLIP	23446348
MIRT083202	hsa-let-7g-3p	PAR-CLIP	23446348
MIRT1376104	hsa-miR-1207-5p	CLIP-seq
MIRT1376105	hsa-miR-3150b-3p	CLIP-seq
MIRT1376106	hsa-miR-3160-3p	CLIP-seq
MIRT1376107	hsa-miR-3672	CLIP-seq
MIRT1376108	hsa-miR-4261	CLIP-seq
MIRT1376109	hsa-miR-4270	CLIP-seq
MIRT1376110	hsa-miR-4300	CLIP-seq
MIRT1376111	hsa-miR-4441	CLIP-seq
MIRT1376112	hsa-miR-4514	CLIP-seq
MIRT1376113	hsa-miR-4689	CLIP-seq
MIRT1376114	hsa-miR-4692	CLIP-seq
MIRT1376115	hsa-miR-4763-3p	CLIP-seq
MIRT1376116	hsa-miR-4779	CLIP-seq
MIRT1376117	hsa-miR-4784	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT1376119	hsa-miR-920	CLIP-seq
MIRT1376120	hsa-miR-940	CLIP-seq
MIRT1376104	hsa-miR-1207-5p	CLIP-seq
MIRT1376105	hsa-miR-3150b-3p	CLIP-seq
MIRT1376106	hsa-miR-3160-3p	CLIP-seq
MIRT1376121	hsa-miR-340	CLIP-seq
MIRT1376122	hsa-miR-376a	CLIP-seq
MIRT1376123	hsa-miR-376b	CLIP-seq
MIRT1376108	hsa-miR-4261	CLIP-seq
MIRT1376109	hsa-miR-4270	CLIP-seq
MIRT1376110	hsa-miR-4300	CLIP-seq
MIRT1376111	hsa-miR-4441	CLIP-seq
MIRT1376112	hsa-miR-4514	CLIP-seq
MIRT1376113	hsa-miR-4689	CLIP-seq
MIRT1376114	hsa-miR-4692	CLIP-seq
MIRT1376115	hsa-miR-4763-3p	CLIP-seq
MIRT1376117	hsa-miR-4784	CLIP-seq
MIRT1376124	hsa-miR-4795-3p	CLIP-seq
MIRT1376119	hsa-miR-920	CLIP-seq
MIRT1376120	hsa-miR-940	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT1376104	hsa-miR-1207-5p	CLIP-seq
MIRT1376105	hsa-miR-3150b-3p	CLIP-seq
MIRT1376106	hsa-miR-3160-3p	CLIP-seq
MIRT1376108	hsa-miR-4261	CLIP-seq
MIRT1376109	hsa-miR-4270	CLIP-seq
MIRT1376110	hsa-miR-4300	CLIP-seq
MIRT1376111	hsa-miR-4441	CLIP-seq
MIRT1376112	hsa-miR-4514	CLIP-seq
MIRT2111840	hsa-miR-4536	CLIP-seq
MIRT1376113	hsa-miR-4689	CLIP-seq
MIRT1376114	hsa-miR-4692	CLIP-seq
MIRT1376115	hsa-miR-4763-3p	CLIP-seq
MIRT1376116	hsa-miR-4779	CLIP-seq
MIRT1376117	hsa-miR-4784	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT1376119	hsa-miR-920	CLIP-seq
MIRT1376120	hsa-miR-940	CLIP-seq
MIRT1376104	hsa-miR-1207-5p	CLIP-seq
MIRT1376105	hsa-miR-3150b-3p	CLIP-seq
MIRT1376106	hsa-miR-3160-3p	CLIP-seq
MIRT1376107	hsa-miR-3672	CLIP-seq
MIRT1376108	hsa-miR-4261	CLIP-seq
MIRT1376109	hsa-miR-4270	CLIP-seq
MIRT1376110	hsa-miR-4300	CLIP-seq
MIRT1376111	hsa-miR-4441	CLIP-seq
MIRT1376112	hsa-miR-4514	CLIP-seq
MIRT2111840	hsa-miR-4536	CLIP-seq
MIRT1376113	hsa-miR-4689	CLIP-seq
MIRT1376114	hsa-miR-4692	CLIP-seq
MIRT1376115	hsa-miR-4763-3p	CLIP-seq
MIRT1376116	hsa-miR-4779	CLIP-seq
MIRT1376117	hsa-miR-4784	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT1376119	hsa-miR-920	CLIP-seq
MIRT1376120	hsa-miR-940	CLIP-seq
MIRT2629151	hsa-miR-1204	CLIP-seq
MIRT2629152	hsa-miR-125a-5p	CLIP-seq
MIRT2629153	hsa-miR-125b	CLIP-seq
MIRT2629154	hsa-miR-1291	CLIP-seq
MIRT2629155	hsa-miR-328	CLIP-seq
MIRT2629156	hsa-miR-3664-5p	CLIP-seq
MIRT1376107	hsa-miR-3672	CLIP-seq
MIRT2629157	hsa-miR-3915	CLIP-seq
MIRT2629158	hsa-miR-3928	CLIP-seq
MIRT2629159	hsa-miR-4319	CLIP-seq
MIRT2111840	hsa-miR-4536	CLIP-seq
MIRT2629160	hsa-miR-4633-3p	CLIP-seq
MIRT2629161	hsa-miR-4714-5p	CLIP-seq
MIRT2629162	hsa-miR-4734	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT2629163	hsa-miR-544b	CLIP-seq
MIRT2629164	hsa-miR-587	CLIP-seq
MIRT2629165	hsa-miR-658	CLIP-seq
MIRT2629166	hsa-miR-663b	CLIP-seq
MIRT2629151	hsa-miR-1204	CLIP-seq
MIRT2629152	hsa-miR-125a-5p	CLIP-seq
MIRT2629153	hsa-miR-125b	CLIP-seq
MIRT2629154	hsa-miR-1291	CLIP-seq
MIRT2629155	hsa-miR-328	CLIP-seq
MIRT2629156	hsa-miR-3664-5p	CLIP-seq
MIRT1376107	hsa-miR-3672	CLIP-seq
MIRT2629157	hsa-miR-3915	CLIP-seq
MIRT2629158	hsa-miR-3928	CLIP-seq
MIRT2629159	hsa-miR-4319	CLIP-seq
MIRT2111840	hsa-miR-4536	CLIP-seq
MIRT2629160	hsa-miR-4633-3p	CLIP-seq
MIRT2629161	hsa-miR-4714-5p	CLIP-seq
MIRT2629162	hsa-miR-4734	CLIP-seq
MIRT1376118	hsa-miR-495	CLIP-seq
MIRT2629163	hsa-miR-544b	CLIP-seq
MIRT2629164	hsa-miR-587	CLIP-seq
MIRT2629165	hsa-miR-658	CLIP-seq
MIRT2629166	hsa-miR-663b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000387	Process	Spliceosomal snRNP assembly	IDA	18984161
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	28076346, 28781166, 32494006, 36797247
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	15564372, 30975767, 31744343, 33677607
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IPI	18082603
GO:0005515	Function	Protein binding	IPI	8076607, 10500148, 11714716, 11748230, 12065586, 12975319, 15105431, 15494309, 15848170, 16000308, 16087681, 17332742, 18951082, 18984161, 19325628, 21070772, 22365833, 25416956, 28514442, 31515488, 32296183, 32814053, 33961781, 35271311, 37248947, 38225382
GO:0005634	Component	Nucleus	IDA	28076346, 28781166
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	21113136, 30975767, 31744343
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	30975767, 33677607
GO:0005681	Component	Spliceosomal complex	NAS	31744343
GO:0005681	Component	Spliceosomal complex	TAS	2531083
GO:0005682	Component	U5 snRNP	IBA
GO:0005682	Component	U5 snRNP	NAS	15564372
GO:0005683	Component	U7 snRNP	IDA	11574479
GO:0005684	Component	U2-type spliceosomal complex	IDA	32494006, 36797247
GO:0005685	Component	U1 snRNP	IBA
GO:0005685	Component	U1 snRNP	IDA	21113136, 25555158
GO:0005685	Component	U1 snRNP	IEA
GO:0005685	Component	U1 snRNP	IPI	33677607
GO:0005685	Component	U1 snRNP	NAS	15564372
GO:0005686	Component	U2 snRNP	IBA
GO:0005686	Component	U2 snRNP	IEA
GO:0005686	Component	U2 snRNP	NAS	15564372, 31744343
GO:0005687	Component	U4 snRNP	IBA
GO:0005687	Component	U4 snRNP	IDA	21516107
GO:0005687	Component	U4 snRNP	NAS	15564372
GO:0005689	Component	U12-type spliceosomal complex	IDA	15146077
GO:0005697	Component	Telomerase holoenzyme complex	IDA	18082603
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	18984161
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006397	Process	MRNA processing	IEA
GO:0006479	Process	Protein methylation	IDA	18495660
GO:0008380	Process	RNA splicing	IEA
GO:0008380	Process	RNA splicing	TAS	2531083
GO:0030532	Component	Small nuclear ribonucleoprotein complex	TAS	2531083
GO:0034709	Component	Methylosome	IDA	18984161
GO:0034719	Component	SMN-Sm protein complex	IDA	18984161
GO:0036261	Process	7-methylguanosine cap hypermethylation	NAS	15564372
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IBA
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IDA	26912367
GO:0046540	Component	U4/U6 x U5 tri-snRNP complex	IPI	30975767
GO:0070034	Function	Telomerase RNA binding	IPI	18082603
GO:0070990	Function	SnRNP binding	IBA
GO:0071004	Component	U2-type prespliceosome	IBA
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0071204	Component	Histone pre-mRNA 3'end processing complex	IEA
GO:0071208	Function	Histone pre-mRNA DCP binding	IEA
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343
GO:1990446	Function	U1 snRNP binding	IEA
GO:1990447	Function	U2 snRNP binding	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 182282
• HGNC: 11153
• e!Ensembl: ENSG00000125835

Protein

• UniProt ID: P14678
• Protein name: Small nuclear ribonucleoprotein-associated proteins B and B' (snRNP-B) (Sm protein B/B') (Sm-B/B') (SmB/B')
• Protein function: Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (PubMed:11991638, PubMed:18984161, PubMed:19325628, PubMed:25555158, Pu
• PDB: 1D3B, 3CW1, 3JCR, 3PGW, 4PJO, 4WZJ, 5MQF, 5O9Z, 5XJC, 5YZG, 5Z56, 5Z57, 5Z58, 6AH0, 6FF7, 6ICZ, 6ID0, 6ID1, 6QDV, 6QW6, 6QX9, 6V4X, 6Y53, 6Y5Q, 7A5P, 7ABG, 7ABI, 7DVQ, 7EVO, 7QTT, 7VPX, 7W59, 7W5A, 7W5B, 8C6J, 8CH6, 8H6E, 8H6J, 8H6K, 8H6L, 8HK1, 8I0P, 8I0R, 8I0S, 8I0T, 8I0U, 8I0V, 8I0W, 8Q7Q, 8Q7V, 8Q7W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01423	LSM	7 → 82	LSM domain	Domain

• Sequence:

  MTVGKSSKMLQHIDYRMRCILQDGRIFIGTFKAFDKHMNLILCDCDEFRKIKPKNSKQAE
  REEKRVLGLVLLRGENLVSMTVEGPPPKDTGIARVPLAGAAGGPGIGRAAGRGIPAGVPM
  PQAPAGLAGPVRGVGGPSQQVMTPQGRGTVAAAAAAATASIAGAPTQYPPGRGGPPPPMG
  RGAPPPGMMGPPPGMRPPMGPPMGIPPGRGTPMGMPPPGMRPPPPGMRGPPPPGMRPPRP
  

• Sequence length: 240

Pathways

KEGG:

Spliceosome
Systemic lupus erythematosus

Reactome:

SLBP independent Processing of Histone Pre-mRNAs
snRNP Assembly
mRNA Splicing - Major Pathway
mRNA Splicing - Minor Pathway
RNA Polymerase II Transcription Termination
SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs

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
Cerebro-costo-mandibular syndrome	Likely pathogenic; Pathogenic	rs786201019, rs786201020, rs786201021, rs786201022, rs2514423027	RCV000162249 RCV000162250 RCV000162251 RCV000162252 RCV000162253 RCV004555164	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic	rs2085044676	RCV001261285	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated Pierre-Robin syndrome	Likely pathogenic	rs2085044676	RCV001261285	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SNRPB-related disorder	Likely pathogenic; Pathogenic	rs786201019	RCV003416031	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBROCOSTOMANDIBULAR SYNDROME	—	CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet CTD, Disgenet, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired porencephaly	Acquired Porencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acrofacial Dysostosis	Acrofacial Dysostosis	BEFREE	25865758		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20418484	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33289700, 38189879	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35617983	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32631246	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrocostomandibular Syndrome	Cerebrocostomandibular Syndrome	BEFREE	25047197, 25504470, 25865758, 26971886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrocostomandibular Syndrome	Cerebrocostomandibular Syndrome	ORPHANET_DG	25047197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrocostomandibular Syndrome	Cerebrocostomandibular Syndrome	GENOMICS_ENGLAND_DG	25047197		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrocostomandibular Syndrome	Cerebrocostomandibular Syndrome	UNIPROT_DG	25047197, 25504470		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrocostomandibular syndrome	Cerebrocostomandibular Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrocostomandibular Syndrome	Cerebrocostomandibular Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrocostomandibular Syndrome	Cerebrocostomandibular Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrocostomandibular-Like Syndrome	Cerebrocostomandibular-Like Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cleft Soft Palate	Cleft Soft Palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	23150612, 30105367		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	29377742		★☆☆☆☆ 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
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectopic kidney	Ectopic kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	39287291	Associate	★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	30156176		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27287018		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	27287018	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27287018		★☆☆☆☆ Found in Text Mining only
Glossoptosis	Glossoptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	31319590		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22876301	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	11478783		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	11478783		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	11120828, 11478783		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	11478783		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	30032843		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28902867		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	11720283	Associate	★☆☆☆☆ Found in Text Mining only
Nager syndrome	Nager Syndrome	BEFREE	25865758		★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29599350		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31511502		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Porencephalic cyst	Porencephalic cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	29377742		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30105367		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only