CDKN1C (cyclin dependent kinase inhibitor 1C)

Gene

• Entrez ID: 1028
• Gene name: Cyclin dependent kinase inhibitor 1C
• Gene symbol: CDKN1C
• Synonyms (NCBI Gene): BWCR, BWS, KIP2, WBS, p57, p57Kip2
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894200	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs137852766	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606716	G>C,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs318240750	C>A,G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs387906399	AG>C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs387907223	A>C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs387907224	A>G	Pathogenic	Missense variant, coding sequence variant
rs387907225	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs387907226	T>C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs515726203	A>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs546016935	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, synonymous variant, coding sequence variant
rs587777866	A>G	Pathogenic	Splice donor variant
rs759134767	CGGGGCCGGGGCCGGGGC>-,CGGGGC,CGGGGCCGGGGC,CGGGGCCGGGGCCGGGGCCGGGGC,CGGGGCCGGGGCCGGGGCCGGGGCCGGGGC,CGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC,CGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Inframe insertion, coding sequence variant, intron variant, inframe deletion
rs772704243	CGGGGCCGGGGC>-,CGGGGC,CGGGGCCGGGGCCGGGGC	Pathogenic, likely-benign	Coding sequence variant, inframe insertion, inframe deletion, intron variant
rs786205234	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205235	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205236	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205237	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205239	C>TT	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205240	GCCG>CCC	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205241	->AGCGGGGCCGG	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs794726872	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs797045445	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs878853625	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs878853632	AGCCGGAGCCGGAGCCGG>-,AGCCGG,AGCCGGAGCCGG,AGCCGGAGCCGGAGCCGGAGCCGG	Likely-benign, conflicting-interpretations-of-pathogenicity	Inframe insertion, inframe deletion, coding sequence variant, intron variant
rs886037912	C>A	Pathogenic	Missense variant, coding sequence variant
rs1554937726	CGGTGCCGGCCG>GCAC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554937790	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554937847	->GCGGGGGCCGGGGCCGGGGCCGGGG	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554938069	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554938087	TCGAGGCC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554938194	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554938197	->CCAGCTGGAA	Pathogenic	Coding sequence variant, frameshift variant
rs1564929426	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1564929520	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1564929584	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1564929735	CC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1590150660	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002272	hsa-miR-221-3p	Reporter assay	18521080
MIRT002272	hsa-miR-221-3p	Luciferase reporter assay, Western blot	18413744
MIRT000719	hsa-miR-222-3p	Luciferase reporter assay, Western blot	18413744
MIRT004293	hsa-miR-92b-3p	Luciferase reporter assay, Western blot	19544458
MIRT004293	hsa-miR-92b-3p	Luciferase reporter assay, Western blot	19544458
MIRT004317	hsa-miR-25-3p	qRT-PCR, Luciferase reporter assay, Western blot	19153141
MIRT000719	hsa-miR-222-3p	qRT-PCR, Luciferase reporter assay, Western blot	19153141
MIRT002272	hsa-miR-221-3p	qRT-PCR, Luciferase reporter assay, Western blot	19153141
MIRT000719	hsa-miR-222-3p	Luciferase reporter assay, Western blot	19589872
MIRT002272	hsa-miR-221-3p	Luciferase reporter assay, qRT-PCR, Western blot, Northern blot	18521080
MIRT002272	hsa-miR-221-3p	Luciferase reporter assay	18521080
MIRT000719	hsa-miR-222-3p	Luciferase reporter assay	18413744
MIRT002272	hsa-miR-221-3p	Luciferase reporter assay, qRT-PCR, Western blot	21278784
MIRT000719	hsa-miR-222-3p	qRT-PCR	23447020
MIRT018103	hsa-miR-335-5p	Microarray	18185580
MIRT000719	hsa-miR-222-3p	Reporter assay;Other	18413744
MIRT002272	hsa-miR-221-3p	Reporter assay;Microarray	20018759
MIRT002272	hsa-miR-221-3p	Reporter assay	18413744

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Unknown	20106982
HOXA10	Repression	15749785
KLF4	Activation	19544095
PROX1	Activation	17069925
VHL	Activation	15824735

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001890	Process	Placenta development	IEA
GO:0004860	Function	Protein kinase inhibitor activity	IEA
GO:0004860	Function	Protein kinase inhibitor activity	IMP	11746698
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	9106657, 16289477, 18660753, 19170105, 22634751, 28425505, 33961781
GO:0005634	Component	Nucleus	IDA	16943770
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	16943770
GO:0007096	Process	Regulation of exit from mitosis	IEA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030325	Process	Adrenal gland development	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	16943770
GO:0033673	Process	Negative regulation of kinase activity	IDA	19170105
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042326	Process	Negative regulation of phosphorylation	IDA	19170105
GO:0042551	Process	Neuron maturation	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	11746698
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	19170105
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IGI	19170105
GO:0045930	Process	Negative regulation of mitotic cell cycle	IBA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IBA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	16943770
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060065	Process	Uterus development	IEA
GO:0060669	Process	Embryonic placenta morphogenesis	IEA
GO:0071514	Process	Genomic imprinting	IEA
GO:0140678	Function	Molecular function inhibitor activity	IMP	11746698
GO:1902746	Process	Regulation of lens fiber cell differentiation	IEA
GO:1904030	Process	Negative regulation of cyclin-dependent protein kinase activity	IMP	11746698

Other IDs

• MIM: 600856
• HGNC: 1786
• e!Ensembl: ENSG00000129757

Protein

• UniProt ID: P49918
• Protein name: Cyclin-dependent kinase inhibitor 1C (Cyclin-dependent kinase inhibitor p57) (p57Kip2)
• Protein function: Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02234	CDI	32 → 82	Cyclin-dependent kinase inhibitor	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed in the eye. High levels are seen in the placenta while low levels are seen in the liver. {ECO:0000269|PubMed:22634751}.
• Sequence:

  MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNR
  WDYDFQQDMPLRGPGRLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLE
  PAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAAPVAVAVLAP
  APAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
  QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSA
  APGVGSVEQTPRKRLR

• Sequence length: 316

Pathways

KEGG:

Cell cycle

Reactome:

Cyclin D associated events in G1

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
Beckwith-Wiedemann syndrome	Pathogenic; Likely pathogenic	rs2133782104, rs2133784715, rs1220263188, rs1379762772, rs2133785734, rs2133786225, rs759365577, rs2133785723, rs2133785682, rs483352970, rs786205235, rs786205236, rs483352988, rs483352991, rs483352993, rs483352997, rs2133784748, rs2133785530, rs2133784672, rs2133780268, rs2133785693, rs1848974871, rs2133786067, rs2133782023, rs2133783249, rs2133785873, rs2133786397, rs587777866, rs2494379988, rs2494380150, rs2494390803, rs786205240, rs1554937847, rs786205237, rs786205239, rs786205241, rs786205234, rs318240750, rs2494389957, rs2494384555, rs2494385326, rs797045445, rs483352971, rs2494384859, rs2494388585, rs2494379970, rs1848977184, rs2494390854, rs897964106, rs2494383846, rs2494386964, rs2494380217, rs137852766, rs2133780364, rs387906399, rs104894200, rs2494388249, rs2494388964, rs2494387330, rs2494385885, rs2494380322, rs2133785467, rs2494390913, rs2494389055, rs2494386494, rs2494384538, rs2494383793, rs2494380076, rs2494389952, rs2494389104, rs2494391145, rs267606716, rs387907225, rs1554938194, rs1554937726, rs1554938087, rs1554938197, rs1564929426, rs1564929520, rs1564929584, rs1590150660, rs1848914894, rs1848915004, rs1848930692, rs1848940003, rs1564930265, rs1848966851, rs1848977725, rs1848931980, rs1564930723, rs1848978708, rs1848953740, rs1848965153, rs1848979151, rs1848926281, rs1848960369, rs2133780371	RCV001390492 RCV001383643 RCV001383932 RCV001385216 RCV001382544 RCV001388344 RCV001920474 RCV001872672 RCV001907919 RCV003502515 RCV000172989 RCV000172990 RCV001218456 RCV002514595 RCV003502516 RCV001237418 RCV001940254 RCV001935054 RCV001950913 RCV001881894 RCV001903089 RCV001939641 RCV001941904 RCV001883130 RCV001906376 RCV001950762 RCV001883609 RCV000172924 RCV002287284 RCV003062319 RCV003085852 RCV000172987 RCV000172983 RCV000172986 RCV000172985 RCV000172984 RCV000172982 RCV002516573 RCV002653279 RCV002862076 RCV002852622 RCV000192927 RCV002872063 RCV002872075 RCV002876879 RCV002848003 RCV002867481 RCV003016133 RCV003030956 RCV003055085 RCV003040068 RCV003040951 RCV003048557 RCV000009287 RCV000009288 RCV000009289 RCV000009290 RCV003502695 RCV003475637 RCV003475638 RCV003502791 RCV003504581 RCV003502379 RCV003504029 RCV003504074 RCV003611711 RCV003613184 RCV003613106 RCV003613475 RCV003613456 RCV003985243 RCV003986026 RCV000009291 RCV000009292 RCV001380060 RCV000539829 RCV000549523 RCV000628538 RCV000628545 RCV000695961 RCV000693066 RCV000685583 RCV000800850 RCV001054924 RCV001051378 RCV001051697 RCV001063087 RCV001054384 RCV001067897 RCV001059990 RCV001215914 RCV001219770 RCV001231053 RCV001242553 RCV001242623 RCV001241760 RCV001256185 RCV001257502 RCV001353196	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CDKN1C-related disorder	Pathogenic; Likely pathogenic	rs797045445, rs2494380120	RCV003401049 RCV003391324	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IMAGe syndrome	Pathogenic; Likely pathogenic	rs483352989, rs2133784748, rs318240750, rs387907223, rs387907224, rs387907225, rs387907226, rs2133780371, rs1848883206, rs1554937698	RCV004815189 RCV005253937 RCV004816250 RCV004814925 RCV004814926 RCV004814927 RCV004814928 RCV004814929 RCV001353196 RCV004814045 RCV004815274	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic short statue	Likely pathogenic	rs1848883206	RCV005865475	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Silver-Russell syndrome 1	Pathogenic	rs318240750	RCV000172991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATYPICAL ENDOMETRIAL HYPERPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beckwith-Wiedemann syndrome due to CDKN1C mutation	Benign; Likely benign	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
COMPLEX ENDOMETRIAL HYPERPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Differences in sex development	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL HYPERPLASIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAUTERINE GROWTH RESTRICTION, SHORT STATURE, EARLY ADULT-ONSET DIABETES SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRAUTERINE GROWTH RESTRICTION-SHORT STATURE-EARLY ADULT-ONSET DIABETES SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHABDOMYOSARCOMA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUSSELL-SILVER SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SILVER-RUSSELL SYNDROME	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SILVER-RUSSELL SYNDROME DUE TO A POINT MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aarskog syndrome	Aarskog Syndrome	BEFREE	24313804		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	11380396, 12586619, 15978938, 16315255, 19109226, 20826236, 29793312		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	15936816		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	31610036		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	CTD_human_DG	21552421		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31109257		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Basal Cell	Adenocarcinoma	CTD_human_DG	21552421		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	CTD_human_DG	21552421		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	CTD_human_DG	21552421		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12542400, 14612924		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	11454518, 9177379		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	11454518		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	18786438	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	27372391, 9177379		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12586619, 15851765, 16315255, 29793312		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	12239171, 19616848		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	30946360		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	27345568		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17351341		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	21622733		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10980131, 30941985	Inhibit	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15367334	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17351341		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	17351341		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	17351341	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22064387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	22771791	Associate	★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	10220444, 10323243, 10424811, 10424812, 10601037, 10779549, 10862080, 10958646, 11063728, 11182628, 11414765, 11468278, 12138139, 12949703, 14627666, 14645199, 15150778, 15234339, 15372379, 15551363, 15590939, 15821902, 15888726, 15900410, 15999116, 16061564, 1609846, 16575194, 17900986, 19201275, 19300480, 19386358, 19843502, 19934273, 20007505, 20503313, 20826236, 21248736, 21816904, 21863054, 22205991, 22634751, 23197429, 23240093, 23892181, 24065356, 24154661, 24842698, 25057881, 25195859, 25216674, 25262539, 26077438, 26857110, 26933465, 26963625, 27015986, 27345568, 27372391, 27572060, 29047350, 30352048, 8640801, 8776593, 8841187, 8889507, 8923002, 8971182, 9311733, 9311734, 9341892, 9363677, 9630066		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	UNIPROT_DG	10424811, 26077438		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	GENOMICS_ENGLAND_DG	10424811, 10424812, 20503313, 22634751, 9341892		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	LHGDN	15888726, 16061564, 16575194		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	CTD_human_DG	22634751		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	CLINVAR_DG	9341892		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Beckwith-Wiedemann syndrome due to CDKN1C mutation	Beckwith-Wiedemann Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Benign Neoplasm	Benign Neoplasm	BEFREE	10634406		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10944603, 15551363		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	9825572		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10071197, 15492797, 18325103, 19340297, 21304052, 23873832, 28106536, 29428729, 29928386		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18325103, 23244105, 23873832, 28106536, 34464504	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19340297, 21304052	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	20152033	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15754413, 34299047	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11454518, 14612924, 8655143		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10779553	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15754413, 24663086, 26271467, 30544064, 35321452, 37212524	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10944603, 15551363		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21360479, 8649840		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	22233925	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30941985, 34716619	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23580324, 37257769	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Cribriform	Carcinoma	CTD_human_DG	21552421		★☆☆☆☆ Found in Text Mining only
Carcinoma, Granular Cell	Carcinoma	CTD_human_DG	21552421		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21205084, 22233925		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	BEFREE	20877918		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16315255, 29793312		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	31406254		★☆☆☆☆ Found in Text Mining only
Chorioangioma	Chorioangioma	BEFREE	15900410		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15279631, 15664414, 21599798		★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	27221896, 28974845, 31567274, 32653131	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	21622733		★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	24824133	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26463716		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11408920, 16965397, 21278784, 27302926, 28933484, 29734178		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21278784, 32141544, 32592383, 32711442, 35627268, 36708218	Associate	★☆☆☆☆ Found in Text Mining only
Complete hydatidiform mole	Complete Hydatidiform Mole	BEFREE	11688455, 12471053, 14511255, 15279631, 15754295, 16949913, 19542869, 20093228, 21293291, 21767919, 22197173, 22245958, 22992698, 23125094, 23370656, 23887308, 26161420, 26535984, 28463912, 28574027, 28800576, 30394942, 30952972		★☆☆☆☆ Found in Text Mining only
Complex Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22064387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Abnormalities	Congenital abnormalities	Pubtator	11106355	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17700627		★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	BEFREE	10424811, 15999116, 24335096		★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	BEFREE	26933465		★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	26572961		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	26572961	Associate	★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	BEFREE	10424811, 15999116, 17259293, 24335096, 29047350		★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	9177379		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30941985		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	29471356		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27523184, 30810878		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33443097	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11723059, 25057881, 28508599		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	31194812	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32404958, 34580843	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11723059, 25057881, 28508599		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23139357, 25057881, 37700362	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	29207083	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37700362	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15821902, 29207083		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Transient Neonatal, 1	Diabetes Mellitus	BEFREE	18197189		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	26376129	Associate	★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	20877918, 30089313		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	12239171, 19239430, 19616848		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	22992698	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	24842698		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	30380201		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	28574027, 38291567	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	8842727		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	22064387		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22064387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	22064387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	22233925		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	15007390		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	15007390		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	15007390		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	17595796		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	17595796	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	22701369	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease Perinatal Lethal	Gaucher disease	Pubtator	34065128	Associate	★☆☆☆☆ Found in Text Mining only
Gestational trophoblastic disease	Hydatidiform mole	BEFREE	26846439, 9520940		★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Disease	Gestational trophoblastic disease	Pubtator	34074808	Associate	★☆☆☆☆ Found in Text Mining only
Gestational Trophoblastic Neoplasms	Gestational Trophoblastic Neoplasms	BEFREE	15279631, 9520940		★☆☆☆☆ Found in Text Mining only
Gilbert Disease	Gilbert syndrome	Pubtator	17259293	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15332324		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	15332324		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15494095	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15332324		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15332324, 25960208		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	15208647, 25026939	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	14694160		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	10916090	Inhibit	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	15100731	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	21622733		★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	22771791	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25057881, 27313795, 27611768	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	7813108	Associate	★☆☆☆☆ Found in Text Mining only
HELLP Syndrome	HELLP Syndrome	BEFREE	19386358		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	15900410		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	15477587	Associate	★☆☆☆☆ Found in Text Mining only
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	BEFREE	20503313, 26933465		★☆☆☆☆ Found in Text Mining only
HEMIHYPERPLASIA, ISOLATED	Hemihyperplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	11021841, 27372391, 27419809		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	11021841	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	18325103	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	27469492		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	11688455, 14511255, 15754295, 16949913, 19542869, 21293291, 21767919, 22123726, 22197173, 23125094, 23370656, 23722513, 23887308, 24613849, 25097207, 25851707, 26846439, 28135560, 31567274		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	15314611, 22992698, 23887308, 26846439, 27221896, 27716354, 28574027, 28974845, 31567274, 31833013, 32653131, 33024305, 34057923, 34074808, 34958055, 38291567	Associate	★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole, Partial	Hydatidiform Mole	BEFREE	11688455, 14511255, 15754295, 19542869, 19815697, 21293291, 21767919, 21881485, 22123726, 22245958, 22992698, 23370656, 28574027, 30394942		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	11688455, 14511255, 16949913, 19542869, 21767919, 22123726, 22197173, 25097207, 25851707, 26846439, 31567274		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	21844226		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	15821902		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11723059, 16357843, 18796520		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita II	Ichthyosis Congenita	BEFREE	20082469		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	14694160		★☆☆☆☆ Found in Text Mining only
IMAGe syndrome	IMAGe Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immune System Diseases	Immune system disease	Pubtator	30503519	Associate	★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	15900410		★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	12606521, 26756113, 27085780		★☆☆☆☆ Found in Text Mining only
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	Intrauterine Growth Restriction-Short Stature- Diabetes Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	GENOMICS_ENGLAND_DG	10424811, 10424812, 22634751, 9341892		★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	BEFREE	22634751, 24065356, 24098681, 24313804, 25057881, 25262539, 26963625, 28508599, 30503519, 31610036		★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	UNIPROT_DG	22634751		★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	ORPHANET_DG	22634751		★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	CLINVAR_DG	22634751, 24098681, 25057881, 25614875		★☆☆☆☆ Found in Text Mining only
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	10916090, 15208647	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12138139		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	16618659		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16184585, 16936778, 27531147		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	16184585, 26985855, 30792202	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	16936778		★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	30503519	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16315255, 35627268	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15936816, 16315255		★☆☆☆☆ Found in Text Mining only
Leukoplakia	Leukoplakia	BEFREE	16618659		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	29684791		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10779553, 18521080, 19533683, 19671867, 22002319, 22705236, 23754492, 23842948, 26271467, 26397132, 30178471, 30544064, 9472096		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	12878869, 21360479	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	20512841, 21552421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	31109257	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	7813108	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	7813108		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	21360479		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21360479	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	12239171	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	29661169		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	12239171	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	17026765		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	23171462		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	BEFREE	20503313		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	30946360	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	15332324		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10071197, 15492797, 18325103, 19340297, 21304052, 23873832, 28106536, 29428729, 29928386		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	15007390		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	17595796		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	20512841, 21552421		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21360479, 8649840		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21205084		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	11965547		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25216674		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10926119, 21553350		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10944603, 15551363		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10197590, 10220444, 10634406, 11408920, 12239171, 12586619, 16575194, 17196232, 18325103, 19340297, 19734939, 19934273, 20618998, 21360479, 21553350, 21769918, 21816904, 25695279, 25898929, 27611768, 28423699, 8776593, 9121769, 9441738		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26463716		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18325103		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19340297, 23421998		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	17145863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	29131275		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	29131275	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	27523184, 30810878		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	22150955, 23240093		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	15492797		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	15492797		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	33443097	Associate	★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	15936816, 22889515		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	14511255, 20484977, 28826362		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16357845		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	LHGDN	16357845		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23828667		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	12732930		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	12239171, 15936816, 22889515, 27170453		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	22889515	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	26985855		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17351341		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	17351341		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	17351341	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21769918		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10634406, 10935489, 10944603, 10955800, 11021841, 11408920, 11454518, 11688455, 12040438, 12239171, 14612924, 15007390, 15279631, 15492797, 15551363, 15888726, 15936816, 15999116, 16000561, 16357845, 16618659, 16908595, 16936778, 18325103, 18786438, 19221586, 19340297, 19734939, 20461750, 20565244, 20975375, 21170264, 21769918, 22002319, 22705236, 22889515, 23421998, 23447020, 23512659, 23842948, 23984860, 25195859, 25216674, 25273528, 25611573, 26271467, 26756113, 26884185, 27015986, 27372391, 27402879, 27419809, 29428729, 30544064, 30686519, 30941985, 8610162, 8640800, 8640801, 8649840, 8655143, 8776593, 8842727, 8889507, 8971182, 9121769, 9177379, 9311733, 9694575		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10424811, 10749116, 16842655, 8640800, 8889507, 8971182, 9121769, 9311733		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	GENOMICS_ENGLAND_DG	10424812		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	31961825	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	11423975, 16705184, 27372391, 27419809		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16988944, 26497851, 26840018, 27166267		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29295723	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30119259		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	17885492		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21205084		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	12532471, 16124066		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12532471, 16124066	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31708464		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	27402879		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	18721488, 25588980		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	BEFREE	25898929		★☆☆☆☆ Found in Text Mining only
Port-Wine Stain	Phakomatosis pigmentovascularis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15978938		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25216674		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15899813, 24513574	Associate	★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	BEFREE	24313804		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30941985		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	16705184, 19201275, 20565244, 30509085		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	19221586		★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	20212451	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10935489		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	34095712, 34325314	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	34325314	Inhibit	★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	GENOMICS_ENGLAND_DG	10424812		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	15234339, 20007505, 20082469, 21863054, 21910219, 22150955, 22205991, 23240093, 24065356, 25262539, 25427884, 26963625, 8879984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	8640801		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	18271016	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18322470		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18322470		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	27170453		★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	BEFREE	20877918		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	23197429		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30052667		★☆☆☆☆ Found in Text Mining only
Silver-Russell syndrome due to a point mutation	Silver-Russell Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simple Endometrial Hyperplasia	Endometrial Hyperplasia	CTD_human_DG	22064387		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	Simpson-Golabi-Behmel Syndrome	BEFREE	9630066		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31367252		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPLIT-HAND/FOOT MALFORMATION 4	Split-Hand-Foot Malformation	BEFREE	16258268		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18483314		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10928132		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10955800		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10926119, 21553350		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	21553350, 32292506	Associate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	15900410		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	15551363		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	27313795	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31591432	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	11891530		★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	15888726		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30060056		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30060056	Associate	★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	10634406		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	11891530		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	20503313, 23197429, 26077438		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	10944603	Inhibit	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34650035	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	33076988	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	22083728, 27572060		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	16909133	Associate	★☆☆☆☆ Found in Text Mining only
WILMS TUMOR 2	Wilms Tumor	BEFREE	8889507, 9311733		★☆☆☆☆ Found in Text Mining only