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	9968
Gene name	Mediator complex subunit 12
Gene symbol	MED12
Synonyms (NCBI Gene)	ARC240CAGH45FGS1HDKRHOPAKtoMED12SOHDOXOKSOPA1TNRC11TRAP230
Chromosome	X
Chromosome location	Xq13.1
Summary	The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subco

Show/Hide all (51)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338758	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs80338759	A>G	Pathogenic	Coding sequence variant, missense variant
rs138984044	T>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs187377817	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs192656109	C>T	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs202009066	A>G	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs202120461	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202125318	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs369083173	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs372344160	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376058351	A>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387907360	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387907361	T>C	Pathogenic	Missense variant, coding sequence variant
rs387907362	C>A	Pathogenic	Missense variant, coding sequence variant
rs397515554	G>A	Pathogenic	Missense variant, coding sequence variant
rs398124197	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs531754497	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587780391	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs727503868	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs757160341	CAG>-,CAGCAG,CAGCAGCAG	Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs759857680	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs762905361	G>A	Pathogenic	Coding sequence variant, missense variant
rs765417606	A>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794727576	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794727673	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs797045698	C>A,T	Likely-benign, likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs863223696	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs867655376	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs879255526	A>G	Pathogenic	Missense variant, coding sequence variant
rs879255527	->C	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs879255528	G>T	Uncertain-significance, benign, pathogenic	Missense variant, coding sequence variant
rs886041581	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057518921	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519381	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519912	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521988	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307941	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691350	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1255849432	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1266845318	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1556334114	G>A	Pathogenic	Stop gained, coding sequence variant
rs1556334780	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556334793	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556334969	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556337085	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556338764	->GGCG	Pathogenic	Frameshift variant, coding sequence variant
rs1556340124	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1569481124	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569482153	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1569482431	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602299778	G>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051310	hsa-miR-16-5p	CLASH	23622248
MIRT050915	hsa-miR-17-5p	CLASH	23622248
MIRT049860	hsa-miR-31-5p	CLASH	23622248
MIRT048665	hsa-miR-99a-5p	CLASH	23622248
MIRT048529	hsa-miR-100-5p	CLASH	23622248
MIRT048529	hsa-miR-100-5p	CLASH	23622248
MIRT048228	hsa-miR-196a-5p	CLASH	23622248
MIRT047700	hsa-miR-10a-5p	CLASH	23622248
MIRT044626	hsa-miR-320a	CLASH	23622248
MIRT039241	hsa-miR-454-3p	CLASH	23622248

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003712	Function	Transcription coregulator activity	IDA	10198638
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	12037571, 12218053
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	NAS	10235266
GO:0003713	Function	Transcription coactivator activity	TAS	10198638
GO:0005515	Function	Protein binding	IPI	11984006, 17000779, 21293490, 23178117, 25281560, 26496610, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	10235267, 17000779
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007507	Process	Heart development	IEA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016592	Component	Mediator complex	IBA
GO:0016592	Component	Mediator complex	IDA	10198638, 12037571
GO:0016592	Component	Mediator complex	IEA
GO:0021510	Process	Spinal cord development	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0042809	Function	Nuclear vitamin D receptor binding	NAS	10235266
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10198638
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12037571
GO:0046966	Function	Nuclear thyroid hormone receptor binding	IDA	10198638
GO:0048568	Process	Embryonic organ development	IEA
GO:0048702	Process	Embryonic neurocranium morphogenesis	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IDA	12218053
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0090245	Process	Axis elongation involved in somitogenesis	IEA
GO:1990403	Process	Embryonic brain development	IEA
GO:1990508	Component	CKM complex	IPI	19047373
GO:1990508	Component	CKM complex	ISS

MIM	HGNC	e!Ensembl
300188	11957	ENSG00000184634

Q93074

Protein name

Mediator of RNA polymerase II transcription subunit 12 (Activator-recruited cofactor 240 kDa component) (ARC240) (CAG repeat protein 45) (Mediator complex subunit 12) (OPA-containing protein) (Thyroid hormone receptor-associated protein complex 230 kDa co

Protein function

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RN

PDB

8TQ2 , 8TQC , 8TQW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09497	Med12	105 → 161	Transcription mediator complex subunit Med12	Domain
PF12145	Med12-LCEWAV	286 → 757	Eukaryotic Mediator 12 subunit domain	Domain
PF12144	Med12-PQL	1819 → 2022	Eukaryotic Mediator 12 catenin-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10198638}.

Sequence

MAAFGILSYEHRPLKRPRLGPPDVYPQDPKQKEDELTALNVKQGFNNQPAVSGDEHGSAK
NVSFNPAKISSNFSSIIAEKLRCNTLPDTGRRKPQVNQKDNFWLVTARSQSAINTWFTDL
AGTKPLTQLAKKVPIFSKKEEVFGYLAKYTVPVMRAAWLIKMTCAYYAAISETKVKKRHV
DPFMEWTQIITKYLWEQLQKMAEYYRPGPAGSGGCGSTIGPLPHDVEVAIRQWDYTEKLA
MFMFQDGMLDRHEFLTWVLECFEKIRPGEDELLKLLLPLLLRYSGEFVQSAYLSRRLAYF
CTRRLALQLDGVSSHSSHVISAQSTSTLPTTPAPQPPTSSTPSTPFSDLLMCPQHRPLVF
GLSCILQTILLCCPSALVWHYSLTDSRIKTGSPLDHLPIAPSNLPMPEGNSAFTQQVRAK
LREIEQQIKERGQAVEVRWSFDKCQEATAGFTIGRVLHTLEVLDSHSFERSDFSNSLDSL
CNRIFGLGPSKDGHEISSDDDAVVSLLCEWAVSCKRSGRHRAMVVAKLLEKRQAEIEAER
CGESEAADEKGSIASGSLSAPSAPIFQDVLLQFLDTQAPMLTDPRSESERVEFFNLVLLF
CELIRHDVFSHNMYTCTLISRGDLAFGAPGPRPPSPFDDPADDPEHKEAEGSSSSKLEDP
GLSESMDIDPSSSVLFEDMEKPDFSLFSPTMPCEGKGSPSPEKPDVEKEVKPPPKEKIEG
TLGVLYDQPRHVQYATHFPIPQEESCSHECNQRLVVLFGVGKQRDDARHAIKKITKDILK
VLNRKGTAETDQLAPIVPLNPGDLTFLGGEDGQKRRRNRPEAFPTAEDIFAKFQHLSHYD
QHQVTAQVSRNVLEQITSFALGMSYHLPLVQHVQFIFDLMEYSLSISGLIDFAIQLLNEL
SVVEAELLLKSSDLVGSYTTSLCLCIVAVLRHYHACLILNQDQMAQVFEGLCGVVKHGMN
RSDGSSAERCILAYLYDLYTSCSHLKNKFGELFSDFCSKVKNTIYCNVEPSESNMRWAPE
FMIDTLENPAAHTFTYTGLGKSLSENPANRYSFVCNALMHVCVGHHDPDRVNDIAILCAE
LTGYCKSLSAEWLGVLKALCCSSNNGTCGFNDLLCNVDVSDLSFHDSLATFVAILIARQC
LLLEDLIRCAAIPSLLNAACSEQDSEPGARLTCRILLHLFKTPQLNPCQSDGNKPTVGIR
SSCDRHLLAASQNRIVDGAVFAVLKAVFVLGDAELKGSGFTVTGGTEELPEEEGGGGSGG
RRQGGRNISVETASLDVYAKYVLRSICQQEWVGERCLKSLCEDSNDLQDPVLSSAQAQRL
MQLICYPHRLLDNEDGENPQRQRIKRILQNLDQWTMRQSSLELQLMIKQTPNNEMNSLLE
NIAKATIEVFQQSAETGSSSGSTASNMPSSSKTKPVLSSLERSGVWLVAPLIAKLPTSVQ
GHVLKAAGEELEKGQHLGSSSRKERDRQKQKSMSLLSQQPFLSLVLTCLKGQDEQREGLL
TSLYSQVHQIVNNWRDDQYLDDCKPKQLMHEALKLRLNLVGGMFDTVQRSTQQTTEWAML
LLEIIISGTVDMQSNNELFTTVLDMLSVLINGTLAADMSSISQGSMEENKRAYMNLAKKL
QKELGERQSDSLEKVRQLLPLPKQTRDVITCEPQGSLIDTKGNKIAGFDSIFKKEGLQVS
TKQKISPWDLFEGLKPSAPLSWGWFGTVRVDRRVARGEEQQRLLLYHTHLRPRPRAYYLE
PLPLPPEDEEPPAPTLLEPEKKAPEPPKTDKPGAAPPSTEERKKKSTKGKKRSQPATKTE
DYGMGPGRSGPYGVTVPPDLLHHPNPGSITHLNYRQGSIGLYTQNQPLPAGGPRVDPYRP
VRLPMQKLPTRPTYPGVLPTTMTGVMGLEPSSYKTSVYRQQQPAVPQGQRLRQQLQQSQG
MLGQSSVHQMTPSSSYGLQTSQGYTPYVSHVGLQQHTGPAGTMVPPSYSSQPYQSTHPST
NPTLVDPTRHLQQRPSGYVHQQAPTYGHGLTSTQRFSHQTLQQTPMISTMTPMSAQGVQA
GVRSTAILPEQQQQQQQQQQQQQQQQQQQQQQQQQQYHIRQQQQQQILRQQQQQQQQQQQ
QQQQQQQQQQQQQQQHQQQQQQQAAPPQPQPQSQPQFQRQGLQQTQQQQQTAALVRQLQQ
QLSNTQPQPSTNIFGRY

Sequence length

2177

Interactions

View interactions

	KEGG		Reactome
	Thyroid hormone signaling pathway		PPARA activates gene expression Generic Transcription Pathway Transcriptional regulation of white adipocyte differentiation

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 (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Blepharophimosis - intellectual disability syndrome, MKB type	Likely pathogenic; Pathogenic	rs2147805923, rs2147796647, rs1057523906, rs2147844887, rs2147782173, rs80338758, rs727503868, rs1085307941, rs1556334969, rs1556334519, rs387907361, rs387907362, rs2092334822, rs2092347481	RCV002283551 RCV004770177 RCV002287504 RCV004770178 RCV002249101 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cholestasis-pigmentary retinopathy-cleft palate syndrome	Likely pathogenic; Pathogenic	rs1057523906, rs2147823333, rs2147826070, rs2147829167, rs2147839335, rs2147791994, rs2147842225, rs2519674075, rs2519702423, rs2519714036, rs2519675345, rs2519721034	RCV003152766 RCV001796996 RCV001796997 RCV001797847 RCV003333166 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Pathogenic; Likely pathogenic	rs2092313037, rs80338758, rs2519694918, rs2519691466, rs2519694809, rs1556337063, rs1569482431	RCV002355637 RCV004018614 RCV004309440 RCV004421726 RCV004421729 RCV004822132 RCV002352271 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome	Likely pathogenic; Pathogenic	rs2092347488, rs2147811858, rs2147827179, rs2147769775, rs2519675600, rs863223706, rs2519708972, rs80338758, rs80338759, rs2519691305, rs1556334969, rs1556334519, rs1556337063, rs1569481124, rs2092317530	RCV003763963 RCV003761408 RCV003772398 RCV003776762 RCV003763198 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome 1	Likely pathogenic; Pathogenic	rs2147805923, rs2147774632, rs2147783158, rs2147796647, rs1057523906, rs2147811858, rs2147823333, rs2147826070, rs2147829167, rs2147839335, rs2147844887, rs794727576, rs863223706, rs1057519381, rs2519721261 View all (14 more)	RCV001580313 RCV001580298 RCV001580300 RCV001580305 RCV001580311 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs80338758	RCV001261368	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MED12-related disorder	Likely pathogenic; Pathogenic	rs2092347488, rs1057523906, rs2147811858, rs2519682264, rs2519721261, rs80338758, rs2519702423, rs2092335044	RCV004527422 RCV003985512 RCV004738351 RCV003985558 RCV004527453 RCV005862708 RCV005228003 RCV001269297 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MED12-related intellectual disability syndrome	Pathogenic; Likely pathogenic	rs2147774632, rs1057523906, rs863223699, rs879255527	RCV002272482 RCV004594366 RCV001795561 RCV003225937	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2147816920	RCV002274420	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonspecific Intellectual Disability	Pathogenic; Likely pathogenic	rs2519702423, rs1057524217, rs1569482431	RCV004527456 RCV004527551 RCV004527397	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked intellectual disability with marfanoid habitus	Likely pathogenic; Pathogenic	rs2092347488, rs2092303356, rs863223706, rs80338758, rs80338759	RCV001330019 RCV002468747 RCV002255134 RCV000763632 RCV000012277	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (47)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angiosarcoma	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANUS, IMPERFORATE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS SYNDROME OHDO TYPE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1Y	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated cardiomyopathy 1Y	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME CLASSIC TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, classic type	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal rhabdomyosarcoma	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma non-WNT/non-SHH	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma non-WNT/non-SHH group 3	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephroblastoma	other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simpson-Golabi-Behmel syndrome type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine leiomyoma	not provided; other	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms tumor 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked MED12-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (462)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10738116, 17032312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	27438523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	CTD_human_DG	24747642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	17369503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	26891131, 29660202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21293490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23713734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Angiofibroma	Angiofibroma	BEFREE	28002623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus Neoplasms	Anus Neoplasms	BEFREE	21999991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anus, Imperforate	Imperforate anus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety disorder	Pubtator	18973276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	18158317, 31673222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27203213	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	35418189	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	BEFREE	30036562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	12488262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy/Degeneration affecting the brainstem	Brainstem Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory Neuropathy	BEFREE	20385391, 25564500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory neuropathy	Pubtator	25564500, 31673222, 38456936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy spectrum disorder	Auditory neuropathy	BEFREE	20385391, 25564500, 26905822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	18973276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23333625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11039861, 11840515, 31098807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	33244165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant optic atrophy plus syndrome	Optic Atrophy Plus Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant optic atrophy plus syndrome	Optic Atrophy Plus Syndrome	BEFREE	19389487, 26194196, 31152339		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant optic atrophy, classic form	Optic Atrophy	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Barth Syndrome	Barth syndrome	Pubtator	35676289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behr syndrome	Abortive cerebellar ataxia	UNIPROT_DG	21636302, 25012220, 25146916		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behr syndrome	Abortive cerebellar ataxia	BEFREE	27150940, 27879217, 28442211, 30972688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behr syndrome	Abortive cerebellar ataxia	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Behr syndrome	Abortive cerebellar ataxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Behr syndrome	Abortive cerebellar ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28463235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis syndrome Ohdo type	Blepharophimosis-Mental Retardation Syndrome	BEFREE	23395478, 24039113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis syndrome Ohdo type	Blepharophimosis syndrome	Pubtator	23395478, 33244166, 34573309, 36271811, 38492468, 39986018	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis syndrome Ohdo type	Blepharophimosis-Mental Retardation Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharophimosis-intellectual disability syndrome, MKB type	Blepharophimosis-Mental Retardation Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	14970223, 36075118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness, Legal	Blindness	BEFREE	11017079, 11810270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25038752, 26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26452386, 30230586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	34261476	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25839987, 25855048, 25865354, 27806318, 28771672, 29440396, 34261476, 38380720, 40565184	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CAPOS syndrome	CAPOS Syndrome	ORPHANET_DG	18158317, 22776096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28054945, 29666002, 30647905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	21999991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33915505, 35069777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27050271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24504440	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19607727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29735544, 31547300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	38129817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	26561570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30046376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30939629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	18496845, 27150940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30839502, 30939629, 30972688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25595892, 28771672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic progressive external ophthalmoplegia	Progressive External Ophthalmoplegia	BEFREE	18195150, 25820230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	35385219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	19938245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29773813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22532225, 29507187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	20083290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Blindness, Blue	Color blindness	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Blindness, Red-Green	Color blindness	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10738116, 17032312, 23132392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23132392, 28183795, 29440396, 29507187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	23091001, 36894399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	28544239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	27150940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	22223266, 24446130, 26141720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	21349918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	23091001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28384228, 29490017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	32682435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Contracture of hamstring(s)	Contracture Of Hamstring	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27050271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy Fleck	Corneal dystrophy	Pubtator	36342087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	17320443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	17320443, 27731913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Vasospasm	Coronary Artery Vasospasm	BEFREE	30022529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	17320443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Costeff optic atrophy syndrome	Costeff optic atrophy syndrome	Pubtator	24970096, 31673222, 34006618	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	17369503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	20157015, 20484224	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	20484224		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	19733158, 21623591, 36075118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 1	Deafness	Pubtator	16648378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29529622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	25820230, 29466734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	25820230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	10898921, 12216017		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	10898921, 12216017		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	33244165, 36894399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32144130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29735636, 31307454, 31337982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	31840416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	34418601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	BEFREE	30429487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyschromatopsia	Dyschromatopsia	BEFREE	21670405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	10405444, 12566046, 14644237, 14961560, 16158427, 16700052, 17036352, 17103446, 17334363, 17369503, 20157015, 20507344, 20970104, 22857269, 23384603 View all (12 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	24123922, 27286923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	24039113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	27187686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31782039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	28002623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	36894399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36894399, 37995443	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29735544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18234960	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	BEFREE	15531309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases	Eye disease	Pubtator	29604226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Diseases, Hereditary	Eye Diseases	BEFREE	27468686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	33244165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome	FG Syndrome	BEFREE	11078572, 17334363, 17369503, 18691967, 18805826, 18973276, 19938245, 20507344, 20981778, 23836153, 24715367, 27286923		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome	FG Syndrome	GENOMICS_ENGLAND_DG	12784307, 18691967, 19938245, 6711603		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome	FG Syndrome	CLINVAR_DG	17334363, 19938245, 20981778		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome	FG Syndrome	CTD_human_DG	17334363		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome	FG Syndrome	UNIPROT_DG	17334363		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG syndrome	FG Syndrome	ORPHANET_DG	17334363		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FG SYNDROME 2	FG Syndrome	CTD_human_DG	17334363		★★★★★ ★☆☆☆☆ Found in Text Mining only
FG SYNDROME 4 (disorder)	FG syndrome	CTD_human_DG	17334363		★★★★★ ★☆☆☆☆ Found in Text Mining only
FG syndrome type 1	FG Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	25038752, 25106763, 25839987, 25855048, 25865354, 25931199, 26093648, 26109290, 26437033, 27056456, 27438523, 27806318, 28513873, 28688536, 29315289, 30230586, 30851086, 31411343 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	CTD_human_DG	25038752, 26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	27713419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	22182697, 22223266, 22428002, 22768200, 23222489, 23225304, 23347103, 23443020, 23517922, 23557758, 23913526, 24196187, 24390224, 24986214, 25015674 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	BEFREE	27806318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31021038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	31098807		★★★★★ ★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	12933917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	LHGDN	11810296, 12073024, 15534475, 17188046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	12073024, 17188046, 18079692, 19581274, 19643970, 22428042, 23869166, 28875349, 30721926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19581274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	16785854, 21552501	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	LHGDN	12073024, 16785854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	BEFREE	20357201, 30721926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	12073024, 16205626, 16785854, 18079692, 19347049, 21552501, 22428042, 22879959, 23869166, 27198638, 29392307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22952576, 36838582	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	35091793	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	30403311, 9234071		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30403311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	33244165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	16648378, 25564500, 27860320, 29952689, 34573359, 36075118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	18158317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	BEFREE	17188070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32682435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28384228, 29490017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	30290401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	12933917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25855048, 25865354, 26832993, 27806318, 30467240, 30647905, 33046803, 33376197	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Leiomyomatosis and Renal Cell Cancer	Hereditary Leiomyomatosis and Renal Cancer	BEFREE	27187686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	GENOMICS_ENGLAND_DG	24715367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	21257639	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	27889468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28808422		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	34418601	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	18973276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21796221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26561570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26561570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	10898921, 11424983, 12216017, 14582143, 20218787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29357502, 34080026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	24039113		★★★★★ ★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	31337982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10982179, 12860370, 23091001, 24039113, 24123922, 25527630, 26338144, 27286923, 28369444, 28544239, 30006928, 30729724, 31098807		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	17369503, 23091001, 25649377, 30729724, 31906484, 33244165, 33244166, 36271811, 36894399	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30429487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	18158317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10895970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	BEFREE	17320443		★★★★★ ★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	24986214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22182697, 22428002, 22768200, 23222489, 23443020, 24390224, 24986214, 25325994, 26787895, 26820714, 27363490, 27967206, 28432313, 28592321, 29333096 View all (27 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	22768200, 23132392, 23222489, 23225304, 23347103, 23517922, 24196187, 24390224, 25272295, 26037152, 27363490, 27389556, 27889101, 28592321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	23132392, 23222489, 24390224, 24986214, 25865354, 26891131, 27363490, 27889101, 28592321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	BEFREE	23132392, 29077232, 29660202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	36739349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30737482	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30737482		★★★★★ ★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	24986214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19819065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	11810296, 12441838, 12543739, 14551537, 15534475, 16785854, 16885925, 18079692, 19754948, 22428042, 22879959, 23869166, 27916714, 29392307, 30721926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan Fryns syndrome	Lujan-Fryns Syndrome	GENOMICS_ENGLAND_DG	12784307, 19938245, 23506379, 6711603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan Fryns syndrome	Lujan-Fryns Syndrome	BEFREE	17369503, 18691967, 23836153, 27286923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan Fryns syndrome	Lujan-Fryns Syndrome	UNIPROT_DG	17369503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan Fryns syndrome	Lujan-Fryns Syndrome	ORPHANET_DG	17369503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan Fryns syndrome	Lujan-Fryns Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan Fryns syndrome	Lujan-Fryns Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lujan-Fryns syndrome	Lujan-Fryns Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27050271, 36573240, 36806050, 36809297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	12216017		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	12216017		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27479909		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Cystosarcoma Phyllodes	Cystosarcoma Phyllodes	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25038752, 26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26452386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27050271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31547300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	26350096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22610119, 23661306, 23836153, 26383637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	22610119, 29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	30400028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11155921, 14552656, 20856874, 21999991, 22768200, 25595892, 25839987, 26018969, 29735544, 30714136, 31072327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29507187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malrotation of colon	Malrotation of colon	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25038752, 26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25038752, 26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25839987, 25855048, 26109290		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25038752, 26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	40141318	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	10898921, 12216017		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	10898921, 12216017		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	12627458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10982179, 12860370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	10982179, 18691967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	18691967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	17003040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	27286923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	28343071, 28442295		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial cardiomyopathy	Mitochondrial Cardiomyopathy	BEFREE	17003040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	11855928, 19303950, 23250881, 28494813, 31782039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	14970223, 19664747, 20157015, 22800932, 25112877, 27495975, 28378518, 28494813, 28630277, 29081403, 29604226, 30395865, 31875567, 33251885, 33562813 View all (7 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23138851	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	CLINVAR_DG	28812649		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	UNIPROT_DG	26561570		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)	Cardiomyopathic Mitochondrial DNA Depletion Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	LHGDN	18158317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	26561570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	BEFREE	17003040, 18158317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathies	Mitochondrial myopathy	Pubtator	18158317, 30395865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	BEFREE	27286923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Morning glory anomaly	Morning glory anomaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	12566046, 14644237, 14961560, 16158427, 20157015, 22857269, 23384603, 23387428, 26385429, 26561570, 27150940, 27656661, 28841713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10405444, 16700052, 17036352, 17103446, 17334363, 17369503, 20507344, 20970104, 23395478, 24039113, 25644381, 26273451, 26338144, 8279489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	20157015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	18195150, 23387428, 25820230, 28378518	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30939629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	17003040		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	29632021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	30403311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19819065, 21868628, 22532225, 23178117, 23222489, 23517922, 23557758, 24446130, 25108465, 25272295, 25621995, 25855048, 25865354, 25931199, 25964426 View all (22 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	29369179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	20157015, 27860320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	20157015, 23387428, 29454676, 30972688, 30988455, 31500643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural crest tumor	Neural Crest Tumor	BEFREE	30859632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25820230, 28494813, 30252181, 30859632, 32600459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19389487, 19584314, 19664590, 20649534, 28379197, 28494813, 28746876, 29545505, 30252181, 30859632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	21828197		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	30068998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23972815, 31072327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	14582143, 17716226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	14582143		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	BEFREE	26448634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12216017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	30923134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ohdo syndrome, Maat-Kievit-Brunner type	Ohdo syndrome, X-linked	BEFREE	23395478, 24715367, 27286923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ohdo syndrome, Maat-Kievit-Brunner type	Ohdo syndrome, X-linked	UNIPROT_DG	23395478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ohdo syndrome, Maat-Kievit-Brunner type	Ohdo syndrome, X-linked	ORPHANET_DG	23395478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ohdo syndrome, Maat-Kievit-Brunner type	Ohdo syndrome, X-linked	GENOMICS_ENGLAND_DG	6711603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ohdo syndrome, Maat-Kievit-Brunner type	Ohdo syndrome, X-linked	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia Chronic Progressive External	Progressive external ophthalmoplegia	Pubtator	18158317, 18195150, 24086434, 25820230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophies, Hereditary	Hereditary optic atrophy	BEFREE	25205859, 28668999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	11306804, 12063046, 12566046, 12842213, 14566653, 14961560, 15531309, 15534598, 16158427, 16240368, 16513463, 16735988, 16737747, 17167772, 18158317 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	12543739, 12707284, 14552656, 14970223, 16648378, 16735988, 18158317, 19319978, 19325939, 19619285, 19772191, 20157015, 20417570, 21036400, 21378995 View all (33 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	LHGDN	12566046, 12842213, 15531309, 16021496, 16158427, 16240368, 16737747, 17318099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	11017079, 11017080, 11306804, 11313765, 11440988, 11440989, 11735024, 11810270, 11810296, 11855928, 12036970, 12063046, 12073024, 12441838, 12488262 View all (149 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	UNIPROT_DG	11017079, 11017080, 11440988, 11440989, 11810270, 12036970, 12566046, 14961560, 15948788, 16513463, 16617242, 18204809, 18360822, 19319978, 19325939 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	CLINVAR_DG	11440989, 23384603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	LHGDN	12036970, 12161614, 14644237, 15635063, 16331355, 17188070, 17306754, 17415700, 17579882, 17724190, 18065439, 18204809, 18222991, 18287570, 18488399, 18783614, 19112530, 19181907 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	CTD_human_DG	19900585, 23409176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	GENOMICS_ENGLAND_DG	27604308, 9917792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic atrophy 1 and deafness	Optic atrophy	Pubtator	29034899, 29340645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY 1 AND DEAFNESS	Optic Atrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 7	Optic atrophy	Pubtator	36075118	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	12036970, 12488262, 15948788, 16617242, 16648378, 18496845, 18783614, 19112530, 19319978, 19325939, 19581274, 19619285, 19900585, 20157369, 20417570 View all (61 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	19319978, 19619285, 21036400, 21552501, 28081242, 32855858, 34573359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	GENOMICS_ENGLAND_DG	11017079, 27604308, 9917792		★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	BEFREE	11735024, 11855928, 16006781, 17415700, 18222991, 19268652, 19302076, 20417568, 20417570, 20484224, 20801145, 21036400, 21349918, 21636302, 22776096 View all (14 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	UNIPROT_DG	15531309, 16240368, 18065439, 18158317, 18195150, 20185555, 21112924, 23387428		★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	CLINVAR_DG	21646330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	11440989, 14766317, 18496845, 19319978, 19619285, 19726426, 20069065, 20837821, 21203403, 21552501, 23500070, 26867657, 27696015, 28941528, 29694828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	15031162, 18360822, 19319978, 19900585, 20045077, 21457585, 24051421, 25820230, 26867657, 28081242, 31500643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28506300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18784066		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31547300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	26350096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Spastic	Paraparesis	Pubtator	21828197, 35534703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29466734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31875567, 36611869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Mitochondrial	Parkinson disease	Pubtator	29604226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	25820230, 29604226, 30252181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	25820230, 30252181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic Inflammatory Disease	Pelvic inflammatory disease	Pubtator	28432313	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	26168012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	21036400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	25847151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	25847151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phobic anxiety disorder	Phobic Anxiety Disorder	BEFREE	12216017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	25593300, 25839987, 25855048, 25865354, 25931199, 26018969, 26093648, 26109290, 26355235, 26383637, 26437033, 26832993, 26856273, 26860948, 27056456, 27806318, 28688536, 29315289 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	CTD_human_DG	26437033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Pierre-Robin Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	18158317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	27602765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25820230, 29466734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22610119, 23661306, 23836153, 26383637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	22610119, 29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22610119, 28067867, 34250416, 35347810, 37461056, 39253786, 40133664	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23661306		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	14582143, 17716226		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	14582143		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	38110986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24504440, 27050271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	32423767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	37315267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10898921, 11424983, 12627458, 12860370, 14582143, 15108174, 17299734, 20218787, 21397211, 21772061		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12860370, 14582143, 15108174, 17299734, 20218787, 21397211, 21772061		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16538184, 17299734, 19165527		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36894399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	BEFREE	21036400, 27150940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	15531309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	16158427, 16240368, 18158317, 21349918, 21538838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory hearing loss	Hearing Loss	BEFREE	25564500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	27312080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	30789526		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	29944972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35359935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	20436456, 22433900, 22800932, 23138851, 24176854, 25112877, 27495975, 27974645, 29604226, 30859632, 32092105, 32600459, 34014035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28055980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28055980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	36809297	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	22768200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	32600459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	BEFREE	30252181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	27879217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar ataxia 28	Spinocerebellar ataxia	Pubtator	32600459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19607727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Submucous cleft palate	Submucosal cleft palate	GENOMICS_ENGLAND_DG	12784307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporal pallor of optic disc	Temporal Pallor Of Optic Disc	BEFREE	21636302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporal pallor of optic disc	Temporal Pallor Of Optic Disc	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	BEFREE	27794214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	30400028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	10898921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	30400028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	28634282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	BEFREE	31255603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29807833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	29807833, 36813854	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	29636374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	12216017		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	12216017		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Abnormalities	Urogenital Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	25615570, 29440396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	21868628, 22182697, 22223266, 22428002, 22532225, 22768200, 23132392, 23222489, 23225304, 23347103, 23443020, 23517922, 23557758, 23836153, 23913526 View all (55 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	31673222	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	19772189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	21731710, 28720802, 32883255	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young Simpson syndrome	Simpson syndrome	Pubtator	23395478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MED12 (mediator complex subunit 12)