SHH (sonic hedgehog signaling molecule)

Gene

• Entrez ID: 6469
• Gene name: Sonic hedgehog signaling molecule
• Gene symbol: SHH
• Synonyms (NCBI Gene): HHG1, HLP3, HPE3, MCOPCB5, SMMCI, ShhNC, TPT, TPTPS
• Chromosome: 7
• Chromosome location: 7q36.3
• Summary: This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human protein

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28936675	C>T	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs104894040	A>C,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894042	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894043	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894044	G>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs104894045	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs104894046	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs104894047	C>T	Likely-benign, benign, pathogenic	Missense variant, intron variant, coding sequence variant
rs104894048	G>C,T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894049	T>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs104894050	T>A	Pathogenic	Missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs104894051	C>A,G	Pathogenic	Missense variant, intron variant, coding sequence variant, stop gained
rs104894052	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894053	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs112055654	C>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs146990376	G>A,C	Pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs191903572	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant
rs267607047	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs397515375	GCGGCGGTGAGCAGCAGGCGC>-	Pathogenic	Inframe deletion, coding sequence variant, intron variant
rs397515376	GCGCGAAGG>-	Pathogenic	Inframe deletion, coding sequence variant, intron variant
rs587778786	CCCGCGGTCCCCGCC>-	Pathogenic	Coding sequence variant, intron variant, inframe deletion
rs587778788	->CAGC	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs587778789	GACGAGGA>-	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs587778792	C>G	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs587778799	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587778803	G>A,C	Pathogenic	Coding sequence variant, intron variant, stop gained, missense variant
rs587778805	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs587778806	G>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs753315599	C>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, stop gained, missense variant
rs763132615	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant
rs769920627	->GCC	Likely-pathogenic	Coding sequence variant, inframe insertion, intron variant
rs779093031	G>A,T	Pathogenic	Upstream transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant, stop gained
rs886042458	G>A,C	Likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs1057518056	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057518660	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1085307689	C>A	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1131691966	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs1131691989	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1420292012	G>A,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1554493607	G>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554493633	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554493722	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554493810	GAGCCCGAGGACGCCTCGGGCTC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554495331	A>-	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1563198990	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1584800601	->TAGTG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584800607	GA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1584805934	A>G	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1584806077	TC>-	Pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017061	hsa-miR-335-5p	Microarray	18185580
MIRT683052	hsa-miR-6887-3p	HITS-CLIP	23706177
MIRT683051	hsa-miR-7108-3p	HITS-CLIP	23706177
MIRT683050	hsa-miR-1471	HITS-CLIP	23706177
MIRT683049	hsa-miR-1292-3p	HITS-CLIP	23706177
MIRT683048	hsa-miR-1913	HITS-CLIP	23706177
MIRT683047	hsa-miR-324-3p	HITS-CLIP	23706177
MIRT683046	hsa-miR-4313	HITS-CLIP	23706177
MIRT683045	hsa-miR-6882-3p	HITS-CLIP	23706177
MIRT570527	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT570526	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT570525	hsa-miR-595	PAR-CLIP	20371350
MIRT570524	hsa-miR-4781-3p	PAR-CLIP	20371350
MIRT570523	hsa-miR-567	PAR-CLIP	20371350
MIRT570522	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT570521	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT570520	hsa-miR-297	PAR-CLIP	20371350
MIRT570519	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT570518	hsa-miR-147a	PAR-CLIP	20371350
MIRT683052	hsa-miR-6887-3p	HITS-CLIP	23706177
MIRT683051	hsa-miR-7108-3p	HITS-CLIP	23706177
MIRT683050	hsa-miR-1471	HITS-CLIP	23706177
MIRT683049	hsa-miR-1292-3p	HITS-CLIP	23706177
MIRT683048	hsa-miR-1913	HITS-CLIP	23706177
MIRT683047	hsa-miR-324-3p	HITS-CLIP	23706177
MIRT683046	hsa-miR-4313	HITS-CLIP	23706177
MIRT683045	hsa-miR-6882-3p	HITS-CLIP	23706177
MIRT570527	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT570526	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT570525	hsa-miR-595	PAR-CLIP	20371350
MIRT570524	hsa-miR-4781-3p	PAR-CLIP	20371350
MIRT570523	hsa-miR-567	PAR-CLIP	20371350
MIRT570522	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT570521	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT570520	hsa-miR-297	PAR-CLIP	20371350
MIRT570519	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT570518	hsa-miR-147a	PAR-CLIP	20371350
MIRT2102692	hsa-miR-4707-5p	CLIP-seq
MIRT2102693	hsa-miR-4749-3p	CLIP-seq
MIRT2102693	hsa-miR-4749-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PAX3	Unknown	20569257
SOX9	Unknown	20569257
STAT3	Activation	22554932

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000139	Component	Golgi membrane	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	IEA
GO:0001569	Process	Branching involved in blood vessel morphogenesis	ISS
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS
GO:0001656	Process	Metanephros development	IEA
GO:0001656	Process	Metanephros development	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	ISS
GO:0001708	Process	Cell fate specification	IBA
GO:0001708	Process	Cell fate specification	IEA
GO:0001708	Process	Cell fate specification	ISS
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001755	Process	Neural crest cell migration	ISS
GO:0001822	Process	Kidney development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0001944	Process	Vasculature development	IEA
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0002076	Process	Osteoblast development	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IMP	14764698
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	IEA
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	ISS
GO:0003140	Process	Determination of left/right asymmetry in lateral mesoderm	NAS	17507406
GO:0004175	Function	Endopeptidase activity	TAS
GO:0005113	Function	Patched binding	IBA
GO:0005113	Function	Patched binding	IDA	8906787, 11472839
GO:0005113	Function	Patched binding	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	19561609
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19561609, 29954986, 29995851, 30139912
GO:0005539	Function	Glycosaminoglycan binding	IEA
GO:0005576	Component	Extracellular region	IDA	24342078
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	19561609
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	18534984
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	18534984
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	IDA	31279575
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007224	Process	Smoothened signaling pathway	IEP	17850284
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0007267	Process	Cell-cell signaling	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007389	Process	Pattern specification process	ISS
GO:0007398	Process	Ectoderm development	IEA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007405	Process	Neuroblast proliferation	ISS
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0007418	Process	Ventral midline development	TAS	8896572, 11001584
GO:0007442	Process	Hindgut morphogenesis	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0008209	Process	Androgen metabolic process	IEA
GO:0008209	Process	Androgen metabolic process	ISS
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	ISS
GO:0008270	Function	Zinc ion binding	IDA	19561609
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	11331587
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0009880	Process	Embryonic pattern specification	TAS	11001584
GO:0009888	Process	Tissue development	IEA
GO:0009949	Process	Polarity specification of anterior/posterior axis	IEA
GO:0009949	Process	Polarity specification of anterior/posterior axis	ISS
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	ISS
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0010463	Process	Mesenchymal cell proliferation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014003	Process	Oligodendrocyte development	IEA
GO:0014706	Process	Striated muscle tissue development	IEA
GO:0014856	Process	Skeletal muscle cell proliferation	IEA
GO:0014858	Process	Positive regulation of skeletal muscle cell proliferation	IEA
GO:0014902	Process	Myotube differentiation	IEA
GO:0016015	Function	Morphogen activity	NAS	8647801
GO:0016015	Function	Morphogen activity	TAS	24431302
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IEA
GO:0016539	Process	Intein-mediated protein splicing	IEA
GO:0016540	Process	Protein autoprocessing	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0021513	Process	Spinal cord dorsal/ventral patterning	IEA
GO:0021522	Process	Spinal cord motor neuron differentiation	IEA
GO:0021794	Process	Thalamus development	IEA
GO:0021871	Process	Forebrain regionalization	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021924	Process	Cell proliferation in external granule layer	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	ISS
GO:0021940	Process	Positive regulation of cerebellar granule cell precursor proliferation	IEA
GO:0021978	Process	Telencephalon regionalization	IEA
GO:0030162	Process	Regulation of proteolysis	IEA
GO:0030162	Process	Regulation of proteolysis	ISS
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IEA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030323	Process	Respiratory tube development	IEA
GO:0030324	Process	Lung development	IEA
GO:0030324	Process	Lung development	ISS
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0030336	Process	Negative regulation of cell migration	ISS
GO:0030539	Process	Male genitalia development	IEA
GO:0030539	Process	Male genitalia development	ISS
GO:0030850	Process	Prostate gland development	IEA
GO:0030850	Process	Prostate gland development	ISS
GO:0030878	Process	Thyroid gland development	IEA
GO:0030900	Process	Forebrain development	IEA
GO:0030900	Process	Forebrain development	ISS
GO:0030901	Process	Midbrain development	IEA
GO:0030901	Process	Midbrain development	ISS
GO:0030902	Process	Hindbrain development	IEA
GO:0030902	Process	Hindbrain development	ISS
GO:0031012	Component	Extracellular matrix	HDA	28344315
GO:0031012	Component	Extracellular matrix	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0033077	Process	T cell differentiation in thymus	IEA
GO:0033077	Process	T cell differentiation in thymus	ISS
GO:0033085	Process	Negative regulation of T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	IEA
GO:0033089	Process	Positive regulation of T cell differentiation in thymus	ISS
GO:0033092	Process	Positive regulation of immature T cell proliferation in thymus	IEA
GO:0033092	Process	Positive regulation of immature T cell proliferation in thymus	ISS
GO:0034244	Process	Negative regulation of transcription elongation by RNA polymerase II	IEA
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035295	Process	Tube development	IEA
GO:0036484	Process	Trunk neural crest cell migration	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	ISS
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042476	Process	Odontogenesis	IEA
GO:0042481	Process	Regulation of odontogenesis	IEA
GO:0042481	Process	Regulation of odontogenesis	ISS
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	ISS
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043237	Function	Laminin-1 binding	IEA
GO:0043237	Function	Laminin-1 binding	ISS
GO:0043369	Process	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IDA	17227833
GO:0043369	Process	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IEA
GO:0043588	Process	Skin development	IEA
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0045059	Process	Positive thymic T cell selection	ISS
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045060	Process	Negative thymic T cell selection	ISS
GO:0045109	Process	Intermediate filament organization	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045121	Component	Membrane raft	ISS
GO:0045165	Process	Cell fate commitment	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045445	Process	Myoblast differentiation	IEA
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IDA	19561609, 24342078
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	10654605
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	ISS
GO:0046639	Process	Negative regulation of alpha-beta T cell differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048468	Process	Cell development	IEA
GO:0048468	Process	Cell development	IEA
GO:0048468	Process	Cell development	ISS
GO:0048513	Process	Animal organ development	IEA
GO:0048538	Process	Thymus development	IEA
GO:0048538	Process	Thymus development	ISS
GO:0048546	Process	Digestive tract morphogenesis	IEA
GO:0048557	Process	Embryonic digestive tract morphogenesis	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048589	Process	Developmental growth	IEA
GO:0048598	Process	Embryonic morphogenesis	IEA
GO:0048617	Process	Embryonic foregut morphogenesis	IEA
GO:0048643	Process	Positive regulation of skeletal muscle tissue development	IEA
GO:0048645	Process	Animal organ formation	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048663	Process	Neuron fate commitment	ISS
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IBA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048711	Process	Positive regulation of astrocyte differentiation	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0048745	Process	Smooth muscle tissue development	IEP	17850284
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	ISS
GO:0048839	Process	Inner ear development	IEA
GO:0048859	Process	Formation of anatomical boundary	IEA
GO:0048864	Process	Stem cell development	IEA
GO:0048864	Process	Stem cell development	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0050793	Process	Regulation of developmental process	IEA
GO:0051146	Process	Striated muscle cell differentiation	IEA
GO:0051155	Process	Positive regulation of striated muscle cell differentiation	IEA
GO:0051781	Process	Positive regulation of cell division	IDA	11331587
GO:0060020	Process	Bergmann glial cell differentiation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	IEA
GO:0060173	Process	Limb development	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0060251	Process	Regulation of glial cell proliferation	IEA
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060428	Process	Lung epithelium development	IEA
GO:0060438	Process	Trachea development	IEA
GO:0060439	Process	Trachea morphogenesis	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEA
GO:0060442	Process	Branching involved in prostate gland morphogenesis	IEA
GO:0060445	Process	Branching involved in salivary gland morphogenesis	IEA
GO:0060447	Process	Bud outgrowth involved in lung branching	IEA
GO:0060458	Process	Right lung development	IEA
GO:0060459	Process	Left lung development	IEA
GO:0060463	Process	Lung lobe morphogenesis	IEA
GO:0060484	Process	Lung-associated mesenchyme development	IEA
GO:0060516	Process	Primary prostatic bud elongation	IEA
GO:0060523	Process	Prostate epithelial cord elongation	IEA
GO:0060662	Process	Salivary gland cavitation	IEA
GO:0060664	Process	Epithelial cell proliferation involved in salivary gland morphogenesis	IEA
GO:0060684	Process	Epithelial-mesenchymal cell signaling	IDA	12221011
GO:0060684	Process	Epithelial-mesenchymal cell signaling	IEA
GO:0060685	Process	Regulation of prostatic bud formation	IEA
GO:0060738	Process	Epithelial-mesenchymal signaling involved in prostate gland development	IEA
GO:0060767	Process	Epithelial cell proliferation involved in prostate gland development	IEA
GO:0060768	Process	Regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060769	Process	Positive regulation of epithelial cell proliferation involved in prostate gland development	IEA
GO:0060782	Process	Regulation of mesenchymal cell proliferation involved in prostate gland development	IEA
GO:0060783	Process	Mesenchymal smoothened signaling pathway involved in prostate gland development	IEA
GO:0060840	Process	Artery development	IEA
GO:0060916	Process	Mesenchymal cell proliferation involved in lung development	IEA
GO:0061053	Process	Somite development	IEA
GO:0061053	Process	Somite development	ISS
GO:0061189	Process	Positive regulation of sclerotome development	IDA	10654605
GO:0071285	Process	Cellular response to lithium ion	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	TAS	24431302
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072091	Process	Regulation of stem cell proliferation	IEA
GO:0072136	Process	Metanephric mesenchymal cell proliferation involved in metanephros development	IEA
GO:0072136	Process	Metanephric mesenchymal cell proliferation involved in metanephros development	ISS
GO:0072205	Process	Metanephric collecting duct development	IEP	17850284
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IEA
GO:0090370	Process	Negative regulation of cholesterol efflux	IEA
GO:0090370	Process	Negative regulation of cholesterol efflux	ISS
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:0097190	Process	Apoptotic signaling pathway	IEA
GO:0097190	Process	Apoptotic signaling pathway	ISS
GO:0097264	Process	Self proteolysis	IEA
GO:0097264	Process	Self proteolysis	ISS
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA
GO:0140853	Function	Cholesterol-protein transferase activity	IEA
GO:0140853	Function	Cholesterol-protein transferase activity	ISS
GO:1900107	Process	Regulation of nodal signaling pathway	NAS	17507406
GO:1900180	Process	Regulation of protein localization to nucleus	IDA	11331587
GO:1904339	Process	Negative regulation of dopaminergic neuron differentiation	IEA
GO:1905327	Process	Tracheoesophageal septum formation	IEA
GO:2000062	Process	Negative regulation of ureter smooth muscle cell differentiation	IEA
GO:2000062	Process	Negative regulation of ureter smooth muscle cell differentiation	ISS
GO:2000063	Process	Positive regulation of ureter smooth muscle cell differentiation	IEA
GO:2000063	Process	Positive regulation of ureter smooth muscle cell differentiation	ISS
GO:2000357	Process	Negative regulation of kidney smooth muscle cell differentiation	IEA
GO:2000357	Process	Negative regulation of kidney smooth muscle cell differentiation	ISS
GO:2000358	Process	Positive regulation of kidney smooth muscle cell differentiation	IEA
GO:2000358	Process	Positive regulation of kidney smooth muscle cell differentiation	ISS
GO:2000729	Process	Positive regulation of mesenchymal cell proliferation involved in ureter development	IEA
GO:2000729	Process	Positive regulation of mesenchymal cell proliferation involved in ureter development	ISS
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	IEA

Other IDs

• MIM: 600725
• HGNC: 10848
• e!Ensembl: ENSG00000164690

Protein

• UniProt ID: Q15465
• Protein name: Sonic hedgehog protein (SHH) (EC 3.1.-.-) (HHG-1) (Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains) (ShhNC) [Cleaved into: Sonic hedgehog protein N-product (ShhN) (Shh N-terminal processed signaling domains) (ShhNp)]
• Protein function: [Sonic hedgehog protein]: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two
• PDB: 3HO5, 3M1N, 3MXW, 6DMY, 6E1H, 6N7G, 6N7H, 6N7K, 6OEV, 6PJV, 6RMG, 6RVD, 7E2I, 7MHZ, 7RHQ, 7URF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01085	HH_signal	24 → 184	Hedgehog amino-terminal signalling domain	Domain
  PF01079	Hint	187 → 448	Hint module	Family

• Sequence:

  MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASG
  RYEGKISRNSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGV
  KLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAH
  IHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLT
  FLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALG
  PRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVL
  ASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGGGGRVALTAPGA
  ADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS

• Sequence length: 462

Pathways

KEGG:

Hedgehog signaling pathway
Axon guidance
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Gastric cancer

Reactome:

Hedgehog ligand biogenesis
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
Release of Hh-Np from the secreting cell
Ligand-receptor interactions
Activation of SMO
HHAT G278V abrogates palmitoylation of Hh-Np

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
Autism	Likely pathogenic	rs777486607	RCV002466306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 11	Pathogenic	rs779093031	RCV005863241	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Holoprosencephaly 3	Likely pathogenic; Pathogenic	rs2117128881, rs28936675, rs104894044, rs104894045, rs104894040, rs104894042, rs397515375, rs104894046, rs104894048, rs397515376, rs104894050, rs104894051, rs104894053, rs267607047, rs886042458, rs2535894339, rs2535901206, rs2535893958, rs2535893849, rs2535910513, rs2117124904, rs1057518660, rs763132615, rs1554493810, rs1554495331, rs1554493607, rs1420292012, rs779093031, rs1584800601, rs1584805934, rs1584806077, rs587778786, rs587778788, rs587778789, rs587778792, rs146990376, rs587778799, rs587778803, rs587778805, rs587778806, rs1584800607, rs1803239521	RCV002035686 RCV000009427 RCV000009428 RCV000009429 RCV000009430 RCV000009431 RCV000009432 RCV000009434 RCV000009435 RCV000009438 RCV000009439 RCV000009441 RCV000009443 RCV000009445 RCV000009447 RCV005252855 RCV003324622 RCV003447672 RCV003985191 RCV003990052 RCV004594782 RCV004594786 RCV000415165 RCV005252889 RCV000551543 RCV000585808 RCV000656536 RCV000656532 RCV000656537 RCV000656539 RCV000801241 RCV000807431 RCV000850368 RCV000056089 RCV000056094 RCV000056099 RCV000056105 RCV000056117 RCV000056121 RCV000056128 RCV000056132 RCV000056137 RCV003509644 RCV001254168	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microphthalmia, isolated, with coloboma 5	Likely pathogenic	rs753315599	RCV000824859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Partial agenesis of the corpus callosum	Pathogenic	rs868096125	RCV001788515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizencephaly	Pathogenic	rs760920236, rs1803267843	RCV003455850 RCV001197811	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Septo-optic dysplasia sequence	Pathogenic	rs2535900806	RCV002293592	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHH-related disorder	Likely pathogenic; Pathogenic	rs1131691989, rs1057518660, rs886042458	RCV004554093 RCV005863134 RCV003117460	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Solitary median maxillary central incisor syndrome	Pathogenic; Likely pathogenic	rs104894049, rs104894052, rs104894053, rs1131691989, rs2535893958, rs886042458	RCV000009440 RCV000009444 RCV000009446 RCV005254787 RCV005254894 RCV005252928 RCV005253028	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acrocallosal syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PREAXIAL POLYDACTYLY, UPPER BACK HYPERTRICHOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT PREAXIAL POLYDACTYLY-UPPERBACK HYPERTRICHOSIS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BYZANTHINE ARCH PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF SKELETAL SYSTEM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	CTD, Disgenet CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly sequence	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROFORM HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA AND MENTAL DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA/COLOBOMA 5	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS CO-OCCURRENT WITH CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Obesity	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PARKINSON DISEASE, SECONDARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL AGENESIS OF CORPUS CALLOSUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY OF A TRIPHALANGEAL THUMB	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, PREAXIAL II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTO-OPTIC DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL SYSTEM DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY TYPE 4	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY, TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPHALANGEAL THUMB AND POLYSYNDACTYLY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
1-5 finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired schizencephaly	Schizencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Acrocallosal Syndrome	Acrocallosal syndrome	Pubtator	31399769	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adenocarcinoma	Adenocarcinoma	LHGDN	16701100, 18953259		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	20938369		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	17390043, 18425375		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	20854074		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	16596257		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	10564585, 16260494, 22134538, 22160402, 22302101, 22966790, 23567267, 24174164, 24252460, 24460684, 24651015, 24932704, 25163932, 25263791, 25398846, 25412507, 25539912, 25862008, 26497209, 27229128, 28159923, 28218785, 28276480, 28490517, 28695340, 28716052, 28978137, 28989676, 29039487, 29079783, 29108280, 29280516, 29351917, 29377550, 29551561, 29582271, 29739450, 29753759, 29785653, 29796184, 29930101, 29971034, 30096798, 30392813, 30841515, 30848061, 30862721, 30890619, 31073205, 31236711, 31244888, 31346954, 31519974, 31621042, 31799776, 31813451		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	CTD_human_DG	15107988, 17525797, 23264560, 27585885		★☆☆☆☆ Found in Text Mining only
Alobar Holoprosencephaly	Alobar Holoprosencephaly	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Alobar holoprosencephaly	Alobar Holoprosencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	LHGDN	15128061		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	24930892		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	27386018, 35863182	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28170441		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	24768363	Inhibit	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	35551459	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23340176		★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	29778738	Associate	★☆☆☆☆ Found in Text Mining only
Arhinencephaly	Arrhinencephaly	CTD_human_DG	15107988, 17525797, 23264560, 27585885		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24741597, 26189371, 32670287, 35785032	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	21059263	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	30679601	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32186749	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerotic Parkinsonism	Atherosclerotic Parkinsonism	CTD_human_DG	11771942		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	14691301	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	11919111	Associate	★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	30010851		★☆☆☆☆ Found in Text Mining only
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Preaxial Polydactyly-Upperback Hypertrichosis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	10504535, 12068298		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	10554356, 29088246, 29230040, 33893086	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	27010479		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	27759212	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30361899		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	20526338	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	34905501	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	27453577, 31639285	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	20830616, 26286140, 26563370, 28228863	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	22265402		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12516098, 19706168, 20180807, 30041193		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12115313, 18507014, 20180807, 20830616, 21372638, 22235097, 22615870, 25889650, 25915429, 25990213, 26563370, 26586670, 26727947, 28739739, 29734730, 30041193, 31036836, 36737428, 36753971	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16855373	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16528374, 16810741, 17209848, 18776995, 22995914, 25141859, 27039174, 27918595, 31538424, 35266008, 35505292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25740074	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	26997450		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	26790448	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	15175043, 15675968, 23284750, 24203628, 26578727, 29776351, 31756206, 33994358, 35505292, 36014865, 37597490	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	18776995, 22543708, 24712101, 25740074, 29722127, 31406102, 32496832, 35768071, 36348351, 37884351	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	26790448	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30361899		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25176061	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31072042	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35266008	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37240278, 37964226	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16810741, 24758269, 31221127, 35505292	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	11841368, 23229765, 31244888, 9349822, 9422511, 9581815		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	LHGDN	17102592		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	35313742	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	35749127	Associate	★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	9508065		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	29428974	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	12115313	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	23894369, 28391011		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	10564585, 16260494, 22134538, 22160402, 22302101, 22966790, 23567267, 24174164, 24252460, 24460684, 24651015, 24932704, 25163932, 25263791, 25398846, 25412507, 25539912, 25862008, 26497209, 27229128, 28159923, 28218785, 28276480, 28490517, 28695340, 28716052, 28978137, 28989676, 29039487, 29079783, 29108280, 29280516, 29351917, 29377550, 29551561, 29582271, 29739450, 29753759, 29785653, 29796184, 29930101, 29971034, 30096798, 30392813, 30841515, 30848061, 30862721, 30890619, 31073205, 31236711, 31244888, 31346954, 31519974, 31621042, 31799776, 31813451		★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	25740074, 36423790	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	Pubtator	40221697	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	28058596		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	31201503	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	36837507	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colobomatous microphthalmia	Microphthalmia With Coloboma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	17461467	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19856079, 20854074, 22901214, 28833104, 30539521		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17461467		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17461467, 22901214, 27458094, 30363662, 31795147, 36797277, 37597490	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25740074, 30539521	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of tibia	Tibial hemimelia	BEFREE	9600232		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	21940735		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	27010479		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19429598, 22160402, 9254845		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28035386		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital stenosis of nasal pyriform aperture	Congenital Stenosis Of Nasal Pyriform Aperture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31788053		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	BEFREE	28284480		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	12797454, 28035386		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	16596257		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	25990246, 26927026, 27562488	Associate	★☆☆☆☆ Found in Text Mining only
Currarino triad	Currarino syndrome	Pubtator	8933345	Associate	★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	23967143, 30391523, 31173931		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic neutropenia	Pubtator	29778738	Associate	★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	GENOMICS_ENGLAND_DG	12567406		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	BEFREE	16282375		★☆☆☆☆ Found in Text Mining only
Cyclocephaly	Cyclocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25385442		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	36981009	Associate	★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	15659790		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	BEFREE	24932704		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	19057928		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28965847, 29061174, 29492654, 36874970	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19629560	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	12588889		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgnathia complex	Dysgnathia complex	Pubtator	32100971	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	39586576	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29980254	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	26456192		★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	27453577	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36498832	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	23967143, 27609775		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	LHGDN	12632368		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	LHGDN	16003737		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial schizencephaly	Schizencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	30744560	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	31087761	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	22641094, 30744560	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30720468		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	17007023		★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	28058596		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	16528374		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	30703170	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	14691301	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	17209848	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	LHGDN	14691301		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	39401779	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	26997450		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	17007023		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	17007023	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	17628016		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	20830616, 23482671, 25595187, 25604826, 26299938, 27819521, 32504326, 34984467, 37407723, 37918288	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22406999		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	12183437, 17353902, 29222038, 31292920		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20957337, 27002148, 27662839, 27697090, 28446712, 32256960, 34747078	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	25927242	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	LHGDN	12773389		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	27553089, 27918595	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33218365	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	27939373	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	28739739	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	LHGDN	19177589		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	20180807, 28739739	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary gingival fibromatosis	Hereditary Gingival Fibromatosis	BEFREE	25163932		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	22901214, 23934731, 24962990, 31408546		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	26111189	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	21385932	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	10556296, 10598817, 10762164, 10852374, 11479728, 11941477, 12567406, 12709790, 16282375, 16752381, 17001669, 17001700, 17525797, 18178536, 18348270, 18762283, 18836447, 19057928, 19398181, 19603532, 20157829, 20531442, 21044704, 21183473, 21940735, 21995818, 22383895, 25218063, 27614115, 29321670, 8058764, 8896572, 8938447, 8989473, 9254845, 9728329		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	Pubtator	10594002, 11919111, 16199538, 19346217, 19431187, 19603532, 20157829, 20531442, 21842183, 21940735, 21976454, 21995818, 22310223, 23276570, 26748417, 29492654, 30936464, 34235642, 38529886, 8058764, 8933345	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	GENOMICS_ENGLAND_DG	12032320, 7550324		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	LHGDN	12709790, 15221788, 15292211, 16282375, 19057928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CTD_human_DG	15107988, 17525797, 23264560, 27585885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY 3	Holoprosencephaly	UNIPROT_DG	10441331, 10556296, 11479728, 15107988, 15221788, 15942952, 15942953, 16282375, 17001669, 19603532, 8896572, 9302262		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 3	Holoprosencephaly	GENOMICS_ENGLAND_DG	12503095, 22897141, 7550324		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 3	Holoprosencephaly	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HOLOPROSENCEPHALY 3	Holoprosencephaly	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemias	Hyperlipoproteinemia	BEFREE	25079293		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	26189371	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrichosis	Hypertrichosis	Pubtator	25782671	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplastic tibiae-postaxial polydactyly syndrome	Hypoplastic Tibia And Postaxial Polydactyly Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	23727413		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	21338440, 28522681, 36423790	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33418093	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	23023967, 27869174	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	29477141	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23091001, 30729724	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	37979732	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	12377798	Inhibit	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	17209848	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	17007023	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28391011		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kaposiform Hemangioendothelioma	Kaposiform Hemangioendothelioma	BEFREE	31092427		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	27793034		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	16752381		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	17007023	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	22240607	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	30392813		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31117185		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	22265402		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	26189965		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29069716, 31406102		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	25740074	Associate	★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	CTD_human_DG	15107988, 17525797, 23264560, 27585885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar Holoprosencephaly	Lobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lobar holoprosencephaly	Lobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Long QT Syndrome	Long qt syndrome	Pubtator	31347270	Associate	★☆☆☆☆ Found in Text Mining only
Longitudinal deficiency of radius	Longitudinal Deficiency Of Radius	ORPHANET_DG	26394607		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	21039988, 28522681	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	21039988	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29115573, 31538424, 33291316	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	21861243, 25060182, 28886265	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24710823, 30361899	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	21498696		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	21150899		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	18524848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	31073205		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12516098, 16855373, 19706168, 30041193		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	28058596		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	29722127		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16367914, 22513293, 23056513, 29535824, 29620188, 30539521		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21973075, 24925370, 26581960		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30396071		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29243843		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30361899		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18997815, 28716052, 28978137, 29384224, 29581874, 29930101, 30392813, 31185958, 31813451		★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	34981460	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10564585, 14568546, 16260494, 20823417, 21150899, 21874045, 22134538, 22160402, 22302101, 22358458, 22966790, 23179372, 23567267, 24174164, 24252460, 24300787, 24460684, 24493713, 24651015, 24932704, 25163932, 25263791, 25398846, 25412507, 25539912, 25859932, 25862008, 26497209, 27040285, 27229128, 28159923, 28218785, 28276480, 28490517, 28695340, 28716052, 28757413, 28798218, 28978137, 28989676, 29039487, 29079783, 29108280, 29280516, 29351917, 29377550, 29551561, 29562177, 29582169, 29582271, 29739450, 29753759, 29785653, 29796184, 29930101, 29971034, 30096798, 30228931, 30392813, 30841515, 30848061, 30862721, 30890619, 31073205, 31139698, 31236711, 31244888, 31346954, 31519974, 31574483, 31621042, 31799776, 31813451		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	15249678, 18691547		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	17039417, 18068533, 19966297, 20480407, 20823417, 20830616, 21059263, 21267586, 21325292, 21681522, 22134537, 22212915, 22358458, 22411914, 22808009, 23497290, 23835706, 24203893, 24252460, 24493713, 25030029, 25150496, 25258252, 25412507, 26222673, 26286140, 26571415, 27106407, 27601167, 28228863, 28231263, 28545823, 28716052, 28798218, 29016837, 29427151, 29778738, 30197333, 30695694, 30832734, 30901604, 31185958, 31385424, 31423907, 31664194, 32187514, 32320737, 32380172, 32591022, 33119584, 33175161, 33206391, 33589929, 33741928, 33893086, 33978203, 33994358, 34272868, 34324588, 34747078, 35320876, 35438562, 35460555, 35802536, 35967388, 36067288, 36096860, 36273330, 36288719, 36459208, 36635771, 36715306, 36813922, 36825029, 36941703, 37511358, 37597490, 37875069, 38191555, 38384024, 39586576, 40528003	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	28561706, 39847453	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	37805627	Associate	★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	28551328		★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	BEFREE	24478176		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	23379358		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	18762283, 9508065		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microform holoprosencephaly	Microform Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)	Microphthalmia with Coloboma	GENOMICS_ENGLAND_DG	12503095, 12567406, 22897141		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)	Microphthalmia with Coloboma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	18762283		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Midline interhemispheric variant of holoprosencephaly	Midline Interhemispheric Variant Of Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	31028265		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	36498832	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	28886265	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	12926841		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	34314648	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	LHGDN	16244652		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	19629560	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15482598, 20004133, 21150899, 21803487, 22160402, 22358458, 22361633, 24174164, 24252460, 24930892, 25862008, 26790448, 27106407, 28276480, 28490517, 28716052, 29280516, 29329585, 29616106, 29796184, 29930101, 30392813, 30826918, 30862721, 31068675, 31504816		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25927242	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	10777830, 9600232		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19622100, 20830616	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30679601	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16300466		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	9581815		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	29778738	Associate	★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	28379564		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30744560		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28207535	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	28871046		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	29778738	Associate	★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	20004133		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	23474492, 37533228	Associate	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	34061439	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35313742	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29203762, 29864766	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19028702	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24848881, 27737724	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16367914, 22513293, 23056513, 29620188		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	14520413, 18422746, 18829478, 19004543		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19862523, 20215540, 21796625, 22087285, 22125638, 22995914, 23029396, 23056513, 25072505, 25176061, 26689865, 26815504, 30272371	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30539521	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	21796625, 23029396, 30272371	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	22513293		★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31590919		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20603216		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37996418	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease, Secondary Vascular	Parkinson Disease	CTD_human_DG	11771942		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	23727413		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30544841		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	12377798	Associate	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	16159933		★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	25141859	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	12032320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	BEFREE	24020795, 28035386, 28127823, 9600232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	Pubtator	31115189	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	Pubtator	11333865, 25782671, 28690477	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, PREAXIAL II (disorder)	Polydactyly	GENOMICS_ENGLAND_DG	12567406		★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, PREAXIAL II (disorder)	Polydactyly	ORPHANET_DG	18178630, 19847792, 26394607		★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, PREAXIAL II (disorder)	Polydactyly	BEFREE	28035386		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	25927242	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	17895245		★☆☆☆☆ Found in Text Mining only
Progressive pseudorheumatoid dysplasia	Progressive Pseudorheumatoid Dysplasia	BEFREE	15917205, 19066618, 31395945		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21973075, 24925370, 26581960		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15314219		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15314219, 15482598, 16507112, 20333644, 25674212, 35805202	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32867229	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	28522681	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	12635140		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	GENOMICS_ENGLAND_DG	12032320		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	BEFREE	15917205, 19066618, 24214579		★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	31202261		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	29230040	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	31244888		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	29230040	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	32670287	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31202261		★☆☆☆☆ Found in Text Mining only
Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome	BEFREE	29551561		★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	BEFREE	9508065		★☆☆☆☆ Found in Text Mining only
Sacral dysgenesis	Sacral Dysgenesis	BEFREE	27614115		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	26790448	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33077922	Associate	★☆☆☆☆ Found in Text Mining only
Schizencephaly	Schizencephaly	GENOMICS_ENGLAND_DG	12503095		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizencephaly	Schizencephaly	BEFREE	20157829		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizencephaly	Schizencephaly	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schizophrenia	Schizophrenia	Pubtator	29492654	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary Parkinson Disease	Parkinson disease	CTD_human_DG	11771942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	CTD_human_DG	15107988, 17525797, 23264560, 27585885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar Holoprosencephaly	Semilobar Holoprosencephaly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seminoma	Seminoma	Pubtator	25927242	Associate	★☆☆☆☆ Found in Text Mining only
Septopreoptic holoprosencephaly	Septopreoptic Holoprosencephaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Situs ambiguus	Situs ambiguus	BEFREE	10852374		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	10852374		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	24203628	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	15140221	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	31068675		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31538424	Associate	★☆☆☆☆ Found in Text Mining only
Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome	BEFREE	8989473		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	UNIPROT_DG	11471164, 15103725		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	GENOMICS_ENGLAND_DG	12503095, 12567406		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	BEFREE	16722608, 17584896		★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	HPO_DG			★☆☆☆☆ Found in Text Mining only
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	Fused incisors	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	14733907		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27905054		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26768620, 27553089, 27918595, 28886265, 29507910, 31744214, 33418093	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	31167533		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of oropharynx	Oropharyngeal carcinoma	BEFREE	21484923		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30396071		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	12377798	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	14691301, 15905200, 18174246		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	14691301, 16528374, 16810741, 17209848, 19930158, 20087349, 22799764, 25197388, 26057149, 27039174, 28621241, 30685841, 33811245, 36346167, 36510975	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly, Type IV	Syndactyly	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thromboembolism	Thromboembolism	Pubtator	25141859	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	23410206	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25060182	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29243843		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25078145	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29243843		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	33966040, 34956562	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	25078145	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	36447010	Associate	★☆☆☆☆ Found in Text Mining only
Triphalangeal thumb-polysyndactyly syndrome	Triphalangeal Thumb-Polysyndactyly Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26727947, 26963129, 31545492	Associate	★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	28928250	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20858759, 21861243, 30361899, 35167374	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	22361633	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22028038	Associate	★☆☆☆☆ Found in Text Mining only
VACTERL Association	VACTERL Association	BEFREE	31315107		★☆☆☆☆ Found in Text Mining only
Varicocele	Varicocele	BEFREE	26867642		★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	37918288	Associate	★☆☆☆☆ Found in Text Mining only