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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8200
Gene name	Growth differentiation factor 5
Gene symbol	GDF5
Synonyms (NCBI Gene)	BDA1CBMP-14BMP14CDMP1DUPANSLAP-4LAP4OS5SYM1BSYNS2
Chromosome	20
Chromosome location	20q11.22
Summary	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143383	G>A	Risk-factor, benign	Intron variant, 5 prime UTR variant
rs28936397	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs753691079	CCC>-,CCCC	Pathogenic	Coding sequence variant, inframe deletion, frameshift variant
rs761962752	->G	Pathogenic	Coding sequence variant, frameshift variant
rs778834209	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs886042462	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1194065564	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1555823599	G>-	Risk-factor, benign	Intron variant, 5 prime UTR variant

Show/Hide all (98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017506	hsa-miR-335-5p	Microarray	18185580
MIRT054572	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	24577233
MIRT054572	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	24577233
MIRT732384	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	27583982
MIRT732384	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	27583982
MIRT1015726	hsa-miR-132	CLIP-seq
MIRT1015727	hsa-miR-150	CLIP-seq
MIRT1015728	hsa-miR-212	CLIP-seq
MIRT1015729	hsa-miR-214	CLIP-seq
MIRT1015730	hsa-miR-3156-3p	CLIP-seq
MIRT1015731	hsa-miR-342-3p	CLIP-seq
MIRT1015732	hsa-miR-3619-5p	CLIP-seq
MIRT1015733	hsa-miR-4279	CLIP-seq
MIRT1015734	hsa-miR-4291	CLIP-seq
MIRT1015735	hsa-miR-4301	CLIP-seq
MIRT1015736	hsa-miR-4687-5p	CLIP-seq
MIRT1015737	hsa-miR-4713-5p	CLIP-seq
MIRT1015738	hsa-miR-4768-5p	CLIP-seq
MIRT1015739	hsa-miR-483-3p	CLIP-seq
MIRT1015740	hsa-miR-483-5p	CLIP-seq
MIRT1015741	hsa-miR-532-3p	CLIP-seq
MIRT1015742	hsa-miR-761	CLIP-seq
MIRT1015743	hsa-miR-922	CLIP-seq
MIRT1015744	hsa-miR-942	CLIP-seq
MIRT2234192	hsa-miR-1253	CLIP-seq
MIRT2234193	hsa-miR-125a-3p	CLIP-seq
MIRT2234194	hsa-miR-21	CLIP-seq
MIRT2234195	hsa-miR-224	CLIP-seq
MIRT2234196	hsa-miR-3150b-3p	CLIP-seq
MIRT2234197	hsa-miR-3691-3p	CLIP-seq
MIRT2234198	hsa-miR-3919	CLIP-seq
MIRT2234199	hsa-miR-3929	CLIP-seq
MIRT2234200	hsa-miR-4251	CLIP-seq
MIRT2234201	hsa-miR-4419b	CLIP-seq
MIRT2234202	hsa-miR-4478	CLIP-seq
MIRT2234203	hsa-miR-4493	CLIP-seq
MIRT2234204	hsa-miR-4689	CLIP-seq
MIRT2234205	hsa-miR-4710	CLIP-seq
MIRT2234206	hsa-miR-4726-3p	CLIP-seq
MIRT2234207	hsa-miR-4756-3p	CLIP-seq
MIRT2234208	hsa-miR-4784	CLIP-seq
MIRT2234209	hsa-miR-590-5p	CLIP-seq
MIRT2538226	hsa-miR-1200	CLIP-seq
MIRT2538227	hsa-miR-1261	CLIP-seq
MIRT2538228	hsa-miR-1286	CLIP-seq
MIRT1015727	hsa-miR-150	CLIP-seq
MIRT2538229	hsa-miR-1915	CLIP-seq
MIRT2538230	hsa-miR-1976	CLIP-seq
MIRT2234194	hsa-miR-21	CLIP-seq
MIRT1015729	hsa-miR-214	CLIP-seq
MIRT2234195	hsa-miR-224	CLIP-seq
MIRT1015730	hsa-miR-3156-3p	CLIP-seq
MIRT2538231	hsa-miR-3157-5p	CLIP-seq
MIRT1015732	hsa-miR-3619-5p	CLIP-seq
MIRT2234197	hsa-miR-3691-3p	CLIP-seq
MIRT2538232	hsa-miR-3691-5p	CLIP-seq
MIRT2234198	hsa-miR-3919	CLIP-seq
MIRT2538233	hsa-miR-4252	CLIP-seq
MIRT1015733	hsa-miR-4279	CLIP-seq
MIRT1015734	hsa-miR-4291	CLIP-seq
MIRT1015735	hsa-miR-4301	CLIP-seq
MIRT2538234	hsa-miR-4324	CLIP-seq
MIRT2538235	hsa-miR-4433	CLIP-seq
MIRT2538236	hsa-miR-4471	CLIP-seq
MIRT2538237	hsa-miR-4474-3p	CLIP-seq
MIRT2538238	hsa-miR-4476	CLIP-seq
MIRT2538239	hsa-miR-4677-3p	CLIP-seq
MIRT2538240	hsa-miR-4679	CLIP-seq
MIRT1015736	hsa-miR-4687-5p	CLIP-seq
MIRT2538241	hsa-miR-4691-3p	CLIP-seq
MIRT1015737	hsa-miR-4713-5p	CLIP-seq
MIRT2538242	hsa-miR-4722-5p	CLIP-seq
MIRT2234206	hsa-miR-4726-3p	CLIP-seq
MIRT2538243	hsa-miR-4752	CLIP-seq
MIRT2234207	hsa-miR-4756-3p	CLIP-seq
MIRT1015738	hsa-miR-4768-5p	CLIP-seq
MIRT1015739	hsa-miR-483-3p	CLIP-seq
MIRT1015740	hsa-miR-483-5p	CLIP-seq
MIRT2538244	hsa-miR-513c	CLIP-seq
MIRT2538245	hsa-miR-514b-5p	CLIP-seq
MIRT1015741	hsa-miR-532-3p	CLIP-seq
MIRT2538246	hsa-miR-544b	CLIP-seq
MIRT2234209	hsa-miR-590-5p	CLIP-seq
MIRT2538247	hsa-miR-618	CLIP-seq
MIRT2538248	hsa-miR-665	CLIP-seq
MIRT2538249	hsa-miR-760	CLIP-seq
MIRT1015742	hsa-miR-761	CLIP-seq
MIRT1015743	hsa-miR-922	CLIP-seq
MIRT1015744	hsa-miR-942	CLIP-seq
MIRT1015729	hsa-miR-214	CLIP-seq
MIRT2538231	hsa-miR-3157-5p	CLIP-seq
MIRT1015732	hsa-miR-3619-5p	CLIP-seq
MIRT2538233	hsa-miR-4252	CLIP-seq
MIRT1015734	hsa-miR-4291	CLIP-seq
MIRT2538241	hsa-miR-4691-3p	CLIP-seq
MIRT1015740	hsa-miR-483-5p	CLIP-seq
MIRT1015742	hsa-miR-761	CLIP-seq
MIRT1015743	hsa-miR-922	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
DEAF1	Unknown	24861163
SP1	Unknown	24861163
SP3	Unknown	24861163

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	16127465, 18339631, 18586671, 19229295, 21543859, 21976273, 24098149
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS	7961761
GO:0007267	Process	Cell-cell signaling	TAS	8589725
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	8589725
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	21976273, 25092592
GO:0030513	Process	Positive regulation of BMP signaling pathway	IDA	24098149
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IDA	21976273
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IDA	21976273, 24098149
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0036122	Function	BMP binding	IPI	21976273
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	25174448
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043932	Process	Ossification involved in bone remodeling	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IDA	9950587
GO:0051216	Process	Cartilage development	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	21976273, 25092592
GO:0060591	Process	Chondroblast differentiation	IDA	25092592
GO:0090092	Process	Regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
601146	4220	ENSG00000125965

P43026

Protein name

Growth/differentiation factor 5 (GDF-5) (Bone morphogenetic protein 14) (BMP-14) (Cartilage-derived morphogenetic protein 1) (CDMP-1) (Lipopolysaccharide-associated protein 4) (LAP-4) (LPS-associated protein 4) (Radotermin)

Protein function

Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding

PDB

1WAQ , 2BHK , 3EVS , 3QB4 , 5HK5 , 6Z3G , 6Z3H , 6Z3J , 6Z3L , 6Z3M , 7ZJF , 8BWL , 8BWM , 8BWN , 8E3G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	143 → 345	TGF-beta propeptide	Family
PF00019	TGF_beta	399 → 500	Transforming growth factor beta like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in long bones during embryonic development. Expressed in monocytes (at protein level). {ECO:0000269|PubMed:11276205}.

Sequence

MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRP
GGHSYGGGATNANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATAR
TVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTL
SDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFDISALEKDGLLGAELR
ILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPASLLDVRSVPGLDGSGWEVFDIWKLF
RNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKA
RSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIA
PLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFID
SANNVVYKQYEDMVVESCGCR

Sequence length

501

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway		Molecules associated with elastic fibres

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acromesomelic dysplasia 2B	Pathogenic	rs28936683, rs121909350, rs121909351	RCV000008887 RCV000008901 RCV000008902	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly type A1C	Likely pathogenic; Pathogenic	rs74315387, rs397514519	RCV003137503 RCV000032711	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly type C	Pathogenic; Likely pathogenic	rs2146579283, rs74315386, rs28936397, rs753691079, rs121909348, rs886039878, rs2146583022	RCV004762142 RCV000008884 RCV000008891 RCV000008892 RCV000008899 RCV000256400 RCV001580269 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GDF5-related disorder	Pathogenic	rs778834209	RCV004733110	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Grebe syndrome	Likely pathogenic; Pathogenic	rs74315387, rs761962752, rs886042958, rs397514668, rs1568731526, rs2146582931	RCV000008885 RCV000008886 RCV003326704 RCV005237454 RCV000761432 RCV001523788 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple synostoses syndrome 2	Likely pathogenic; Pathogenic	rs74315386, rs74315388, rs121909347	RCV003129749 RCV000008894 RCV000008896	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Symphalangism, proximal, 1B	Pathogenic	rs28936683, rs74315388, rs74315389, rs121909349	RCV001770033 RCV000008893 RCV000008897 RCV000008900	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type A2 brachydactyly	Pathogenic; Likely pathogenic	rs28936683, rs886042462, rs397514668	RCV000008888 RCV001808729 RCV000033861	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (29)

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.
Acromesomelic dysplasia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ACROMESOMELIC DYSPLASIA 2A	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acromesomelic dysplasia 2C, Hunter-Thompson type	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANGEL SHAPED PHALANGOEPIPHYSEAL DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BRACHYDACTYLY SYNDROME TYPE C	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY TYPE A1	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY TYPE A2	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1, C	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE C	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHONDRODYSPLASIA, GREBE TYPE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DYSPLASIA OF THE HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DYSPLASIA OF THE HIP 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSES SYNDROME	—	Orphanet Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSES SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis susceptibility 5	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Symphalangism-brachydactyly syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (172)

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
Acquired deformity of finger	Mallet finger	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia	Acromesomelic dysplasia	Pubtator	15805157, 26105076, 29322508	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acromesomelic dysplasia Hunter-Thompson type	Acromesomelic dysplasia	GENOMICS_ENGLAND_DG	2703235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia Hunter-Thompson type	Acromesomelic dysplasia	BEFREE	27577507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia Hunter-Thompson type	Acromesomelic dysplasia	ORPHANET_DG	8589725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia Hunter-Thompson type	Acromesomelic dysplasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia, Grebe type	Acromesomelic dysplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromesomelic dysplasia, Hunter-Thompson type	Acromesomelic dysplasia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE	Acromesomelic dysplasia	BEFREE	9634515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angel shaped phalangoepiphyseal dysplasia	Phalangoepiphyseal Dysplasia	ORPHANET_DG	15173244		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angel shaped phalangoepiphyseal dysplasia	Phalangoepiphyseal Dysplasia	BEFREE	22828468		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angel-shaped phalango-epiphyseal dysplasia	Phalangoepiphyseal Dysplasia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosis of the elbow joint	Elbow ankylosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28671685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	16532400, 20683927, 24098149		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly	Brachydactyly	Pubtator	23483675, 35819086	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachydactyly syndrome type C	Brachydactyly	ORPHANET_DG	12357473		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type A1	Brachydactyly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type A2	Brachydactyly	Pubtator	16014698, 33486847	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly type A2	Brachydactyly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly Type B1	Brachydactyly	Pubtator	17668388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly type C	Brachydactyly	BEFREE	12357473, 12567410, 14735582, 16957682, 18283415, 22828468, 23483675, 23812741, 25092592, 25820810, 25994865, 26275437		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type C	Brachydactyly	ORPHANET_DG	12357473		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type C	Brachydactyly	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type C	Brachydactyly	UNIPROT_DG	14735582, 22828468, 25092592, 25820810		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type C	Brachydactyly	Pubtator	16532400, 23483675, 35819086	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type C	Brachydactyly	GENOMICS_ENGLAND_DG	2703235		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type C	Brachydactyly	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type C	Brachydactyly	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly type C	Brachydactyly	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	ORPHANET_DG	20683927		★★★★★ ★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	BEFREE	24098149		★★★★★ ★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder)	Brachydactyly	GENOMICS_ENGLAND_DG	2703235		★★★★★ ★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE A1, C	Brachydactyly	UNIPROT_DG	20683927, 24098149		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1, C	Brachydactyly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1, C	Brachydactyly	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A1, C	Brachydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	BEFREE	16014698, 16127465, 16957682, 18203755, 19327734		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	ORPHANET_DG	16014698		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	UNIPROT_DG	16127465, 18203755, 21976273		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	GENOMICS_ENGLAND_DG	2703235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE A2	Brachydactyly	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	23226264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23226264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27151703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	28481944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Grebe type	Chondrodysplasia	Pubtator	19038017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia, Grebe type	Chondrodysplasia Punctata	BEFREE	12124730, 18979166, 19038017, 23812741, 26105076, 26275437, 27577507		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Grebe type	Chondrodysplasia Punctata	CLINVAR_DG	12900894		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Grebe type	Chondrodysplasia Punctata	GENOMICS_ENGLAND_DG	2703235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Grebe type	Chondrodysplasia Punctata	UNIPROT_DG	9288098		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Grebe type	Chondrodysplasia Punctata	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia, Grebe type	Chondrodysplasia Punctata	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	23483675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	19127394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	20633687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	18947434, 20633687, 21542882, 21642387, 29797005, 30388100, 31338995, 31522852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17384641, 17616513, 17656374, 17676627, 18193045, 18299287, 18947434, 19029166, 19054821, 19479880, 19486942, 19565498, 19818765, 20090528, 20499385 View all (32 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	17384641, 17616513, 18697781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	18830904, 30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Dysplasia of the Hip	Developmental dysplasia of the hip	Pubtator	21542882, 31338995, 34203285	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DYSPLASIA OF THE HIP 1	Developmental dysplasia	CTD_human_DG	18947434		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	25547527, 26739524, 27583982, 29545889, 30217184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28747750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibular aplasia-complex brachydactyly syndrome	Fibular Aplasia-Complex Brachydactyly Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibular hypoplasia and complex brachydactyly	Fibular Hypoplasia And Complex Brachydactyly	BEFREE	12121354, 16222676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibular hypoplasia and complex brachydactyly	Fibular Hypoplasia And Complex Brachydactyly	UNIPROT_DG	12121354, 16222676, 18629880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibular hypoplasia and complex brachydactyly	Fibular Hypoplasia And Complex Brachydactyly	ORPHANET_DG	16222676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibular hypoplasia and complex brachydactyly	Fibular Hypoplasia And Complex Brachydactyly	GENOMICS_ENGLAND_DG	2703235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibular hypoplasia and complex brachydactyly	Fibular Hypoplasia And Complex Brachydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibular hypoplasia and complex brachydactyly	Fibular Hypoplasia And Complex Brachydactyly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Dislocation, Congenital	Congenital Hip dislocation	BEFREE	20633687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Dysplasia, Congenital, Nonsyndromic	Congenital Hip dislocation	GWASCAT_DG	30273415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	31553232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperostosis Diffuse Idiopathic Skeletal	Diffuse idiopathic skeletal hyperostosis	Pubtator	37156767	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	23388029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of thumb	Hypoplasia Of Thumb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	15095821, 26739524, 29761869, 30217184, 30660009		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	25755766, 26739524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	39287911	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	21542882, 24105021, 24861163	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	25547527, 26739524, 27583982, 29545889, 30217184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kashin-Beck Disease	Kashin-Beck Disease	BEFREE	25072641, 27256326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	21360499, 30186416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	18283415, 19327734, 26275437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	21360499, 30186416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Madelung Deformity	Madelung deformity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23226264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30258285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31553232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple synostoses syndrome	Multiple Synostoses Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostoses syndrome 1	Multiple Synostoses Syndrome	ORPHANET_DG	16532400		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSES SYNDROME 2	Multiple Synostoses Syndrome	UNIPROT_DG	16532400, 19956691, 21976273, 24098149		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE SYNOSTOSES SYNDROME 2	Multiple Synostoses Syndrome	BEFREE	24098149		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE SYNOSTOSES SYNDROME 2	Multiple Synostoses Syndrome	GENOMICS_ENGLAND_DG	2703235		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE SYNOSTOSES SYNDROME 2	Multiple Synostoses Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE SYNOSTOSES SYNDROME 2	Multiple Synostoses Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple synostosis syndrome	Multiple Synostoses Syndrome	BEFREE	16532400, 19956691, 25543012		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostosis syndrome	Multiple Synostoses Syndrome	ORPHANET_DG	16532400		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	24911143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21858606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28458020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16122479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	30777926, 34872017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31553232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	18947434, 19565498, 20499385, 20633687, 20939878, 21281725, 21400473, 21936909, 22905146, 22929025, 23357225, 23825960, 24466161, 24561281, 24716474 View all (12 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis	Osteoarthritis	Pubtator	22929025, 35508470	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Knee	Osteoarthritis	Pubtator	21542882, 21936909, 22102359, 22615457, 24861163, 27696742, 30777926, 36089590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	17384641, 25456297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	17676627, 19029166, 21542882, 21936909, 22284607, 23151597, 24861163, 25467786, 30044130, 30777926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	LHGDN	18299287		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30374069, 30664745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	CTD_human_DG	30374069		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	18830904, 30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasias	Pubtator	15805157	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	18283415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28642196, 29031993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21858606, 22436046, 28458020		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ramer Ladda syndrome	Ramer Ladda Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18697781		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	18830904		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	24398992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe short-limb dwarfism	Short-Limb Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	18283415		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylolisthesis	Spondylolisthesis	BEFREE	21270694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylolysis	Spondylolysis	BEFREE	21270694		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27151703	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)	Teunissen Cremers syndrome	BEFREE	25391606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30258285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	ORPHANET_DG	16892395, 18283415		★★★★★ ★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	BEFREE	16957682, 17994231, 18283415, 29371961		★★★★★ ★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1A	Symphalangism	BEFREE	16892395, 16957682, 18283415, 19956691, 24326127, 29371961, 31105738		★★★★★ ★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1A	Symphalangism	GENOMICS_ENGLAND_DG	2703235		★★★★★ ★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1B	Symphalangism	UNIPROT_DG	16127465, 16892395, 18283415		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SYMPHALANGISM, PROXIMAL, 1B	Symphalangism	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SYMPHALANGISM, PROXIMAL, 1B	Symphalangism	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SYMPHALANGISM, PROXIMAL, 1B	Symphalangism	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndactyly	Syndactyly	BEFREE	16127465, 16892395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes Equinovalgus	Talipes Equinovalgus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	21233139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	21233139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	BEFREE	16005596, 19127394		★★★★★ ★☆☆☆☆ Found in Text Mining only

GDF5 (growth differentiation factor 5)