GDF6 (growth differentiation factor 6)

Gene

• Entrez ID: 392255
• Gene name: Growth differentiation factor 6
• Gene symbol: GDF6
• Synonyms (NCBI Gene): BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4
• Chromosome: 8
• Chromosome location: 8q22.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs63751220	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121909352	G>T	Likely-benign, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121909353	T>C	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs121909354	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs121909355	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909356	G>T	Pathogenic	Missense variant, coding sequence variant
rs140782427	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs387906794	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514725	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs878853102	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1401531865	C>G,R	Pathogenic	Missense variant, coding sequence variant
rs1554571213	A>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT724186	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT724185	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT724184	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT724183	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT724182	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT724181	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT724180	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT724179	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT724178	hsa-miR-4279	HITS-CLIP	19536157
MIRT681713	hsa-miR-589-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	PAR-CLIP	26701625
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	HITS-CLIP	27418678
MIRT735642	hsa-miR-98-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	32045359
MIRT724186	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT724185	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT724184	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT724183	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT724182	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT724181	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT724180	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT724179	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT724178	hsa-miR-4279	HITS-CLIP	19536157
MIRT681713	hsa-miR-589-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	HITS-CLIP	23706177
MIRT1015745	hsa-miR-361-3p	CLIP-seq
MIRT1015746	hsa-miR-3620	CLIP-seq
MIRT1015747	hsa-miR-4738-5p	CLIP-seq
MIRT1015748	hsa-miR-570	CLIP-seq
MIRT2000730	hsa-miR-1267	CLIP-seq
MIRT2000731	hsa-miR-4275	CLIP-seq
MIRT2000732	hsa-miR-4287	CLIP-seq
MIRT2000733	hsa-miR-4652-3p	CLIP-seq
MIRT2000734	hsa-miR-4685-3p	CLIP-seq
MIRT2000735	hsa-miR-4778-5p	CLIP-seq
MIRT2000736	hsa-miR-488	CLIP-seq
MIRT2000737	hsa-miR-653	CLIP-seq
MIRT2234210	hsa-miR-3183	CLIP-seq
MIRT2234211	hsa-miR-4723-3p	CLIP-seq
MIRT2450164	hsa-miR-1224-3p	CLIP-seq
MIRT2450165	hsa-miR-296-5p	CLIP-seq
MIRT2234210	hsa-miR-3183	CLIP-seq
MIRT2450166	hsa-miR-3184	CLIP-seq
MIRT2450167	hsa-miR-423-5p	CLIP-seq
MIRT2450168	hsa-miR-4688	CLIP-seq
MIRT2234211	hsa-miR-4723-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	IDA	32737436
GO:0001656	Process	Metanephros development	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	18586671
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	ISS
GO:0008083	Function	Growth factor activity	IEA
GO:0010631	Process	Epithelial cell migration	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	16049014
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IMP	26643732
GO:0032924	Process	Activin receptor signaling pathway	IDA	16049014
GO:0035788	Process	Cell migration involved in metanephros development	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16049014
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	16049014
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	26643732
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1900745	Process	Positive regulation of p38MAPK cascade	ISS
GO:1990009	Process	Retinal cell apoptotic process	ISS

Other IDs

• MIM: 601147
• HGNC: 4221
• e!Ensembl: ENSG00000156466

Protein

• UniProt ID: Q6KF10
• Protein name: Growth/differentiation factor 6 (GDF-6) (Bone morphogenetic protein 13) (BMP-13) (Growth/differentiation factor 16)
• Protein function: Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and con
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	64 → 281	TGF-beta propeptide	Family
  PF00019	TGF_beta	353 → 454	Transforming growth factor beta like domain	Domain

• Sequence:

  MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDA
  GREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQS
  SKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPP
  AGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGEL
  DAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSA
  EAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLH
  VNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCC
  VPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR

• Sequence length: 455

Pathways

KEGG:

Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway

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
Klippel-Feil syndrome 1, autosomal dominant	Likely pathogenic	rs2130205786	RCV002226947	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 17	Pathogenic	rs1401531865	RCV000054425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple synostoses syndrome 4	Pathogenic	rs1554571213	RCV000585781	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autosomal dominant Parkinson disease 8	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT PALATE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS MICROPHTHALMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CYSTIC EYEBALL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GDF6-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated microphthalmia 4	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL FEIL SYNDROME DOMINANT TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel-Feil syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia, isolated, with coloboma 6	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MICROPHTHALMIA/COLOBOMA 6	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSES SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	22049084, 25416513		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24618041	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	17236135, 22049084		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	LHGDN	17236135		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	21203406	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold-Chiari Malformation, Type I	Arnold-Chiari malformation	BEFREE	23620759		★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	29466784		★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37446238	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colobomatous microphthalmia	Microphthalmia With Coloboma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32407802	Associate	★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	24859618		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital torticollis	Congenital Torticollis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	BEFREE	18425797		★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	25416513		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	25457163	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	29460012, 30177520		★☆☆☆☆ Found in Text Mining only
Isolated Klippel-Feil syndrome	Isolated Klippel-Feil Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Jarcho-Levin syndrome	Jarcho-Levin Syndrome	BEFREE	19129173		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Klippel-Feil Syndrome	Klippel Feil syndrome	BEFREE	18425797, 19864492, 23620759, 26238661		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Klippel-Feil Syndrome	Klippel Feil syndrome	LHGDN	18425797		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Klippel-Feil Syndrome	Klippel Feil syndrome	ORPHANET_DG	18425797		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Klippel-Feil Syndrome	Klippel Feil syndrome	CTD_human_DG	18425797		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Klippel-Feil Syndrome	Klippel Feil syndrome	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Klippel-Feil Syndrome	Klippel Feil syndrome	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	Klippel Feil syndrome	GENOMICS_ENGLAND_DG	17236135, 18425797, 19129173, 23307924, 3065353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	Klippel Feil syndrome	BEFREE	18425797, 23620759, 9880643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	Klippel Feil syndrome	UNIPROT_DG	18425797, 19129173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	Klippel Feil syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	Klippel Feil syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	23307924		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	23307924, 25685757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS 17	Leber Congenital Amaurosis	UNIPROT_DG	23307924		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS 17	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG	23307924		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS 17	Leber Congenital Amaurosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS 17	Leber Congenital Amaurosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular Degeneration	Macular degeneration	Pubtator	25416513	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29202482		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED 4 (disorder)	Microphthalmia	GENOMICS_ENGLAND_DG	17236135, 19129173, 23307924		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED 4 (disorder)	Microphthalmia	UNIPROT_DG	19129173, 24033328		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED 4 (disorder)	Microphthalmia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED 4 (disorder)	Microphthalmia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6	Microphthalmia With Coloboma	GENOMICS_ENGLAND_DG	17236135		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6	Microphthalmia With Coloboma	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6	Microphthalmia With Coloboma	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microphthalmos	Microphthalmos	BEFREE	17236135, 21070663, 22049084		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	Pubtator	25457163	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mirror movements disorder	Mirror Movements	BEFREE	18425797		★☆☆☆☆ Found in Text Mining only
MULTIPLE SYNOSTOSES SYNDROME 4	Multiple Synostoses Syndrome	GENOMICS_ENGLAND_DG	18425797		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE SYNOSTOSES SYNDROME 4	Multiple Synostoses Syndrome	CLINVAR_DG	26643732		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE SYNOSTOSES SYNDROME 4	Multiple Synostoses Syndrome	UNIPROT_DG	26643732, 29130651		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE SYNOSTOSES SYNDROME 4	Multiple Synostoses Syndrome	BEFREE	29130651		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple synostosis syndrome	Multiple Synostoses Syndrome	BEFREE	29130651		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	34319658	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20844932		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	29715509		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	29130651		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	Pubtator	34573339	Associate	★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	30680957	Inhibit	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	23307924		★☆☆☆☆ Found in Text Mining only
Sacral agenesis	Sacral Agenesis	GENOMICS_ENGLAND_DG	3065353		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	BEFREE	22719993		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	20844932		★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	20844932		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	20844932		★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	35280443	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only