NOG (noggin)

Gene

• Entrez ID: 9241
• Gene name: Noggin
• Gene symbol: NOG
• Synonyms (NCBI Gene): SYM1, SYNS1, SYNS1A
• Chromosome: 17
• Chromosome location: 17q22
• Summary: The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937580	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894602	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894603	T>G	Pathogenic	Missense variant, coding sequence variant
rs104894608	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894609	G>T	Pathogenic	Missense variant, coding sequence variant
rs104894610	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104894611	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894612	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894613	T>A	Pathogenic	Stop gained, coding sequence variant
rs104894614	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894615	G>C	Pathogenic	Missense variant, coding sequence variant
rs121908948	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs121908949	C>G	Pathogenic	Coding sequence variant, missense variant
rs387906844	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1064796941	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1567745111	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567745119	G>A	Pathogenic	Stop gained, coding sequence variant
rs1597919829	->G	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT288330	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT288330	hsa-miR-200c-3p	qRT-PCR	23294929
MIRT2283671	hsa-miR-101	CLIP-seq
MIRT2283672	hsa-miR-144	CLIP-seq
MIRT2283673	hsa-miR-181a	CLIP-seq
MIRT2283674	hsa-miR-181b	CLIP-seq
MIRT2283675	hsa-miR-181c	CLIP-seq
MIRT2283676	hsa-miR-181d	CLIP-seq
MIRT2283677	hsa-miR-329	CLIP-seq
MIRT2283678	hsa-miR-362-3p	CLIP-seq
MIRT2283679	hsa-miR-3685	CLIP-seq
MIRT2283680	hsa-miR-3941	CLIP-seq
MIRT2283681	hsa-miR-4262	CLIP-seq
MIRT2283682	hsa-miR-4789-3p	CLIP-seq
MIRT2283683	hsa-miR-4789-5p	CLIP-seq
MIRT2283684	hsa-miR-603	CLIP-seq
MIRT2283685	hsa-miR-936	CLIP-seq

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:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	TAS	10080184
GO:0001649	Process	Osteoblast differentiation	IBA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS	10780858
GO:0001655	Process	Urogenital system development	IEA
GO:0001657	Process	Ureteric bud development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001706	Process	Endoderm formation	IEA
GO:0001707	Process	Mesoderm formation	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	IEA
GO:0001837	Process	Epithelial to mesenchymal transition	ISS	10780858
GO:0001839	Process	Neural plate morphogenesis	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	ISS
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0005515	Function	Protein binding	IPI	19804412, 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	IDA	7666191, 11562478
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	10080184
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007399	Process	Nervous system development	TAS	7666191
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007492	Process	Endoderm development	IEA
GO:0007498	Process	Mesoderm development	IDA	8752214
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008542	Process	Visual learning	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0009953	Process	Dorsal/ventral pattern formation	IDA	7666191
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0019838	Function	Growth factor binding	IPI	8752214
GO:0021510	Process	Spinal cord development	IEA
GO:0021533	Process	Cell differentiation in hindbrain	IMP	8582276
GO:0021915	Process	Neural tube development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021999	Process	Neural plate anterior/posterior regionalization	IMP	8582276
GO:0030154	Process	Cell differentiation	IEA
GO:0030336	Process	Negative regulation of cell migration	IDA	20675382
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030510	Process	Regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IBA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IDA	8752214, 10780858, 15539560
GO:0030514	Process	Negative regulation of BMP signaling pathway	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IMP	17889703
GO:0035640	Process	Exploration behavior	IEA
GO:0038092	Process	Nodal signaling pathway	IMP	8582276
GO:0040036	Process	Regulation of fibroblast growth factor receptor signaling pathway	IMP	8582276
GO:0042060	Process	Wound healing	IEA
GO:0042060	Process	Wound healing	ISS	10780858
GO:0042474	Process	Middle ear morphogenesis	IMP	10080184
GO:0042733	Process	Embryonic digit morphogenesis	IMP	10080184
GO:0042803	Function	Protein homodimerization activity	IDA	11562478
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	IDA	20675382
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048168	Process	Regulation of neuronal synaptic plasticity	IEA
GO:0048318	Process	Axial mesoderm development	IEA
GO:0048562	Process	Embryonic organ morphogenesis	IEA
GO:0048570	Process	Notochord morphogenesis	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048706	Process	Embryonic skeletal system development	IMP	10080184
GO:0048712	Process	Negative regulation of astrocyte differentiation	IEA
GO:0048712	Process	Negative regulation of astrocyte differentiation	ISS	10780858
GO:0048762	Process	Mesenchymal cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	ISS
GO:0060044	Process	Negative regulation of cardiac muscle cell proliferation	IEA
GO:0060044	Process	Negative regulation of cardiac muscle cell proliferation	ISS	10780858
GO:0060173	Process	Limb development	IMP	10080184
GO:0060272	Process	Embryonic skeletal joint morphogenesis	IMP	16151340
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0060392	Process	Negative regulation of SMAD protein signal transduction	IDA	15539560
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060425	Process	Lung morphogenesis	IEA
GO:0060513	Process	Prostatic bud formation	IEA
GO:0060676	Process	Ureteric bud formation	IEA
GO:0061037	Process	Negative regulation of cartilage development	IEA
GO:0061053	Process	Somite development	IEA
GO:0061384	Process	Heart trabecula morphogenesis	IEA
GO:0061384	Process	Heart trabecula morphogenesis	ISS
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0062044	Process	Negative regulation of cardiac epithelial to mesenchymal transition	IEA
GO:0062044	Process	Negative regulation of cardiac epithelial to mesenchymal transition	ISS
GO:0071773	Process	Cellular response to BMP stimulus	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	15539560
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0090193	Process	Positive regulation of glomerulus development	IEA
GO:0090193	Process	Positive regulation of glomerulus development	ISS
GO:0098793	Component	Presynapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IEA
GO:0141069	Function	Receptor ligand inhibitor activity	IDA	8752214
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1990926	Process	Short-term synaptic potentiation	IEA
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 602991
• HGNC: 7866
• e!Ensembl: ENSG00000183691

Protein

• UniProt ID: Q13253
• Protein name: Noggin
• Protein function: Inhibitor of bone morphogenetic proteins (BMP) signaling which is required for growth and patterning of the neural tube and somite. Essential for cartilage morphogenesis and joint formation. Inhibits chondrocyte differentiation through its inter
• PDB: 1M4U, 7AG0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05806	Noggin	12 → 232		Family

• Sequence:

  MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKD
  LNETLLRSLLGGHYDPGFMATSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEI
  KGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYAWNDLGSRFWPRYVKVGSCFS
  KRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC

• Sequence length: 232

Pathways

KEGG:

TGF-beta signaling pathway

Reactome:

Signaling by BMP

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
Brachydactyly type B2	Likely pathogenic; Pathogenic	rs1328705140, rs121908949, rs28937580	RCV001730032 RCV000007092 RCV000007094 RCV000007100	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NOG-related disorder	Pathogenic; Likely pathogenic	rs2145567621, rs2545137863, rs121908949, rs2545137784	RCV001842239 RCV004529273 RCV004542632 RCV004531924	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NOG-related-symphlangism spectrum disorder	Pathogenic	rs1354515769	RCV001528101	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proximal symphalangism 1A	Likely pathogenic; Pathogenic	rs2145567535, rs104894602, rs121908948, rs104894608, rs104894609, rs104894611, rs104894612, rs104894613, rs28937580, rs1567745111	RCV001526526 RCV000007079 RCV000007080 RCV000007082 RCV000007083 RCV000049267 RCV000007089 RCV000007090 RCV000007093 RCV000735694	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stapes ankylosis with broad thumbs and toes	Pathogenic; Likely pathogenic	rs28937580, rs104894614, rs749247710, rs2545137857, rs2545137910	RCV000579390 RCV000007096 RCV000007097 RCV003884004 RCV004585122	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Symphalangism-brachydactyly syndrome	Pathogenic	rs104894603, rs2145567008, rs1567745119, rs104894615, rs745356934, rs387906844, rs1597919829	RCV000007081 RCV000007091 RCV000007098 RCV000007099 RCV004557231 RCV000023225 RCV001027730	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tarsal-carpal coalition syndrome	Likely pathogenic; Pathogenic	rs104894602, rs104894610, rs104894611	RCV000007087 RCV000007084 RCV000007085	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYDACTYLY, TYPE B2	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEFT UPPER LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLETE UNILATERAL CLEFT LIP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING'S SYMPHALANGISM	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIMELIA OF LIMB NOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSES SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSES SYNDROME 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired cubitus valgus	Cubitus valgus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	27044813		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	23733874, 28075522		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	22683258		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	26413886, 31024000		★☆☆☆☆ Found in Text Mining only
Ankylosis	Ankylosis	Pubtator	32791904	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosis of the elbow joint	Elbow ankylosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos with limb anomalies	Anophthalmia	Pubtator	23361222	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Disease	Aortic valve disease	Pubtator	23483047	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	33463122	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30760287		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	BEFREE	30665323		★☆☆☆☆ Found in Text Mining only
beta^+^ Thalassemia	beta Thalassemia	BEFREE	30665323		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	22672897		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	21249149	Inhibit	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	22547073, 23799295	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	22529972		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly Type B1	Brachydactyly	Pubtator	17668388	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly type B2	Brachydactyly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BRACHYDACTYLY, TYPE A2	Brachydactyly	BEFREE	16127465		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B1	Brachydactyly	BEFREE	17668388, 18440889, 22529972		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B1	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B2 (disorder)	Brachydactyly	UNIPROT_DG	17668388		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B2 (disorder)	Brachydactyly	GENOMICS_ENGLAND_DG	17668388		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B2 (disorder)	Brachydactyly	ORPHANET_DG	17668388		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B2 (disorder)	Brachydactyly	BEFREE	24954533, 26211601, 28523267		★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B2 (disorder)	Brachydactyly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
BRACHYDACTYLY, TYPE B2 (disorder)	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain infarction	Pubtator	36529041	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22547073, 31211147		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22547073, 30850363	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	34954251	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21885439		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	BEFREE	17668388		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	36529041	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30760287		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	28478981		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	31262291, 34242216	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	26827654		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23638973, 34526059, 34841646	Associate	★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	BEFREE	12089654, 18983945, 24735539, 26474326		★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital conductive hearing loss	Congenital conductive hearing impairment	BEFREE	18096605		★☆☆☆☆ Found in Text Mining only
Congenital dislocation of radial head	Dislocated radial head	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	27983534	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	12687003, 19627528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing's symphalangism	Proximal symphalangism	Pubtator	11545688, 12089654, 14753748, 15066478, 31370824, 31694554, 32478388, 7557985	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	29487310		★☆☆☆☆ Found in Text Mining only
Cutaneous syndactyly of toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	31694554, 32791904, 33308208	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27769098		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	30609838	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33308208	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29943307		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29943307		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29943307		★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	30833574		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	18983945, 22083168		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal atresia	Pubtator	22083168	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal atresia with or without tracheoesophageal fistula	Tracheoesophageal fistula	BEFREE	22083168		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22364398		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22364398		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22364398	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30467685		★☆☆☆☆ Found in Text Mining only
Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	BEFREE	11076054, 11503156, 15959366, 22529972		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	31694554	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	27293372	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27391353		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27391353		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18492260, 25808628	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25808628		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	29151581, 30033102		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25815513	Associate	★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	28253550		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	31694554	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Conductive	Conductive hearing loss	Pubtator	12089654, 23361222, 26474326, 32478388, 34049328	Associate	★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	20104603, 22503063		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	22503063	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	LHGDN	12089654		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	Pubtator	12089654	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	BEFREE	18983945, 21538686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperostosis Diffuse Idiopathic Skeletal	Diffuse idiopathic skeletal hyperostosis	Pubtator	37156767	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	36529041	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16769910, 27324164		★☆☆☆☆ Found in Text Mining only
Hypoplasia of lower limb	Hypoplasia Of Lower Limb	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20336693	Stimulate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	18560367, 27044813, 29491256, 29719609, 29967760, 30033102, 31211147		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26827654		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	25815513		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	39519354	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29407213		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15189984		★☆☆☆☆ Found in Text Mining only
Klippel-Feil Syndrome	Klippel Feil syndrome	BEFREE	15959366		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16875930		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22547073, 31211147		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22364398		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21885439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17200191, 17644136, 25338524, 28981962		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17200191, 22364398, 22672897		★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	18440889		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18560367		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	18560367	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28955032, 31081549		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	20042463	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	20679527	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22517906, 30663654		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30609838		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30609838	Associate	★☆☆☆☆ 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	UNIPROT_DG	10080184, 20503332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostoses syndrome 1	Multiple Synostoses Syndrome	BEFREE	11562478, 12089654, 22288654		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostoses syndrome 1	Multiple Synostoses Syndrome	GENOMICS_ENGLAND_DG	17668388		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostoses syndrome 1	Multiple Synostoses Syndrome	ORPHANET_DG	20503332, 25241334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostoses syndrome 1	Multiple Synostoses Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostoses syndrome 1	Multiple Synostoses Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SYNOSTOSES SYNDROME 2	Multiple Synostoses Syndrome	BEFREE	24098149		★☆☆☆☆ Found in Text Mining only
Multiple synostosis syndrome	Multiple Synostoses Syndrome	BEFREE	10080184, 11562478, 11846737, 12089654, 16532400, 18449926, 22288654, 24735539, 25241334, 25391606, 25888563		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostosis syndrome	Multiple Synostoses Syndrome	ORPHANET_DG	20503332, 25241334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple synostosis syndrome	Multiple Synostoses Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	20940052		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	17889703, 31270105		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	17889703		★☆☆☆☆ Found in Text Mining only
Myositis Ossificans	Myositis Ossificans	LHGDN	18019378		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12819188, 16995812, 17696196, 19700758, 19773112, 22547073, 24042462, 24475161, 26861458, 26996130, 28055955, 2812779, 28981962, 29487310, 30053332, 30943039, 30972853, 31622618		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	12404109, 12420790		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27391353		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30467685		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	22351751, 31027994		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	26738566		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic atrophy	Pubtator	26738566	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	27769098		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	BEFREE	19167531, 30665323		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	12089654, 16168495, 22288654, 24170657		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	Pubtator	12089654	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	15066478		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	GENOMICS_ENGLAND_DG	15066478		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40571310	Associate	★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	29719609		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	15066478		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	17889703, 31270105		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	17889703		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17200191, 17644136, 25338524, 28981962		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18931653		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18931653	Associate	★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	BEFREE	31138930		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	27293372	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	17696196		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	LHGDN	17696196		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	22984568	Associate	★☆☆☆☆ Found in Text Mining only
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	28478981		★☆☆☆☆ Found in Text Mining only
Sclerosteosis	Sclerosteosis	BEFREE	22364398		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31698994	Associate	★☆☆☆☆ Found in Text Mining only
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)	Teunissen Cremers syndrome	ORPHANET_DG	12089654		★☆☆☆☆ Found in Text Mining only
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)	Teunissen Cremers syndrome	GENOMICS_ENGLAND_DG	17668388		★☆☆☆☆ Found in Text Mining only
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)	Teunissen Cremers syndrome	BEFREE	18440889, 19471170, 24735539, 25391606, 26211601		★☆☆☆☆ Found in Text Mining only
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)	Teunissen Cremers syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)	Teunissen Cremers syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stapes ankylosis with broad thumbs and toes	Stapes Ankylosis With Broad Thumb And Toes	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Steatohepatitis	Fatty Liver	BEFREE	30467685		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34001012	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30760287, 31391037	Associate	★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	BEFREE	10080184, 11545688, 11562478, 11846737, 12089654, 15066478, 16957682, 17994231, 18096605, 18440889, 19471170, 21538686, 22288654, 24326127, 24735539, 25391606, 25888563, 26211601, 31370824, 31694554, 7557985		★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	ORPHANET_DG	11846737, 24326127		★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	HPO_DG			★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL	Proximal symphalangism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1A	Symphalangism	UNIPROT_DG	10080184, 11846737, 11857750, 15770128		★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1A	Symphalangism	BEFREE	11545688, 11562478, 12089654, 16957682, 22288654, 24326127, 24735539, 25391606, 26211601, 31105738, 31370824		★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1A	Symphalangism	GENOMICS_ENGLAND_DG	17668388		★☆☆☆☆ Found in Text Mining only
SYMPHALANGISM, PROXIMAL, 1A	Symphalangism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Symphalangism-brachydactyly syndrome	Symphalangism-Brachydactyly Syndrome	BEFREE	16151340, 20503332, 26994744		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Symphalangism-brachydactyly syndrome	Symphalangism-Brachydactyly Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Syndactyly	Syndactyly	BEFREE	12089654, 16127465, 18983945, 21358557, 22288654, 23361222, 25391606, 25888563, 26474326, 29605356, 29771958		★☆☆☆☆ 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
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	11545688, 21538686, 24735539, 25815513, 25888563, 25899082, 26211601		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	UNIPROT_DG	11545688		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	ORPHANET_DG	11545688, 21538686		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tarsal-carpal coalition syndrome	Tarsal-Carpal Coalition Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	GENOMICS_ENGLAND_DG	17668388		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Teratoma	Teratoma	BEFREE	29487310		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23826422	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	16769910		★☆☆☆☆ Found in Text Mining only