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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56975
Gene name	FAM20C golgi associated secretory pathway kinase
Gene symbol	FAM20C
Synonyms (NCBI Gene)	DMP-4DMP4G-CKGEF-CKRNS
Chromosome	7
Chromosome location	7p22.3
Summary	This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148276213	T>A,C	Likely-pathogenic, benign, likely-benign	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs267606795	G>C	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs373614292	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs730882220	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs796051849	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs796051850	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs796051851	C>G	Pathogenic	Intron variant, genic downstream transcript variant
rs796051852	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs796051853	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs796051854	G>C	Pathogenic	Intron variant, genic downstream transcript variant
rs796051855	G>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs796051874	T>A,C	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs796051875	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, intron variant
rs797044462	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant

150

Show/Hide all (150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049711	hsa-miR-92a-3p	CLASH	23622248
MIRT984111	hsa-miR-1205	CLIP-seq
MIRT984112	hsa-miR-1286	CLIP-seq
MIRT984113	hsa-miR-1323	CLIP-seq
MIRT984114	hsa-miR-1972	CLIP-seq
MIRT984115	hsa-miR-2276	CLIP-seq
MIRT984116	hsa-miR-3173-5p	CLIP-seq
MIRT984117	hsa-miR-3177-5p	CLIP-seq
MIRT984118	hsa-miR-3194-5p	CLIP-seq
MIRT984119	hsa-miR-3691-3p	CLIP-seq
MIRT984120	hsa-miR-3974	CLIP-seq
MIRT984121	hsa-miR-4325	CLIP-seq
MIRT984122	hsa-miR-4480	CLIP-seq
MIRT984123	hsa-miR-4642	CLIP-seq
MIRT984124	hsa-miR-4690-3p	CLIP-seq
MIRT984125	hsa-miR-4722-5p	CLIP-seq
MIRT984126	hsa-miR-4772-3p	CLIP-seq
MIRT984127	hsa-miR-509-3p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT984130	hsa-miR-548o	CLIP-seq
MIRT984131	hsa-miR-593	CLIP-seq
MIRT1991718	hsa-miR-1247	CLIP-seq
MIRT984121	hsa-miR-4325	CLIP-seq
MIRT1991719	hsa-miR-4420	CLIP-seq
MIRT1991720	hsa-miR-4427	CLIP-seq
MIRT1991721	hsa-miR-4452	CLIP-seq
MIRT1991722	hsa-miR-4660	CLIP-seq
MIRT1991723	hsa-miR-4680-3p	CLIP-seq
MIRT1991724	hsa-miR-4722-3p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT1991725	hsa-miR-646	CLIP-seq
MIRT1991726	hsa-miR-885-3p	CLIP-seq
MIRT984112	hsa-miR-1286	CLIP-seq
MIRT984113	hsa-miR-1323	CLIP-seq
MIRT984115	hsa-miR-2276	CLIP-seq
MIRT984120	hsa-miR-3974	CLIP-seq
MIRT984121	hsa-miR-4325	CLIP-seq
MIRT984124	hsa-miR-4690-3p	CLIP-seq
MIRT2225771	hsa-miR-4691-5p	CLIP-seq
MIRT984126	hsa-miR-4772-3p	CLIP-seq
MIRT2225772	hsa-miR-4800-3p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT2225773	hsa-miR-548aa	CLIP-seq
MIRT984130	hsa-miR-548o	CLIP-seq
MIRT1991718	hsa-miR-1247	CLIP-seq
MIRT984119	hsa-miR-3691-3p	CLIP-seq
MIRT2437150	hsa-miR-4290	CLIP-seq
MIRT2437151	hsa-miR-4428	CLIP-seq
MIRT2437152	hsa-miR-4476	CLIP-seq
MIRT984122	hsa-miR-4480	CLIP-seq
MIRT2437153	hsa-miR-4533	CLIP-seq
MIRT2437154	hsa-miR-4537	CLIP-seq
MIRT2437155	hsa-miR-4687-5p	CLIP-seq
MIRT2437156	hsa-miR-4738-5p	CLIP-seq
MIRT2437157	hsa-miR-665	CLIP-seq
MIRT2437158	hsa-miR-766	CLIP-seq
MIRT2437159	hsa-miR-767-5p	CLIP-seq
MIRT2465266	hsa-miR-1226	CLIP-seq
MIRT2437156	hsa-miR-4738-5p	CLIP-seq
MIRT2225772	hsa-miR-4800-3p	CLIP-seq
MIRT984111	hsa-miR-1205	CLIP-seq
MIRT1991718	hsa-miR-1247	CLIP-seq
MIRT2529559	hsa-miR-1281	CLIP-seq
MIRT984112	hsa-miR-1286	CLIP-seq
MIRT984113	hsa-miR-1323	CLIP-seq
MIRT2529560	hsa-miR-1914	CLIP-seq
MIRT984114	hsa-miR-1972	CLIP-seq
MIRT984115	hsa-miR-2276	CLIP-seq
MIRT2529561	hsa-miR-3150a-3p	CLIP-seq
MIRT2529562	hsa-miR-3175	CLIP-seq
MIRT984118	hsa-miR-3194-5p	CLIP-seq
MIRT2529563	hsa-miR-3657	CLIP-seq
MIRT2529564	hsa-miR-3661	CLIP-seq
MIRT2529565	hsa-miR-3688-5p	CLIP-seq
MIRT984119	hsa-miR-3691-3p	CLIP-seq
MIRT2529566	hsa-miR-3692	CLIP-seq
MIRT984120	hsa-miR-3974	CLIP-seq
MIRT1991719	hsa-miR-4420	CLIP-seq
MIRT1991720	hsa-miR-4427	CLIP-seq
MIRT1991721	hsa-miR-4452	CLIP-seq
MIRT984122	hsa-miR-4480	CLIP-seq
MIRT1991722	hsa-miR-4660	CLIP-seq
MIRT2529567	hsa-miR-4667-5p	CLIP-seq
MIRT2529568	hsa-miR-4669	CLIP-seq
MIRT1991723	hsa-miR-4680-3p	CLIP-seq
MIRT984124	hsa-miR-4690-3p	CLIP-seq
MIRT2225771	hsa-miR-4691-5p	CLIP-seq
MIRT2529569	hsa-miR-4698	CLIP-seq
MIRT2529570	hsa-miR-4700-5p	CLIP-seq
MIRT2529571	hsa-miR-4712-3p	CLIP-seq
MIRT1991724	hsa-miR-4722-3p	CLIP-seq
MIRT2529572	hsa-miR-4767	CLIP-seq
MIRT984126	hsa-miR-4772-3p	CLIP-seq
MIRT2529573	hsa-miR-4786-5p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT984130	hsa-miR-548o	CLIP-seq
MIRT2529574	hsa-miR-631	CLIP-seq
MIRT1991725	hsa-miR-646	CLIP-seq
MIRT2529575	hsa-miR-676	CLIP-seq
MIRT2437159	hsa-miR-767-5p	CLIP-seq
MIRT2529576	hsa-miR-769-5p	CLIP-seq
MIRT1991726	hsa-miR-885-3p	CLIP-seq
MIRT2529577	hsa-miR-939	CLIP-seq
MIRT984111	hsa-miR-1205	CLIP-seq
MIRT1991718	hsa-miR-1247	CLIP-seq
MIRT2529559	hsa-miR-1281	CLIP-seq
MIRT984112	hsa-miR-1286	CLIP-seq
MIRT984113	hsa-miR-1323	CLIP-seq
MIRT2529560	hsa-miR-1914	CLIP-seq
MIRT984114	hsa-miR-1972	CLIP-seq
MIRT984115	hsa-miR-2276	CLIP-seq
MIRT2529561	hsa-miR-3150a-3p	CLIP-seq
MIRT2529562	hsa-miR-3175	CLIP-seq
MIRT2529563	hsa-miR-3657	CLIP-seq
MIRT2529564	hsa-miR-3661	CLIP-seq
MIRT2529565	hsa-miR-3688-5p	CLIP-seq
MIRT984119	hsa-miR-3691-3p	CLIP-seq
MIRT2529566	hsa-miR-3692	CLIP-seq
MIRT984120	hsa-miR-3974	CLIP-seq
MIRT1991719	hsa-miR-4420	CLIP-seq
MIRT1991720	hsa-miR-4427	CLIP-seq
MIRT1991721	hsa-miR-4452	CLIP-seq
MIRT984122	hsa-miR-4480	CLIP-seq
MIRT1991722	hsa-miR-4660	CLIP-seq
MIRT2529567	hsa-miR-4667-5p	CLIP-seq
MIRT2529568	hsa-miR-4669	CLIP-seq
MIRT1991723	hsa-miR-4680-3p	CLIP-seq
MIRT2225771	hsa-miR-4691-5p	CLIP-seq
MIRT2529569	hsa-miR-4698	CLIP-seq
MIRT2529570	hsa-miR-4700-5p	CLIP-seq
MIRT2529571	hsa-miR-4712-3p	CLIP-seq
MIRT1991724	hsa-miR-4722-3p	CLIP-seq
MIRT2529572	hsa-miR-4767	CLIP-seq
MIRT984126	hsa-miR-4772-3p	CLIP-seq
MIRT2529573	hsa-miR-4786-5p	CLIP-seq
MIRT984128	hsa-miR-518a-5p	CLIP-seq
MIRT984129	hsa-miR-527	CLIP-seq
MIRT2225773	hsa-miR-548aa	CLIP-seq
MIRT984130	hsa-miR-548o	CLIP-seq
MIRT2529574	hsa-miR-631	CLIP-seq
MIRT1991725	hsa-miR-646	CLIP-seq
MIRT2529575	hsa-miR-676	CLIP-seq
MIRT2437159	hsa-miR-767-5p	CLIP-seq
MIRT2529576	hsa-miR-769-5p	CLIP-seq
MIRT1991726	hsa-miR-885-3p	CLIP-seq
MIRT2529577	hsa-miR-939	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	34349020
GO:0000139	Component	Golgi membrane	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0002020	Function	Protease binding	IPI	34349020
GO:0004672	Function	Protein kinase activity	IDA	34349020
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	22582013, 23754375, 25789606, 26091039, 29858230
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	22582013, 25789606, 26091039, 34349020
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	22582013, 34349020
GO:0005615	Component	Extracellular space	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	22582013
GO:0005794	Component	Golgi apparatus	IEA
GO:0006468	Process	Protein phosphorylation	IDA	23754375, 25789606, 26091039
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030145	Function	Manganese ion binding	IDA	23754375
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0031214	Process	Biomineral tissue development	IEA
GO:0031214	Process	Biomineral tissue development	IMP	22582013, 25789606
GO:0036179	Process	Osteoclast maturation	IEA
GO:0040036	Process	Regulation of fibroblast growth factor receptor signaling pathway	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051174	Process	Regulation of phosphorus metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
GO:0070166	Process	Enamel mineralization	IBA
GO:0070166	Process	Enamel mineralization	IEA
GO:0071895	Process	Odontoblast differentiation	IEA
GO:0097187	Process	Dentinogenesis	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
611061	22140	ENSG00000177706

Q8IXL6

Protein name

Extracellular serine/threonine protein kinase FAM20C (EC 2.7.11.1) (Dentin matrix protein 4) (DMP-4) (Golgi casein kinase) (Golgi-enriched fraction casein kinase) (GEF-CK)

Protein function

Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the m

PDB

5YH3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06702	Fam20C	353 → 570	Golgi casein kinase, C-terminal, Fam20	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15676076}.

Sequence

MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGW
AQVRGRPGEPPAASSAAGDAGWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERA
LRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASLLARLFEHPLYRVAVPPLTEE
DVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFF
YFSDYERHNAEIAAFHLDRILDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANN
ICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKRKTWRNPWRRSYHKRKKAEWE
VDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQ
PHLEALDRRLRVVLKAVRDCVERNGLHSVVDDDLDTEHRAASAR

Sequence length

584

Interactions

View interactions

	Reactome
			Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic	rs730882220	RCV000162130	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cortical dysplasia	Likely pathogenic	rs730882220	RCV000162130	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FAM20C-related disorder	Likely pathogenic; Pathogenic	rs2534735106, rs2534710256, rs1785701540, rs1461947497, rs909478150	RCV003418716 RCV003429066 RCV003903976 RCV003983685 RCV003966889	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lethal osteosclerotic bone dysplasia	Pathogenic; Likely pathogenic	rs267606795, rs796051849, rs796051851, rs796051852, rs796051853, rs796051854, rs796051855, rs2115171312, rs1331889066, rs1461947497, rs2534738114, rs2115173146, rs796051874, rs797044462	RCV000001078 RCV000001079 RCV000001081 RCV000001082 RCV000001083 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal death	Likely pathogenic	rs730882220	RCV000162130	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe brain malformation	Likely pathogenic	rs730882220	RCV000162130	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypophosphataemia or rickets	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (83)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	24045431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	BEFREE	27862258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	28298625		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amelogenesis imperfecta local hypoplastic form	Amelogenesis Imperfecta	BEFREE	25928877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	25928877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30203787		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	14711010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	14711010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28437655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28437655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	34539672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Developmental	Bone disease	Pubtator	37240249	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	20825432, 22582013, 24196488, 31297960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	32093234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	23325605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17665180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of mandible	Mandibular aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	24039075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30227272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23759948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniosynostoses	Craniosynostosis	Pubtator	27862258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	18562218		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	BEFREE	30644343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28927401, 29072367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28927401, 29072367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29373286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	30531428, 30684944, 31849045		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28396294, 28910805, 29336029, 30850259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	22615579, 23325605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34539672	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32386320, 33306121, 36708808	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	28784772		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30227272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28437655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28437655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	22615579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32031203	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22442342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lethal osteosclerotic bone dysplasia	Osteosclerotic Bone Dysplasia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26723502, 27531051, 28097376, 28845981		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30352021		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	25936777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27113542, 28236661		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24587312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomalacia	Osteomalacia	BEFREE	27862258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	23325605, 24039075, 25928877, 30151622		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	23325605, 25928877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32093234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	28298625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	28437655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	31163364		★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RAINE SYNDROME	RAINE SYNDROME	GENOMICS_ENGLAND_DG	10826619, 17924334, 19250384, 20825432, 25974638, 27862258		★★★★★ ★☆☆☆☆ Found in Text Mining only
RAINE SYNDROME	RAINE SYNDROME	BEFREE	17924334, 19250384, 20825432, 22582013, 22615579, 22900076, 24039075, 24982027, 25026495, 25928877, 25974638, 27862258, 28620244, 29751744, 30151622, 31297960, 31471673, 31541016 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
RAINE SYNDROME	RAINE SYNDROME	UNIPROT_DG	17924334, 22582013, 25789606		★★★★★ ★☆☆☆☆ Found in Text Mining only
RAINE SYNDROME	RAINE SYNDROME	ORPHANET_DG	25019372		★★★★★ ★☆☆☆☆ Found in Text Mining only
RAINE SYNDROME	RAINE SYNDROME	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
RAINE SYNDROME	RAINE SYNDROME	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23759948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	9788898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	23325605, 26543054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30644343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28304355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	30531428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33306121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	38067435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27113542		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33306121	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D-Resistant Rickets, X-Linked	Vitamin D-Dependent Rickets	BEFREE	23325605		★★★★★ ★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	30864273		★★★★★ ★☆☆☆☆ Found in Text Mining only

FAM20C (FAM20C golgi associated secretory pathway kinase)