DYM (dymeclin)

Gene

• Entrez ID: 54808
• Gene name: Dymeclin
• Gene symbol: DYM
• Synonyms (NCBI Gene): DMC, SMC
• Chromosome: 18
• Chromosome location: 18q21.1
• Summary: This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs120074161	G>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs120074162	A>G,T	Pathogenic	Intron variant, synonymous variant, stop gained, coding sequence variant, non coding transcript variant
rs120074163	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs120074165	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs146000214	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs148059981	C>T	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs150849326	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs201652921	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs557407004	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs763380940	G>A,C,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained, missense variant
rs768509996	G>A	Pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs771414481	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs775414124	T>C	Pathogenic	Intron variant, splice acceptor variant
rs775696326	T>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant
rs786205511	C>T	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs786205512	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs786205513	G>C	Likely-pathogenic	Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs794727290	A>-	Pathogenic	Non coding transcript variant, frameshift variant, 5 prime UTR variant, coding sequence variant
rs1568119124	C>T	Pathogenic	Splice acceptor variant
rs1568264929	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs1568319747	T>C	Pathogenic	Splice acceptor variant, intron variant
rs1600192503	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT036569	hsa-miR-941	CLASH	23622248
MIRT668654	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT668653	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT668652	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT668651	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT668650	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668649	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT668648	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT668647	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT668646	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT668645	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT668644	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT668643	hsa-miR-507	HITS-CLIP	23824327
MIRT668642	hsa-miR-557	HITS-CLIP	23824327
MIRT668641	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT668640	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT668654	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT668653	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT668652	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT668651	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT668650	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668649	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT668648	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT668647	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT668646	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT668645	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT668644	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT668643	hsa-miR-507	HITS-CLIP	23824327
MIRT668642	hsa-miR-557	HITS-CLIP	23824327
MIRT668641	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT668640	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT948803	hsa-miR-1238	CLIP-seq
MIRT948804	hsa-miR-4682	CLIP-seq
MIRT2216239	hsa-miR-29a	CLIP-seq
MIRT2216240	hsa-miR-29b	CLIP-seq
MIRT2216241	hsa-miR-29c	CLIP-seq
MIRT2216242	hsa-miR-515-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21280149
GO:0005737	Component	Cytoplasm	IDA	21280149
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	21280149
GO:0005794	Component	Golgi apparatus	IEA
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IMP	21280149
GO:0016020	Component	Membrane	IEA
GO:0019899	Function	Enzyme binding	IPI	21280149
GO:0060348	Process	Bone development	IMP	21280149

Other IDs

• MIM: 607461
• HGNC: 21317
• e!Ensembl: ENSG00000141627

Protein

• UniProt ID: Q7RTS9
• Protein name: Dymeclin (Dyggve-Melchior-Clausen syndrome protein)
• Protein function: Necessary for correct organization of Golgi apparatus. Involved in bone development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09742	Dymeclin	1 → 646		Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder an
• Sequence:

  MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISV
  CRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQ
  MSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMV
  VFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQS
  DGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDA
  PNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNS
  NIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILK
  NITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQY
  AAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIIN
  SCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSV
  ERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQD
  IQLFTMDSD

• Sequence length: 669

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
Dyggve-Melchior-Clausen syndrome	Pathogenic; Likely pathogenic	rs767767037, rs2087482291, rs2087496511, rs2087498329, rs2095000244, rs2063332964, rs2148459355, rs2074694091, rs2147362866, rs2517730377, rs120074161, rs1568264929, rs120074162, rs120074163, rs1568119124, rs1471488189, rs1568319747, rs786205511, rs775414124, rs752868357, rs2094993424, rs201540129, rs2524201617, rs2514909662, rs768509996, rs1600192503, rs2145537667, rs567638775, rs780873164	RCV001328005 RCV001352909 RCV001352908 RCV001352905 RCV001352911 RCV001352910 RCV001391227 RCV002250771 RCV002227914 RCV002281596 RCV000003334 RCV000003335 RCV000003336 RCV000003337 RCV000003341 RCV000003342 RCV000003343 RCV003987403 RCV000003339 RCV003326703 RCV003493995 RCV003494001 RCV003340804 RCV004577077 RCV001591181 RCV001004617 RCV001358802 RCV001262584 RCV001280803	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYM-related disorder	Pathogenic; Likely pathogenic	rs120074164, rs567638775	RCV004758589 RCV004035398	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Smith-McCort dysplasia 1	Likely pathogenic; Pathogenic	rs120074162, rs120074164, rs120074165, rs775414124	RCV002482820 RCV000003340 RCV000003344 RCV000003338	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS LEISHMANIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYGGVE-MELCHIOR-CLAUSEN DISEASE	—	Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYM-Related Skeletal Dysplasia Syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Smith-McCort dysplasia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaplasia	Anaplasia	BEFREE	16151017, 31346526		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	12757356		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31440377		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27470516, 29562638, 29875324		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	19690384, 31440377		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27470516, 29562638, 29875324		★☆☆☆☆ Found in Text Mining only
Atlantoaxial instability	Atlantoaxial abnormality	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	16783171		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29482985		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	19690384		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16239970		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	29562638		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27812542		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	18996922		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26790473		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	20846217		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	20846217	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31317850		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	23905641		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	37836571	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	23905641		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	18996921		★☆☆☆☆ Found in Text Mining only
Dyggve-Melchior-Clausen disease	Dyggve-Melchior-Clausen Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyggve-Melchior-Clausen syndrome	Dyggve-Melchior-Clausen Disease	ORPHANET_DG	12491225, 12554689, 18996921, 21280149		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyggve-Melchior-Clausen syndrome	Dyggve-Melchior-Clausen Disease	UNIPROT_DG	12491225, 12554689, 18996921		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyggve-Melchior-Clausen syndrome	Dyggve-Melchior-Clausen Disease	BEFREE	12554689, 15726110, 16470731, 18852472, 18996921, 20555340, 25652408, 28127940		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyggve-Melchior-Clausen syndrome	Dyggve-Melchior-Clausen Disease	GENOMICS_ENGLAND_DG	16097008		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyggve-Melchior-Clausen syndrome	Dyggve-Melchior-Clausen Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyggve-Melchior-Clausen syndrome	Dyggve-Melchior-Clausen Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyslexia	Dyslexia	BEFREE	21060895		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	21060895	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	19134193		★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION	Encephalopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30009775		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30009775		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30009775		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	20846217	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	23905641		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	29277324		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23905641, 25076856, 28360864, 29694892, 30972165		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	11602621, 18382765		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	11602621		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15726110, 25652408, 28127940		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	15726110	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26568194		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28737823, 30089216		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19690384		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29482985		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30076727		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28737823, 29370184, 30076727		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15726110		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29875324		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25652408		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monocytosis	Monocytosis	BEFREE	29875324		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	9128751		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28511709		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	LHGDN	12491225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	15353504		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31317850		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30076727		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29909778		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20555340, 29909778		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	PSYGENET_DG	20555340		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	17082387		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	18996921		★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	BEFREE	30707337		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31346526		★☆☆☆☆ Found in Text Mining only
SMITH-MCCORT DYSPLASIA	Smith-McCort Dysplasia	ORPHANET_DG	12491225, 15464420		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Smith-McCort dysplasia	Smith-McCort Dysplasia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SMITH-MCCORT DYSPLASIA	Smith-McCort Dysplasia	BEFREE	18852472, 28127940		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SMITH-MCCORT DYSPLASIA	Smith-McCort Dysplasia	GENOMICS_ENGLAND_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SMITH-MCCORT DYSPLASIA	Smith-McCort Dysplasia	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	UNIPROT_DG	12491225, 18996921, 19005420		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	GENOMICS_ENGLAND_DG	16097008		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	BEFREE	16470731, 27693241, 28062493, 28562688, 30121256		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMITH-MCCORT DYSPLASIA 1	Smith-McCort Dysplasia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spade-like hand	Spade-Like Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	15726110, 25652408		★☆☆☆☆ Found in Text Mining only
Sweet Syndrome	Sweet Syndrome	BEFREE	30707337		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	30707337		★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	BEFREE	28747676		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35769470	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	35380061	Associate	★☆☆☆☆ Found in Text Mining only
X-linked Dyggve-Melchior-Clausen syndrome	Dyggve-Melchior-Clausen Syndrome X-Linked	CTD_human_DG			★☆☆☆☆ Found in Text Mining only