DCHS1 (dachsous cadherin-related 1)

Gene

• Entrez ID: 8642
• Gene name: Dachsous cadherin-related 1
• Gene symbol: DCHS1
• Synonyms (NCBI Gene): CDH19, CDH25, CDHR6, FIB1, MMVP2, MVP2, PCDH16, VMLDS1
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family me

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141243126	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs146434035	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs150354113	G>C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs184586428	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199544459	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201457110	C>T	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs369091875	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs483352917	C>A	Pathogenic	Stop gained, coding sequence variant
rs483352918	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs483352919	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs768737101	G>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1974350	hsa-miR-1207-5p	CLIP-seq
MIRT1974351	hsa-miR-4763-3p	CLIP-seq
MIRT1974350	hsa-miR-1207-5p	CLIP-seq
MIRT2209802	hsa-miR-1285	CLIP-seq
MIRT2209803	hsa-miR-138	CLIP-seq
MIRT2209804	hsa-miR-183	CLIP-seq
MIRT2209805	hsa-miR-1909	CLIP-seq
MIRT2209806	hsa-miR-3187-5p	CLIP-seq
MIRT2209807	hsa-miR-3614-5p	CLIP-seq
MIRT2209808	hsa-miR-378g	CLIP-seq
MIRT2209809	hsa-miR-4314	CLIP-seq
MIRT2209810	hsa-miR-4486	CLIP-seq
MIRT2209811	hsa-miR-4688	CLIP-seq
MIRT1974351	hsa-miR-4763-3p	CLIP-seq
MIRT2209812	hsa-miR-548q	CLIP-seq
MIRT2209813	hsa-miR-612	CLIP-seq
MIRT2209814	hsa-miR-659	CLIP-seq
MIRT2448078	hsa-miR-223	CLIP-seq
MIRT2448079	hsa-miR-28-5p	CLIP-seq
MIRT2448080	hsa-miR-3139	CLIP-seq
MIRT2448081	hsa-miR-4487	CLIP-seq
MIRT2448082	hsa-miR-4697-3p	CLIP-seq
MIRT2448083	hsa-miR-708	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEA
GO:0001822	Process	Kidney development	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003174	Process	Mitral valve development	IEA
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003183	Process	Mitral valve morphogenesis	IEA
GO:0003192	Process	Mitral valve formation	IMP	26258302
GO:0003273	Process	Cell migration involved in endocardial cushion formation	IMP	26258302
GO:0005509	Function	Calcium ion binding	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IEA
GO:0007157	Process	Heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	ISS
GO:0007389	Process	Pattern specification process	IEA
GO:0008013	Function	Beta-catenin binding	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	9199196
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	9199196
GO:0016342	Component	Catenin complex	IBA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IEA
GO:0016477	Process	Cell migration	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	ISS
GO:0032185	Process	Septin cytoskeleton organization	IEA
GO:0035329	Process	Hippo signaling	IEA
GO:0035329	Process	Hippo signaling	ISS
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0043931	Process	Ossification involved in bone maturation	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045296	Function	Cadherin binding	IBA
GO:0048565	Process	Digestive tract development	IEA
GO:0048729	Process	Tissue morphogenesis	IEA
GO:0072006	Process	Nephron development	IEA
GO:0072137	Process	Condensed mesenchymal cell proliferation	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA

Other IDs

• MIM: 603057
• HGNC: 13681
• e!Ensembl: ENSG00000166341

Protein

• UniProt ID: Q96JQ0
• Protein name: Protocadherin-16 (Cadherin-19) (Cadherin-25) (Fibroblast cadherin-1) (Protein dachsous homolog 1)
• Protein function: Calcium-dependent cell-adhesion protein. Mediates functions in neuroprogenitor cell proliferation and differentiation. In the heart, has a critical role for proper morphogenesis of the mitral valve, acting in the regulation of cell migration inv
• PDB: 8EGW, 8EGX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00028	Cadherin	149 → 246	Cadherin domain	Domain
  PF00028	Cadherin	260 → 353	Cadherin domain	Domain
  PF00028	Cadherin	372 → 463	Cadherin domain	Domain
  PF00028	Cadherin	479 → 569	Cadherin domain	Domain
  PF00028	Cadherin	583 → 675	Cadherin domain	Domain
  PF00028	Cadherin	690 → 781	Cadherin domain	Domain
  PF00028	Cadherin	795 → 885	Cadherin domain	Domain
  PF00028	Cadherin	900 → 989	Cadherin domain	Domain
  PF00028	Cadherin	1005 → 1096	Cadherin domain	Domain
  PF00028	Cadherin	1111 → 1202	Cadherin domain	Domain
  PF00028	Cadherin	1222 → 1312	Cadherin domain	Domain
  PF00028	Cadherin	1442 → 1537	Cadherin domain	Domain
  PF00028	Cadherin	1550 → 1640	Cadherin domain	Domain
  PF00028	Cadherin	1654 → 1742	Cadherin domain	Domain
  PF00028	Cadherin	1756 → 1846	Cadherin domain	Domain
  PF00028	Cadherin	1860 → 1951	Cadherin domain	Domain
  PF00028	Cadherin	2073 → 2162	Cadherin domain	Domain
  PF00028	Cadherin	2176 → 2268	Cadherin domain	Domain
  PF00028	Cadherin	2282 → 2367	Cadherin domain	Domain
  PF00028	Cadherin	2381 → 2473	Cadherin domain	Domain
  PF00028	Cadherin	2487 → 2593	Cadherin domain	Domain
  PF00028	Cadherin	2607 → 2697	Cadherin domain	Domain
  PF00028	Cadherin	2711 → 2804	Cadherin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in fibroblasts but not in melanocytes or keratinocytes. {ECO:0000269|PubMed:9199196}.
• Sequence:

  MQKELGIVPSCPGMKSPRPHLLLPLLLLLLLLLGAGVPGAWGQAGSLDLQIDEEQPAGTL
  IGDISAGLPAGTAAPLMYFISAQEGSGVGTDLAIDEHSGVVRTARVLDREQRDRYRFTAV
  TPDGATVEVTVRVADINDHAPAFPQARAALQVPEHTAFGTRYPLEPARDADAGRLGTQGY
  ALSGDGAGETFRLETRPGPDGTPVPELVVTGELDRENRSHYMLQLEAYDGGSPPRRAQAL
  LDVTLLDINDHAPAFNQSRYHAVVSESLAPGSPVLQVFASDADAGVNGAVTYEINRRQSE
  GDGPFSIDAHTGLLQLERPLDFEQRRVHELVVQARDGGAHPELGSAFVTVHVRDANDNQP
  SMTVIFLSADGSPQVSEAAPPGQLVARISVSDPDDGDFAHVNVSLEGGEGHFALSTQDSV
  IYLVCVARRLDREERDAYNLRVTATDSGSPPLRAEAAFVLHVTDVNDNAPAFDRQLYRPE
  PLPEVALPGSFVVRVTARDPDQGTNGQVTYSLAPGAHTHWFSIDPTSGIITTAASLDYEL
  EPQPQLIVVATDGGLPPLASSATVSVALQDVNDNEPQFQRTFYNASLPEGTQPGTCFLQV
  TATDADSGPFGLLSYSLGAGLGSSGSPPFRIDAHSGDVCTTRTLDRDQGPSSFDFTVTAV
  DGGGLKSMVYVKVFLSDENDNPPQFYPREYAASISAQSPPGTAVLRLRAHDPDQGSHGRL
  SYHILAGNSPPLFTLDEQSGLLTVAWPLARRANSVVQLEIGAEDGGGLQAEPSARVDISI
  VPGTPTPPIFEQLQYVFSVPEDVAPGTSVGIVQAHNPPGRLAPVTLSLSGGDPRGLFSLD
  AVSGLLQTLRPLDRELLGPVLELEVRAGSGVPPAFAVARVRVLLDDVNDNSPAFPAPEDT
  VLLPPNTAPGTPIYTLRALDPDSGVNSRVTFTLLAGGGGAFTVDPTTGHVRLMRPLGPSG
  GPAHELELEARDGGSPPRTSHFRLRVVVQDVGTRGLAPRFNSPTYRVDLPSGTTAGTQVL
  QVQAQAPDGGPITYHLAAEGASSPFGLEPQSGWLWVRAALDREAQELYILKVMAVSGSKA
  ELGQQTGTATVRVSILNQNEHSPRLSEDPTFLAVAENQPPGTSVGRVFATDRDSGPNGRL
  TYSLQQLSEDSKAFRIHPQTGEVTTLQTLDREQQSSYQLLVQVQDGGSPPRSTTGTVHVA
  VLDLNDNSPTFLQASGAAGGGLPIQVPDRVPPGTLVTTLQAKDPDEGENGTILYTLTGPG
  SELFSLHPHSGELLTAAPLIRAERPHYVLTLSAHDQGSPPRSASLQLLVQVLPSARLAEP
  PPDLAERDPAAPVPVVLTVTAAEGLRPGSLLGSVAAPEPAGVGALTYTLVGGADPEGTFA
  LDAASGRLYLARPLDFEAGPPWRALTVRAEGPGGAGARLLRVQVQVQDENEHAPAFARDP
  LALALPENPEPGAALYTFRASDADGPGPNSDVRYRLLRQEPPVPALRLDARTGALSAPRG
  LDRETTPALLLLVEATDRPANASRRRAARVSARVFVTDENDNAPVFASPSRVRLPEDQPP
  GPAALHVVARDPDLGEAARVSYRLASGGDGHFRLHSSTGALSVVRPLDREQRAEHVLTVV
  ASDHGSPPRSATQVLTVSVADVNDEAPTFQQQEYSVLLRENNPPGTSLLTLRATDPDVGA
  NGQVTYGGVSSESFSLDPDTGVLTTLRALDREEQEEINLTVYAQDRGSPPQLTHVTVRVA
  VEDENDHAPTFGSAHLSLEVPEGQDPQTLTMLRASDPDVGANGQLQYRILDGDPSGAFVL
  DLASGEFGTMRPLDREVEPAFQLRIEARDGGQPALSATLLLTVTVLDANDHAPAFPVPAY
  SVEVPEDVPAGTLLLQLQAHDPDAGANGHVTYYLGAGTAGAFLLEPSSGELRTAAALDRE
  QCPSYTFSVSAVDGAAAGPLSTTVSVTITVRDVNDHAPTFPTSPLRLRLPRPGPSFSTPT
  LALATLRAEDRDAGANASILYRLAGTPPPGTTVDSYTGEIRVARSPVALGPRDRVLFIVA
  TDLGRPARSATGVIIVGLQGEAERGPRFPRASSEATIRENAPPGTPIVSPRAVHAGGTNG
  PITYSILSGNEKGTFSIQPSTGAITVRSAEGLDFEVSPRLRLVLQAESGGAFAFTVLTLT
  LQDANDNAPRFLRPHYVAFLPESRPLEGPLLQVEADDLDQGSGGQISYSLAASQPARGLF
  HVDPTTGTITTTAILDREIWAETRLVLMATDRGSPALVGSATLTVMVIDTNDNRPTIPQP
  WELRVSEDALLGSEIAQVTGNDVDSGPVLWYVLSPSGPQDPFSVGRYGGRVSLTGPLDFE
  QCDRYQLQLLAHDGPHEGRANLTVLVEDVNDNAPAFSQSLYQVMLLEHTPPGSAILSVSA
  TDRDSGANGHISYHLASPADGFSVDPNNGTLFTIVGTVALGHDGSGAVDVVLEARDHGAP
  GRAARATVHVQLQDQNDHAPSFTLSHYRVAVTEDLPPGSTLLTLEATDADGSRSHAAVDY
  SIISGNWGRVFQLEPRLAEAGESAGPGPRALGCLVLLEPLDFESLTQYNLTVAAADRGQP
  PQSSVVPVTVTVLDVNDNPPVFTRASYRVTVPEDTPVGAELLHVEASDADPGPHGLVRFT
  VSSGDPSGLFELDESSGTLRLAHALDCETQARHQLVVQAADPAGAHFALAPVTIEVQDVN
  DHGPAFPLNLLSTSVAENQPPGTLVTTLHAIDGDAGAFGRLRYSLLEAGPGPEGREAFAL
  NSSTGELRARVPFDYEHTESFRLLVGAADAGNLSASVTVSVLVTGEDEYDPVFLAPAFHF
  QVPEGARRGHSLGHVQATDEDGGADGLVLYSLATSSPYFGINQTTGALYLRVDSRAPGSG
  TATSGGGGRTRREAPRELRLEVIARGPLPGSRSATVPVTVDITHTALGLAPDLNLLLVGA
  VAASLGVVVVLALAALVLGLVRARSRKAEAAPGPMSQAAPLASDSLQKLGREPPSPPPSE
  HLYHQTLPSYGGPGAGGPYPRGGSLDPSHSSGRGSAEAAEDDEIRMINEFPRVASVASSL
  AARGPDSGIQQDADGLSDTSCEPPAPDTWYKGRKAGLLLPGAGATLYREEGPPATATAFL
  GGCGLSPAPTGDYGFPADGKPCVAGALTAIVAGEEELRGSYNWDYLLSWCPQFQPLASVF
  TEIARLKDEARPCPPAPRIDPPPLITAVAHPGAKSVPPKPANTAAARAIFPPASHRSPIS
  HEGSLSSAAMSPSFSPSLSPLAARSPVVSPFGVAQGPSASALSAESGLEPPDDTELHI

• Sequence length: 3298

Pathways

KEGG:

Hippo signaling pathway - multiple species

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
Mitral valve prolapse, myxomatous 2	Pathogenic; Likely pathogenic	rs959285916, rs768737101	RCV001329124 RCV000201937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Van Maldergem syndrome 1	Pathogenic; Likely pathogenic	rs2134633746, rs2134634960, rs1318661642, rs2493843791, rs483352917, rs483352918, rs483352919	RCV001533165 RCV001548768 RCV002290411 RCV003223475 RCV000074481 RCV000074482 RCV000074483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROFACIOARTICULAR SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DCHS1-related congenital anomalies of the kidney and urinary tract	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DCHS1-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE 2	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAN MALDERGEM SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VAN MALDERGEM WETZBURGER VERLOES SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral choanal atresia/stenosis	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrofacioarticular syndrome	Cerebrofacioarticular Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Microtia	Congenital microtia	Pubtator	30691450	Associate	★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial mitral valve prolapse	Mitral Valve Prolapse	ORPHANET_DG	26258302		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25361488		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25361488		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heterotopia, Periventricular, Autosomal Recessive	Periventricular heterotopia	CTD_human_DG	24056717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33225636	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	33225636	Associate	★☆☆☆☆ Found in Text Mining only
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
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	12707861, 26846766, 29224215, 33225636	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	26258302, 29224215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE, MYXOMATOUS 2	Mitral Valve Prolapse	UNIPROT_DG	26258302		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITRAL VALVE PROLAPSE, MYXOMATOUS 2	Mitral Valve Prolapse	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITRAL VALVE PROLAPSE, MYXOMATOUS 2	Mitral Valve Prolapse	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periventricular gray matter heterotopia	Periventricular gray matter heterotopia	BEFREE	24056717		★☆☆☆☆ Found in Text Mining only
Periventricular gray matter heterotopia	Periventricular gray matter heterotopia	GENOMICS_ENGLAND_DG	24056717		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	29593499, 30858616		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	29165578		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35065254	Associate	★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thoracic Diseases	Thoracic disease	Pubtator	26846766	Associate	★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★☆☆☆☆ Found in Text Mining only
VAN MALDERGEM SYNDROME 1	Cerebrofacioarticular Syndrome	GENOMICS_ENGLAND_DG	24056717		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VAN MALDERGEM SYNDROME 1	Cerebrofacioarticular Syndrome	UNIPROT_DG	24056717		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VAN MALDERGEM SYNDROME 1	Cerebrofacioarticular Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Van Maldergem Wetzburger Verloes syndrome	Cerebrofacioarticular Syndrome	CTD_human_DG	24056717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Maldergem Wetzburger Verloes syndrome	Cerebrofacioarticular Syndrome	ORPHANET_DG	24056717		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Maldergem Wetzburger Verloes syndrome	Cerebrofacioarticular Syndrome	BEFREE	25930014, 31358536		★★☆☆☆ Found in Text Mining + Unknown/Other Associations