eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| kleefstra syndrome | ||||
| Disease ID | 1297 |
|---|---|
| Disease | kleefstra syndrome |
| Synonym | 9q subtelomeric deletion syndrome 9q- syndrome 9q34.3 deletion syndrome 9q34.3 microdeletion syndrome chromosome 9q34.3 deletion syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0795833 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:21) 546 | ATRX | 1.825 | DISEASES 6792 | CDKL5 | 2.394 | DISEASES 1565 | CYP2D6 | 1.315 | DISEASES 1804 | DPP6 | 2.937 | DISEASES 79813 | EHMT1 | 7.92 | DISEASES 10919 | EHMT2 | 4.012 | DISEASES 2049 | EPHB3 | 3.12 | DISEASES 2081 | ERN1 | 2.301 | DISEASES 2290 | FOXG1 | 2.275 | DISEASES 57459 | GATAD2B | 4.289 | DISEASES 55733 | HHAT | 2.651 | DISEASES 55777 | MBD5 | 3.676 | DISEASES 4204 | MECP2 | 1.408 | DISEASES 4205 | MEF2A | 2.207 | DISEASES 4208 | MEF2C | 2.302 | DISEASES 9970 | NR1I3 | 2.333 | DISEASES 860 | RUNX2 | 1.219 | DISEASES 10479 | SLC9A6 | 3.141 | DISEASES 84679 | SLC9A7 | 3.394 | DISEASES 7337 | UBE3A | 1.971 | DISEASES 51385 | ZNF589 | 5 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1297 |
|---|---|
| Disease | kleefstra syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0001252 | Hypotonia HP:0001249 | Mental retardation HP:0001627 | Congenital heart defects HP:0000252 | Small head circumference HP:0003196 | Short nose HP:0010808 | Lingual prolapse HP:0000463 | Nostrils anteverted HP:0011800 | Midface, flat HP:0000664 | Unibrow |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1297 |
|---|---|
| Disease | kleefstra syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 9q34 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
| EHMT1 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:16) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918301 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1;LOC105376330 | 9 | 137818100 | C | T |
| rs137852714 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137743418 | C | T |
| rs137852715 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137757923 | GGCACCAGGAGAC | - |
| rs137852716 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1;EHMT1-IT1 | 9 | 137762706 | AGAC | - |
| rs137852717 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137776636 | C | T |
| rs137852718 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137776684 | C | A,T |
| rs137852720 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137779634 | G | C |
| rs137852721 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137811611 | GT | - |
| rs137852722 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137813005 | G | A |
| rs137852724 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137813531 | G | T |
| rs137852725 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1;LOC105376330 | 9 | 137814479 | C | T |
| rs137852726 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1;LOC105376330 | 9 | 137814468 | G | A |
| rs137852727 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1;LOC105376330 | 9 | 137834397 | C | T |
| rs786205128 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137777891 | - | G |
| rs786205129 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137813015 | TTCT | - |
| rs797045043 | NA | 79813 | EHMT1 | umls:C0795833 | CLINVAR | NA | 0.442171535 | NA | EHMT1 | 9 | 137716931 | G | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001627 | Abnormal heart morphology | MP:0004251 | failure of heart looping | failure of the primitive heart tube to loop asymmetrically during early development |
| HP:0010808 | Protruding tongue | MP:0000762 | abnormal tongue morphology | any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0011800 | Hypoplasia of midface | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0011800 | Hypoplasia of midface | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001627 | Abnormal heart morphology | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010808 | Protruding tongue | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| Disease ID | 1297 |
|---|---|
| Disease | kleefstra syndrome |
| Case | (Waiting for update.) |