PedAM
Pediatric Disease Annotations & Medicines
| cohen syndrome | ||||
| Disease ID | 401 |
|---|---|
| Disease | cohen syndrome |
| Definition | Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is a genetic disorder. - NORD Reference: NORD |
| Synonym | chs1, formerly coh coh1 cohen syndrome (disorder) cohen's syndrome cohens syndrome hypotonia, obesity, and prominent incisors norio syndrome obesity-hypotonia syndrome pepper syndrome prominent incisors-obesity-hypotonia syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0265223 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) VPS13B | 8q22.2 |
| Disease ID | 401 |
|---|---|
| Disease | cohen syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:64) HP:0002808 | Kyphosis HP:0000407 | Sensorineural hearing impairment HP:0011308 | Slender toe HP:0000492 | Abnormality of the eyelid HP:0000294 | Low anterior hairline HP:0000384 | Preauricular skin tag HP:0000499 | Abnormality of the eyelashes HP:0001000 | Abnormality of skin pigmentation HP:0000823 | Delayed puberty HP:0000426 | Prominent nasal bridge HP:0009804 | Reduced number of teeth HP:0000194 | Open mouth HP:0000164 | Abnormality of the teeth HP:0001263 | Global developmental delay HP:0006101 | Finger syndactyly HP:0001629 | Ventricular septal defect HP:0005692 | Joint hyperflexibility HP:0004322 | Short stature HP:0000545 | Myopia HP:0000347 | Micrognathia HP:0001612 | Weak cry HP:0000767 | Pectus excavatum HP:0000486 | Strabismus HP:0001250 | Seizures HP:0001572 | Macrodontia HP:0004209 | Clinodactyly of the 5th finger HP:0000612 | Iris coloboma HP:0001135 | Chorioretinal dystrophy HP:0001166 | Arachnodactyly HP:0001252 | Muscular hypotonia HP:0100874 | Thick hair HP:0000574 | Thick eyebrow HP:0001513 | Obesity HP:0002705 | High, narrow palate HP:0200046 | Cat cry HP:0002967 | Cubitus valgus HP:0004283 | Narrow palm HP:0000028 | Cryptorchidism HP:0001531 | Failure to thrive in infancy HP:0002167 | Neurological speech impairment HP:0010295 | Aplasia/Hypoplasia of the tongue HP:0002857 | Genu valgum HP:0010669 | Cheekbone underdevelopment HP:0001852 | Sandal gap HP:0000322 | Short philtrum HP:0007703 | Abnormality of retinal pigmentation HP:0000639 | Nystagmus HP:0009906 | Aplasia/Hypoplasia of the earlobes HP:0001511 | Intrauterine growth retardation HP:0002650 | Scoliosis HP:0000494 | Downslanted palpebral fissures HP:0000212 | Gingival overgrowth HP:0001875 | Neutropenia HP:0008872 | Feeding difficulties in infancy HP:0001558 | Decreased fetal movement HP:0000252 | Microcephaly HP:0000527 | Long eyelashes HP:0000648 | Optic atrophy HP:0001182 | Tapered finger HP:0001249 | Intellectual disability HP:0001634 | Mitral valve prolapse HP:0000327 | Hypoplasia of the maxilla HP:0000568 | Microphthalmia HP:0003272 | Abnormality of the hip bone |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001956 | Centripetal obesity | 1 HP:0002751 | Kyphoscoliosis | 1 HP:0001513 | Obesity | 1 HP:0000556 | Retinal dystrophy | 1 HP:0001249 | Mental retardation | 1 HP:0100813 | Testicular torsion | 1 |
| Disease ID | 401 |
|---|---|
| Disease | cohen syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:97) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs120074149 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99717219 | T | G |
| rs120074150 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99720973 | C | T |
| rs120074151 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511275 | G | T |
| rs120074152 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99384294 | C | T |
| rs120074153 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99784394 | G | A |
| rs120074154 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99854202 | C | T |
| rs120074155 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99818473 | T | C |
| rs140353201 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99467566 | C | T |
| rs140936527 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99274273 | C | A |
| rs180177327 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99442538 | CT | - |
| rs180177329 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99823832 | - | T |
| rs180177356 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99156609 | C | T |
| rs180177357 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99275160 | - | GCTC |
| rs180177358 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99384318 | GT | - |
| rs180177359 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99556508 | - | AAT |
| rs180177360 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99556552 | G | A |
| rs180177362 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99577553 | AGTGTGGCTCAAGTTCAA | - |
| rs180177363 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99641942 | - | AG |
| rs180177364 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99641976 | - | C |
| rs180177366 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99717374 | G | A |
| rs180177374 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99875504 | - | C |
| rs28940272 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99820031 | A | G |
| rs28940272 | 15141358 | 157680 | VPS13B | umls:C0265223 | UNIPROT | By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria (Cohen-like syndrome). | 0.485971721 | 2004 | VPS13B | 8 | 99820031 | A | G |
| rs386834054 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99848834 | CA | - |
| rs386834055 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99853470 | - | A |
| rs386834056 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99854155 | TCTC | - |
| rs386834057 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99859307 | G | A |
| rs386834058 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99861781 | C | - |
| rs386834059 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99861828 | - | GGAC |
| rs386834060 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99861872 | G | A |
| rs386834061 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99868312 | C | T |
| rs386834062 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99870822 | A | - |
| rs386834063 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99870873 | - | T |
| rs386834064 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99870881 | A | - |
| rs386834065 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99871475 | A | - |
| rs386834066 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99871572 | AGTG | - |
| rs386834067 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99871657 | CAGTG | AA,AGAA |
| rs386834068 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99875424 | - | ATG |
| rs386834069 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99875503 | CCAGCTGTTC | - |
| rs386834070 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99134644 | C | T |
| rs386834071 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99134650 | G | T |
| rs386834072 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99134694 | ATTGT | - |
| rs386834073 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99147839 | A | G |
| rs386834074 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99156582 | C | - |
| rs386834075 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99038494 | AC | T |
| rs386834076 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375666 | 8 | 99013810 | CC | A |
| rs386834077 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99275080 | G | A |
| rs386834078 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99384272 | G | A |
| rs386834079 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99096310 | A | G |
| rs386834080 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99442617 | C | T |
| rs386834081 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99467586 | T | A |
| rs386834082 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99467636 | T | C |
| rs386834083 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99096424 | - | T |
| rs386834084 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511138 | A | - |
| rs386834085 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511200 | - | A |
| rs386834086 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511215 | C | T |
| rs386834087 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511278 | A | - |
| rs386834088 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511284 | CTT | - |
| rs386834089 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99511376 | - | A |
| rs386834090 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99103007 | ATAA | - |
| rs386834091 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99521012 | T | C |
| rs386834093 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99575719 | C | T |
| rs386834094 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99641846 | - | T |
| rs386834095 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642128 | - | T |
| rs386834096 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642252 | - | A |
| rs386834097 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642265 | C | - |
| rs386834098 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642324 | AT | - |
| rs386834099 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642342 | C | T |
| rs386834100 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99111143 | CA | - |
| rs386834101 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99699823 | GA | - |
| rs386834102 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99717328 | A | - |
| rs386834103 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99720343 | A | G |
| rs386834104 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99720944 | A | G |
| rs386834105 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99766869 | G | - |
| rs386834106 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99776957 | G | A |
| rs386834107 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99778780 | C | T |
| rs386834108 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99778787 | G | A |
| rs386834109 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B;LOC105375663 | 8 | 99784396 | C | - |
| rs386834110 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99809477 | C | T |
| rs386834111 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99817708 | C | - |
| rs386834112 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99818486 | G | A |
| rs386834113 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99818529 | C | T |
| rs386834114 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99818803 | A | - |
| rs386834115 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99819410 | A | G |
| rs386834116 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99819403 | A | G |
| rs386834117 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99115853 | GA | - |
| rs386834119 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99832368 | G | C,T |
| rs386834120 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99835195 | A | G |
| rs386834121 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99835213 | T | - |
| rs386834122 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99835238 | A | - |
| rs587777381 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99642500 | - | T |
| rs587777382 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99859482 | T | C |
| rs727504219 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99819998 | T | A |
| rs786204456 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99875503 | CCAGCTGTTCT | G |
| rs786204533 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99641849 | - | T |
| rs794727771 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99868451 | C | G |
| rs797046098 | NA | 157680 | VPS13B | umls:C0265223 | CLINVAR | NA | 0.485971721 | NA | VPS13B | 8 | 99820043 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000545 | Myopia | MP:0010659 | abdominal aorta aneurysm;HP:0001913 | Granulocytopenia |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |