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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Cohen syndrome
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Accession:DOID:0111590 term browser browse the term
Definition:A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. (DO)
Synonyms:exact_synonym: CHS1;   COH;   COH1;   Norio syndrome;   Pepper syndrome;   VPS13B-RELATED CONDITION;   hypotonia, obesity, and prominent incisors;   obesity-hypotonia syndrome;   prominent incisors-obesity-hypotonia syndrome;   trapped neutrophil syndrome
 primary_id: MESH:C536438
 alt_id: OMIA:001428;   OMIM:216550
 xref: GARD:6126;   ORDO:193


show annotations for term's descendants           Sort by:
Cohen syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD46 ankyrin repeat domain 46 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,384,007...2,415,187
Ensembl chr13:2,385,611...2,498,364 		JBrowse link
G ATP6V1C1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,509,699...4,569,500
Ensembl chr13:4,510,003...4,579,846 		JBrowse link
G AZIN1 antizyme inhibitor 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,363,996...4,396,069
Ensembl chr13:4,361,340...4,396,040 		JBrowse link
G BAALC BAALC binder of MAP3K1 and KLF4 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,602,688...4,684,138
Ensembl chr13:4,603,020...4,682,189 		JBrowse link
G CTHRC1 collagen triple helix repeat containing 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,801,049...4,811,565
Ensembl chr13:4,805,577...4,811,282 		JBrowse link
G DCAF13 DDB1 and CUL4 associated factor 13 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,835,147...4,860,706
Ensembl chr13:4,834,958...4,860,247 		JBrowse link
G DCSTAMP dendrocyte expressed seven transmembrane protein ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:5,542,474...5,559,433
Ensembl chr13:5,542,425...5,571,968 		JBrowse link
G DPYS dihydropyrimidinase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:5,583,795...5,659,355
Ensembl chr13:5,583,801...5,659,463 		JBrowse link
G FBXO43 F-box protein 43 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,037,270...2,057,465
Ensembl chr13:2,038,408...2,052,741 		JBrowse link
G FZD6 frizzled class receptor 6 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,732,541...4,771,294
Ensembl chr13:4,733,017...4,772,115 		JBrowse link
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:3,204,898...3,362,533
Ensembl chr13:3,204,925...3,362,096 		JBrowse link
G KCNS2 potassium voltage-gated channel modifier subfamily S member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:622,676...628,301
Ensembl chr13:623,424...624,857 		JBrowse link
G KLF10 KLF transcription factor 10 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,216,745...4,223,708
Ensembl chr13:4,218,084...4,223,691 		JBrowse link
G LRP12 LDL receptor related protein 12 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:5,670,932...5,754,076
Ensembl chr13:5,674,649...5,744,740 		JBrowse link
G MIR599 microRNA mir-599 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:28492532 NCBI chr13:1,538,928...1,539,022
Ensembl chr13:1,538,928...1,539,022 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G NCALD neurocalcin delta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:3,367,036...3,678,505
Ensembl chr13:3,369,570...3,512,566 		JBrowse link
G NIPAL2 NIPA like domain containing 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:427,216...493,861
Ensembl chr13:428,752...493,817 		JBrowse link
G ODF1 outer dense fiber of sperm tails 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,137,119...4,146,557
Ensembl chr13:4,137,257...4,146,555 		JBrowse link
G OSR2 odd-skipped related transciption factor 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:1,019,167...1,031,622
Ensembl chr13:1,023,879...1,031,225 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,563,698...2,580,610
Ensembl chr13:2,564,065...2,580,368 		JBrowse link
G POLR2K RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,057,540...2,060,712
Ensembl chr13:2,057,628...2,060,312 		JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:361,095...398,214
Ensembl chr13:361,157...396,628 		JBrowse link
G RGS22 regulator of G protein signaling 22 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:1,897,525...2,026,622
Ensembl chr13:1,864,010...2,010,594 		JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,928,518...5,499,258
Ensembl chr13:4,927,121...5,496,629 		JBrowse link
G RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,142,126...2,170,530
Ensembl chr13:2,142,876...2,169,944 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934 		JBrowse link
G SLC25A32 solute carrier family 25 member 32 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:4,821,065...4,835,113
Ensembl chr13:4,648,759...4,835,023 		JBrowse link
G SNX31 sorting nexin 31 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,425,143...2,497,798
Ensembl chr13:2,385,611...2,498,364 		JBrowse link
G SPAG1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr13:2,065,726...2,127,199 JBrowse link
G STK3 serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:647,363...920,887
Ensembl chr13:648,216...920,847 		JBrowse link
G UBR5 ubiquitin protein ligase E3 component n-recognin 5 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:3,887,408...4,023,364
Ensembl chr13:3,879,220...4,023,955 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO
IAGP		 Trapped Neutrophil Syndrome
ClinVar Annotator: match by term: Cohen syndrome | ClinVar Annotator: match by term: VPS13B-related condition		 OMIM
OMIA
ClinVar		 PMID:9536098 PMID:11169562 PMID:12730828 PMID:15141358 PMID:15154116 More... NCBI chr13:1,101,226...1,834,933
Ensembl chr13:1,101,610...1,871,225 		JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,729,404...2,764,422 JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:6,435,368...6,796,903
Ensembl chr13:6,336,794...6,796,322 		JBrowse link
G ZNF706 zinc finger protein 706 ISO ClinVar Annotator: match by term: Cohen syndrome ClinVar PMID:28492532 NCBI chr13:2,967,884...2,978,040
Ensembl chr13:2,969,983...2,976,279 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Cohen syndrome 36
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal dominant disease 6137
                complex cortical dysplasia with other brain malformations 1587
                  Malformations of Cortical Development, Group I 1368
                    microcephaly 1121
                      Cohen syndrome 36
paths to the root