pitt-hopkins syndrome |
Disease ID | 1257 |
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Disease | pitt-hopkins syndrome |
Synonym | encephalopathy, severe epileptic, with autonomic dysfunction mental retardation, syndromal, with intermittent hyperventilation pitt hopkins syndrome pitt-hopkins syndrome (disorder) pths pths - pitt-hopkins syndrome |
Orphanet | |
OMIM | |
DOID | |
UMLS | C1970431 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 103 | ADAR | 1.909 | DISEASES 546 | ATRX | 3.095 | DISEASES 655 | BMP7 | 1.379 | DISEASES 6792 | CDKL5 | 3.634 | DISEASES 84181 | CHD6 | 3.57 | DISEASES 1272 | CNTN1 | 2.712 | DISEASES 6900 | CNTN2 | 2.03 | DISEASES 26047 | CNTNAP2 | 4.58 | DISEASES 8450 | CUL4B | 2.879 | DISEASES 1736 | DKC1 | 2.072 | DISEASES 79813 | EHMT1 | 2.748 | DISEASES 2159 | F10 | 1.519 | DISEASES 2316 | FLNA | 1.117 | DISEASES 2290 | FOXG1 | 3.515 | DISEASES 3066 | HDAC2 | 1.481 | DISEASES 3665 | IRF7 | 1.896 | DISEASES 4000 | LMNA | 1.206 | DISEASES 55777 | MBD5 | 2.412 | DISEASES 4204 | MECP2 | 2.993 | DISEASES 4205 | MEF2A | 2.857 | DISEASES 4208 | MEF2C | 3.512 | DISEASES 9378 | NRXN1 | 4.514 | DISEASES 64324 | NSD1 | 2.092 | DISEASES 6336 | SCN10A | 2.334 | DISEASES 10479 | SLC9A6 | 3.791 | DISEASES 84679 | SLC9A7 | 4.044 | DISEASES 6689 | SPIB | 2.845 | DISEASES 6938 | TCF12 | 2.665 | DISEASES 6925 | TCF4 | 6.884 | DISEASES 7337 | UBE3A | 3.181 | DISEASES |
Locus | Symbol | Locus(Total Locus:1) TCF4 | 18q21.2 |
Disease ID | 1257 |
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Disease | pitt-hopkins syndrome |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
Disease ID | 1257 |
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Disease | pitt-hopkins syndrome |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:27) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121909120 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55228988 | G | A |
rs121909121 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55228987 | C | T |
rs121909122 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55254694 | G | A |
rs121909123 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55228993 | C | T,G |
rs398123560 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55257375 | C | T |
rs398123561 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55350391 | CTTT | - |
rs587784458 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55257314 | C | T |
rs587784459 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55232660 | C | A |
rs587784460 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55228985 | C | A |
rs587784462 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55228886 | C | G |
rs587784463 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55350958 | G | - |
rs587784464 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55350904 | G | A |
rs587784465 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55279550 | C | T,A |
rs587784466 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55275753 | C | G |
rs587784468 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55269962 | C | - |
rs587784469 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55261466 | C | T |
rs587784470 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55260029 | T | C |
rs727504174 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55234620 | C | - |
rs727504175 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55275660 | G | A |
rs727505396 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55234596 | G | A |
rs786200992 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55234676 | - | T |
rs797045003 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55261488 | G | A |
rs797045072 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55259948 | C | A |
rs797046033 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55234623 | G | A |
rs797046034 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55228855 | T | G |
rs797046035 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55228275 | - | G |
rs797046036 | NA | 6925 | TCF4 | umls:C1970431 | CLINVAR | NA | 0.487328931 | NA | TCF4 | 18 | 55279548 | - | AC |
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:0) |
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(Waiting for update.) |
Disease ID | 1257 |
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Disease | pitt-hopkins syndrome |
Case | (Waiting for update.) |