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	pitt-hopkins syndrome

Disease ID	1257
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	ORPHANET:2896
OMIM	OMIM:610954
DOID	DOID:0060488
UMLS	C1970431
SNOMED-CT	SNOMEDCT_US_2016_09_01:702344008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0025362 \| mental retardation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 26047 \| CNTNAP2 \| CTD_human 6925 \| TCF4 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 9378 \| NRXN1 \| CTD_human
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
Disease	pitt-hopkins syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:2) HP:0001249 \| Mental retardation \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1

Disease ID	1257
Disease	pitt-hopkins syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:27)
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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1257
Disease	pitt-hopkins syndrome
Case	(Waiting for update.)