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encyclopedia of Rare Disease Annotation for Precision Medicine



   angelman syndrome
  

Disease ID 150
Disease angelman syndrome
Definition
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
Synonym
angelman syndrome (disorder)
angelman syndrome [disease/finding]
angelman's syndrome
angelman's syndromes
angelmans syndrome
children, puppet
happy puppet syndrome
happy puppet syndrome, formerly
puppet children
puppetlike syndrome
syndrome angelman
syndrome, angelman
syndrome, happy puppet
Orphanet
OMIM
DOID
UMLS
C0162635
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:5)
C0014544  |  epilepsy  |  4
C0025958  |  microcephaly  |  1
C0004352  |  autism  |  1
C0679466  |  cognitive deficits  |  1
C0025362  |  mental retardation  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:8)
4204  |  MECP2  |  CLINVAR;CTD_human
6792  |  CDKL5  |  CLINVAR;CTD_human
57194  |  ATP10A  |  UNIPROT
2562  |  GABRB3  |  CTD_human
4948  |  OCA2  |  GHR
23191  |  CYFIP1  |  UNIPROT
7337  |  UBE3A  |  CLINVAR;CTD_human;GHR;UNIPROT
282  |  ANCR  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:6)
10479  |  SLC9A6  |  CIPHER
7337  |  UBE3A  |  CIPHER;CTD_human
2562  |  GABRB3  |  CTD_human
4204  |  MECP2  |  CTD_human
6792  |  CDKL5  |  CTD_human
282  |  ANCR  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:114)
65985  |  AACS  |  1.724  |  DISEASES
23237  |  ARC  |  3.458  |  DISEASES
22899  |  ARHGEF15  |  2.693  |  DISEASES
5926  |  ARID4A  |  1.911  |  DISEASES
406  |  ARNTL  |  1.549  |  DISEASES
57194  |  ATP10A  |  4.708  |  DISEASES
546  |  ATRX  |  1.249  |  DISEASES
65250  |  C5orf42  |  1.618  |  DISEASES
6792  |  CDKL5  |  3.138  |  DISEASES
1028  |  CDKN1C  |  2.228  |  DISEASES
80254  |  CEP63  |  1.633  |  DISEASES
1139  |  CHRNA7  |  2.91  |  DISEASES
7464  |  CORO2A  |  3.513  |  DISEASES
30827  |  CXXC1  |  2.437  |  DISEASES
23191  |  CYFIP1  |  3.555  |  DISEASES
1641  |  DCX  |  1.233  |  DISEASES
28955  |  DEXI  |  2.08  |  DISEASES
1859  |  DYRK1A  |  1.645  |  DISEASES
79813  |  EHMT1  |  2.391  |  DISEASES
285220  |  EPHA6  |  2.181  |  DISEASES
2332  |  FMR1  |  2.306  |  DISEASES
2290  |  FOXG1  |  1.744  |  DISEASES
2558  |  GABRA5  |  5.32  |  DISEASES
2563  |  GABRD  |  1.933  |  DISEASES
2566  |  GABRG2  |  1.122  |  DISEASES
2567  |  GABRG3  |  4.574  |  DISEASES
2741  |  GLRA1  |  1.662  |  DISEASES
2778  |  GNAS  |  1.424  |  DISEASES
149775  |  GNAS-AS1  |  1.902  |  DISEASES
283685  |  GOLGA6L2  |  2.271  |  DISEASES
388585  |  HES5  |  1.266  |  DISEASES
3109  |  HLA-DMB  |  1.028  |  DISEASES
9456  |  HOMER1  |  1.32  |  DISEASES
3400  |  ID4  |  1.048  |  DISEASES
3481  |  IGF2  |  1.652  |  DISEASES
3482  |  IGF2R  |  1.624  |  DISEASES
3614  |  IMPDH1  |  1.368  |  DISEASES
3653  |  IPW  |  4.432  |  DISEASES
10984  |  KCNQ1OT1  |  2.639  |  DISEASES
4043  |  LRPAP1  |  1.138  |  DISEASES
338645  |  LUZP2  |  2.928  |  DISEASES
54551  |  MAGEL2  |  4.233  |  DISEASES
55777  |  MBD5  |  2.143  |  DISEASES
4157  |  MC1R  |  2.642  |  DISEASES
4204  |  MECP2  |  4.868  |  DISEASES
4205  |  MEF2A  |  2.221  |  DISEASES
4208  |  MEF2C  |  1.771  |  DISEASES
57380  |  MRS2  |  1.383  |  DISEASES
4692  |  NDN  |  4.051  |  DISEASES
23327  |  NEDD4L  |  1.107  |  DISEASES
84461  |  NEURL4  |  3.296  |  DISEASES
123606  |  NIPA1  |  4.419  |  DISEASES
81614  |  NIPA2  |  4.604  |  DISEASES
57185  |  NIPAL3  |  3.605  |  DISEASES
55655  |  NLRP2  |  1.784  |  DISEASES
199713  |  NLRP7  |  1.627  |  DISEASES
23742  |  NPAP1  |  2.883  |  DISEASES
4861  |  NPAS1  |  2.508  |  DISEASES
64067  |  NPAS3  |  2.007  |  DISEASES
4887  |  NPY2R  |  1.857  |  DISEASES
9378  |  NRXN1  |  1.012  |  DISEASES
30010  |  NXPH1  |  2.466  |  DISEASES
4948  |  OCA2  |  5.297  |  DISEASES
5073  |  PARN  |  2.051  |  DISEASES
5116  |  PCNT  |  1.055  |  DISEASES
5178  |  PEG3  |  1.377  |  DISEASES
5710  |  PSMD4  |  2.671  |  DISEASES
374308  |  PTCHD3  |  1.134  |  DISEASES
8123  |  PWAR5  |  4.017  |  DISEASES
791114  |  PWRN1  |  1.539  |  DISEASES
22930  |  RAB3GAP1  |  1.63  |  DISEASES
23543  |  RBFOX2  |  1.732  |  DISEASES
1104  |  RCC1  |  2.314  |  DISEASES
5649  |  RELN  |  1.496  |  DISEASES
6045  |  RNF2  |  2.458  |  DISEASES
4920  |  ROR2  |  1.639  |  DISEASES
6171  |  RPL41  |  2.059  |  DISEASES
388015  |  RTL1  |  1.856  |  DISEASES
6263  |  RYR3  |  1.617  |  DISEASES
85358  |  SHANK3  |  2.598  |  DISEASES
25942  |  SIN3A  |  1.575  |  DISEASES
9990  |  SLC12A6  |  1.579  |  DISEASES
10479  |  SLC9A6  |  4.735  |  DISEASES
84679  |  SLC9A7  |  4.013  |  DISEASES
28232  |  SLCO3A1  |  2.227  |  DISEASES
104472715  |  SNHG14  |  5.181  |  DISEASES
338429  |  SNORD109B  |  3.718  |  DISEASES
692218  |  SNORD115@  |  3.521  |  DISEASES
692236  |  SNORD116@  |  4.175  |  DISEASES
347686  |  SNORD64  |  2.837  |  DISEASES
8926  |  SNURF  |  4.822  |  DISEASES
6925  |  TCF4  |  2.194  |  DISEASES
80213  |  TM2D3  |  3.136  |  DISEASES
7153  |  TOP2A  |  1.365  |  DISEASES
7155  |  TOP2B  |  1.931  |  DISEASES
64222  |  TOR3A  |  2.783  |  DISEASES
9383  |  TSIX  |  3.082  |  DISEASES
10376  |  TUBA1B  |  1.812  |  DISEASES
113457  |  TUBA3D  |  1.593  |  DISEASES
7311  |  UBA52  |  1.355  |  DISEASES
7319  |  UBE2A  |  2.077  |  DISEASES
7328  |  UBE2H  |  2.423  |  DISEASES
7332  |  UBE2L3  |  1.519  |  DISEASES
7337  |  UBE3A  |  8.424  |  DISEASES
89910  |  UBE3B  |  1.245  |  DISEASES
51377  |  UCHL5  |  1.685  |  DISEASES
157680  |  VPS13B  |  1.946  |  DISEASES
64409  |  WBSCR17  |  3.178  |  DISEASES
7503  |  XIST  |  2.622  |  DISEASES
51530  |  ZC3HC1  |  3.088  |  DISEASES
23390  |  ZDHHC17  |  2.23  |  DISEASES
346171  |  ZFP57  |  1.838  |  DISEASES
10771  |  ZMYND11  |  2.142  |  DISEASES
26036  |  ZNF451  |  1.641  |  DISEASES
Locus(Waiting for update.)
Disease ID 150
Disease angelman syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:22)
HP:0010864  |  Intellectual disability, severe
HP:0001344  |  Absent speech
HP:0000248  |  Brachycephaly
HP:0001251  |  Ataxia
HP:0000154  |  Wide mouth
HP:0000303  |  Mandibular prognathia
HP:0000486  |  Strabismus
HP:0002167  |  Neurological speech impairment
HP:0000158  |  Macroglossia
HP:0002120  |  Cerebral cortical atrophy
HP:0000271  |  Abnormality of the face
HP:0002353  |  EEG abnormality
HP:0000708  |  Behavioral abnormality
HP:0001250  |  Seizures
HP:0000635  |  Blue irides
HP:0000327  |  Hypoplasia of the maxilla
HP:0000252  |  Microcephaly
HP:0000023  |  Inguinal hernia
HP:0001347  |  Hyperreflexia
HP:0000687  |  Widely spaced teeth
HP:0001252  |  Muscular hypotonia
HP:0006887  |  Intellectual disability, progressive
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
HP:0000717  |  Autism  |  1
HP:0001250  |  Seizures  |  1
HP:0001336  |  Myoclonic jerks  |  1
HP:0001631  |  Atria septal defect  |  1
HP:0001249  |  Mental retardation  |  1
HP:0001263  |  Developmental retardation  |  1
HP:0001289  |  Confusion  |  1
HP:0000750  |  Late-onset speech development  |  1
HP:0100543  |  Cognitive deficits  |  1
HP:0000252  |  Small head circumference  |  1
Disease ID 150
Disease angelman syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:10)
C2020541  |  strabismus
C1963139  |  hypopigmentation
C1096063  |  intractable epilepsy
C0851578  |  sleep disturbances
C0751249  |  chronic insomnia
C0679466  |  cognitive deficits
C0027066  |  myoclonus
C0023015  |  language disorder
C0014544  |  epilepsy
C0004352  |  autism
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0014544  |  epilepsy  |  4
C0004352  |  autism  |  1
C0027066  |  myoclonus  |  1
C0679466  |  cognitive deficits  |  1
Manually Genotype(Total Manually Genotypes:2)
Gene Mutation DOI Article Title
UBE3ANM_130838, c.1811_1812delGT (p.C604Yfs*23)doi:10.1038/gim.2015.186Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
UBE3A-doi:10.1038/gim.2015.51Clinical 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:120)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs111033594NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370865GA
rs111033595NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525340219CT
rs111033596NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371798TG
rs111033597NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371725AG
rs267608434NA4204MECP2umls:C0162635CLINVARNA0.246795978NAMECP2X154032416GG-
rs267608546NA6792CDKL5umls:C0162635CLINVARNA0.240542884NACDKL5X18598539-GA
rs28934904NA4204MECP2umls:C0162635CLINVARNA0.246795978NAMECP2X154031431GC,A
rs28934906NA4204MECP2umls:C0162635CLINVARNA0.246795978NAMECP2X154031355GA
rs28935468NA4204MECP2umls:C0162635CLINVARNA0.246795978NAMECP2X154030912GA
rs398124438NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370566CCTTGTCTAGCA
rs398124440NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339190TAAG-
rs587780565NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525375667G-
rs587780566NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525375563-CTTT
rs587780567NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525375502TA-
rs587780568NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525375490-T
rs587780569NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525375486CTTT-
rs587780570NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371799TAAG-
rs587780571NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371751CT-
rs587780572NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371710-A
rs587780573NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371567C-
rs587780574NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371533-T
rs587780575NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371426CA
rs587780576NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371397AT
rs587780577NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525405461AG
rs587780578NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371814TA
rs587780579NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356898TC
rs587780580NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354685TG
rs587780581NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371479TA
rs587780582NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371404AT,G
rs587780583NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371326AC
rs587780584NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370741GA
rs587780585NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370735ATAAAGGGACATGTC-
rs587781190NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371364AT
rs587781191NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371153GA
rs587781192NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371136ATAAGTA-
rs587781193NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371046-T
rs587781194NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371037-T
rs587781195NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371000CA
rs587781196NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370913GA
rs587781197NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370844CA
rs587781198NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370829CA
rs587781199NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370758-A
rs587781200NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370752AA-
rs587781201NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370743AT
rs587781202NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370727C-
rs587781203NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370608GA-
rs587781204NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370576-C
rs587781205NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525360504-T
rs587781206NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525360467-A
rs587781207NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525360433-AAAC
rs587781208NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356860CT
rs587781209NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356766TACATCCAGTA-
rs587781210NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356043CT-
rs587781211NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525355993TCATCATG-
rs587781212NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525355998-T
rs587781213NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525355984GA
rs587781214NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525355984G-
rs587781215NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354645-AATA
rs587781216NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354573-TACTT
rs587781217NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354571AT
rs587781218NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354562G-
rs587781219NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354414GA
rs587781220NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354402CA
rs587781221NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354402C-
rs587781222NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354395-TAGTT
rs587781223NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354357-C
rs587781224NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525340178AA-
rs587781225NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525340150TCTG-
rs587781226NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339222AT
rs587781227NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339218A-
rs587781228NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339207GC
rs587781229NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339195-TTTC
rs587781230NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339189-TAAG
rs587781231NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339188TT-
rs587781232NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NANA1525339131TTTGTTTTAC-
rs587781233NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525360443CT
rs587781234NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356843AAG-
rs587781235NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356840CG
rs587781236NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525355989GC,A
rs587781237NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354679AC
rs587781238NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525340115ATC-
rs587781239NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339216GA
rs587781240NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339188-TTAAGTTTTTCTTTGCTTGAG,TTAAG
rs587781241NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371797GT
rs587781242NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370810AG
rs587781243NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370684CG
rs587781244NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356893AT
rs587782919NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356827TG,C
rs587783097NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339193GA
rs587784508NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371024CT,A
rs587784509NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371001TTCA-
rs587784512NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370766TC-
rs587784513NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525370646AGCTGTAG-
rs587784514NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525360509CA
rs587784515NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525360477AT
rs587784516NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525360442CT
rs587784518NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525360388TC
rs587784519NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356860CAAAA-
rs587784520NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356813CAAT-
rs587784526NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339211AG
rs587784527NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339186TCTT-
rs587784529NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371793TTCTG-
rs587784530NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371734A-
rs587784531NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371715AACTCTTCCAAT-
rs587784532NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371603CCTTTTC-
rs587784533NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371285CA
rs587784534NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371150GA
rs61748396NA4204MECP2umls:C0162635CLINVARNA0.246795978NAMECP2X154031405GT,C
rs61754453NA4204MECP2umls:C0162635CLINVARNA0.246795978NAMECP2X154032282GT,C,A
rs63749748NA4204MECP2umls:C0162635CLINVARNA0.246795978NAMECP2X154030628GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA-
rs76794400NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339138TA,C
rs786200996NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525371627-AG
rs794727738NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356827TG-
rs797046084NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525405459-TT
rs797046085NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525354569-T
rs797046086NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525340182-TCTT
rs797046087NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339193-T
rs797046088NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525339148-A
rs864309506NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525375707CA
rs864309508NA7337UBE3Aumls:C0162635CLINVARNA0.366118831NAUBE3A1525356778AC-
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:7)
HP ID HP Name MP ID MP Name Annotation
HP:0000687Widely spaced teethMP:0004033supernumerary teethoccurrence of more than the usual number of teeth
HP:0000023Inguinal herniaMP:0010146umbilical herniaan outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close
HP:0002120Cerebral cortical atrophyMP:0012506brain atrophyacquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan
HP:0006887Intellectual disability, progressiveMP:0000748progressive muscle weaknessincreasing loss of muscle strength over time
HP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0000327Hypoplasia of the maxillaMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0000271Abnormality of the faceMP:0009889persistence of medial edge epithelium during palatal shelf fusionpalatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam
Mapped by homologous gene(Total Items:22)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP:3000003abnormal Ebner's gland morphologyany 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:0000154Wide mouthMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000327Hypoplasia of the maxillaMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001344Absent speechMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002120Cerebral cortical atrophyMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany 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:0000303Mandibular prognathiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000486StrabismusMP:3000003abnormal Ebner's gland morphologyany 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:0002353EEG abnormalityMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000708Behavioral abnormalityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001347HyperreflexiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000687Widely spaced teethMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0006887Intellectual disability, progressiveMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000271Abnormality of the faceMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000248BrachycephalyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000158MacroglossiaMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0010864Intellectual disability, severeMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0002167Neurological speech impairmentMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000023Inguinal herniaMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000635Blue iridesMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0000252MicrocephalyMP:3000003abnormal Ebner's gland morphologyany 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
Disease ID 150
Disease angelman syndrome
Case(Waiting for update.)