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	robinow syndrome

Disease ID	728
Disease	robinow syndrome
Definition	A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no causative mutation identified for the autosomal dominant form. It is manifested with short limbs, abnormal facial features, underdeveloped genitalia, and wedge-shaped vertebrae.
Synonym	acral dysostosis with facial and genital abnormalities drs1 fetal face syndrome foetal face syndrome mesomelic dwarfism-small genitalia syndrome robinow dwarfism robinow syndrome (disorder) robinow syndrome, autosomal dominant robinow syndrome, autosomal dominant 1 robinow's syndrome robinow-silverman-smith syndrome
Orphanet	ORPHANET:97360
OMIM	OMIM:180700 OMIM:608024
DOID	DOID:0060254
UMLS	C0265205
SNOMED-CT	SNOMEDCT_US_2016_09_01:76520005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C1145670 \| respiratory failure \| 1 C0029464 \| osteosclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 4920 \| ROR2 \| GHR;UNIPROT 7474 \| WNT5A \| CLINVAR;UNIPROT 10455 \| ECI2 \| OMIM
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:121) 84890 \| ADO \| 1.03 \| DISEASES 9255 \| AIMP1 \| 2.591 \| DISEASES 57016 \| AKR1B10 \| 1.071 \| DISEASES 23365 \| ARHGEF12 \| 1.221 \| DISEASES 408 \| ARRB1 \| 1.083 \| DISEASES 220202 \| ATOH7 \| 1.807 \| DISEASES 10396 \| ATP8A1 \| 5.012 \| DISEASES 51761 \| ATP8A2 \| 2.684 \| DISEASES 1052 \| CEBPD \| 1.008 \| DISEASES 79827 \| CLMP \| 1.857 \| DISEASES 1394 \| CRHR1 \| 1.622 \| DISEASES 1395 \| CRHR2 \| 2.584 \| DISEASES 1431 \| CS \| 2.743 \| DISEASES 1496 \| CTNNA2 \| 2.136 \| DISEASES 9802 \| DAZAP2 \| 2.895 \| DISEASES 51428 \| DDX41 \| 1.892 \| DISEASES 1660 \| DHX9 \| 1.141 \| DISEASES 127343 \| DMBX1 \| 2.514 \| DISEASES 9829 \| DNAJC6 \| 2.098 \| DISEASES 1759 \| DNM1 \| 1.333 \| DISEASES 29940 \| DSE \| 1.262 \| DISEASES 1855 \| DVL1 \| 3.201 \| DISEASES 10455 \| ECI2 \| 2.844 \| DISEASES 284131 \| ENDOV \| 2.54 \| DISEASES 2058 \| EPRS \| 2.13 \| DISEASES 2193 \| FARSA \| 1.193 \| DISEASES 2245 \| FGD1 \| 1.723 \| DISEASES 2266 \| FGG \| 1.688 \| DISEASES 2524 \| FUT2 \| 1.76 \| DISEASES 7855 \| FZD5 \| 1.755 \| DISEASES 8326 \| FZD9 \| 1.659 \| DISEASES 60674 \| GAS5 \| 1.539 \| DISEASES 8200 \| GDF5 \| 1.098 \| DISEASES 2689 \| GH2 \| 2.555 \| DISEASES 11245 \| GPR176 \| 1.769 \| DISEASES 160897 \| GPR180 \| 1.754 \| DISEASES 63940 \| GPSM3 \| 2.116 \| DISEASES 3029 \| HAGH \| 1.955 \| DISEASES 9001 \| HAP1 \| 1.871 \| DISEASES 3096 \| HIVEP1 \| 2.717 \| DISEASES 3190 \| HNRNPK \| 1.273 \| DISEASES 3283 \| HSD3B1 \| 1.04 \| DISEASES 3329 \| HSPD1 \| 3.489 \| DISEASES 5654 \| HTRA1 \| 2.511 \| DISEASES 3376 \| IARS \| 3.478 \| DISEASES 3399 \| ID3 \| 1.144 \| DISEASES 3400 \| ID4 \| 1.178 \| DISEASES 3640 \| INSL3 \| 2.195 \| DISEASES 50618 \| ITSN2 \| 1.577 \| DISEASES 3735 \| KARS \| 3.161 \| DISEASES 3776 \| KCNK2 \| 1.379 \| DISEASES 51520 \| LARS \| 3.029 \| DISEASES 100885779 \| LINC-ROR \| 3.213 \| DISEASES 64327 \| LMBR1 \| 6.445 \| DISEASES 4047 \| LSS \| 1.544 \| DISEASES 147719 \| LYPD4 \| 2.379 \| DISEASES 378938 \| MALAT1 \| 1.654 \| DISEASES 5602 \| MAPK10 \| 1.317 \| DISEASES 8972 \| MGAM \| 1.094 \| DISEASES 50488 \| MINK1 \| 1.721 \| DISEASES 23041 \| MON2 \| 2.486 \| DISEASES 26002 \| MOXD1 \| 1.592 \| DISEASES 92399 \| MRRF \| 6.049 \| DISEASES 57380 \| MRS2 \| 1.602 \| DISEASES 4478 \| MSN \| 2.293 \| DISEASES 4535 \| MT-ND1 \| 1.31 \| DISEASES 4537 \| MT-ND3 \| 1.541 \| DISEASES 4540 \| MT-ND5 \| 2.085 \| DISEASES 4569 \| MT-TM \| 3.331 \| DISEASES 4579 \| MT-TY \| 3.77 \| DISEASES 26151 \| NAT9 \| 1.92 \| DISEASES 4692 \| NDN \| 1.264 \| DISEASES 344022 \| NOTO \| 1.713 \| DISEASES 4905 \| NSF \| 1.144 \| DISEASES 4958 \| OMD \| 1.355 \| DISEASES 23022 \| PALLD \| 1.703 \| DISEASES 5091 \| PC \| 1.098 \| DISEASES 25894 \| PLEKHG4 \| 3.777 \| DISEASES 5367 \| PMCH \| 2.88 \| DISEASES 5429 \| POLH \| 2.197 \| DISEASES 5493 \| PPL \| 1.016 \| DISEASES 144165 \| PRICKLE1 \| 2.185 \| DISEASES 389362 \| PSMG4 \| 3.292 \| DISEASES 5727 \| PTCH1 \| 1.598 \| DISEASES 374308 \| PTCHD3 \| 3.842 \| DISEASES 5799 \| PTPRN2 \| 1.03 \| DISEASES 5813 \| PURA \| 1.841 \| DISEASES 5814 \| PURB \| 2.961 \| DISEASES 5888 \| RAD51 \| 5.111 \| DISEASES 57038 \| RARS2 \| 3.706 \| DISEASES 6015 \| RING1 \| 1.493 \| DISEASES 196475 \| RMST \| 2.519 \| DISEASES 55328 \| RNLS \| 1.542 \| DISEASES 4920 \| ROR2 \| 6.125 \| DISEASES 6135 \| RPL11 \| 1.683 \| DISEASES 23521 \| RPL13A \| 1.918 \| DISEASES 6181 \| RPLP2 \| 1.772 \| DISEASES 6187 \| RPS2 \| 1.88 \| DISEASES 6189 \| RPS3A \| 1.784 \| DISEASES 6202 \| RPS8 \| 2.938 \| DISEASES 23212 \| RRS1 \| 3.923 \| DISEASES 140576 \| S100A16 \| 4.207 \| DISEASES 22908 \| SACM1L \| 2.323 \| DISEASES 54938 \| SARS2 \| 2.443 \| DISEASES 57515 \| SERINC1 \| 2.635 \| DISEASES 5270 \| SERPINE2 \| 1.112 \| DISEASES 26503 \| SLC17A5 \| 2.387 \| DISEASES 9748 \| SLK \| 1.652 \| DISEASES 63826 \| SRR \| 2.118 \| DISEASES 25870 \| SUMF2 \| 3.336 \| DISEASES 10492 \| SYNCRIP \| 2.385 \| DISEASES 117532 \| TMC2 \| 3.117 \| DISEASES 3842 \| TNPO1 \| 2.056 \| DISEASES 57113 \| TRPC7 \| 3.05 \| DISEASES 57216 \| VANGL2 \| 3.035 \| DISEASES 11311 \| VPS45 \| 2.896 \| DISEASES 6293 \| VPS52 \| 2.373 \| DISEASES 10490 \| VTI1B \| 3.354 \| DISEASES 79971 \| WLS \| 1.552 \| DISEASES 7490 \| WT1 \| 1.061 \| DISEASES 25937 \| WWTR1 \| 1.337 \| DISEASES
Locus	(Waiting for update.)

Disease ID	728
Disease	robinow syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0000028 \| Cryptorchidism \| 1 HP:0011001 \| Increased bone mineral density \| 1 HP:0002878 \| Respiratory failure \| 1

Disease ID	728
Disease	robinow syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C0455683 \| congenital heart disease C0376293 \| stigmata C0026654 \| moyamoya syndrome
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:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs387906663	NA	7474	WNT5A	umls:C0265205	CLINVAR	NA	0.241357209	NA	WNT5A	3	55474477	A	G
rs786200925	NA	7474	WNT5A	umls:C0265205	CLINVAR	NA	0.241357209	NA	WNT5A	3	55479457	C	G
rs786204836	NA	7474	WNT5A	umls:C0265205	CLINVAR	NA	0.241357209	NA	WNT5A	3	55479448	T	C
rs786204837	NA	7474	WNT5A	umls:C0265205	CLINVAR	NA	0.241357209	NA	WNT5A	3	55479499	C	T

GWASdb Annotation(Total Genotypes:1)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
6	4133855	rs3177253	NR_028588,ECI2	NM_206836,ECI2	NM_001166010,ECI2	NM_006117,ECI2	ENST00000380118,ENSG00000198721	ENST00000380125,ENSG00000198721	ENST00000380114,ENSG00000198721	ENST00000413766,ENSG00000198721	ENST00000496241,ENSG00000198721	ENST00000380120,ENSG00000198721	ENST00000361538,ENSG00000198721	ENST00000464057,ENSG00000198721	ENST00000478266,ENSG00000198721	ENST00000465828,ENSG00000198721	ENST00000464583,ENSG00000198721	ENST00000495548,ENSG00000198721	ENST00000489086,ENSG00000198721	MCV-1	NA	chr6,4130001,4140000,chr6,4060001,4070000,4,Hi-C	NA	LM8,2.6256	LM12,1.8822	LM30,1.3667	LM30,2.2681	LM31,115.353	NA	NA	NA	PECI,C,T,M,I,0.025,0.6,0.000009,0.00199	PECI,C,G,M,I,0.025,0.6,0.000009,0.00199	PECI,C,A,M,I,0.025,0.6,0.000009,0.00199	NA	NM_006117,TypeIII-,ATG->ATA,M->I,2.8	0.019

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	728
Disease	robinow syndrome
Case	(Waiting for update.)

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