eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly

Disease ID	1659
Disease	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Definition	A deformed foot in which the foot is plantarflexed, inverted, and adducted.
Synonym	ccf club feet club foot club foot - congenital clubbed foot clubbing of feet clubfeet clubfeet, congenital clubfoot clubfoot (disorder) clubfoot - congenital clubfoot [disease/finding] clubfoot disorders clubfoot nos clubfoot nos (disorder) clubfoot, congenital clubfoot, nos congenital club feet congenital club foot congenital clubfeet congenital clubfoot congenital equinovarus congenital talipes equinovarus ctev - congenital talipes equinovarus equinovarus equinovarus - talipes equinovarus deformity equinovarus deformity of foot equinovarus deformity of foot (finding) foot, talipes equinovarus pes equinovarus pes equinus pie torcido pie torcidos talipes talipes equinovarus talipes equinovarus (clubfoot) talipes equinovarus (disorder) talipes equinovarus, congenital tev - talipes equinovarus
OMIM	OMIM:119800
DOID	DOID:11836
ICD10	ICD10CM:Q66.0
UMLS	C0009081
MeSH	D003025 D000070558
SNOMED-CT	SNOMEDCT_US_2016_09_01:249808002;SNOMEDCT_US_2016_09_01:397932003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0007789 \| cerebral palsy \| 2 C0042075 \| urological diseases \| 1 C0024221 \| lymphangioma \| 1 C0036439 \| scoliosis \| 1 C0008925 \| cleft palate \| 1 C0151313 \| sensory neuropathy \| 1 C0029408 \| osteoarthritis \| 1 C0442874 \| neuropathy \| 1 C0012236 \| digeorge syndrome \| 1 C0080178 \| spina bifida \| 1 C0027868 \| neuromuscular disease \| 1 C0026848 \| muscular diseases \| 1 C0027765 \| neurological disease \| 1 C0027868 \| neuromuscular diseases \| 1 C0338596 \| spastic cerebral palsy \| 1 C0026846 \| muscle atrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 4524 \| MTHFR \| CTD_human 5307 \| PITX1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 113189 \| CHST14 \| CTD_human 4010 \| LMX1B \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:37) 1297 \| COL9A1 \| CIPHER 317 \| APAF1 \| CIPHER 596 \| BCL2 \| CIPHER 637 \| BID \| CIPHER 843 \| CASP10 \| CIPHER 836 \| CASP3 \| CIPHER 841 \| CASP8 \| CIPHER 842 \| CASP9 \| CIPHER 1277 \| COL1A1 \| CIPHER 3197 \| HOXA@ \| CIPHER 3206 \| HOXA10 \| CIPHER 3207 \| HOXA11 \| CIPHER 3199 \| HOXA2 \| CIPHER 3202 \| HOXA5 \| CIPHER 3205 \| HOXA9 \| CIPHER 3230 \| HOXD@ \| CIPHER 3231 \| HOXD1 \| CIPHER 3236 \| HOXD10 \| CIPHER 3237 \| HOXD11 \| CIPHER 3238 \| HOXD12 \| CIPHER 3232 \| HOXD3 \| CIPHER 3233 \| HOXD4 \| CIPHER 3234 \| HOXD8 \| CIPHER 3235 \| HOXD9 \| CIPHER 3486 \| IGFBP3 \| CIPHER 4524 \| MTHFR \| CIPHER;CTD_human 4619 \| MYH1 \| CIPHER 4620 \| MYH2 \| CIPHER 4621 \| MYH3 \| CIPHER 4626 \| MYH8 \| CIPHER 9 \| NAT1 \| CIPHER 10 \| NAT2 \| CIPHER 2737 \| GLI3 \| CIPHER 3239 \| HOXD13 \| CIPHER 4010 \| LMX1B \| CTD_human 5307 \| PITX1 \| CTD_human 113189 \| CHST14 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:62) 58 \| ACTA1 \| 1.183 \| DISEASES 71 \| ACTG1 \| 1.786 \| DISEASES 1645 \| AKR1C1 \| 4.907 \| DISEASES 64400 \| AKTIP \| 1.461 \| DISEASES 23066 \| CAND2 \| 2.117 \| DISEASES 9973 \| CCS \| 2.572 \| DISEASES 9350 \| CER1 \| 2.085 \| DISEASES 1146 \| CHRNG \| 2.751 \| DISEASES 9469 \| CHST3 \| 3.752 \| DISEASES 1272 \| CNTN1 \| 2.178 \| DISEASES 1280 \| COL2A1 \| 2.446 \| DISEASES 1290 \| COL5A2 \| 2.182 \| DISEASES 1297 \| COL9A1 \| 4.559 \| DISEASES 1298 \| COL9A2 \| 3.158 \| DISEASES 1299 \| COL9A3 \| 2.41 \| DISEASES 56259 \| CTNNBL1 \| 1.29 \| DISEASES 1718 \| DHCR24 \| 1.687 \| DISEASES 285489 \| DOK7 \| 2.902 \| DISEASES 1798 \| DPAGT1 \| 1.428 \| DISEASES 29940 \| DSE \| 1.646 \| DISEASES 10682 \| EBP \| 2.228 \| DISEASES 121512 \| FGD4 \| 2.735 \| DISEASES 2316 \| FLNA \| 1.539 \| DISEASES 2317 \| FLNB \| 3.334 \| DISEASES 158326 \| FREM1 \| 2.524 \| DISEASES 2596 \| GAP43 \| 1.293 \| DISEASES 8200 \| GDF5 \| 2.617 \| DISEASES 2737 \| GLI3 \| 3.446 \| DISEASES 2996 \| GYPE \| 1.559 \| DISEASES 3205 \| HOXA9 \| 2.155 \| DISEASES 3227 \| HOXC11 \| 3.936 \| DISEASES 3238 \| HOXD12 \| 3.061 \| DISEASES 3239 \| HOXD13 \| 3.899 \| DISEASES 3481 \| IGF2 \| 1.836 \| DISEASES 56704 \| JPH1 \| 2.533 \| DISEASES 3980 \| LIG3 \| 1.221 \| DISEASES 4010 \| LMX1B \| 1.636 \| DISEASES 4148 \| MATN3 \| 1.776 \| DISEASES 9782 \| MATR3 \| 2.389 \| DISEASES 4487 \| MSX1 \| 1.555 \| DISEASES 4604 \| MYBPC1 \| 2.892 \| DISEASES 4626 \| MYH8 \| 2.589 \| DISEASES 342538 \| NACA2 \| 3.14 \| DISEASES 4671 \| NAIP \| 1.587 \| DISEASES 9612 \| NCOR2 \| 1.406 \| DISEASES 5048 \| PAFAH1B1 \| 1.559 \| DISEASES 5203 \| PFDN4 \| 2.595 \| DISEASES 23556 \| PIGN \| 1.992 \| DISEASES 8241 \| RBM10 \| 3.337 \| DISEASES 9939 \| RBM8A \| 2.707 \| DISEASES 862 \| RUNX1T1 \| 1.148 \| DISEASES 6261 \| RYR1 \| 1.288 \| DISEASES 6329 \| SCN4A \| 1.665 \| DISEASES 6391 \| SDHC \| 1.134 \| DISEASES 114815 \| SORCS1 \| 2.311 \| DISEASES 23345 \| SYNE1 \| 1.771 \| DISEASES 7125 \| TNNC2 \| 3.521 \| DISEASES 7169 \| TPM2 \| 3.965 \| DISEASES 63894 \| VIPAS39 \| 2.908 \| DISEASES 25844 \| YIPF3 \| 2.692 \| DISEASES 118813 \| ZFYVE27 \| 3.025 \| DISEASES 144348 \| ZNF664 \| 3.553 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1659
Disease	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:41) HP:0001762 \| Talipes equinovarus \| 9 HP:0001883 \| Talipes \| 6 HP:0002804 \| Arthrogryposis multiplex congenita \| 3 HP:0001297 \| Cerebral vascular events \| 3 HP:0012385 \| Camptodactyly \| 2 HP:0010442 \| Polydactyly \| 2 HP:0100021 \| Cerebral palsy \| 2 HP:0001269 \| Hemiparesis \| 2 HP:0001631 \| Atria septal defect \| 1 HP:0002414 \| Spina bifida \| 1 HP:0002475 \| Myelomeningocele \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0011099 \| Spastic hemiparesis \| 1 HP:0100699 \| Scarring \| 1 HP:0000201 \| Pierre-robin deformity \| 1 HP:0001159 \| Webbed fingers or toes \| 1 HP:0010648 \| Dermal translucency \| 1 HP:0012531 \| Pain \| 1 HP:0000021 \| Megacystis \| 1 HP:0002857 \| Genu valgum \| 1 HP:0009465 \| Medially deviated fingers \| 1 HP:0008138 \| Hindfoot equinus \| 1 HP:0100258 \| Polydactyly, preaxial \| 1 HP:0200042 \| Skin ulcer \| 1 HP:0001288 \| Gait disturbance \| 1 HP:0100257 \| Cleft hand \| 1 HP:0100764 \| Lymphangioma \| 1 HP:0002650 \| Scoliosis \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0003470 \| Inability to move \| 1 HP:0000763 \| Sensory neuropathy \| 1 HP:0009487 \| Ulnar deviation of the hands \| 1 HP:0002064 \| Spastic gait \| 1 HP:0001257 \| Spasticity \| 1 HP:0006380 \| Contractures of knees \| 1 HP:0003418 \| Back pain \| 1 HP:0009826 \| limb shortening \| 1 HP:0010880 \| Increased nuchal translucency \| 1 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 1 HP:0000347 \| Hypoplasia of mandible \| 1

Disease ID	1659
Disease	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
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:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893915	11565064	1836	SLC26A2	umls:C0009081	BeFree	The probands with talipes deformities or multipartite patella were also screened for the R279W mutation in DTDST.	0.000271442	2001	SLC26A2	5	149980428	C	T
rs104893915	11565064	1836	SLC26A2	umls:C1301937	BeFree	The probands with talipes deformities or multipartite patella were also screened for the R279W mutation in DTDST.	0.000271442	2001	SLC26A2	5	149980428	C	T
rs121909109	NA	5307	PITX1	umls:C0009081	CLINVAR	NA	0.562171535	NA	PITX1;C5orf66	5	135031290	C	T
rs3731714	17534194	9360	PPIG	umls:C0009081	BeFree	rs3731714 in Casp10 showed linkage with association, suggesting variation in the apoptotic gene pathway, which is important in limb morphogenesis, and may play a role in the development of idiopathic talipes equinovarus.	0.000542884	2007	CASP10	2	201196097	C	T
rs730882191	NA	5307	PITX1	umls:C0009081	CLINVAR	NA	0.562171535	NA	PITX1	5	135028925	GAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC	-
rs7969148	24667120	144348	ZNF664	umls:C0009081	BeFree	Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻⁵) that was significant on replication (combined OR=0.63, p=1.90×10⁻⁷).	0.000271442	2015	ZNF664-FAM101A	12	124129992	T	C
rs7969148	24667120	9612	NCOR2	umls:C0009081	BeFree	Strongest evidence for an association of clubfoot was found with an intergenic SNP on chromosome 12q24.31 between NCOR2 and ZNF664 (rs7969148, OR=0.58, p=1.25×10⁻⁵) that was significant on replication (combined OR=0.63, p=1.90×10⁻⁷).	0.000271442	2015	ZNF664-FAM101A	12	124129992	T	C
rs7969148	24667120	100533183	ZNF664-FAM101A	umls:C0009081	GWASCAT	Genome-wide association study identifies new disease loci for isolated clubfoot.	0.12	2015	ZNF664-FAM101A	12	124129992	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:4)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
10	108725495	rs4918273	C	T	rs4918273	24667120	1.06E-04	NA	1.3	NA	396 European ancestry cases; 1,000 European ancestry controls	European(1396)	ALL(1396)	EUR(1396)	ALL(1396)	Clubfoot	HPOID:0001762	Talipes equinovarus	DOID:11836	clubfoot	NA	NA	NA	NA	NA	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T
11	102346586	rs11225266	A	C	rs11225266	24667120	1.15E-05	NA	1.77	NA	396 European ancestry cases; 1,000 European ancestry controls	European(1396)	ALL(1396)	EUR(1396)	ALL(1396)	Clubfoot	HPOID:0001762	Talipes equinovarus	DOID:11836	clubfoot	NA	NA	NA	NA	NA	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	A
12	124614538	rs7969148	T	C	rs7969148	24667120	2.00E-07	NA	1.58	NA	396 European ancestry cases; 1,000 European ancestry controls	European(1396)	ALL(1396)	EUR(1396)	ALL(1396)	Clubfoot	HPOID:0001762	Talipes equinovarus	DOID:11836	clubfoot	NA	NA	NA	NA	NA	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T
14	89901962	rs12885505	T	A	rs12885505	24667120	2.95E-05	NA	1.55	NA	396 European ancestry cases; 1,000 European ancestry controls	European(1396)	ALL(1396)	EUR(1396)	ALL(1396)	Clubfoot	HPOID:0001762	Talipes equinovarus	DOID:11836	clubfoot	NA	NA	NA	NA	NA	NA	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	T

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

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

Disease ID	1659
Disease	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter