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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:lip disease
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Accession:DOID:9297 term browser browse the term
Definition:A mouth disease located_in the lip. (DO)
Synonyms:exact_synonym: disease of lips;   lip diseases
 primary_id: MESH:D008047
 xref: ICD10CM:K13.0;   ICD9CM:528.5;   NCI:C26818
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Actinic Cheilitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 IEP RGD PMID:26723902 RGD:14975265 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G CTNND1 catenin delta 1 IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 IAGP
EXP
DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9774969, PMID:10886756, PMID:11159940, PMID:15200513, PMID:19239083, PMID:19353588, PMID:19676059, PMID:19793345, PMID:21615690, PMID:28492532, PMID:11159940 RGD:11568643 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HFE homeostatic iron regulator IAGP DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr 6:26,087,347...26,098,343
Ensembl chr 6:26,087,281...26,098,343
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IEP protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G IL10 interleukin 10 IAGP DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity IAGP DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 4:101,023,418...101,348,295
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G FOXE1 forkhead box E1 IAGP
EXP
ClinVar Annotator: match by term: Hypothyroidism, thyroidal, with spiky hair and cleft palate
ClinVar Annotator: match by term: Bamforth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2918525, PMID:9697705, PMID:12165566, PMID:16882747, PMID:16884476, PMID:21177256, PMID:25381600, PMID:25741868, PMID:28492532 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 IAGP ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817, PMID:25741868, PMID:25792360, PMID:28492532, PMID:30039206 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
Ensembl chr19:49,818,282...49,840,383
JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHA5 pleckstrin homology domain containing A5 IAGP ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr12:19,129,680...19,376,400
Ensembl chr12:19,129,752...19,376,400
JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:8033105, PMID:27566442, PMID:28301459, PMID:32260281 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,541
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNND1 catenin delta 1 IAGP ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
PMID:25741868, PMID:28301459, PMID:29805042 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar PMID:28301459, PMID:29805042 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMP1 endoplasmic reticulum metallopeptidase 1 IAGP ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435, PMID:31932796 NCBI chr 9:5,764,061...5,867,091
Ensembl chr 9:5,765,076...5,833,117
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER OMIM
ClinVar
PMID:27878435, PMID:31932796 NCBI chr 9:5,629,030...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 IAGP ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 1:94,168,905...94,275,068
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:79,069,767...79,090,069
Ensembl chr 5:79,069,767...79,090,069
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility IAGP DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868, PMID:18771417, PMID:23227324 RGD:13442495, RGD:13442497 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 susceptibility IAGP DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar PMID:25741868, PMID:28492532, PMID:29805042, PMID:15831593 RGD:1599548 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,541
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G CTNND1 catenin delta 1 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G ESRP2 epithelial splicing regulatory protein 2 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr16:68,225,968...68,236,175
Ensembl chr16:68,229,033...68,238,102
JBrowse link
G FGF1 fibroblast growth factor 1 IAGP DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
JBrowse link
G FGF10 fibroblast growth factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGF3 fibroblast growth factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,130...101,780,369
JBrowse link
G FGF9 fibroblast growth factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP
EXP
DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17963255, PMID:24613087 RGD:11567264 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,334...121,598,458
Ensembl chr10:121,478,334...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GDF6 growth differentiation factor 6 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
EXP
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:17041601, PMID:18836445, PMID:20436469, PMID:12219090 RGD:1600214 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KIF7 kinesin family member 7 IAGP DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G LOC109433677 BMP4 promoter region IAGP ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr14:53,953,395...53,958,769 JBrowse link
G MAFB MAF bZIP transcription factor B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MSX1 msh homeobox 1 IAGP DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
IAGP DNA:SNP:cds:1958G>A(human) RGD PMID:25129243, PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP
EXP
DNA:polymorphism: :c.677C>T(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16470725, PMID:27387868 RGD:11565179 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NOG noggin susceptibility IAGP DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NTN1 netrin 1 IAGP ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr17:9,021,510...9,244,000
Ensembl chr17:9,021,510...9,244,000
JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr12:19,129,680...19,376,400
Ensembl chr12:19,129,752...19,376,400
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr11:16,777,297...17,014,423
Ensembl chr11:16,777,297...17,014,414
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SDC2 syndecan 2 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,493,601...96,611,790
Ensembl chr 8:96,493,813...96,611,790
JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility IAGP
EXP
DNA:SNP: :80G>A(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:21254359, PMID:18797703 RGD:11565176 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP
EXP
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16990542 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,180...202,238,608
Ensembl chr 2:202,206,180...202,238,608
JBrowse link
G TCN2 transcobalamin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
JBrowse link
G TP63 tumor protein p63 IAGP
EXP
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16688749 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 IAGP
EXP
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3035184, PMID:10932188, PMID:11559849, PMID:11756979, PMID:12893758, PMID:16195396, PMID:16674562, PMID:17089422, PMID:18223281, PMID:19132250, PMID:19715471, PMID:23560673, PMID:24560896, PMID:28492532 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BHMT2 betaine--homocysteine S-methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:79,069,767...79,090,069
Ensembl chr 5:79,069,767...79,090,069
JBrowse link
G BNC2 basonuclin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO
EXP
DNA:insertion
CTD Direct Evidence: marker/mechanism
CTD PMID:9787075, PMID:9787075 RGD:11576291 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,517
Ensembl chr  X:41,514,934...41,923,517
JBrowse link
G CBFB core-binding factor subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex EXP CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr10:100,188,300...100,229,610
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G COL2A1 collagen type II alpha 1 chain susceptibility IAGP
EXP
DNA:SNP,haplotype:intron:rs1793949(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15562585, PMID:20672350 RGD:12436724 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G EGF epidermal growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G FGF10 fibroblast growth factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGF3 fibroblast growth factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,130...101,780,369
JBrowse link
G FGF9 fibroblast growth factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,334...121,598,458
Ensembl chr10:121,478,334...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638
JBrowse link
G FLNB filamin B susceptibility IAGP DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,400...58,172,251
JBrowse link
G FZD4 frizzled class receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GDF6 growth differentiation factor 6 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,237,870
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,891,117
JBrowse link
G GOLGB1 golgin B1 ISS MouseDO NCBI chr 3:121,663,201...121,751,169
Ensembl chr 3:121,663,199...121,749,767
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,319,322...24,364,482
Ensembl chr 1:24,319,322...24,364,482
JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 2:190,343,589...190,371,665
Ensembl chr 2:190,343,570...190,371,665
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
EXP
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
CTD
ClinVar
PMID:12920575, PMID:17041601, PMID:25741868, PMID:12219090, PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KIF7 kinesin family member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G MNT MAX network transcriptional repressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr17:2,384,073...2,401,060
Ensembl chr17:2,384,073...2,401,104
JBrowse link
G MSX1 msh homeobox 1 IAGP
EXP
DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12163415, PMID:12701100, PMID:15301380, PMID:12807959 RGD:5132609 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,292...236,921,278
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NEK9 NIMA related kinase 9 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr14:75,079,353...75,127,637
Ensembl chr14:75,079,353...75,127,344
JBrowse link
G NFIA nuclear factor I A IAGP ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RARG retinoic acid receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr12:53,210,569...53,232,231
Ensembl chr12:53,210,567...53,232,980
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 susceptibility IAGP DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RYK receptor like tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 3:134,157,133...134,250,859
Ensembl chr 3:134,065,303...134,250,859
Ensembl chr 3:134,065,303...134,250,859
JBrowse link
G SATB2 SATB homeobox 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803, PMID:17377962, PMID:19170718, PMID:23925499, PMID:24301056, PMID:25741868, PMID:28492532, PMID:29023086, PMID:30311386 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
JBrowse link
G SDC2 syndecan 2 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,493,601...96,611,790
Ensembl chr 8:96,493,813...96,611,790
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SHOX2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 3:158,095,905...158,106,420
Ensembl chr 3:158,095,954...158,106,503
JBrowse link
G SIM2 SIM bHLH transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr21:36,699,115...36,750,219
Ensembl chr21:36,699,115...36,749,917
JBrowse link
G SLC19A1 solute carrier family 19 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr19:10,960,999...11,062,277
Ensembl chr19:10,960,932...11,079,426
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
JBrowse link
G SUMO1 small ubiquitin like modifier 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,180...202,238,608
Ensembl chr 2:202,206,180...202,238,608
JBrowse link
G TBX22 T-box transcription factor 22 IAGP cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
ClinVar PMID:25741868, PMID:12374769 RGD:724722 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
JBrowse link
G TENM4 teneurin transmembrane protein 4 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr11:78,652,829...79,441,030
Ensembl chr11:78,652,829...79,441,030
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFB2 transforming growth factor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:7493022, PMID:26971374, PMID:17097601 RGD:12801424 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TP63 tumor protein p63 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 IAGP ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678, PMID:11559848, PMID:12374769, PMID:14729838, PMID:22784330 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 IAGP ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:24678003, PMID:25741868, PMID:27225850, PMID:28492532 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC32 leucine rich repeat containing 32 IAGP ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747
JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM1A lysine demethylase 1A IAGP ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features
ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
ClinVar
OMIM
PMID:23020937, PMID:24838796, PMID:25741868, PMID:26656649 NCBI chr 1:23,019,443...23,083,691
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 IAGP ClinVar Annotator: match by term: Cleft velum ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
Ensembl chr 3:30,606,601...30,694,142
JBrowse link
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I IAGP ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728, PMID:23324645, PMID:26637975 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,720,352...30,725,426
JBrowse link
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 ClinVar
OMIM
PMID:19182162, PMID:21262397, PMID:26637975 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot
ClinVar
OMIM
PMID:8423615, PMID:11152147, PMID:17345626, PMID:19571066, PMID:23487782, PMID:24649842, PMID:24726473, PMID:25712306, PMID:25741868, PMID:27607563, PMID:27653382, PMID:27714920, PMID:27912047, PMID:30285720, PMID:31680123 NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
Ensembl chr18:10,666,483...11,149,569
JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: EEC SYNDROME 3 ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G LOC111162621 DeltaNp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ClinVar NCBI chr 3:189,786,613...189,789,801 JBrowse link
G TP63 tumor protein p63 IAGP
EXP
DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar
CTD
OMIM
PMID:8737655, PMID:9028452, PMID:9443880, PMID:10535733, PMID:10839977, PMID:10936828, PMID:11462173, PMID:12161593, PMID:12525544, PMID:12838557, PMID:12939657, PMID:16691622, PMID:17041931, PMID:17431922, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21204238, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:25983622, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:10535733, PMID:26470833, PMID:12161593, PMID:11903230 RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G TP63 tumor protein p63 ISO
IAGP
EXP
DNA:missense mutation:exon:p.R318H (mouse)
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
ClinVar
CTD
PMID:10535733, PMID:10839977, PMID:11462173, PMID:12525544, PMID:12939657, PMID:16691622, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206, PMID:23775923, PMID:25983622, PMID:11462173, PMID:19903181, PMID:15324320 RGD:11568074, RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Frontonasal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 IAGP ClinVar Annotator: match by term: Frontonasal dysplasia 3 ClinVar
OMIM
PMID:20451171, PMID:24467814, PMID:27324866, PMID:28492532 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 IAGP ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
ClinVar
OMIM
PMID:15605412, PMID:16764984, PMID:19504604, PMID:23657145, PMID:23812909, PMID:24204987, PMID:24888332, PMID:25064402, PMID:25326635, PMID:25741868, PMID:26931467, PMID:28492532, PMID:31474318 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRA platelet derived growth factor receptor alpha IAGP ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:22473090, PMID:24728327, PMID:27153395, PMID:28492532 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G SATB2 SATB homeobox 2 ISS
IAGP
OMIM:119540
ClinVar Annotator: match by term: Cleft palate, isolated
MouseDO
ClinVar
PMID:25326635, PMID:25533962, PMID:25741868, PMID:26596517, PMID:29023086, PMID:32581362 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP
EXP
ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4014370, PMID:4214536, PMID:7752132, PMID:7849719, PMID:7874117, PMID:7981752, PMID:8325895, PMID:9066888, PMID:9101290, PMID:9468540, PMID:10406661, PMID:11297324, PMID:12995812, PMID:23188137, PMID:25741868, PMID:28492532 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G FLNB filamin B IAGP
EXP
ClinVar Annotator: match by term: Larsen syndrome, dominant type
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:14991055, PMID:16648377, PMID:16752402, PMID:16801345, PMID:18322662, PMID:24123776, PMID:25741868, PMID:27048506, PMID:28492532, PMID:30311386 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,400...58,172,251
JBrowse link
G FLNB-AS1 FLNB antisense RNA 1 IAGP ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders ClinVar PMID:24123776, PMID:25741868, PMID:28492532 NCBI chr 3:58,162,547...58,170,635
Ensembl chr 3:58,162,547...58,170,636
JBrowse link
lip cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 IEP RGD PMID:26723902 RGD:14975265 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
JBrowse link
Lip Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IEP RGD PMID:17238970 RGD:8662391 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G TP53 tumor protein p53 IEP RGD PMID:17238970 RGD:8662391 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 IAGP ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar NCBI chr 7:27,092,993...27,096,000
Ensembl chr 7:27,093,313...27,095,996
Ensembl chr 7:27,093,313...27,095,996
JBrowse link
G HOXA2 homeobox A2 IAGP
EXP
ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:18394579, PMID:23775976, PMID:24239177, PMID:25691070 NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686
JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 IAGP ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266, PMID:25741868 NCBI chr 7:138,706,294...138,799,839
Ensembl chr 7:138,706,294...138,799,560
JBrowse link
G INSR insulin receptor IAGP ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394, PMID:8432414, PMID:8900242, PMID:10084586, PMID:11463381, PMID:25741868, PMID:27896077, PMID:28492532 NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP ClinVar Annotator: match by term: Native American myopathy
ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA
ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
ClinVar
OMIM
PMID:23736855, PMID:25741868, PMID:28411587, PMID:28492532, PMID:28777491, PMID:30168660, PMID:31219695 NCBI chr12:57,243,453...57,251,188
Ensembl chr12:57,243,453...57,251,188
JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP ClinVar Annotator: match by term: Oculomaxillofacial dysostosis ClinVar
OMIM
PMID:21703590 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G SPECC1L-ADORA2A SPECC1L-ADORA2A readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Oculomaxillofacial dysostosis ClinVar PMID:21703590 NCBI chr22:24,270,817...24,442,360
Ensembl chr22:24,270,898...24,442,356
JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 IAGP ClinVar Annotator: match by term: Opitz GBBB syndrome, type I
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM
ClinVar
PMID:9354791, PMID:11030761, PMID:12545276, PMID:15558842, PMID:17221865, PMID:18360914, PMID:18949047, PMID:21326312, PMID:23757202, PMID:25207814, PMID:25741868, PMID:25874572, PMID:26064728, PMID:26788540, PMID:28492532 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
Oral Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN1 endothelin 1 EXP CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr 6:12,256,463...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IEP associated with Behcet Syndrome;protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G LEP leptin EXP CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr 7:128,241,201...128,257,629
Ensembl chr 7:128,241,278...128,257,629
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) RGD PMID:21719445 RGD:5147916 NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
orofacial cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS2 acyl-CoA synthetase short chain family member 2 IAGP DNA:missense mutation: :p.V496A (rs59088485) (human) RGD PMID:28543373, PMID:27229527 RGD:13831307, RGD:13831309 NCBI chr20:34,874,942...34,927,962
Ensembl chr20:34,872,146...34,927,962
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Orofacial cleft
ClinVar Annotator: match by term: Cleft lip/palate
ClinVar PMID:2449335, PMID:12800196, PMID:20921021, PMID:22470475, PMID:23197654, PMID:24033266, PMID:24493355, PMID:24728327, PMID:25593300, PMID:25637381, PMID:25741868, PMID:25980754, PMID:26072394, PMID:26123647, PMID:26467025, PMID:26483394, PMID:26759166, PMID:27146957, PMID:27153395, PMID:27443514, PMID:27616075, PMID:27930734, PMID:27978560, PMID:28135145, PMID:28492532, PMID:28640387, PMID:28944238, PMID:29348693, PMID:32260281 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,541
JBrowse link
G FST follistatin IAGP ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 5:53,480,338...53,487,134
Ensembl chr 5:53,480,626...53,487,134
JBrowse link
G GDF11 growth differentiation factor 11 IAGP ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264
JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association IAGP DNA:deletion: : (human) RGD PMID:11471167 RGD:12792251 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion:cds: (human) RGD PMID:11505167 RGD:12792210
G LOXHD1 lipoxygenase homology domains 1 susceptibility IAGP DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217, PMID:23806086, PMID:26963285 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 ISS OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MYH9 myosin heavy chain 9 IAGP DNA:SNPs
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
RGD PMID:18716610, PMID:17337617, PMID:19320731, PMID:19891592 RGD:12798509, RGD:12798514, RGD:12798512, RGD:12798511 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human) RGD PMID:27229527 RGD:13831309 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G TFAP2A transcription factor AP-2 alpha ISS OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chr 6:10,396,677...10,419,897
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN2 nectin cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G PVR PVR cell adhesion molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr19:44,643,910...44,666,162
Ensembl chr19:44,643,798...44,666,162
JBrowse link
orofacial cleft 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 IAGP ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622, PMID:27834299, PMID:28762674, PMID:28762675, PMID:28762676 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar
OMIM
PMID:16990542 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,180...202,238,608
Ensembl chr 2:202,206,180...202,238,608
JBrowse link
orofacial cleft 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 IAGP ClinVar Annotator: match by term: Orofacial cleft 11 ClinVar
OMIM
PMID:12404109, PMID:18252212, PMID:18305125, PMID:18771417, PMID:19249007, PMID:19557432, PMID:19685083, PMID:21340693, PMID:22052794, PMID:22978696, PMID:23227324, PMID:24429398, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G LOC109433677 BMP4 promoter region IAGP ClinVar Annotator: match by term: Orofacial cleft 11 ClinVar NCBI chr14:53,953,395...53,958,769 JBrowse link
orofacial cleft 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX4 distal-less homeobox 4 IAGP ClinVar Annotator: match by term: Orofacial cleft 15 ClinVar
OMIM
PMID:25954033 NCBI chr17:49,968,970...49,974,959
Ensembl chr17:49,968,970...49,974,959
JBrowse link
orofacial cleft 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSX1 msh homeobox 1 IAGP ClinVar Annotator: match by term: Orofacial cleft 5 ClinVar
OMIM
PMID:12807959, PMID:15354328, PMID:16327884, PMID:16868654, PMID:21448236, PMID:25741868, PMID:28492532 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
orofacial cleft 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 IAGP ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to OMIM
ClinVar
PMID:12219090, PMID:12920575, PMID:15317890, PMID:15472655, PMID:15558496, PMID:16096995, PMID:16160700, PMID:16211254, PMID:16998136, PMID:18209213, PMID:18617879, PMID:19036739, PMID:19282774, PMID:19449419, PMID:19623037, PMID:19734457, PMID:19842205, PMID:20184620, PMID:20301581, PMID:21045959, PMID:21468557, PMID:22440537, PMID:22488974, PMID:23154523, PMID:23394314, PMID:24936515, PMID:25326635, PMID:25547932, PMID:25548624, PMID:25741868, PMID:25784454, PMID:27834299, PMID:28492532, PMID:28945736, PMID:29453417 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188, PMID:11559849 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
orofacial cleft 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Orofacial cleft 8 ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G TP63 tumor protein p63 IAGP ClinVar Annotator: match by term: Orofacial cleft 8
ClinVar Annotator: match by term: Orofacial Cleft 8
ClinVar
OMIM
PMID:10535733, PMID:10839977, PMID:10886756, PMID:11462173, PMID:12525544, PMID:12766194, PMID:12939657, PMID:15200513, PMID:15983386, PMID:16740912, PMID:17609671, PMID:18326838, PMID:18626511, PMID:19239083, PMID:19353588, PMID:20543567, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23775923, PMID:25741868, PMID:27798044, PMID:28492532, PMID:29500247, PMID:29956718 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAST calpastatin IAGP ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar
OMIM
PMID:3527073, PMID:25683118 NCBI chr 5:96,662,037...96,774,683
Ensembl chr 5:96,525,267...96,779,595
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar PMID:3527073, PMID:25683118 NCBI chr 5:96,760,273...96,935,983
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 ClinVar
OMIM
PMID:25741868, PMID:27694961, PMID:32238909 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase IAGP
EXP
ClinVar Annotator: match by term: Peters plus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868, PMID:29584859 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,130...101,780,369
JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 IAGP ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar
OMIM
PMID:12219090, PMID:14757865, PMID:18478600, PMID:18617879, PMID:19036739, PMID:20803643, PMID:22488974, PMID:24936515, PMID:25547932, PMID:25548624, PMID:25691407, PMID:28492532, PMID:29453417 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP
ISS
IEA
ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
ClinVar
MouseDO
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
Popliteal Pterygium Syndrome, Lethal Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by term: Bartsocas-Papas syndrome
ClinVar
OMIM
PMID:10925380, PMID:15264293, PMID:22197488, PMID:22197489, PMID:23074676, PMID:23610050, PMID:25326635, PMID:25741868, PMID:26752647, PMID:28492532, PMID:28940926 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP DNA:deletion, snps, missense mutations:multiple (human)
ClinVar Annotator: match by term: Raine syndrome
ClinVar
OMIM
PMID:2020859, PMID:12868469, PMID:14564151, PMID:17924334, PMID:19250384, PMID:20825432, PMID:24033266, PMID:28492532, PMID:17924334 RGD:11560486 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 IAGP
EXP
ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10535733, PMID:10839977, PMID:10886756, PMID:11462173, PMID:12525544, PMID:12766194, PMID:12939657, PMID:15200513, PMID:15748593, PMID:15983386, PMID:17609671, PMID:18326838, PMID:18626511, PMID:19239083, PMID:19353588, PMID:19676059, PMID:20543567, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23775923, PMID:28492532, PMID:29956718 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin EXP CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482
JBrowse link
G CAV1 caveolin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,525,001...116,561,184
JBrowse link
G CELF2 CUGBP Elav-like family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:10,462,515...11,336,675
Ensembl chr10:10,798,397...11,336,675
JBrowse link
G CLU clusterin IEP mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G COPS5 COP9 signalosome subunit 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:67,043,079...67,062,133
Ensembl chr 8:67,043,079...67,083,783
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CTNNB1 catenin beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CUL1 cullin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:148,697,756...148,801,110
Ensembl chr 7:148,697,914...148,801,110
JBrowse link
G CUL4A cullin 4A EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:113,208,193...113,267,108
Ensembl chr13:113,208,193...113,267,108
JBrowse link
G DERL1 derlin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:123,013,170...123,042,302
Ensembl chr 8:123,013,170...123,042,302
JBrowse link
G ELMO1 engulfment and cell motility 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:36,852,906...37,449,326
Ensembl chr 7:36,854,361...37,449,249
JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G FBXO6 F-box protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:11,664,200...11,674,354
Ensembl chr 1:11,664,200...11,674,354
JBrowse link
G GSTM1 glutathione S-transferase mu 1 IAGP RGD PMID:28689274 RGD:14700974 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HLA-A major histocompatibility complex, class I, A susceptibility IAGP
EXP
ClinVar Annotator: match by term: Hypersensitivity syndrome, carbamazepine-induced, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16538176, PMID:21428769, PMID:23588310 NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,945,884
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP
EXP
DNA:polymorphism:cds:HLA-B*5801 (human, Japanese)
CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
CTD
OMIM
PMID:15057820, PMID:15743917, PMID:16538176, PMID:18855540, PMID:19694795, PMID:19915237, PMID:20235791, PMID:20485159, PMID:21428768, PMID:25099164, PMID:19018717, PMID:23692434 RGD:7364874, RGD:7365090 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,269,491...31,357,188
JBrowse link
G HLA-C major histocompatibility complex, class I, C EXP CTD Direct Evidence: marker/mechanism CTD PMID:19629158 NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G MIF macrophage migration inhibitory factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:55,826,917...55,993,612
Ensembl chr15:55,826,922...55,993,746
JBrowse link
G NFKBIZ NFKB inhibitor zeta ISS MouseDO NCBI chr 3:101,827,990...101,861,022
Ensembl chr 3:101,827,991...101,861,022
JBrowse link
G NOS2 nitric oxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NUCB1 nucleobindin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr19:48,900,312...48,923,372
Ensembl chr19:48,900,312...48,923,372
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,691...226,408,093
JBrowse link
G PML PML nuclear body scaffold EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:63,827,431...63,832,019
Ensembl chr17:63,827,152...63,832,026
JBrowse link
G PTGER3 prostaglandin E receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 1:70,852,358...71,047,816
Ensembl chr 1:70,852,353...71,047,808
JBrowse link
G PTGIS prostaglandin I2 synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RBX1 ring-box 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:40,951,378...40,973,309
Ensembl chr22:40,951,347...40,973,309
JBrowse link
G TNF tumor necrosis factor IEP protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G VCP valosin containing protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,056,064...35,072,627
JBrowse link
stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase ISO RGD PMID:10569634 RGD:5130878 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12085204 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CYB5A cytochrome b5 type A IEP RGD PMID:10406239 RGD:11352692 NCBI chr18:74,250,846...74,291,980
Ensembl chr18:74,250,846...74,291,973
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9234591 NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G NBN nibrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 8:89,933,331...89,984,698
Ensembl chr 8:89,933,336...90,003,228
Ensembl chr 8:89,933,336...90,003,228
JBrowse link
G XRCC1 X-ray repair cross complementing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,040...43,580,473
Ensembl chr19:43,543,040...43,580,473
JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YAP1 Yes1 associated transcriptional regulator IAGP ClinVar Annotator: match by term: Coloboma, uveal, with cleft lip and palate and mental retardation
ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
ClinVar
OMIM
PMID:4997531, PMID:24462371 NCBI chr11:102,109,957...102,233,424
Ensembl chr11:102,110,447...102,233,424
JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf74 chromosome 1 open reading frame 74 IAGP ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:14618417 NCBI chr 1:209,779,208...209,784,559
Ensembl chr 1:209,779,208...209,784,559
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IEA
IAGP
ISS
OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,319,322...24,364,482
Ensembl chr 1:24,319,322...24,364,482
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
EXP
ClinVar Annotator: match by term: Van der Woude syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12219090, PMID:12920575, PMID:14618417, PMID:14757865, PMID:15317890, PMID:15472655, PMID:15558496, PMID:16096995, PMID:16160700, PMID:16211254, PMID:16998136, PMID:17551329, PMID:18209213, PMID:18478600, PMID:18617879, PMID:18813858, PMID:19036739, PMID:19282774, PMID:19449419, PMID:19623037, PMID:19734457, PMID:19842205, PMID:20184620, PMID:20301581, PMID:21045959, PMID:21468557, PMID:22440537, PMID:22488974, PMID:23154523, PMID:24936515, PMID:25326635, PMID:25547932, PMID:25548624, PMID:25741868, PMID:25784454, PMID:27243668, PMID:27834299, PMID:28492532, PMID:29453417 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
Van der Woude Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP57 cilia and flagella associated protein 57 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:21574244 NCBI chr 1:43,172,330...43,254,358
Ensembl chr 1:43,172,330...43,254,358
Ensembl chr 1:43,172,330...43,254,358
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar
OMIM
PMID:11781685, PMID:20184620, PMID:24360809, PMID:28492532 NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,319,322...24,364,482
Ensembl chr 1:24,319,322...24,364,482
JBrowse link
Vesicular Stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EHMT2 euchromatic histone lysine methyltransferase 2 EXP CTD Direct Evidence: therapeutic CTD PMID:26418342 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,687
JBrowse link
X-linked cleft palate with or without ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC109286564 TBX22 P0 promoter IAGP ClinVar Annotator: match by term: Cleft palate X-linked ClinVar NCBI chr  X:80,014,588...80,014,843 JBrowse link
G TBX22 T-box transcription factor 22 IAGP ClinVar Annotator: match by term: Cleft palate X-linked ClinVar
OMIM
PMID:14729838, PMID:16247549, PMID:17868388, PMID:25741868, PMID:28492532 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    sensory system disease 5736
      mouth disease 788
        lip disease 188
          Hamartomatous Lip 0
          Herpes Labialis 0
          Lip Neoplasms + 3
          Phlebectasia of Lips 0
          cheilitis + 3
          cleft lip + 64
          orofacial cleft + 140
          stomatitis + 47
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17350
      nervous system disease 13440
        sensory system disease 5736
          mouth disease 788
            lip disease 188
              Hamartomatous Lip 0
              Herpes Labialis 0
              Lip Neoplasms + 3
              Phlebectasia of Lips 0
              cheilitis + 3
              cleft lip + 64
              orofacial cleft + 140
              stomatitis + 47
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.