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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 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
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 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Col5a1 collagen, type V, alpha 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Ctnnd1 catenin (cadherin associated protein), delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 2:84,587,096...84,658,977
Ensembl chr 2:84,600,071...84,650,765
Ensembl chr 2:84,600,071...84,650,765
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 Trp63 transformation related protein 63 ISO
IEA
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
OMIM:106260
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
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 chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
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 ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr13:23,702,034...23,710,854
Ensembl chr13:23,702,034...23,710,854
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
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 isoform ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT ClinVar
OMIM
PMID:29432562 NCBI chr 3:136,669,714...136,937,727
Ensembl chr 3:136,670,124...136,937,727
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Foxe1 forkhead box E1 ISO
IEA
ClinVar Annotator: match by term: Bamforth syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:241850
ClinVar Annotator: match by synonym: Hypothyroidism, thyroidal, with spiky hair and cleft palate
OMIM
ClinVar
MouseDO
CTD
PMID:2918525, PMID:9697705, PMID:12165566, PMID:16882747, PMID:16884476, PMID:21177256, PMID:25381600, PMID:25741868, PMID:28492532 NCBI chr 4:46,343,644...46,345,774
Ensembl chr 4:46,343,609...46,346,412
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 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817, PMID:25741868, PMID:25792360, PMID:28492532, PMID:30039206 NCBI chr 7:44,876,765...44,892,705
Ensembl chr 7:44,876,765...44,892,712
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, family A member 5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 6:140,423,639...140,597,110
Ensembl chr 6:140,424,054...140,597,110
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 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:8033105, PMID:27566442, PMID:28301459, PMID:32260281 NCBI chr 8:106,603,350...106,670,247
Ensembl chr 8:106,603,351...106,670,246
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin (cadherin associated protein), delta 1 ISO 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 chr 2:84,587,096...84,658,977
Ensembl chr 2:84,600,071...84,650,765
Ensembl chr 2:84,600,071...84,650,765
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 ISO 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 chr19:29,609,876...29,648,415
Ensembl chr19:29,608,214...29,648,415
JBrowse link
G Ric1 RAB6A GEF complex partner 1 ISO 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 chr19:29,522,216...29,605,921
Ensembl chr19:29,522,282...29,606,829
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, sub-family A (ABC1), member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 3:121,953,113...122,016,677
Ensembl chr 3:121,952,541...122,016,753
JBrowse link
G Bhmt2 betaine-homocysteine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:93,656,097...93,674,302
Ensembl chr13:93,655,720...93,674,302
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
DNA:polymorphism:cds:p.V152A(human)
ClinVar PMID:12404109, PMID:18771417, PMID:19249007, PMID:19557432, PMID:23227324, PMID:25741868, PMID:23227324, PMID:18771417 RGD:13442497, RGD:13442495 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Cdh1 cadherin 1 susceptibility ISO 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 chr 8:106,603,350...106,670,247
Ensembl chr 8:106,603,351...106,670,246
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Ctnnd1 catenin (cadherin associated protein), delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 2:84,587,096...84,658,977
Ensembl chr 2:84,600,071...84,650,765
Ensembl chr 2:84,600,071...84,650,765
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:117,877,982...118,199,043
Ensembl chr12:117,877,982...118,199,043
JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 8:106,130,319...106,137,193
Ensembl chr 8:106,130,319...106,136,974
JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:38,838,672...38,929,470
Ensembl chr18:38,838,673...38,929,472
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:118,714,699...118,792,573
Ensembl chr13:118,669,791...118,792,115
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:144,838,612...144,843,348
Ensembl chr 7:144,838,083...144,844,436
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:126,034,658...126,091,185
Ensembl chr 2:126,034,658...126,091,185
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:45,736,491...45,742,941
Ensembl chr19:45,736,798...45,742,915
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:58,070,671...58,112,854
Ensembl chr14:58,070,547...58,112,720
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human)
CTD PMID:17963255, PMID:24613087 RGD:11567264 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:130,162,451...130,266,808
Ensembl chr 7:130,162,451...133,123,350
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Irf6 interferon regulatory factor 6 ISO
IEA
van der Woude syndrome, OMIM:119300
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:17041601, PMID:18836445, PMID:20436469, PMID:12219090 RGD:1600214 NCBI chr 1:193,153,112...193,172,036
Ensembl chr 1:193,153,111...193,172,023
JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G LOC109433675 Bmp4 promoter region ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr14:46,386,084...46,392,983 JBrowse link
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 2:160,363,677...160,367,065
Ensembl chr 2:160,363,703...160,367,065
JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility
no_association
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:25129243, PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr12:76,254,406...76,319,820
Ensembl chr12:76,255,298...76,319,803
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)
CTD PMID:16470725, PMID:27387868 RGD:11565179 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Mthfs 5, 10-methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:89,211,190...89,240,225
Ensembl chr 9:89,210,676...89,377,713
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 9:43,737,075...43,807,461
Ensembl chr 9:43,743,984...43,832,658
Ensembl chr 9:43,743,984...43,832,658
JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627, PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr11:89,300,638...89,302,559
Ensembl chr11:89,300,638...89,302,332
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr11:68,209,364...68,386,826
Ensembl chr11:68,209,364...68,400,823
JBrowse link
G Plekha5 pleckstrin homology domain containing, family A member 5 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 6:140,423,639...140,597,110
Ensembl chr 6:140,424,054...140,597,110
JBrowse link
G Plekha7 pleckstrin homology domain containing, family A member 7 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 7:116,123,485...116,308,383
Ensembl chr 7:116,123,485...116,308,376
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 2:32,236,590...32,255,005
Ensembl chr 2:32,236,590...32,255,005
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr15:32,920,723...33,034,721
Ensembl chr15:32,920,723...33,034,935
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human)
CTD PMID:21254359, PMID:18797703 RGD:11565176 NCBI chr10:77,032,269...77,050,432
Ensembl chr10:77,032,241...77,061,002
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr14:105,891,947...105,896,819
Ensembl chr14:105,891,947...105,896,819
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16990542 NCBI chr 1:59,639,434...59,670,834
Ensembl chr 1:59,586,558...59,670,834
JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr11:3,917,077...3,932,078
Ensembl chr11:3,917,192...3,932,159
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr 1:167,308,670...167,333,978
Ensembl chr 1:167,308,378...167,333,978
JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16688749 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
G Tyms thymidylate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:30,038,546...30,073,645
Ensembl chr 5:30,058,202...30,073,617
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 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:225060
OMIM
ClinVar
CTD
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 chr 9:43,737,075...43,807,461
Ensembl chr 9:43,743,984...43,832,658
Ensembl chr 9:43,743,984...43,832,658
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bhmt2 betaine-homocysteine methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:93,656,097...93,674,302
Ensembl chr13:93,655,720...93,674,302
JBrowse link
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 4:84,266,804...84,676,029
Ensembl chr 4:84,275,095...84,675,275
JBrowse link
G Cask calcium/calmodulin-dependent serine protein kinase (MAGUK family) ISO
IMP
CTD Direct Evidence: marker/mechanism
DNA:insertion
CTD PMID:9787075, PMID:9787075 RGD:11576291 NCBI chr  X:13,517,080...13,846,783
Ensembl chr  X:13,517,080...13,851,367
JBrowse link
G Cbfb core binding factor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 8:105,170,674...105,217,989
Ensembl chr 8:105,170,674...105,217,989
JBrowse link
G Chuk conserved helix-loop-helix ubiquitous kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr19:44,073,334...44,107,505
Ensembl chr19:44,073,335...44,107,480
JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)
RGD PMID:20672350, PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr17:34,038,919...34,066,684
Ensembl chr17:34,039,437...34,066,685
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col2a1 collagen, type II, alpha 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)
CTD PMID:15562585, PMID:20672350 RGD:12436724 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr16:31,663,443...31,873,356
Ensembl chr16:31,663,443...31,875,129
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:117,877,982...118,199,043
Ensembl chr12:117,877,982...118,199,043
JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 3:129,677,574...129,755,322
Ensembl chr 3:129,677,565...129,755,316
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:118,714,699...118,792,573
Ensembl chr13:118,669,791...118,792,115
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 7:144,838,612...144,843,348
Ensembl chr 7:144,838,083...144,844,436
JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:126,034,658...126,091,185
Ensembl chr 2:126,034,658...126,091,185
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:45,736,491...45,742,941
Ensembl chr19:45,736,798...45,742,915
JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:58,070,671...58,112,854
Ensembl chr14:58,070,547...58,112,720
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255, PMID:29526646 NCBI chr 7:130,162,451...130,266,808
Ensembl chr 7:130,162,451...133,123,350
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 NCBI chr  X:74,223,461...74,249,854
Ensembl chr  X:74,223,461...74,249,820
JBrowse link
G Flnb filamin, beta susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr14:7,817,921...7,951,588
Ensembl chr14:7,817,957...7,951,588
JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 7:89,404,366...89,410,110
Ensembl chr 7:89,404,355...89,413,134
JBrowse link
G Gata6 GATA binding protein 6 IEP protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:11,052,510...11,085,636
Ensembl chr18:11,052,064...11,085,635
JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 IMP RGD PMID:18816854 RGD:12738224 NCBI chr13:15,463,723...15,730,026
Ensembl chr13:15,463,235...15,730,026
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO 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 4:155,491,300...155,559,269
Ensembl chr 4:155,491,361...155,559,269
JBrowse link
G Golgb1 golgi autoantigen, golgin subfamily b, macrogolgin 1 IEA MouseDO NCBI chr16:36,875,093...36,933,085
Ensembl chr16:36,875,140...36,933,085
JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 NCBI chr 4:135,541,887...135,573,632
Ensembl chr 4:135,541,888...135,573,630
JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 1:52,785,425...52,817,688
Ensembl chr 1:52,785,427...52,817,688
JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12920575, PMID:17041601, PMID:25741868, PMID:12219090, PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr 1:193,153,112...193,172,036
Ensembl chr 1:193,153,111...193,172,023
JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 7:79,698,098...79,715,772
Ensembl chr 7:79,698,098...79,715,720
JBrowse link
G Mnt max binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr11:74,830,806...74,845,725
Ensembl chr11:74,830,920...74,845,725
JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12163415, PMID:12701100, PMID:15301380, PMID:12807959 RGD:5132609 NCBI chr 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr12:76,254,406...76,319,820
Ensembl chr12:76,255,298...76,319,803
JBrowse link
G Mthfs 5, 10-methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:89,211,190...89,240,225
Ensembl chr 9:89,210,676...89,377,713
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:12,181,331...12,258,199
Ensembl chr13:12,182,712...12,258,113
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 9:43,737,075...43,807,461
Ensembl chr 9:43,743,984...43,832,658
Ensembl chr 9:43,743,984...43,832,658
JBrowse link
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:64,884,480...65,217,826
Ensembl chr18:64,887,705...65,217,828
JBrowse link
G Nek9 NIMA (never in mitosis gene a)-related expressed kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr12:85,299,514...85,339,362
Ensembl chr12:85,299,514...85,339,362
JBrowse link
G Nfia nuclear factor I/A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 4:97,578,066...98,118,876
Ensembl chr 4:97,772,734...98,118,874
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:24,364,816...24,384,474
Ensembl chr 5:24,364,810...24,384,474
JBrowse link
G Pax9 paired box 9 IGI RGD PMID:17097601 RGD:12801424 NCBI chr12:56,691,693...56,712,824
Ensembl chr12:56,691,767...56,712,822
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 IMP RGD PMID:12975342 RGD:12910559 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO 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 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr15:102,234,938...102,257,522
Ensembl chr15:102,234,938...102,257,517
JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr13:53,109,317...53,286,124
Ensembl chr13:53,109,312...53,286,124
JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 9:102,834,920...102,908,307
Ensembl chr 9:102,834,917...102,908,305
JBrowse link
G Satb2 special AT-rich sequence binding protein 2 ISO 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 1:56,793,981...56,981,190
Ensembl chr 1:56,793,981...56,978,650
JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr15:32,920,723...33,034,721
Ensembl chr15:32,920,723...33,034,935
JBrowse link
G Shh sonic hedgehog IGI RGD PMID:17097601 RGD:12801424 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Shox2 short stature homeobox 2 IMP RGD PMID:16141225 RGD:12859081 NCBI chr 3:66,971,723...66,981,771
Ensembl chr 3:66,971,727...66,981,771
JBrowse link
G Sim2 single-minded family bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr16:94,085,104...94,127,032
Ensembl chr16:94,084,931...94,127,032
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr10:77,032,269...77,050,432
Ensembl chr10:77,032,241...77,061,002
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr 9:21,616,106...21,704,230
Ensembl chr 9:21,616,169...21,704,230
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr14:105,891,947...105,896,819
Ensembl chr14:105,891,947...105,896,819
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 1:59,639,434...59,670,834
Ensembl chr 1:59,586,558...59,670,834
JBrowse link
G Tbx22 T-box 22 ISO cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
ClinVar PMID:25741868, PMID:12374769 RGD:724722 NCBI chr  X:107,667,964...107,688,980
Ensembl chr  X:107,667,964...107,688,978
JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 7:96,171,244...96,911,093
Ensembl chr 7:96,171,246...96,911,093
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:186,622,787...186,709,697
Ensembl chr 1:186,622,792...186,705,989
JBrowse link
G Tgfb3 transforming growth factor, beta 3 IMP
ISO
CTD Direct Evidence: marker/mechanism CTD PMID:7493022, PMID:26971374, PMID:17097601 RGD:12801424 NCBI chr12:86,056,743...86,079,041
Ensembl chr12:86,056,745...86,079,041
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 1:167,308,670...167,333,978
Ensembl chr 1:167,308,378...167,333,978
JBrowse link
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
G Tspan1 tetraspanin 1 ISO 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 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr 2:76,703,980...76,982,557
Ensembl chr 2:76,703,980...76,982,547
JBrowse link
G Tyms thymidylate synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:30,038,546...30,073,645
Ensembl chr 5:30,058,202...30,073,617
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 22 ISO ClinVar Annotator: match by null ClinVar PMID:2563678, PMID:11559848, PMID:12374769, PMID:14729838, PMID:22784330 NCBI chr  X:107,667,964...107,688,980
Ensembl chr  X:107,667,964...107,688,978
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 ISO ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:24678003, PMID:25741868, PMID:27225850, PMID:28492532 NCBI chr 2:115,861,264...116,067,537
Ensembl chr 2:115,863,064...116,065,839
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 ISO ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr 7:98,489,305...98,501,831
Ensembl chr 7:98,489,283...98,502,181
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 (K)-specific demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features
ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
OMIM
ClinVar
PMID:23020937, PMID:24838796, PMID:25741868, PMID:26656649 NCBI chr 4:136,550,533...136,602,787
Ensembl chr 4:136,550,540...136,602,723
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 ISO 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 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
JBrowse link
G Tgfbr2 transforming growth factor, beta receptor II IEA OMIM:119570 MouseDO NCBI chr 9:116,087,695...116,175,363
Ensembl chr 9:116,084,293...116,175,360
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 Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728, PMID:23324645, PMID:26637975 NCBI chr17:35,833,920...35,838,301
Ensembl chr17:35,833,921...35,838,306
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 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar
PMID:19182162, PMID:21262397, PMID:26637975 NCBI chr18:23,752,333...23,893,861
Ensembl chr18:23,752,333...23,893,861
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 ISO ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by OMIM:114300
OMIM
ClinVar
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 chr18:63,010,213...63,387,716
Ensembl chr18:63,010,213...63,387,183
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 LOC111162622 DeltaNp63 promoter of tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ClinVar NCBI chr16:25,801,704...25,802,304 JBrowse link
G Trp63 transformation related protein 63 susceptibility ISO
IEA
DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
OMIM:604292
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar Annotator: match by OMIM:604292
ClinVar Annotator: match by null
ClinVar
CTD
MouseDO
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 chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO
IMP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
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)
DNA:missense mutation:exon:p.R318H (mouse)
CTD
ClinVar
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:25983622, PMID:11462173, PMID:19903181, PMID:15324320, PMID:23775923 RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
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 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3
ClinVar Annotator: match by OMIM:613456
OMIM
ClinVar
PMID:20451171, PMID:24467814, PMID:27324866, PMID:28492532 NCBI chr10:103,007,847...103,029,549
Ensembl chr10:102,998,707...103,030,215
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 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hartsfield syndrome
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 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
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 polypeptide ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:22473090, PMID:24728327, PMID:27153395, PMID:28492532 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Satb2 special AT-rich sequence binding protein 2 IEA
ISO
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 1:56,793,981...56,981,190
Ensembl chr 1:56,793,981...56,978,650
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 ISO ClinVar Annotator: match by term: Kniest dysplasia
ClinVar Annotator: match by OMIM:156550
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
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 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr10:60,181,527...60,222,114
Ensembl chr10:60,181,532...60,219,260
JBrowse link
G Flnb filamin, beta ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders
ClinVar Annotator: match by term: Larsen syndrome, dominant type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:150250
OMIM
ClinVar
CTD
PMID:14991055, PMID:16648377, PMID:16752402, PMID:16801345, PMID:18322662, PMID:24123776, PMID:25741868, PMID:27048506, PMID:28492532, PMID:30311386 NCBI chr14:7,817,921...7,951,588
Ensembl chr14:7,817,957...7,951,588
JBrowse link
lip cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
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 (P21) ISO RGD PMID:17238970 RGD:8662391 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Trp53 transformation related protein 53 ISO RGD PMID:17238970 RGD:8662391 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
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 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar NCBI chr 6:52,155,367...52,160,007
Ensembl chr 6:52,155,590...52,158,317
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
ClinVar Annotator: match by OMIM:612290
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18394579, PMID:23775976, PMID:24239177, PMID:25691070 NCBI chr 6:52,162,417...52,164,831
Ensembl chr 6:52,162,417...52,164,831
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, lysosomal V0 subunit A4 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266, PMID:25741868 NCBI chr 6:38,048,483...38,124,586
Ensembl chr 6:38,048,483...38,124,586
JBrowse link
G Insr insulin receptor ISO 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 chr 8:3,150,922...3,279,649
Ensembl chr 8:3,122,061...3,279,617
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO 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 Annotator: match by term: Native American myopathy
OMIM
ClinVar
PMID:23736855, PMID:25741868, PMID:28411587, PMID:28492532, PMID:28777491, PMID:30168660, PMID:31219695 NCBI chr10:127,501,617...127,508,823
Ensembl chr10:127,501,686...127,508,823
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 ISO ClinVar Annotator: match by OMIM:600251 OMIM
ClinVar
PMID:21703590 NCBI chr10:75,212,037...75,312,400
Ensembl chr10:75,212,073...75,312,743
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 ISO 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:169,685,199...169,990,798
Ensembl chr  X:169,685,199...170,005,736
JBrowse link
Oral Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr13:42,301,476...42,307,990
Ensembl chr13:42,301,476...42,307,990
JBrowse link
G Hspd1 heat shock protein 1 (chaperonin) ISO associated with Behcet Syndrome;protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Lep leptin ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr 6:29,060,221...29,073,876
Ensembl chr 6:29,060,220...29,073,877
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) RGD PMID:21719445 RGD:5147916 NCBI chr 1:51,987,106...52,107,189
Ensembl chr 1:51,987,148...52,107,189
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 ISO DNA:missense mutation: :p.V496A (rs59088485) (human) RGD PMID:28543373, PMID:27229527 RGD:13831307, RGD:13831309 NCBI chr 2:155,518,043...155,562,743
Ensembl chr 2:155,517,948...155,585,724
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Orofacial cleft 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 NCBI chr 8:106,603,350...106,670,247
Ensembl chr 8:106,603,351...106,670,246
JBrowse link
G Fst follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr13:114,452,262...114,458,989
Ensembl chr13:114,452,290...114,458,951
JBrowse link
G Gdf11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr10:128,880,524...128,891,718
Ensembl chr10:128,882,295...128,891,718
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 no_association ISO DNA:deletion: : (human) RGD PMID:11471167 RGD:12792251 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion:cds: (human) RGD PMID:11505167 RGD:12792210 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr18:77,281,658...77,442,932
Ensembl chr18:77,281,958...77,442,930
JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217, PMID:23806086, PMID:26963285 NCBI chr 6:134,446,476...134,566,913
Ensembl chr 6:134,446,476...134,566,965
JBrowse link
G Msx1 msh homeobox 1 IEA 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 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO 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 chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Phyh phytanoyl-CoA hydroxylase ISO DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human) RGD PMID:27229527 RGD:13831309 NCBI chr 2:4,918,996...4,938,743
Ensembl chr 2:4,919,019...4,938,730
JBrowse link
G Tfap2a transcription factor AP-2, alpha IEA 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 chr13:40,713,802...40,738,238
Ensembl chr13:40,715,302...40,738,376
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 7:19,716,644...19,749,573
Ensembl chr 7:19,716,644...19,750,483
JBrowse link
G Phyh phytanoyl-CoA hydroxylase ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344, PMID:14974078, PMID:16186124, PMID:25741868, PMID:27229527, PMID:28492532 NCBI chr 2:4,918,996...4,938,743
Ensembl chr 2:4,919,019...4,938,730
JBrowse link
G Pvr poliovirus receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 7:19,903,578...19,921,143
Ensembl chr 7:19,903,578...19,921,160
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 ISO ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622, PMID:27834299, PMID:28762674, PMID:28762675, PMID:28762676 NCBI chr 1:193,153,112...193,172,036
Ensembl chr 1:193,153,111...193,172,023
JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Orofacial cleft 10
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16990542 NCBI chr 1:59,639,434...59,670,834
Ensembl chr 1:59,586,558...59,670,834
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 ISO ClinVar Annotator: match by term: Orofacial cleft 11
ClinVar Annotator: match by OMIM:600625
OMIM
ClinVar
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 chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G LOC109433675 Bmp4 promoter region ISO ClinVar Annotator: match by term: Orofacial cleft 11 ClinVar NCBI chr14:46,386,084...46,392,983 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 ISO ClinVar Annotator: match by term: Orofacial cleft 15 ClinVar
OMIM
PMID:25954033 NCBI chr11:95,140,447...95,146,294
Ensembl chr11:95,140,447...95,146,263
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 ISO ClinVar Annotator: match by term: Orofacial cleft 5
ClinVar Annotator: match by OMIM:608874
OMIM
ClinVar
PMID:12807959, PMID:15354328, PMID:16327884, PMID:16868654, PMID:21448236, PMID:25741868, PMID:28492532 NCBI chr 5:37,820,491...37,824,585
Ensembl chr 5:37,820,485...37,824,583
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 ISO 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 1:193,153,112...193,172,036
Ensembl chr 1:193,153,111...193,172,023
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 ISO ClinVar Annotator: match by null ClinVar PMID:10932188, PMID:11559849 NCBI chr 9:43,737,075...43,807,461
Ensembl chr 9:43,743,984...43,832,658
Ensembl chr 9:43,743,984...43,832,658
JBrowse link
orofacial cleft 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by null
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 chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
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 ISO ClinVar Annotator: match by OMIM:616295 ClinVar
OMIM
PMID:3527073, PMID:25683118 NCBI chr13:74,692,366...74,808,874
Ensembl chr13:74,692,368...74,808,810
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS ClinVar PMID:3527073, PMID:25683118 NCBI chr13:74,639,573...74,693,205
Ensembl chr13:74,639,568...74,693,201
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7
ClinVar Annotator: match by term: Periventricular nodular heterotopia 7
ClinVar
OMIM
PMID:25741868, PMID:27694961, PMID:32238909 NCBI chr18:64,884,480...65,217,826
Ensembl chr18:64,887,705...65,217,828
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 ISO
IEA
ClinVar Annotator: match by term: Peters plus syndrome
OMIM:261540
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:261540
OMIM
ClinVar
MouseDO
CTD
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 chr 5:149,678,100...149,762,599
Ensembl chr 5:149,678,230...149,762,599
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868, PMID:29584859 NCBI chr19:45,736,491...45,742,941
Ensembl chr19:45,736,798...45,742,915
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 ISO
IEA
ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
ClinVar Annotator: match by OMIM:119500
OMIM
ClinVar
MouseDO
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 1:193,153,112...193,172,036
Ensembl chr 1:193,153,111...193,172,023
JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
ISS
IEA
ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
ClinVar
MouseDO
NCBI chr16:97,741,933...97,763,779
Ensembl chr16:97,741,933...97,763,787
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 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome
ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by OMIM:263650
OMIM
ClinVar
PMID:10925380, PMID:15264293, PMID:22197488, PMID:22197489, PMID:23074676, PMID:23610050, PMID:25326635, PMID:25741868, PMID:26752647, PMID:28492532, PMID:28940926 NCBI chr16:97,741,933...97,763,779
Ensembl chr16:97,741,933...97,763,787
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 ISO ClinVar Annotator: match by term: Raine syndrome
DNA:deletion, snps, missense mutations:multiple (human)
ClinVar Annotator: match by OMIM:259775
OMIM
ClinVar
PMID:2020859, PMID:12868469, PMID:14564151, PMID:17924334, PMID:19250384, PMID:20825432, PMID:24033266, PMID:28492532, PMID:17924334 RGD:11560486 NCBI chr 5:138,755,081...138,810,063
Ensembl chr 5:138,754,514...138,810,077
JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO 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 chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Celf2 CUGBP, Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:6,539,694...7,396,341
Ensembl chr 2:6,539,694...7,509,563
JBrowse link
G Clu clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Cops5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:10,024,600...10,038,159
Ensembl chr 1:10,024,601...10,038,168
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Cul1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 6:47,453,732...47,526,144
Ensembl chr 6:47,453,398...47,526,139
JBrowse link
G Cul4a cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:13,105,623...13,147,940
Ensembl chr 8:13,105,621...13,147,940
JBrowse link
G Derl1 Der1-like domain family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:57,869,502...57,892,418
Ensembl chr15:57,869,502...57,892,448
JBrowse link
G Elmo1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:20,090,507...20,608,353
Ensembl chr13:20,090,596...20,608,353
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Fbxo6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:148,145,716...148,152,135
Ensembl chr 4:148,145,716...148,152,140
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO RGD PMID:28689274 RGD:14700974 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
PMID:15057820, PMID:15743917, PMID:16538176, PMID:18855540, PMID:19694795, PMID:19915237, PMID:20235791, PMID:20485159, PMID:21428768, PMID:25099164 NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 susceptibility ISO 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 chr17:35,320,525...35,328,142
Ensembl chr17:35,320,405...35,325,099
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 susceptibility ISO DNA:polymorphisms:cds:HLA-B*5801 (human, Japanese)
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
RGD PMID:19018717, PMID:23692434 RGD:7364874, RGD:7365090 NCBI chr17:35,379,617...35,384,674
Ensembl chr17:35,379,617...35,385,290
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Mif macrophage migration inhibitory factor (glycosylation-inhibiting factor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr10:75,859,353...75,860,277
Ensembl chr10:75,859,353...75,860,240
JBrowse link
G Nedd4 neural precursor cell expressed, developmentally down-regulated 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:72,662,331...72,749,851
Ensembl chr 9:72,662,346...72,749,852
JBrowse link
G Nfkbiz nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, zeta IEA MouseDO NCBI chr16:55,811,375...55,838,954
Ensembl chr16:55,811,375...55,838,899
JBrowse link
G Nos2 nitric oxide synthase 2, inducible ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr11:78,920,787...78,960,226
Ensembl chr11:78,920,787...78,960,254
JBrowse link
G Nucb1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:45,492,674...45,510,408
Ensembl chr 7:45,490,458...45,510,406
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:180,568,891...180,600,999
Ensembl chr 1:180,568,924...180,601,254
JBrowse link
G Pml promyelocytic leukemia ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:58,217,179...58,249,796
Ensembl chr 9:58,218,076...58,249,786
JBrowse link
G Psmc5 protease (prosome, macropain) 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr11:106,256,185...106,263,112
Ensembl chr11:106,256,154...106,263,120
JBrowse link
G Ptger3 prostaglandin E receptor 3 (subtype EP3) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 3:157,566,821...157,644,758
Ensembl chr 3:157,566,892...157,645,888
JBrowse link
G Ptgis prostaglandin I2 (prostacyclin) synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 2:167,203,194...167,252,150
Ensembl chr 2:167,191,805...167,240,604
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rbx1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:81,466,316...81,476,369
Ensembl chr15:81,466,296...81,476,369
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Vcp valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
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 chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism CTD PMID:12085204 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Cyb5a cytochrome b5 type A (microsomal) ISO RGD PMID:10406239 RGD:11352692 NCBI chr18:84,851,338...84,879,871
Ensembl chr18:84,838,704...84,879,871
JBrowse link
G Nbn nibrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 4:15,957,587...15,992,589
Ensembl chr 4:15,957,925...15,992,589
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 7:24,546,699...24,573,438
Ensembl chr 7:24,546,289...24,573,440
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 yes-associated protein 1 ISO ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
ClinVar Annotator: match by OMIM:120433
OMIM
ClinVar
PMID:4997531, PMID:24462371 NCBI chr 9:7,931,999...8,004,638
Ensembl chr 9:7,931,999...8,004,596
JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A130010J15Rik RIKEN cDNA A130010J15 gene ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:14618417 NCBI chr 1:193,173,469...193,177,837
Ensembl chr 1:193,168,046...193,177,832
JBrowse link
G Grhl3 grainyhead like transcription factor 3 IEA
ISO
ISS
OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr 4:135,541,887...135,573,632
Ensembl chr 4:135,541,888...135,573,630
JBrowse link
G Irf6 interferon regulatory factor 6 ISO
IEA
ClinVar Annotator: match by term: Van der Woude syndrome
OMIM:119300 | OMIM:606713
ClinVar Annotator: match by OMIM:119300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
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 1:193,153,112...193,172,036
Ensembl chr 1:193,153,111...193,172,023
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 ISO ClinVar Annotator: match by null ClinVar PMID:21574244 NCBI chr 4:118,554,550...118,620,819
Ensembl chr 4:118,554,551...118,620,777
JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11781685, PMID:20184620, PMID:24360809, PMID:28492532 NCBI chr 4:135,541,887...135,573,632
Ensembl chr 4:135,541,888...135,573,630
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 N-methyltransferase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26418342 NCBI chr17:34,898,463...34,914,073
Ensembl chr17:34,898,469...34,914,052
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 Tbx22 T-box 22 ISO
IEA
ClinVar Annotator: match by term: Cleft palate X-linked
OMIM:303400
ClinVar Annotator: match by OMIM:303400
OMIM
ClinVar
MouseDO
PMID:14729838, PMID:16247549, PMID:17868388, PMID:25741868, PMID:28492532 NCBI chr  X:107,667,964...107,688,980
Ensembl chr  X:107,667,964...107,688,978
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    sensory system disease 5054
      mouth disease 755
        lip disease 180
          Hamartomatous Lip 0
          Herpes Labialis 0
          Lip Neoplasms + 3
          Phlebectasia of Lips 0
          cheilitis + 3
          cleft lip + 60
          orofacial cleft + 133
          stomatitis + 46
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      nervous system disease 10459
        sensory system disease 5054
          mouth disease 755
            lip disease 180
              Hamartomatous Lip 0
              Herpes Labialis 0
              Lip Neoplasms + 3
              Phlebectasia of Lips 0
              cheilitis + 3
              cleft lip + 60
              orofacial cleft + 133
              stomatitis + 46
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.