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: Maxillofacial Abnormalities
Accession: DOID:9004563
browse the term
Definition: Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Synonyms: exact_synonym: Maxillofacial Abnormality
primary_id: MESH:D019767 ; RDO:0000753
For additional species annotation, visit the
Alliance of Genome Resources .
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Col3a1
collagen type III alpha 1 chain
IDA
RGD
PMID:10373016
RGD:704391
NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
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Mthfr
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16832597
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Tbx22
T-box transcription factor 22
ISO
ClinVar Annotator: match by OMIM:302905
OMIM ClinVar
PMID:839509 PMID:22784330
NCBI chr X:78,731,738...78,782,542
Ensembl chr X:78,769,419...78,782,542
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Foxh1
forkhead box H1
ISS
OMIM:202650
MouseDO
NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
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Prrx1
paired related homeobox 1
ISO
ClinVar Annotator: match by term: Agnathia-otocephaly complex ClinVar Annotator: match by term: Dysgnathia complex CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:202650
OMIM ClinVar CTD
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 PMID:25741868
NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
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Trappc10
trafficking protein particle complex 10
ISS
OMIM:202650
MouseDO
NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
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Col4a3
collagen type IV alpha 3 chain
ISO
ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum
ClinVar
PMID:30311386
NCBI chr 9:88,357,528...88,484,735
Ensembl chr 9:88,357,556...88,485,830
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum
ClinVar
PMID:30311386
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum
ClinVar
PMID:30311386
NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
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Tp63
tumor protein p63
ISO
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 DNA:missense mutations:exon:multiple CTD Direct Evidence: marker/mechanism
OMIM ClinVar 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 chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Ppp3ca
protein phosphatase 3 catalytic subunit alpha
ISO
ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar OMIM
PMID:29432562
NCBI chr 2:241,909,332...242,186,861
Ensembl chr 2:241,909,832...242,184,854
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Prickle1
prickle planar cell polarity protein 1
ISS
OMIM:268310
MouseDO
NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
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Ror2
receptor tyrosine kinase-like orphan receptor 2
ISO
ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive ClinVar Annotator: match by OMIM:268310 CTD Direct Evidence: marker/mechanism DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human) DNA:nonsense mutation:cds:p.W749X(mouse) ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly ClinVar Annotator: match by null
OMIM ClinVar CTD
PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 PMID:16049033 PMID:17665217 PMID:18252861 PMID:18414213 PMID:18831060 PMID:19640924 PMID:25741868 PMID:26284319 PMID:28492532 , PMID:24932600 , PMID:14745966 , PMID:18353862
RGD:11537348 , RGD:11537347 , RGD:11535948
NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16884476
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Foxe1
forkhead box E1
ISO
ClinVar Annotator: match by term: Bamforth syndrome 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 CTD
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 PMID:21177256 PMID:25381600 PMID:25741868 PMID:28492532
NCBI chr 5:61,954,549...61,957,357
Ensembl chr 5:61,954,549...61,957,357
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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 1:100,872,240...100,887,864
Ensembl chr 1:100,874,976...100,887,853
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Plekha5
pleckstrin homology domain containing A5
ISO
ClinVar Annotator: match by term: Bilateral cleft lip
ClinVar
PMID:25741868
NCBI chr 4:174,605,462...174,774,692
Ensembl chr 4:174,605,476...174,774,693
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Cdh1
cadherin 1
ISO
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1
OMIM ClinVar
PMID:8033105 PMID:27566442 PMID:28301459 PMID:32260281
NCBI chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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Ctnnd1
catenin 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 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
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Mymk
myomaker, myoblast fusion factor
ISO
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences
ClinVar OMIM
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436
NCBI chr 3:5,608,243...5,617,689
Ensembl chr 3:5,608,243...5,617,225
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Kynu
kynureninase
ISO
ClinVar Annotator: match by term: Catel Manzke syndrome
ClinVar
PMID:25741868 PMID:31923704
NCBI chr 3:28,416,926...28,566,939
Ensembl chr 3:28,416,954...28,566,928
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Tgds
TDP-glucose 4,6-dehydratase
ISO
ClinVar Annotator: match by term: Catel Manzke syndrome
ClinVar OMIM
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375
NCBI chr15:103,319,268...103,340,239
Ensembl chr15:103,319,268...103,340,240
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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 chr 1:247,784,830...247,821,771
Ensembl chr 1:247,787,582...247,821,728
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Ric1
RIC1 homolog, 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 chr 1:247,688,778...247,784,219
Ensembl chr 1:247,688,789...247,781,875
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Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 2
OMIM ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:32860008
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 2
ClinVar
PMID:17160895 PMID:28492532
NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 3
OMIM ClinVar
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 3
ClinVar
PMID:18060436 PMID:20623299 PMID:28492532
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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Snrpb
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA
ClinVar OMIM
PMID:25047197 PMID:25504470 PMID:26240113 PMID:26971886
NCBI chr 3:122,696,125...122,703,734
Ensembl chr 3:122,695,939...122,703,734
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Fam193a
family with sequence similarity 193, member A
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:81,515,897...81,638,919
Ensembl chr14:81,516,407...81,638,934
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Haus3
HAUS augmin-like complex, subunit 3
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:81,837,772...81,857,458
Ensembl chr14:81,837,809...81,856,830
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Mxd4
Max dimerization protein 4
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:81,819,415...81,833,456
Ensembl chr14:81,819,415...81,833,456
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Nat8l
N-acetyltransferase 8-like
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:82,041,616...82,048,251
Ensembl chr14:82,041,616...82,048,251
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Poln
DNA polymerase nu
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:81,837,764...82,037,999
Ensembl chr14:81,858,737...82,037,747
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Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
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Rnf4
ring finger protein 4
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:81,658,400...81,679,756
Ensembl chr14:81,660,354...81,679,082
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Sh3bp2
SH3-domain binding protein 2
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar Annotator: match by term: Cherubism ClinVar Annotator: match by OMIM:118400
ClinVar OMIM
PMID:11381256 PMID:12900899 PMID:14577811 PMID:16786512 PMID:17321449 PMID:18596838 PMID:21045962 PMID:21794028 PMID:22153076 PMID:22153077 PMID:22795151 PMID:23298620 PMID:24033266 PMID:24382142 PMID:24608212 PMID:24916406 PMID:25144740 PMID:25741868 PMID:26064398 PMID:27272835 PMID:28492532 PMID:28644570 PMID:30236129 , PMID:11381256
RGD:1599339
NCBI chr14:81,435,445...81,473,013
Ensembl chr14:81,435,449...81,472,952
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Tnip2
TNFAIP3 interacting protein 2
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:81,487,934...81,505,889
Ensembl chr14:81,488,008...81,504,686
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Zfyve28
zinc finger FYVE-type containing 28
ISO
ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar
PMID:28492532
NCBI chr14:81,725,513...81,811,142
Ensembl chr14:81,725,513...81,811,142
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Abca4
ATP binding cassette subfamily A member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20436469
NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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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 2:225,552,075...225,613,349
Ensembl chr 2:225,552,148...225,613,359
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Bhmt2
betaine-homocysteine S-methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 2:23,272,320...23,289,266
Ensembl chr 2:23,272,328...23,289,266
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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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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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 chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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Chd7
chromodomain helicase DNA binding protein 7
ISO
ClinVar Annotator: match by term: Harelip
ClinVar
PMID:30311386
NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Harelip
ClinVar
PMID:25741868 PMID:30311386
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Ctnnd1
catenin delta 1
ISO
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:29805042
NCBI chr 3:72,001,904...72,053,047
Ensembl chr 3:72,002,152...72,053,049
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Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Harelip
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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Esrp2
epithelial splicing regulatory protein 2
ISO
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:29805042
NCBI chr19:38,113,412...38,120,578
Ensembl chr19:38,113,412...38,120,578
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Fgf1
fibroblast growth factor 1
ISO
DNA:SNP: :rs34010 (human)
RGD
PMID:24613087
RGD:11567264
NCBI chr18:32,273,830...32,359,831
Ensembl chr18:32,273,770...32,359,824
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Fgf10
fibroblast growth factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Fgf3
fibroblast growth factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
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Fgf7
fibroblast growth factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Fgf9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :rs13317 (human)
CTD
PMID:17963255 , PMID:24613087
RGD:11567264
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Gdf6
growth differentiation factor 6
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Harelip
ClinVar
PMID:25741868 PMID:30311386
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Irf6
interferon regulatory factor 6
ISO
van der Woude syndrome, OMIM:119300 ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:17041601 PMID:18836445 PMID:20436469 , PMID:12219090
RGD:1600214
NCBI chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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Kif7
kinesin family member 7
ISO
DNA:SNPs:introns:rs4932238,rs4932240(human)
RGD
PMID:26602496
RGD:11553833
NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
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Mafb
MAF bZIP transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20436469
NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
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Msx1
msh homeobox 1
ISO
DNA:mutations, SNPs:multiple (human)
RGD
PMID:12807959
RGD:5132609
NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility no_association
ISO
DNA:SNP:cds:1958G>A(human)
RGD
PMID:25129243 , PMID:18261183
RGD:12910961 , RGD:12910962
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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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 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Mthfs
methenyltetrahydrofolate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859337
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Nectin1
nectin cell adhesion molecule 1
ISO
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
RGD
PMID:10932188
RGD:1599795
NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
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Nog
noggin
susceptibility
ISO
DNA:SNP: :rs227731(human) DNA:SNP: : rs227727 (human)
RGD
PMID:25339627 , PMID:25704602
RGD:12801482 , RGD:11251786
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
G
Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Ntn1
netrin 1
ISO
ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate
ClinVar
NCBI chr10:54,761,925...54,982,072
Ensembl chr10:54,761,871...54,967,585
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Plekha5
pleckstrin homology domain containing A5
ISO
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:29805042
NCBI chr 4:174,605,462...174,774,692
Ensembl chr 4:174,605,476...174,774,693
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Plekha7
pleckstrin homology domain containing A7
ISO
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
PMID:29805042
NCBI chr 1:185,427,600...185,493,985
Ensembl chr 1:185,356,975...185,538,694
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Pomt1
protein-O-mannosyltransferase 1
ISO
associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon
RGD
PMID:18640039
RGD:11532685
NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
G
Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16405370
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Sdc2
syndecan 2
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 7:71,572,731...71,686,139
Ensembl chr 7:71,572,941...71,686,044
G
Slc19a1
solute carrier family 19 member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP: :80G>A(human)
CTD
PMID:21254359 , PMID:18797703
RGD:11565176
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Spry2
sprouty RTK signaling antagonist 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17576140
NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
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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 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16470748
NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
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Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Harelip
ClinVar
PMID:25741868
NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD ClinVar
PMID:16688749
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
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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 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
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Bhmt2
betaine-homocysteine S-methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 2:23,272,320...23,289,266
Ensembl chr 2:23,272,328...23,289,266
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Bnc2
basonuclin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19706529
NCBI chr 5:102,407,508...102,807,389
Ensembl chr 5:102,415,847...102,786,331
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Cask
calcium/calmodulin dependent serine protein kinase
ISO
CTD Direct Evidence: marker/mechanism DNA:insertion
CTD
PMID:9787075 , PMID:9787075
RGD:11576291
NCBI chr X:9,815,652...10,156,155
Ensembl chr X:9,815,652...10,156,155
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Cbfb
core-binding factor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17022082
NCBI chr19:37,127,508...37,171,075
Ensembl chr19:37,127,508...37,171,069
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10346820
NCBI chr 1:263,848,829...263,884,354
Ensembl chr 1:263,848,884...263,885,169
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Col11a2
collagen type XI alpha 2 chain
ISO
DNA:SNPs, haplotypes: :multiple DNA:SNPs, haplotypes: :rs3129208 (human)
RGD
PMID:20672350 , PMID:22112025
RGD:12436724 , RGD:12904711
NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
PMID:25741868 PMID:30311386
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Col2a1
collagen type II alpha 1 chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP,haplotype:intron:rs1793949(human)
CTD
PMID:15562585 , PMID:20672350
RGD:12436724
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Dlg1
discs large MAGUK scaffold protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11238884
NCBI chr11:72,164,566...72,378,895
Ensembl chr11:72,163,749...72,378,895
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Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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Egf
epidermal growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11399798
NCBI chr 2:68,820,616...68,895,537
G
Fgf10
fibroblast growth factor 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Fgf3
fibroblast growth factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
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Fgf7
fibroblast growth factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
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Fgf8
fibroblast growth factor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Fgf9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr15:38,341,657...38,386,945
Ensembl chr15:38,341,089...38,387,316
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255 PMID:29526646
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17963255
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Flna
filamin A
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
PMID:28492532 PMID:30311386
NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
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Flnb
filamin B
susceptibility
ISO
DNA:SNPs::
RGD
PMID:20634891
RGD:12791026
NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
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Fzd4
frizzled class receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17103440
NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
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Gata6
GATA binding protein 6
ISO
protein:decreased expression:secondary palatal shelf (mouse)
RGD
PMID:27391658
RGD:13208933
NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
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Gdf6
growth differentiation factor 6
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 5:23,056,345...23,072,666
Ensembl chr 5:23,056,347...23,074,599
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Gli3
GLI family zinc finger 3
ISO
RGD
PMID:18816854
RGD:12738224
NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:32963807
NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
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Golgb1
golgin B1
ISS
MouseDO
NCBI chr11:66,761,646...66,819,115
Ensembl chr11:66,761,584...66,819,079
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Grhl3
grainyhead-like transcription factor 3
ISO
ClinVar Annotator: match by term: nonsyndromic cleft palate
ClinVar
PMID:27018475
NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
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Inpp1
inositol polyphosphate-1-phosphatase
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
NCBI chr 9:53,544,602...53,574,303
Ensembl chr 9:53,546,018...53,574,690
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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 chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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Kif7
kinesin family member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21552264
NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
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Mnt
MAX network transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15028671
NCBI chr10:61,683,776...61,700,504
Ensembl chr10:61,685,241...61,700,491
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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 chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility
ISO
DNA:SNP:cds:1958 G>A (rs2236225)(human)
RGD
PMID:18661527
RGD:12914151
NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
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Mthfs
methenyltetrahydrofolate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859337
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Nectin1
nectin cell adhesion molecule 1
ISO
cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
RGD
PMID:10932188
RGD:1599795
NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
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Nedd4l
NEDD4 like E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27694961
NCBI chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
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Nek9
NIMA-related kinase 9
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
NCBI chr 6:109,121,524...109,162,433
Ensembl chr 6:109,124,330...109,162,267
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Nfia
nuclear factor I/A
ISO
ClinVar Annotator: match by term: Cleft palate
ClinVar
NCBI chr 5:116,421,895...116,750,381
Ensembl chr 5:116,420,690...116,751,416
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Nos3
nitric oxide synthase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Pax9
paired box 9
ISO
RGD
PMID:17097601
RGD:12801424
NCBI chr 6:77,607,705...77,624,453
Ensembl chr 6:77,608,624...77,621,719
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Pdgfra
platelet derived growth factor receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18264099
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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Pitx2
paired-like homeodomain 2
ISO
RGD
PMID:12975342
RGD:12910559
NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16405370
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Rarg
retinoic acid receptor, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21807577
NCBI chr 7:143,840,739...143,863,206
Ensembl chr 7:143,839,980...143,863,186
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Ror2
receptor tyrosine kinase-like orphan receptor 2
susceptibility
ISO
DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human)
RGD
PMID:22490406
RGD:11535950
NCBI chr17:11,953,552...12,134,386
Ensembl chr17:11,953,552...12,134,386
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Ryk
receptor-like tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10932185
NCBI chr 8:111,326,339...111,398,640
Ensembl chr 8:111,326,433...111,397,867
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Satb2
SATB homeobox 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 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
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Sdc2
syndecan 2
ISO
RGD
PMID:18716610
RGD:12798509
NCBI chr 7:71,572,731...71,686,139
Ensembl chr 7:71,572,941...71,686,044
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:17097601
RGD:12801424
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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Shox2
short stature homeobox 2
ISO
RGD
PMID:16141225
RGD:12859081
NCBI chr 2:164,118,175...164,126,783
Ensembl chr 2:164,118,191...164,126,783
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Sim2
SIM bHLH transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12203729
NCBI chr11:34,315,739...34,355,183
Ensembl chr11:34,316,295...34,354,027
G
Slc19a1
solute carrier family 19 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
G
Spry2
sprouty RTK signaling antagonist 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17576140
NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
G
Sumo1
small ubiquitin-like modifier 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16990542
NCBI chr 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
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Tbx22
T-box transcription factor 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:78,731,738...78,782,542
Ensembl chr X:78,769,419...78,782,542
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Tenm4
teneurin transmembrane protein 4
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
NCBI chr 1:161,183,858...161,885,094
Ensembl chr 1:161,401,527...161,880,923
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25450421
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
G
Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25450421
NCBI chr13:105,039,639...105,142,010
Ensembl chr13:105,039,853...105,141,030
G
Tgfb3
transforming growth factor, beta 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7493022 PMID:26971374 , PMID:17097601
RGD:12801424
NCBI chr 6:109,913,757...109,936,217
Ensembl chr 6:109,913,757...109,935,533
G
Tgfbr2
transforming growth factor, beta receptor 2
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
PMID:30311386
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
G
Tmco1
transmembrane and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
PMID:25741868
NCBI chr13:85,465,015...85,559,113
Ensembl chr13:85,465,792...85,559,087
G
Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11462173
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
G
Ttn
titin
ISO
ClinVar Annotator: match by term: Uranostaphyloschisis
ClinVar
PMID:25741868 PMID:30311386
NCBI chr 3:63,565,160...63,837,815
G
Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21254359
NCBI chr 9:121,918,875...121,931,564
Ensembl chr 9:121,918,947...121,931,564
G
Tbx22
T-box transcription factor 22
ISO
ClinVar Annotator: match by null
ClinVar
PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330
NCBI chr X:78,731,738...78,782,542
Ensembl chr X:78,769,419...78,782,542
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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 PMID:30291340
NCBI chr 3:107,560,172...107,762,732
Ensembl chr 3:107,559,997...107,760,589
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 1:163,443,972...163,457,426
Ensembl chr 1:163,445,527...163,457,424
G
Kdm1a
lysine 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 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
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Bmp4
bone morphogenetic protein 4
ISS
OMIM:119550
MouseDO
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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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 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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Plod2
procollagen lysine, 2-oxoglutarate 5-dioxygenase 2
ISO
ClinVar Annotator: match by term: Cleft soft palate
ClinVar
PMID:25741868
NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
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Tgfbr2
transforming growth factor, beta receptor 2
ISS
OMIM:119570
MouseDO
NCBI chr 8:124,310,288...124,399,345
Ensembl chr 8:124,312,754...124,399,494
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Arid1a
AT-rich interaction domain 1A
ISO ISS
ClinVar Annotator: match by term: Coffin-Siris syndrome OMIM:135900
ClinVar MouseDO
PMID:25741868
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar Annotator: match by term: Coffin-Siris syndrome DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 , PMID:24674232
RGD:11526783
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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Kdm8
lysine demethylase 8
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar
PMID:25741868
NCBI chr 1:196,838,460...196,854,192
Ensembl chr 1:196,839,321...196,854,180
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
ClinVar
PMID:18414213
NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar
PMID:18414213 PMID:24728327 PMID:25741868 PMID:26353884 PMID:27701467 PMID:28492532
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
PMID:22426308 PMID:25741868
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
ClinVar OMIM
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 PMID:22426309 PMID:23815551 PMID:23906836 PMID:23929686 PMID:25326635 PMID:25473036 PMID:25674384 PMID:25741868 PMID:25741869 PMID:26350204 PMID:27474218 PMID:27570168 PMID:28323383 PMID:28454995 PMID:28492532 PMID:28708303 PMID:31132234 PMID:32860008
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
PMID:25741868 PMID:29429572
NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868
NCBI chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar
PMID:25741868
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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Sox4
SRY-box transcription factor 4
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 10
OMIM ClinVar
PMID:25741868 PMID:30661772
NCBI chr17:37,615,022...37,619,728
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Smarcd1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 11
OMIM ClinVar
PMID:30879640
NCBI chr 7:141,355,623...141,366,725
Ensembl chr 7:141,355,994...141,366,732
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Actn4
actinin alpha 4
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14
ClinVar
PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 PMID:25741868 PMID:26248470 PMID:26346198 PMID:26467025 PMID:27535533
NCBI chr 1:87,078,012...87,147,347
Ensembl chr 1:87,078,020...87,147,333
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar Annotator: match by OMIM:614607
OMIM ClinVar
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 PMID:23906836 PMID:23929686 PMID:25168959 PMID:25169878 PMID:25326635 PMID:25741868 PMID:28262751 PMID:30123105
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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Hr
HR, lysine demethylase and nuclear receptor corepressor
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14
ClinVar
PMID:21919222 PMID:23548463 PMID:25741868
NCBI chr15:52,241,801...52,261,276
Ensembl chr15:52,241,801...52,261,276
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar Annotator: match by OMIM:614608
OMIM ClinVar
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670
NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 16 ClinVar Annotator: match by OMIM:614609
OMIM ClinVar
PMID:10601012 PMID:22426308 PMID:23637025 PMID:25326635 PMID:25741868 PMID:28492532
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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Smarce1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
ISO
ClinVar Annotator: match by term: Coffin-siris syndrome 5 ClinVar Annotator: match by term: Coffin-Siris syndrome 5
ClinVar OMIM
PMID:22426308 PMID:23906836 PMID:25741868
NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 6
ClinVar OMIM
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 PMID:28884947
NCBI chr 7:137,680,564...137,798,329
Ensembl chr 7:137,680,530...137,795,655
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Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 7
ClinVar OMIM
PMID:25741868 PMID:29429572
NCBI chr 1:221,253,764...221,269,043
Ensembl chr 1:221,253,747...221,269,042
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Smarcc2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
ISO
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 8
OMIM ClinVar
PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808
NCBI chr 7:2,875,898...2,905,463
Ensembl chr 7:2,875,909...2,904,453
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Sox11
SRY-box transcription factor 11
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 27
ClinVar OMIM
PMID:24886874 PMID:25741868 PMID:32860008
NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
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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 chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371
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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 chr18:14,814,149...15,780,290
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Igbp1
immunoglobulin binding protein 1
ISO
ClinVar Annotator: match by OMIM:300472
OMIM ClinVar
PMID:14556245
NCBI chr X:70,322,764...70,345,005
Ensembl chr X:70,322,755...70,345,005
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA ClinVar Annotator: match by OMIM:114300
OMIM ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:30285720 PMID:31680123
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
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Tp63
tumor protein p63
susceptibility
ISO
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 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 OMIM
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 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:29130604 PMID:29620206 , PMID:10535733 , PMID:26470833 , PMID:12161593 , PMID:11903230
RGD:1600403 , RGD:11532814 , RGD:11568642 , RGD:11568640
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Tp63
tumor protein p63
ISO
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:12161593 PMID:12445213 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:29130604 PMID:29620206 , PMID:25983622 , PMID:11462173 , PMID:19903181 , PMID:15324320 , PMID:23775923
RGD:11568639 , RGD:11568638 , RGD:11070288 , RGD:11568075 , RGD:11568074
NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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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 chr 7:44,751,865...44,771,458
Ensembl chr 7:44,751,873...44,771,458
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Ano5
anoctamin 5
ISO
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar Annotator: match by term: Osteogenesis imperfecta Levin type DNA:missense mutations:exon:p.C356R, p.C356G (human) DNA:missense mutation:exon:p.T513I (c.1538C>T) (human) ClinVar Annotator: match by OMIM:166260
OMIM ClinVar
PMID:5816667 PMID:9673985 PMID:15124103 PMID:17008331 PMID:17132147 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23047743 PMID:23530687 PMID:23606453 PMID:23607914 PMID:23663589 PMID:23670307 PMID:23757202 PMID:24022920 PMID:24033266 PMID:24232312 PMID:24239059 PMID:24803842 PMID:24843231 PMID:25046369 PMID:25135358 PMID:25326637 PMID:25741868 PMID:25864073 PMID:25891276 PMID:26404900 PMID:26467025 PMID:26810512 PMID:26838040 PMID:26886200 PMID:26911675 PMID:27708273 PMID:27854218 PMID:27862037 PMID:27884173 PMID:27911336 PMID:28492532 PMID:28888072 PMID:29124309 PMID:29382405 PMID:30311386 PMID:30564623 PMID:30919934 PMID:31395899 , PMID:15124103 , PMID:23047743
RGD:11570566 , RGD:11570556
NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
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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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: Cleft palate, isolated
ClinVar
PMID:22473090 PMID:24728327 PMID:27153395 PMID:28492532
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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Satb2
SATB homeobox 2
ISS 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 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
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Otx2
orthodenticle homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12183386
NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
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Pcsk5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23770608
NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16580747
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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Twsg1
twisted gastrulation BMP signaling modulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15013800
NCBI chr 9:113,699,151...113,732,601
Ensembl chr 9:113,699,170...113,732,622
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Col2a1
collagen type II alpha 1 chain
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:7849719 PMID:7874117 PMID:7981752 PMID:9066888 PMID:9468540 PMID:10406661 PMID:11297324 PMID:12995812 PMID:23188137 PMID:25741868 PMID:28492532
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Chst3
carbohydrate sulfotransferase 3
ISO
ClinVar Annotator: match by term: Larsen syndrome
ClinVar
PMID:28492532
NCBI chr20:29,731,828...29,768,656
Ensembl chr20:29,731,816...29,738,506
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Flnb
filamin B
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 chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
OMIM ClinVar
PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 PMID:26648449 PMID:28492532 PMID:30827058
NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
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Bmp5
bone morphogenetic protein 5
ISS
OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805
MouseDO
NCBI chr 8:82,669,466...82,950,273
Ensembl chr 8:82,878,941...82,950,273
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Cdc45
cell division cycle 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
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Cdc6
cell division cycle 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD ClinVar
PMID:21358632
NCBI chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD ClinVar
PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 PMID:25741868
NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
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Gmnn
geminin, DNA replication inhibitor
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11477602 PMID:14973488 PMID:26637980
NCBI chr17:42,302,523...42,310,783
Ensembl chr17:42,302,540...42,310,783
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Orc1
origin recognition complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD ClinVar
PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 PMID:21358633 PMID:22333897 PMID:22855792 PMID:23023959 PMID:23516378 PMID:24033266 PMID:25689043
NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
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Orc4
origin recognition complex, subunit 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21358631 PMID:21358632
NCBI chr 3:33,034,913...33,075,833
Ensembl chr 3:33,037,034...33,075,685
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Orc6
origin recognition complex, subunit 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD ClinVar
PMID:21358632 PMID:25741868
NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome
ClinVar
PMID:25741868
NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
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Orc1
origin recognition complex, subunit 1
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 1
ClinVar OMIM
PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 PMID:21358632 PMID:21358633 PMID:22333897 PMID:22689986 PMID:22855792 PMID:23023959 PMID:23516378 PMID:24033266 PMID:25689043 PMID:25741868 PMID:28492532
NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445
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Orc4
origin recognition complex, subunit 4
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 2
ClinVar OMIM
PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:33,034,913...33,075,833
Ensembl chr 3:33,037,034...33,075,685
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Orc6
origin recognition complex, subunit 6
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 3
ClinVar OMIM
PMID:7710253 PMID:18414213 PMID:21358632 PMID:22333897 PMID:25741868
NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805
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Vps35
VPS35 retromer complex component
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 3
ClinVar
PMID:25741868
NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 4
ClinVar OMIM
PMID:11477602 PMID:11992493 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
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Cdc6
cell division cycle 6
ISO
ClinVar Annotator: match by term: Meier-Gorlin syndrome 5
ClinVar OMIM
PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532
NCBI chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402
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Gmnn
geminin, DNA replication inhibitor
ISO
ClinVar Annotator: match by term: Meier-gorlin syndrome 6
ClinVar OMIM
PMID:11477602 PMID:14973488 PMID:26637980
NCBI chr17:42,302,523...42,310,783
Ensembl chr17:42,302,540...42,310,783
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: Meier-gorlin syndrome 7
ClinVar OMIM
PMID:25741868 PMID:27374770
NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453
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Mcm5
minichromosome maintenance complex component 5
ISO
ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 8
ClinVar OMIM
PMID:28198391
NCBI chr19:14,523,482...14,561,281
Ensembl chr19:14,523,554...14,561,278
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Sobp
sine oculis binding protein homolog
ISO
ClinVar Annotator: match by term: Mental retardation, anterior maxillary protrusion, and strabismus ClinVar Annotator: match by OMIM:613671
OMIM ClinVar
PMID:17618476 PMID:21035105 PMID:25741868
NCBI chr20:47,731,713...47,910,466
Ensembl chr20:47,750,762...47,910,375
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
ISO
ClinVar Annotator: match by term: Mandibular micrognathia
ClinVar
PMID:25741868 PMID:26922654 PMID:27241786 PMID:28492532 PMID:30311386
NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Mandibular micrognathia
ClinVar
PMID:30311386
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Mandibular micrognathia
ClinVar
PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27929079 PMID:28492532 PMID:30311386 PMID:32581362
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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Mthfr
methylenetetrahydrofolate reductase
ISO
ClinVar Annotator: match by term: Mandibular micrognathia
ClinVar
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10732818 PMID:10869114 PMID:10930360 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12796225 PMID:12915598 PMID:14647408 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:22143415 PMID:22838948 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24241962 PMID:24637499 PMID:25007187 PMID:25065700 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25778468 PMID:26014925 PMID:27399166 PMID:28696419 PMID:29683944 PMID:30311386
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Nog
noggin
ISO
DNA:SNP:rs1348322(human)
RGD
PMID:20645637
RGD:12801465
NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
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Opa3
outer mitochondrial membrane lipid metabolism regulator OPA3
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:27528516 PMID:30311386
NCBI chr 1:80,141,630...80,160,145
Ensembl chr 1:80,141,630...80,160,145
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Pgap2
post-GPI attachment to proteins 2
ISO
ClinVar Annotator: match by term: Mandibular micrognathia
ClinVar
PMID:25741868
NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741
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Pgm1
phosphoglucomutase 1
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr 5:118,743,632...118,803,055
Ensembl chr 5:118,743,632...118,803,055
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Pitx1
paired-like homeodomain 1
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr17:8,873,184...8,884,428
Ensembl chr17:8,878,270...8,884,423
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Sf3b4
splicing factor 3b, subunit 4
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:25741868
NCBI chr 2:198,312,428...198,317,180
Ensembl chr 2:198,312,428...198,317,180
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Micrognathia
ClinVar
PMID:9671762 PMID:9751722 PMID:11505222 PMID:23541568 PMID:24728327 PMID:28492532 PMID:30311386 PMID:31034483
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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Hoxa1
homeobox A1
ISO
ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
ClinVar
NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066
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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 4:82,130,441...82,134,846
Ensembl chr 4:82,131,329...82,133,605
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Atp6v0a4
ATPase H+ transporting 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 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
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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 chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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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 chr 7:70,807,427...70,815,271
Ensembl chr 7:70,807,867...70,815,270
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Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
ISO
ClinVar Annotator: match by OMIM:600251
OMIM ClinVar
PMID:21703590
NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
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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:28492532
NCBI chr X:25,458,782...25,839,941
Ensembl chr X:25,458,771...25,628,272
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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 3:151,032,925...151,075,856
Ensembl chr 3:151,032,952...151,075,856
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Bmp4
bone morphogenetic protein 4
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Cdh1
cadherin 1
ISO
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 chr19:38,768,467...38,838,395
Ensembl chr19:38,768,467...38,838,395
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Cep70
centrosomal protein 70
ISO
ClinVar Annotator: match by term: Median cleft lip and palate
ClinVar
PMID:19254375 PMID:25741868 PMID:31680349
NCBI chr 8:107,495,326...107,548,274
Ensembl chr 8:107,495,366...107,548,269
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Fras1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Median cleft lip and palate
ClinVar
PMID:30311386
NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
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Frem2
FRAS1 related extracellular matrix 2
ISO
ClinVar Annotator: match by term: Median cleft lip and palate
ClinVar
PMID:30311386
NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
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Fst
follistatin
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:31215115
NCBI chr 2:46,537,589...46,544,813
Ensembl chr 2:46,538,700...46,544,457
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Gdf11
growth differentiation factor 11
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:31215115
NCBI chr 7:3,306,863...3,315,856
Ensembl chr 7:3,306,863...3,315,856
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Gstm1
glutathione S-transferase mu 1
no_association
ISO
DNA:deletion: : (human)
RGD
PMID:11471167
RGD:12792251
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion:cds: (human)
RGD
PMID:11505167
RGD:12792210
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Loxhd1
lipoxygenase homology domains 1
susceptibility
ISO
DNA:SNP:exon:rs1450425 (human)
RGD
PMID:27242896
RGD:13204730
NCBI chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
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Lrp6
LDL receptor related protein 6
ISO
ClinVar Annotator: match by term: Orofacial cleft
ClinVar
PMID:22813217 PMID:23806086 PMID:26963285
NCBI chr 4:168,194,054...168,323,962
Ensembl chr 4:168,194,927...168,323,751
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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 chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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Myh9
myosin, heavy chain 9
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 chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human)
RGD
PMID:27229527
RGD:13831309
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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Shh
sonic hedgehog signaling molecule
ISO
ClinVar Annotator: match by term: Median cleft lip and palate
ClinVar
PMID:30311386
NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
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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 chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
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Nectin2
nectin cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21637507
NCBI chr 1:80,631,449...80,666,617
Ensembl chr 1:80,631,450...80,666,585
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Phyh
phytanoyl-CoA 2-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 chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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Pvr
PVR cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21637507
NCBI chr 1:80,820,306...80,835,712
Ensembl chr 1:80,820,050...80,835,701
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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 chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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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 9:66,453,428...66,483,614
Ensembl chr 9:66,453,438...66,483,614
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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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Dlx4
distal-less homeobox 4
ISO
ClinVar Annotator: match by term: Orofacial cleft 15
ClinVar OMIM
PMID:25954033
NCBI chr10:82,958,525...82,963,919
Ensembl chr10:82,958,525...82,963,919
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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 chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
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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 chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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Nectin1
nectin cell adhesion molecule 1
ISO
ClinVar Annotator: match by null
ClinVar
PMID:10932188 PMID:11559849
NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
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Tp63
tumor protein p63
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 chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant ClinVar Annotator: match by term: PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE ClinVar Annotator: match by term: Stickler syndrome, type 3 ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome DNA:splice-site mutation:intron ClinVar Annotator: match by OMIM:277610
OMIM ClinVar
PMID:7833911 PMID:9506662 PMID:9805126 PMID:14234962 PMID:15372529 PMID:15922184 PMID:22938506 PMID:23967202 PMID:24033266 PMID:25240749 PMID:25633957 PMID:25741868 PMID:26467025 PMID:26691295 , PMID:7859284
RGD:12904710
NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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Col2a1
collagen type II alpha 1 chain
ISO
ClinVar Annotator: match by term: Stickler syndrome, type 3
ClinVar
PMID:25741868
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Nedd4l
NEDD4 like E3 ubiquitin protein ligase
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 chr18:60,392,376...60,719,720
Ensembl chr18:60,392,376...60,719,720
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B3glct
beta 3-glucosyltransferase
ISO
ClinVar Annotator: match by term: Peters plus syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:261540
OMIM ClinVar 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 chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
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Fgf8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: Peters plus syndrome
ClinVar
PMID:25741868 PMID:29584859
NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
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Irf6
interferon regulatory factor 6
ISO
ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar Annotator: match by OMIM:119500
OMIM ClinVar
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 chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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Ripk4
receptor-interacting serine-threonine kinase 4
ISO ISS
ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM:119500 | OMIM:263650
ClinVar MouseDO
NCBI chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
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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 chr11:38,251,991...38,274,234
Ensembl chr11:38,251,955...38,274,217
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Dhodh
dihydroorotate dehydrogenase (quinone)
ISO
ClinVar Annotator: match by term: Miller syndrome ClinVar Annotator: match by OMIM:263750
OMIM ClinVar
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
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Col2a1
collagen type II alpha 1 chain
susceptibility
ISO
DNA:SNP: : rs1793953(human)
RGD
PMID:24386886
RGD:11667107
NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Deaf1
DEAF1 transcription factor
ISO
ClinVar Annotator: match by term: Prognathism
ClinVar
PMID:30311386
NCBI chr 1:214,283,787...214,317,466
Ensembl chr 1:214,283,790...214,317,466
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Dpyd
dihydropyrimidine dehydrogenase
ISO
ClinVar Annotator: match by term: Prognathism
ClinVar
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:10071185 PMID:10657402 PMID:10803677 PMID:11156223 PMID:11350878 PMID:11555601 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12209976 PMID:12360106 PMID:12912951 PMID:15017333 PMID:15858133 PMID:16151913 PMID:16361556 PMID:17000685 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17700593 PMID:18299612 PMID:18443386 PMID:18600527 PMID:19104657 PMID:19473056 PMID:19795123 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20803296 PMID:20809970 PMID:20819423 PMID:21410976 PMID:21498394 PMID:21723269 PMID:21919607 PMID:22339448 PMID:22992668 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23585145 PMID:23603345 PMID:23736036 PMID:23930673 PMID:24167597 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:25381393 PMID:25410891 PMID:25590979 PMID:25677447 PMID:25741868 PMID:26099996 PMID:26216193 PMID:26265035 PMID:26467025 PMID:26603945 PMID:26794347 PMID:26804652 PMID:26846104 PMID:26967565 PMID:27454530 PMID:27738344 PMID:27864592 PMID:28295243 PMID:28481884 PMID:28929491 PMID:29065426 PMID:29134491 PMID:29152729 PMID:30348537
NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
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Erlec1
endoplasmic reticulum lectin 1
ISO
ClinVar Annotator: match by term: Prognathism
ClinVar
NCBI chr14:115,314,890...115,352,871
Ensembl chr14:115,314,890...115,352,562
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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 chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
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Tp63
tumor protein p63
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 chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Retrognathia
ClinVar
PMID:25741868
NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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Clcn1
chloride voltage-gated channel 1
ISO
ClinVar Annotator: match by term: Maxillary retrusion
ClinVar
PMID:25741868
NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
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Dyrk1a
dual specificity tyrosine phosphorylation regulated kinase 1A
ISO
ClinVar Annotator: match by term: Mandibular retrusion
ClinVar
PMID:25741868 PMID:26922654 PMID:27241786 PMID:28492532 PMID:30311386
NCBI chr11:34,858,339...34,958,733
Ensembl chr11:34,865,532...34,956,536
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Mandibular retrusion
ClinVar
PMID:25741868
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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Gja1
gap junction protein, alpha 1
ISO
ClinVar Annotator: match by term: Mandibular retrusion
ClinVar
PMID:30311386
NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Maxillary retrusion
ClinVar
PMID:25741868
NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: Retrognathia
ClinVar
PMID:25741868 PMID:26938784
NCBI chr13:100,431,390...100,450,209
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Mecp2
methyl CpG binding protein 2
ISO
ClinVar Annotator: match by term: Mandibular retrusion
ClinVar
PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 PMID:11885030 PMID:12325019 PMID:12843318 PMID:14598336 PMID:20301670 PMID:21831886 PMID:24328834 PMID:25473036 PMID:25741868 PMID:26350204 PMID:26418480 PMID:27465203 PMID:27929079 PMID:28492532 PMID:30311386 PMID:32581362
NCBI chr X:156,650,389...156,713,813
Ensembl chr X:156,655,960...156,705,233
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Mthfr
methylenetetrahydrofolate reductase
ISO
ClinVar Annotator: match by term: Mandibular retrusion
ClinVar
PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 PMID:8554053 PMID:8554066 PMID:8616944 PMID:8771990 PMID:8826441 PMID:8837319 PMID:8892013 PMID:8903338 PMID:8981967 PMID:8994411 PMID:9133512 PMID:9192280 PMID:9244205 PMID:9341863 PMID:9372726 PMID:9453374 PMID:9545406 PMID:9737770 PMID:9789068 PMID:9798595 PMID:9843036 PMID:9863598 PMID:10196703 PMID:10323741 PMID:10440833 PMID:10732818 PMID:10869114 PMID:10930360 PMID:11121176 PMID:11140843 PMID:11418485 PMID:11781870 PMID:11807890 PMID:11863127 PMID:11888585 PMID:11929966 PMID:12080391 PMID:12095808 PMID:12154064 PMID:12165282 PMID:12196644 PMID:12221667 PMID:12356947 PMID:12383688 PMID:12384649 PMID:12387655 PMID:12400059 PMID:12406076 PMID:12428084 PMID:12453860 PMID:12529699 PMID:12560871 PMID:12796225 PMID:12915598 PMID:14647408 PMID:15051775 PMID:15054400 PMID:15103709 PMID:15154859 PMID:15173232 PMID:15534175 PMID:15565101 PMID:15704130 PMID:15729744 PMID:15781665 PMID:15806605 PMID:15808177 PMID:16013960 PMID:16019535 PMID:16172608 PMID:16365871 PMID:16402130 PMID:16432849 PMID:16462575 PMID:16463153 PMID:16470725 PMID:16501586 PMID:16712703 PMID:16800002 PMID:16870553 PMID:17180579 PMID:17284634 PMID:17323057 PMID:17350979 PMID:17436239 PMID:17488658 PMID:17512587 PMID:17543893 PMID:17726486 PMID:17898028 PMID:18458567 PMID:18583979 PMID:18704422 PMID:18987660 PMID:19159907 PMID:19307503 PMID:19648163 PMID:20154341 PMID:20638924 PMID:21605004 PMID:21644011 PMID:21747412 PMID:22143415 PMID:22838948 PMID:22992668 PMID:23089671 PMID:23488607 PMID:23648444 PMID:23775025 PMID:24241962 PMID:24637499 PMID:25007187 PMID:25065700 PMID:25110820 PMID:25227144 PMID:25303299 PMID:25778468 PMID:26014925 PMID:27399166 PMID:28696419 PMID:29683944 PMID:30311386
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Pgap2
post-GPI attachment to proteins 2
ISO
ClinVar Annotator: match by term: Mandibular retrusion
ClinVar
PMID:25741868
NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741
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Prrx1
paired related homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23444262
NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Retrognathia
ClinVar
PMID:30311386
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Eif4a3
eukaryotic translation initiation factor 4A3
ISO
ClinVar Annotator: match by OMIM:268305
OMIM ClinVar
PMID:24360810
NCBI chr10:108,415,201...108,425,195
Ensembl chr10:108,415,202...108,425,206
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Scaphocephaly, maxillary retrusion, and mental retardation
OMIM ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 PMID:8651276 PMID:8957519 PMID:9169049 PMID:9462761 PMID:9719378 PMID:10851026 PMID:11121055 PMID:11390973 PMID:12124745 PMID:14499350 PMID:15975938 PMID:16061565 PMID:16158432 PMID:16440883 PMID:16838304 PMID:17525745 PMID:18552176 PMID:20301628 PMID:21367659 PMID:22238366 PMID:22664175 PMID:23002168 PMID:23495007 PMID:23546041 PMID:24127277 PMID:24489893 PMID:25157968 PMID:25271085 PMID:25741868 PMID:25867380 PMID:26380986 PMID:26619011 PMID:28492532 PMID:31145570
NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
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Fbxw4
F-box and WD repeat domain containing 4
ISO
ClinVar Annotator: match by term: Split hand-foot malformation 3
OMIM ClinVar
PMID:28492532
NCBI chr 1:265,318,526...265,420,503
Ensembl chr 1:265,318,526...265,420,503
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Snx3
sorting nexin 3
ISO
OMIM
NCBI chr20:47,225,382...47,263,390
Ensembl chr20:47,225,619...47,263,390
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Rbm10
RNA binding motif protein 10
ISO
ClinVar Annotator: match by term: TARP syndrome ClinVar Annotator: match by OMIM:311900
OMIM ClinVar
PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868
NCBI chr X:1,754,869...1,786,973
Ensembl chr X:1,754,861...1,786,978
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Yap1
Yes1 associated transcriptional regulator
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 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
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Grhl3
grainyhead-like transcription factor 3
ISS ISO
OMIM:119300 | OMIM:606713 ClinVar Annotator: match by term: Van der Woude syndrome
MouseDO ClinVar
PMID:25741868
NCBI chr 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
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Irf6
interferon regulatory factor 6
ISO
ClinVar Annotator: match by term: Van der Woude syndrome ClinVar Annotator: match by OMIM:119300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar 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 chr13:111,870,121...111,889,328
Ensembl chr13:111,870,121...111,889,328
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LOC100125367
hypothetical protein LOC100125367
ISO
ClinVar Annotator: match by term: Van der Woude syndrome
ClinVar
PMID:14618417
NCBI chr13:111,890,825...111,893,308
Ensembl chr13:111,890,894...111,893,306
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Cfap57
cilia and flagella associated protein 57
ISO
ClinVar Annotator: match by null
ClinVar
PMID:21574244
NCBI chr 5:137,383,065...137,458,594 NCBI chr 5:137,652,118...137,670,067
Ensembl chr 5:137,383,048...137,458,184 Ensembl chr 5:137,383,048...137,458,184
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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 5:153,893,039...153,925,045
Ensembl chr 5:153,893,039...153,924,896
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Acadvl
acyl-CoA dehydrogenase, very long chain
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,619,321...56,624,468
Ensembl chr10:56,619,303...56,624,526
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Acap1
ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,492,300...56,506,446
Ensembl chr10:56,492,300...56,506,446
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Acvr2a
activin A receptor type 2A
ISS
OMIM:261800
MouseDO
NCBI chr 3:32,947,901...33,034,598
Ensembl chr 3:32,947,378...33,034,282
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Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Pierre Robin-like syndrome
ClinVar
NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:30311386
NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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Chrnb1
cholinergic receptor nicotinic beta 1 subunit
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
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Cldn7
claudin 7
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,576,326...56,578,632
Ensembl chr10:56,576,428...56,578,626
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Col18a1
collagen type XVIII alpha 1 chain
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:30311386
NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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Ctdnep1
CTD nuclear envelope phosphatase 1
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,590,822...56,600,235
Ensembl chr10:56,591,292...56,600,232
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Dld
dihydrolipoamide dehydrogenase
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:30311386
NCBI chr 6:50,597,677...50,618,694
Ensembl chr 6:50,597,677...50,618,694
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Dvl2
dishevelled segment polarity protein 2
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,609,810...56,619,269
Ensembl chr10:56,610,051...56,619,269
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Ebf3
EBF transcription factor 3
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:25741868 PMID:28017370 PMID:28017372
NCBI chr 1:209,523,153...209,641,143
Ensembl chr 1:209,523,157...209,641,123
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Eif5a
eukaryotic translation initiation factor 5A
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,527,075...56,531,615
Ensembl chr10:56,527,085...56,531,483
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Elp5
elongator acetyltransferase complex subunit 5
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,578,980...56,590,706
Ensembl chr10:56,578,985...56,591,364
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Fgf11
fibroblast growth factor 11
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,403,320...56,410,816
Ensembl chr10:56,403,256...56,409,017
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Gabarap
GABA type A receptor-associated protein
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,601,288...56,604,223
Ensembl chr10:56,601,288...56,604,221
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Gps2
G protein pathway suppressor 2
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,524,327...56,527,447
Ensembl chr10:56,524,468...56,526,987
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Kctd11
potassium channel tetramerization domain containing 11
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,489,552...56,491,715
Ensembl chr10:56,489,552...56,491,715
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Mapk1
mitogen activated protein kinase 1
ISS
OMIM:261800
MouseDO
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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Neurl4
neuralized E3 ubiquitin protein ligase 4
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,511,861...56,524,233
Ensembl chr10:56,512,615...56,524,229
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Nlgn2
neuroligin 2
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,431,586...56,444,847
Ensembl chr10:56,431,573...56,444,847
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Phf23
PHD finger protein 23
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,605,078...56,609,236
Ensembl chr10:56,605,140...56,609,233
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Plscr3
phospholipid scramblase 3
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,452,632...56,458,390
Ensembl chr10:56,453,877...56,458,390
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Pnpla6
patatin-like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:24355708 PMID:30311386
NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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Polr2a
RNA polymerase II subunit A
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,339,277...56,364,888
Ensembl chr10:56,339,284...56,365,084
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Slc19a1
solute carrier family 19 member 1
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:30311386
NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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Slc1a2
solute carrier family 1 member 2
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:30311386
NCBI chr 3:92,518,679...92,665,731
Ensembl chr 3:92,640,752...92,665,644
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Slc2a4
solute carrier family 2 member 4
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,552,921...56,558,562
Ensembl chr10:56,552,983...56,558,487
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Slc35g3
solute carrier family 35, member G3
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,366,578...56,368,360
Ensembl chr10:56,366,609...56,368,360
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Snrpb
small nuclear ribonucleoprotein polypeptides B and B1
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr 3:122,696,125...122,703,734
Ensembl chr 3:122,695,939...122,703,734
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Sox11
SRY-box transcription factor 11
ISS
OMIM:261800
MouseDO
NCBI chr 6:46,629,967...46,631,988
Ensembl chr 6:46,629,974...46,631,983
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Sox9
SRY-box transcription factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19234473
NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
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Spem1
spermatid maturation 1
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,428,447...56,429,748
Ensembl chr10:56,428,344...56,429,833
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Spem2
SPEM family member 2
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,424,164...56,426,012
Ensembl chr10:56,424,164...56,426,012
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Tmem102
transmembrane protein 102
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,410,898...56,413,154
Ensembl chr10:56,410,918...56,412,544
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Tmem256
transmembrane protein 256
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,446,022...56,447,138
Ensembl chr10:56,445,647...56,447,138
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Tmem95
transmembrane protein 95
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,486,778...56,488,723
Ensembl chr10:56,487,417...56,488,723
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Tnk1
tyrosine kinase, non-receptor, 1
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,458,650...56,475,183
Ensembl chr10:56,459,108...56,465,393
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Tnnt3
troponin T3, fast skeletal type
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:25741868
NCBI chr 1:215,666,628...215,683,628
Ensembl chr 1:215,666,628...215,683,628
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Ybx2
Y box binding protein 2
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,546,689...56,552,339
Ensembl chr10:56,546,710...56,551,863
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Zbtb4
zinc finger and BTB domain containing 4
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
NCBI chr10:56,367,586...56,388,296
Ensembl chr10:56,381,813...56,385,960
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Zic2
Zic family member 2
ISO
ClinVar Annotator: match by term: Robin sequence
ClinVar
PMID:30311386
NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
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Tbx22
T-box transcription factor 22
ISO
ClinVar Annotator: match by term: Cleft palate X-linked ClinVar Annotator: match by OMIM:303400
OMIM ClinVar
PMID:14729838 PMID:16247549 PMID:17868388 PMID:25741868 PMID:28492532
NCBI chr X:78,731,738...78,782,542
Ensembl chr X:78,769,419...78,782,542
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Fig4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar Annotator: match by term: Yunis Varon syndrome ClinVar Annotator: match by OMIM:216340
OMIM ClinVar
PMID:2319578 PMID:7496176 PMID:20932945 PMID:21705420 PMID:23489662 PMID:23623387 PMID:25741868 PMID:28492532
NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738
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Vac14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Yunis Varon syndrome
ClinVar
NCBI chr19:40,927,007...41,029,206
Ensembl chr19:40,927,007...41,029,206
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all