Jaw Diseases - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	Jaw Diseases	go back to main search page
Accession:	DOID:9003876	browse the term
Definition:	Diseases involving the JAW.
Synonyms:	exact_synonym:	Jaw Disease
	primary_id:	MESH:D007571
	xref:	EFO:0009468

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Rat (385) Mouse (382) Human (16237) Chinchilla (370) Bonobo (379) Dog (379) Squirrel (365) Pig (374) Green Monkey (375) Naked Mole-rat (369) All
Genes (375)

agnathia-otocephaly complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box H1

OMIM:202650

NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144

G

paired related homeobox 1

ClinVar Annotator: match by term: Agnathia-otocephaly complex | ClinVar Annotator: match by term: PRRX1-related condition

PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More...

NCBI chr25:58,347,686...58,423,454
Ensembl chr25:58,347,704...58,421,980

G

trafficking protein particle complex subunit 10

OMIM:202650

NCBI chr 2:87,760,813...87,856,630
Ensembl chr 2:87,761,479...87,857,418

Ankyloblepharon Filiforme Adnatum

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum

NCBI chr15:83,861,489...84,126,675

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More...

NCBI chr15:83,861,489...84,126,675

Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 3 catalytic subunit alpha

ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition

PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760

NCBI chr 7:49,149,044...49,478,796
Ensembl chr 7:49,148,933...49,321,013

Au-Kline Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting alpha

ClinVar Annotator: match by term: Au-Kline syndrome

PMID:25741868 PMID:28492532

NCBI chr X:66,843,519...66,985,655
Ensembl chr X:66,843,558...66,985,709

G

CREB binding protein

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943

G

heterogeneous nuclear ribonucleoprotein K

ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar Annotator: match by term: Okamoto syndrome

PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More...

NCBI chr12:94,768,403...94,789,957
Ensembl chr12:94,768,480...94,789,743

G

mediator complex subunit 13L

ClinVar Annotator: match by term: Kabuki-like syndrome

NCBI chr11:111,245,201...111,563,485
Ensembl chr11:111,243,753...111,563,663

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Okamoto syndrome

PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More...

NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428

autosomal dominant craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANKH inorganic pyrophosphate transport regulator

ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant

PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More...

NCBI chr 4:14,401,681...14,559,342
Ensembl chr 4:14,408,116...14,559,454

G

OTU deubiquitinase with linear linkage specificity

ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant

PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More...

NCBI chr 4:14,358,556...14,395,539
Ensembl chr 4:14,358,538...14,389,987

autosomal recessive craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein alpha 1

ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive

PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532

NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339

Bamforth-Lazarus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

butyrylcholinesterase

CTD Direct Evidence: marker/mechanism

NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286

G

forkhead box E1

ClinVar Annotator: match by term: Bamforth-Lazarus syndrome

PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More...

NCBI chr12:41,555,901...41,559,914
Ensembl chr12:41,557,568...41,558,686

Bartsocas-Papas Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

receptor interacting serine/threonine kinase 4

ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE

PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More...

NCBI chr 2:85,627,307...85,654,079
Ensembl chr 2:85,627,073...85,653,927

Bartsocas-Papas Syndrome 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

component of inhibitor of nuclear factor kappa B kinase complex

ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2

NCBI chr 9:93,219,374...93,263,077
Ensembl chr 9:93,219,383...93,262,700

Basel-Vanagaite-Smirin-Yosef syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 25

ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome

PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More...

NCBI chr 6:42,979,616...42,994,901
Ensembl chr 6:42,979,674...42,994,865

BILATERAL CLEFT LIP

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox C13

Ectodermal dysplasia-9

NCBI chr11:50,039,034...50,057,178
Ensembl chr11:50,049,509...50,055,895

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chr11:18,985,103...19,234,328
Ensembl chr11:18,985,199...19,234,309

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:115,608,059...115,610,248
Ensembl chr X:115,608,810...115,610,150

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

NCBI chr25:63,110,626...63,150,602
Ensembl chr25:63,110,772...63,150,017

Bisphosphonate-Associated Osteonecrosis of the Jaw

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

treatment

associated with Multiple Myeloma

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

blepharocheilodontic syndrome 1

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cadherin-1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1

PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More...

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

blepharocheilodontic syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin delta 1

ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 | ClinVar Annotator: match by term: CTNND1-related condition

PMID:25741868 PMID:28301459 PMID:28492532 PMID:29805042 PMID:32196547 More...

NCBI chr 1:15,408,581...15,466,457
Ensembl chr 1:15,411,454...15,466,456

Braddock-Carey Syndrome 2

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 15

ClinVar Annotator: match by term: Braddock-carey syndrome 2

PMID:25741868 PMID:28150392

NCBI chr22:6,238,804...6,325,804
Ensembl chr22:6,249,567...6,325,510

Carey-Fineman-Ziter syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More...

NCBI chr12:4,611,952...4,623,373
Ensembl chr12:4,612,268...4,622,381

Carey-Fineman-Ziter Syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomaker, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1

PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 More...

NCBI chr12:4,611,952...4,623,373
Ensembl chr12:4,612,268...4,622,381

Carey-Fineman-Ziter Syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myomixer, myoblast fusion factor

ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2

Catel Manzke syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kynureninase

ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME

PMID:25741868 PMID:31923704 PMID:33942433

NCBI chr10:28,230,129...28,394,103
Ensembl chr10:28,230,508...28,394,076

G

TDP-glucose 4,6-dehydratase

ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition

PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More...

NCBI chr 3:73,403,520...73,424,985
Ensembl chr 3:73,400,485...73,424,892

CATIFA Syndrome

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIC1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Catifa syndrome | ClinVar Annotator: match by term: RIC1-related condition

PMID:25741868 PMID:27878435 PMID:31932796

NCBI chr12:73,738,646...73,887,518
Ensembl chr12:73,740,954...73,886,295

cerebral cavernous malformation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCM2 scaffold protein

ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More...

NCBI chr21:13,606,716...13,687,656
Ensembl chr21:13,606,472...13,656,275

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr21:13,594,969...13,603,436
Ensembl chr21:13,598,304...13,605,614

cerebral cavernous malformation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

programmed cell death 10

exacerbates
onset

ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More...

RGD:401827114 RGD:401827115

NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470

G

serpin family I member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation 3

PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532

NCBI chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701

cerebrocostomandibular syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

small nuclear ribonucleoprotein polypeptides B and B1

ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome | ClinVar Annotator: match by term: SNRPB-related condition

PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More...

NCBI chr 2:54,064,240...54,073,341
Ensembl chr 2:54,063,999...54,073,367

cherubism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adducin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778

G

ATP synthase membrane subunit e

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,114,033...48,115,963
Ensembl chr27:48,113,477...48,115,896

G

complexin 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,959,109...48,002,338
Ensembl chr27:47,959,091...48,002,527

G

C-terminal binding protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,533,490...47,570,505
Ensembl chr27:47,544,682...47,570,636

G

diacylglycerol kinase theta

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,804,904...47,819,291
Ensembl chr27:47,805,017...47,817,583

G

docking protein 7

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,240,766...45,271,605
Ensembl chr27:45,241,817...45,269,021

G

family with sequence similarity 193 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,028,534...46,227,991
Ensembl chr27:46,028,533...46,168,051

G

family with sequence similarity 53 member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,105,860...47,131,400
Ensembl chr27:47,089,353...47,131,749

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

fibroblast growth factor receptor like 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,752,316...47,766,771
Ensembl chr27:47,750,626...47,755,929

G

cyclin G associated kinase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,852,548...47,935,691
Ensembl chr27:47,852,588...47,935,874

G

G protein-coupled receptor kinase 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,691,936...45,765,334

G

HAUS augmin like complex subunit 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,522,988...46,533,497
Ensembl chr27:46,522,991...46,533,408

G

HGF activator

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,283,213...45,290,922
Ensembl chr27:45,283,206...45,290,644

G

huntingtin

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,493,467...45,657,690
Ensembl chr27:45,497,352...45,657,621

G

alpha-L-iduronidase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,778,220...47,794,435
Ensembl chr27:47,778,335...47,794,352

G

leucine zipper and EF-hand containing transmembrane protein 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,912,882...46,954,295
Ensembl chr27:46,912,819...46,956,164

G

endosomal/lysosomal potassium channel TMEM175

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,819,512...47,852,455
Ensembl chr27:47,816,482...47,852,472

G

zinc finger protein 141

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,312,947...48,350,404

G

macrophage erythroblast attacher, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,425,276...47,473,618
Ensembl chr27:47,425,185...47,473,626

G

major facilitator superfamily domain containing 10

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,806,889...45,811,122
Ensembl chr27:45,807,306...45,810,849

G

Myb/SANT DNA binding domain containing 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,480,897...45,490,192
Ensembl chr27:45,480,545...45,491,188

G

MAX dimerization protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,502,767...46,517,500

G

myosin light chain 5

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,106,168...48,112,434
Ensembl chr27:48,106,205...48,109,642

G

N-acetyltransferase 8 like

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,697,086...46,703,494
Ensembl chr27:46,698,845...46,703,413

G

negative elongation factor complex member A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,759,742...46,786,835
Ensembl chr27:46,760,707...46,787,090

G

NELL2 interacting cell ontogeny regulator 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,719,529...46,721,549

G

NOP14 nucleolar protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,765,452...45,803,010
Ensembl chr27:45,765,603...45,806,730

G

nuclear receptor binding SET domain protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792

G

polycomb group ring finger 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,015,976...48,077,688
Ensembl chr27:48,020,010...48,053,520

G

phosphodiesterase 6B

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,117,495...48,168,727
Ensembl chr27:48,118,190...48,162,368

G

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,243,098...48,286,642
Ensembl chr27:48,241,534...48,286,607

G

DNA polymerase nu

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,523,052...46,694,474

G

regulator of G protein signaling 12

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:45,302,193...45,444,012

G

Ras like without CAAX 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr20:7,965,944...7,979,396
Ensembl chr20:7,966,057...7,976,819

G

ring finger protein 212

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,665,652...47,705,754

G

ring finger protein 4

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,245,786...46,290,671

G

SH3 domain binding protein 2

ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw

PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More...

NCBI chr27:45,919,717...45,961,355
Ensembl chr27:45,920,171...45,942,425

G

stem-loop histone mRNA binding protein

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,054,154...47,075,104
Ensembl chr27:47,054,787...47,074,537

G

solute carrier family 26 member 1

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,787,201...47,802,834
Ensembl chr27:47,789,705...47,793,743

G

solute carrier family 49 member 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:48,097,722...48,106,367
Ensembl chr27:48,098,727...48,106,238

G

spondin 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,609,170...47,615,507
Ensembl chr27:47,609,922...47,615,496

G

transforming acidic coiled-coil containing protein 3

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,021,970...47,045,571
Ensembl chr27:47,021,965...47,045,223

G

transmembrane protein 129, E3 ubiquitin ligase

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,045,579...47,050,641
Ensembl chr27:47,045,427...47,051,327

G

TNFAIP3 interacting protein 2

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,001,814...46,017,676
Ensembl chr27:46,001,872...46,018,494

G

UV stimulated scaffold protein A

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:47,378,310...47,418,861
Ensembl chr27:47,378,770...47,417,559

G

zinc finger FYVE-type containing 28

ClinVar Annotator: match by term: Fibrous dysplasia of jaw

NCBI chr27:46,340,014...46,495,299
Ensembl chr27:46,340,244...46,495,651

cleft lip

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:39,140,288...39,271,169
Ensembl chr20:39,140,922...39,267,638

G

ADAM metallopeptidase with thrombospondin type 1 motif 20

Cleft lip with or without cleft palate, ADAMTS20-related

PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248

NCBI chr11:39,571,228...39,768,386
Ensembl chr11:39,572,013...39,767,590

G

Rho GTPase activating protein 29

ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate

NCBI chr20:39,031,352...39,096,227
Ensembl chr20:39,036,500...39,097,068

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:73,289,836...73,310,312
Ensembl chr 4:73,289,652...73,312,358

G

bone morphogenetic protein 4

susceptibility

DNA:polymorphism:cds:p.V152A(human)
DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant

PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More...

RGD:13442495 RGD:13442497

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

G

catenin delta 1

ClinVar Annotator: match by term: Cleft lip with or without cleft palate

PMID:25741868 PMID:29805042

NCBI chr 1:15,408,581...15,466,457
Ensembl chr 1:15,411,454...15,466,456

G

epithelial splicing regulatory protein 2

ClinVar Annotator: match by term: Cleft lip with or without cleft palate

NCBI chr 5:59,184,624...59,192,842
Ensembl chr 5:59,186,167...59,197,003

G

fibroblast growth factor 1

DNA:SNP: :rs34010 (human)

NCBI chr23:45,220,827...45,328,387
Ensembl chr23:45,220,800...45,328,328

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,089,394...70,157,423

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:1,779,126...1,811,427
Ensembl chr 3:1,779,192...1,812,784

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human)

PMID:17963255 PMID:24613087

NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

growth differentiation factor 6

NCBI chr 8:91,105,663...91,124,059
Ensembl chr 8:91,107,857...91,123,874

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant

PMID:25741868 PMID:28492532

NCBI chr25:19,648,131...19,665,722

G

kinesin family member 7

DNA:SNPs:introns:rs4932238,rs4932240(human)

NCBI chr29:8,172,294...8,193,775
Ensembl chr29:8,170,883...8,191,323

G

protein patched homolog 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985

G

cadherin-1

susceptibility

DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate

PMID:15831593 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 More...

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

MAF bZIP transcription factor B

CTD Direct Evidence: marker/mechanism

NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)

NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

no_association
susceptibility

DNA:SNP:cds:1958G>A(human)

PMID:18261183 PMID:25129243

RGD:12910961 RGD:12910962

NCBI chr24:41,590,655...41,663,551
Ensembl chr24:41,590,590...41,666,952

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism: :c.677C>T(human)
CTD Direct Evidence: marker/mechanism

PMID:16470725 PMID:27387868

NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

nectin cell adhesion molecule 1

cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X

NCBI chr 1:111,046,310...111,116,906
Ensembl chr 1:111,046,333...111,116,698

G

noggin

susceptibility

DNA:SNP: : rs227727 (human)
DNA:SNP: :rs227731(human)

PMID:25339627 PMID:25704602

RGD:11251786 RGD:12801482

NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr21:119,174,829...119,196,840

G

netrin 1

ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate

NCBI chr16:8,359,682...8,603,231
Ensembl chr16:8,379,129...8,603,223

G

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Cleft lip with or without cleft palate

NCBI chr11:18,985,103...19,234,328
Ensembl chr11:18,985,199...19,234,309

G

pleckstrin homology domain containing A7

ClinVar Annotator: match by term: Cleft lip with or without cleft palate

NCBI chr 1:47,933,468...48,155,749

G

protein O-mannosyltransferase 1

associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon

NCBI chr12:6,620,179...6,639,051
Ensembl chr12:6,618,312...6,639,024

G

receptor tyrosine kinase like orphan receptor 2

ClinVar Annotator: match by term: Cleft lip

NCBI chr12:102,172,288...102,397,297

G

syndecan 2

NCBI chr 8:91,451,808...91,570,778
Ensembl chr 8:91,552,647...91,568,828

G

solute carrier family 19 member 1

susceptibility

DNA:SNP: :80G>A (human)
CTD Direct Evidence: marker/mechanism

PMID:18797703 PMID:21254359

NCBI chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,357,611...59,362,705
Ensembl chr 3:59,358,394...59,359,341

G

small ubiquitin like modifier 1

ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant

NCBI chr10:87,917,324...87,957,152

G

transcobalamin 2

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,489,849...13,511,360
Ensembl chr19:13,490,645...13,511,810

G

tumor protein p63

ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant

NCBI chr15:83,861,489...84,126,675

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856

G

zinc finger protein 462

ClinVar Annotator: match by term: Cleft lip

NCBI chr12:32,532,853...32,687,262
Ensembl chr12:32,520,334...32,685,464

CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyaluronidase 2

ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

NCBI chr22:11,704,422...11,710,013
Ensembl chr22:11,703,790...11,709,454

Cleft Lip with or without Cleft Palate, Nonsyndromic, 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8

PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More...

NCBI chr15:83,861,489...84,126,675

cleft lip-palate-ectodermal dysplasia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome

PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More...

NCBI chr 1:111,046,310...111,116,906
Ensembl chr 1:111,046,333...111,116,698

cleft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC membrane recruitment protein 1

ClinVar Annotator: match by term: Cleft palate

NCBI chr X:54,568,751...54,591,284
Ensembl chr X:54,573,476...54,576,880

G

betaine--homocysteine S-methyltransferase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:73,289,836...73,310,312
Ensembl chr 4:73,289,652...73,312,358

G

basonuclin zinc finger protein 2

CTD Direct Evidence: marker/mechanism

NCBI chr12:62,775,827...63,233,077
Ensembl chr12:62,777,045...63,223,696

G

calcium/calmodulin dependent serine protein kinase

CTD Direct Evidence: marker/mechanism
DNA:insertion

NCBI chr X:38,704,623...39,121,309

G

core-binding factor subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 5:60,356,303...60,445,793
Ensembl chr 5:60,356,272...60,445,729

G

cell division cycle 42

NCBI chr20:110,568,004...110,608,318
Ensembl chr20:110,569,352...110,582,562

G

component of inhibitor of nuclear factor kappa B kinase complex

CTD Direct Evidence: marker/mechanism

NCBI chr 9:93,219,374...93,263,077
Ensembl chr 9:93,219,383...93,262,700

G

collagen type XI alpha 2 chain

DNA:SNPs, haplotypes: :rs3129208 (human)
DNA:SNPs, haplotypes: :multiple

PMID:20672350 PMID:22112025

RGD:12436724 RGD:12904711

NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625

G

collagen type II alpha 1 chain

susceptibility

CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)

PMID:15562585 PMID:20672350

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

G

discs large MAGUK scaffold protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:89,937,900...90,214,976
Ensembl chr15:90,055,964...90,215,652

G

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Cleft palate

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr21:36,350,606...36,722,018
Ensembl chr21:36,350,707...36,720,511

G

epidermal growth factor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516

G

fibroblast growth factor 10

CTD Direct Evidence: marker/mechanism

NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,089,394...70,157,423

G

fibroblast growth factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,746,195...4,755,654
Ensembl chr 1:4,746,696...4,754,924

G

fibroblast growth factor 7

CTD Direct Evidence: marker/mechanism

NCBI chr26:33,802,349...33,867,743
Ensembl chr26:33,802,328...33,867,333

G

fibroblast growth factor 8

CTD Direct Evidence: marker/mechanism

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

G

fibroblast growth factor 9

CTD Direct Evidence: marker/mechanism

NCBI chr 3:1,779,126...1,811,427
Ensembl chr 3:1,779,192...1,812,784

G

fibroblast growth factor receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

PMID:17963255 PMID:29526646

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

fibroblast growth factor receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

filamin A

ClinVar Annotator: match by term: Cleft palate

PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More...

NCBI chr X:128,657,580...128,683,812
Ensembl chr X:128,657,393...128,680,531

G

filamin B

susceptibility

DNA:SNPs::

NCBI chr22:19,304,822...19,468,037
Ensembl chr22:19,304,781...19,468,036

G

frizzled class receptor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 1:78,164,243...78,199,296
Ensembl chr 1:78,188,630...78,198,187

G

GATA binding protein 6

protein:decreased expression:secondary palatal shelf (mouse)

NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746

G

growth differentiation factor 6

NCBI chr 8:91,105,663...91,124,059
Ensembl chr 8:91,107,857...91,123,874

G

GLI family zinc finger 3

NCBI chr21:16,386,700...16,665,648
Ensembl chr21:16,549,789...16,662,238

G

G protein subunit beta 1

ClinVar Annotator: match by term: Cleft palate

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More...

NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667

G

golgin B1

NCBI chr22:59,124,023...59,223,181
Ensembl chr22:59,143,188...59,223,656

G

grainyhead like transcription factor 3

ClinVar Annotator: match by term: nonsyndromic cleft palate

NCBI chr20:108,338,891...108,375,351
Ensembl chr20:108,330,121...108,361,887

G

inositol polyphosphate-1-phosphatase

ClinVar Annotator: match by term: Cleft palate

NCBI chr10:75,852,262...75,880,494
Ensembl chr10:75,869,115...75,880,492

G

inositol polyphosphate-5-phosphatase E

ClinVar Annotator: match by term: Cleft palate

PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More...

NCBI chr12:1,763,800...1,776,139
Ensembl chr12:1,763,865...1,776,712

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Cleft palate

PMID:12920575 PMID:25741868

NCBI chr25:19,648,131...19,665,722

G

kinesin family member 7

CTD Direct Evidence: marker/mechanism

NCBI chr29:8,172,294...8,193,775
Ensembl chr29:8,170,883...8,191,323

G

protein patched homolog 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985

G

Meis homeobox 2

ClinVar Annotator: match by term: Cleft palate

NCBI chr26:45,844,214...46,054,325

G

MAX network transcriptional repressor

CTD Direct Evidence: marker/mechanism

NCBI chr16:2,015,450...2,032,742
Ensembl chr16:2,014,450...2,033,024

G

msh homeobox 1

DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism

PMID:12163415 PMID:12701100 PMID:12807959 PMID:15301380

NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006

G

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

susceptibility

DNA:SNP:cds:1958 G>A (rs2236225)(human)

NCBI chr24:41,590,655...41,663,551
Ensembl chr24:41,590,590...41,666,952

G

5-methyltetrahydrofolate-homocysteine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

myosin XVA

ClinVar Annotator: match by term: Cleft palate

PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532

NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009

G

myosin XIX

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:28492532

NCBI chr16:31,270,855...31,313,273
Ensembl chr16:31,271,586...31,312,621

G

nectin cell adhesion molecule 1

cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X

NCBI chr 1:111,046,310...111,116,906
Ensembl chr 1:111,046,333...111,116,698

G

NEDD4 like E3 ubiquitin protein ligase

CTD Direct Evidence: marker/mechanism

NCBI chr18:21,326,276...21,683,817
Ensembl chr18:21,327,567...21,683,905

G

NIMA related kinase 9

ClinVar Annotator: match by term: Cleft palate

NCBI chr24:52,297,211...52,342,359
Ensembl chr24:52,296,261...52,342,724

G

nitric oxide synthase 3

CTD Direct Evidence: marker/mechanism

NCBI chr21:119,174,829...119,196,840

G

paired box 9

NCBI chr24:13,454,839...13,470,564
Ensembl chr24:13,455,589...13,473,505

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: nonsyndromic cleft palate

PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

post-GPI attachment to proteins phospholipase 3

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:30345601

NCBI chr16:66,478,426...66,495,631
Ensembl chr16:66,478,679...66,495,929

G

phosphatidylinositol glycan anchor biosynthesis class W

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:28492532

NCBI chr16:31,267,404...31,279,450
Ensembl chr16:31,267,562...31,269,073

G

paired like homeodomain 2

NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318

G

protein arginine methyltransferase 1

NCBI chr 6:42,854,873...42,863,113
Ensembl chr 6:42,854,918...42,863,014

G

retinoic acid receptor gamma

CTD Direct Evidence: marker/mechanism

NCBI chr11:49,319,104...49,340,725
Ensembl chr11:49,319,839...49,328,656

G

arginine-glutamic acid dipeptide repeats

NCBI chr20:122,946,759...123,408,428
Ensembl chr20:123,109,364...123,408,631

G

receptor tyrosine kinase like orphan receptor 2

susceptibility

DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human)

NCBI chr12:102,172,288...102,397,297

G

receptor like tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr15:56,127,048...56,217,407
Ensembl chr15:56,127,130...56,216,407

G

SATB homeobox 2

ClinVar Annotator: match by term: Cleft palate

PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 More...

NCBI chr10:84,761,450...84,954,339
Ensembl chr10:84,761,426...84,954,361

G

syndecan 2

NCBI chr 8:91,451,808...91,570,778
Ensembl chr 8:91,552,647...91,568,828

G

sonic hedgehog signaling molecule

NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395

G

SHOX homeobox 2

NCBI chr15:32,684,598...32,694,640
Ensembl chr15:32,684,705...32,692,699

G

SIM bHLH transcription factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 2:80,680,061...80,730,331
Ensembl chr 2:80,680,678...80,725,951

G

SIX homeobox 2

NCBI chr14:62,212,920...62,219,976
Ensembl chr14:62,213,115...62,220,069

G

solute carrier family 19 member 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Cleft palate

PMID:22426308 PMID:25741868 PMID:28973083 PMID:33461977

NCBI chr 6:9,943,162...10,044,476

G

SRY-box transcription factor 3

ClinVar Annotator: match by term: Cleft palate

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:115,608,059...115,610,248
Ensembl chr X:115,608,810...115,610,150

G

sperm antigen with calponin homology and coiled-coil domains 1 like

NCBI chr19:7,488,821...7,539,961
Ensembl chr19:7,488,832...7,539,952

G

sprouty RTK signaling antagonist 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:59,357,611...59,362,705
Ensembl chr 3:59,358,394...59,359,341

G

small ubiquitin like modifier 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,917,324...87,957,152

G

T-box transcription factor 1

PMID:25556186 PMID:30121012

RGD:155631306 RGD:155641231

NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244

G

T-box transcription factor 22

cleft palate with ankyloglossia, OMIM:303400

NCBI chr X:68,969,570...68,991,933
Ensembl chr X:68,978,310...68,987,228

G

teneurin transmembrane protein 4

ClinVar Annotator: match by term: Cleft palate

NCBI chr 1:69,864,570...70,450,485
Ensembl chr 1:69,869,359...70,110,710

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

transforming growth factor beta 2

CTD Direct Evidence: marker/mechanism

NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470

G

transforming growth factor beta 3

CTD Direct Evidence: marker/mechanism

PMID:7493022 PMID:17097601 PMID:26971374

NCBI chr24:53,203,593...53,227,483
Ensembl chr24:53,203,301...53,227,325

G

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

NCBI chr25:63,110,626...63,150,602
Ensembl chr25:63,110,772...63,150,017

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: Cleft palate

PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More...

NCBI chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593

G

tumor protein p63

CTD Direct Evidence: marker/mechanism

NCBI chr15:83,861,489...84,126,675

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:60,030,640...60,043,297
Ensembl chr18:60,030,658...60,041,856

Cleft Palate with Ankyloglossia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

T-box transcription factor 22

ClinVar Annotator: match by term: Cleft palate with ankyloglossia

PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330

NCBI chr X:68,969,570...68,991,933
Ensembl chr X:68,978,310...68,987,228

cleft palate, cardiac defects, and intellectual disabillity

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Meis homeobox 2

ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder

PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More...

NCBI chr26:45,844,214...46,054,325

Cleft Palate, Proliferative Retinopathy, and Developmental Delay

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 32

ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay

PMID:25741868 PMID:30976112

NCBI chr 1:67,866,072...67,879,177
Ensembl chr 1:67,864,609...67,879,160

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 1A

ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies

PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More...

NCBI chr20:109,592,761...109,657,885
Ensembl chr20:109,593,074...109,657,839

cleft palate-lateral synechia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

OMIM:119550

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

cleft soft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

ClinVar Annotator: match by term: Cleft soft palate

PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More...

NCBI chr15:44,489,804...44,590,284
Ensembl chr15:44,490,042...44,591,526

G

transforming growth factor beta receptor 2

OMIM:119570

NCBI chr15:75,112,903...75,200,263
Ensembl chr15:75,112,561...75,197,711

Coffin-Siris syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Coffin-Siris syndrome

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr13:84,351,298...84,799,691

G

lysine demethylase 8

ClinVar Annotator: match by term: Coffin-Siris syndrome

NCBI chr 5:24,907,345...24,927,028
Ensembl chr 5:24,907,657...24,928,995

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability

PMID:18414213 PMID:28512736

NCBI chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More...

NCBI chr 6:9,943,162...10,044,476

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22726846 More...

NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

CTD Direct Evidence: marker/mechanism

NCBI chr16:65,539,138...65,559,810
Ensembl chr16:65,541,513...65,561,401

G

SRY-box transcription factor 11

ClinVar Annotator: match by term: Coffin-Siris syndrome

PMID:25741868 PMID:26543203

NCBI chr14:101,982,551...101,991,305
Ensembl chr14:101,989,895...101,991,220

Coffin-Siris syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12

PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

AT-rich interaction domain 1B

ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | 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 Annotator: match by term: Mental retardation, autosomal dominant 12

PMID:9536098 PMID:10361086 PMID:15057123 PMID:16199547 PMID:17576681 More...

NCBI chr13:84,351,298...84,799,691

G

arylsulfatase L

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 More...

NCBI chr X:1,141,316...1,168,690

G

BRD4 interacting chromatin remodeling complex associated protein

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chr 6:40,927,931...41,024,080
Ensembl chr 6:40,990,615...41,023,222

G

double PHD fingers 2

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

PMID:25741868 PMID:29429572

NCBI chr 1:8,888,534...8,908,446
Ensembl chr 1:8,886,710...8,908,522

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868

NCBI chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Coffin-Siris syndrome 1

NCBI chr 6:9,943,162...10,044,476

Coffin-Siris syndrome 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit D1

ClinVar Annotator: match by term: Coffin-Siris syndrome 11

PMID:25741868 PMID:30879640

NCBI chr11:46,313,998...46,328,672
Ensembl chr11:46,314,404...46,328,725

Coffin-Siris syndrome 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRD4 interacting chromatin remodeling complex associated protein

ClinVar Annotator: match by term: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12

PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675

NCBI chr 6:40,927,931...41,024,080
Ensembl chr 6:40,990,615...41,023,222

Coffin-Siris syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actinin alpha 4

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2

PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More...

NCBI chr 6:33,290,639...33,373,059
Ensembl chr 6:33,290,622...33,374,693

G

AT-rich interaction domain 1A

ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2

PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More...

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

HR lysine demethylase and nuclear receptor corepressor

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2

PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532

NCBI chr 8:20,183,797...20,207,510
Ensembl chr 8:20,183,677...20,198,700

Coffin-Siris syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

derlin 3

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

NCBI chr19:6,944,291...6,949,948
Ensembl chr19:6,947,403...6,949,845

G

matrix metallopeptidase 11

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

NCBI chr19:6,889,343...6,900,563
Ensembl chr19:6,889,385...6,899,788

G

solute carrier family 2 member 11

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

NCBI chr19:6,954,917...6,992,241
Ensembl chr19:6,959,349...6,991,552

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

susceptibility

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3

PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More...

NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784

Coffin-Siris syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition

PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More...

NCBI chr 6:9,943,162...10,044,476

Coffin-Siris syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

susceptibility

ClinVar Annotator: match by term: Coffin-Siris syndrome 5

PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532

NCBI chr16:65,539,138...65,559,810
Ensembl chr16:65,541,513...65,561,401

Coffin-Siris syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6

PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More...

NCBI chr11:41,933,650...42,117,495
Ensembl chr11:42,028,083...42,118,892

G

GRB10 interacting GYF protein 1

ClinVar Annotator: match by term: Coffin-Siris syndrome 6

PMID:25741868 PMID:35917186

NCBI chr28:12,524,525...12,533,324
Ensembl chr28:12,524,109...12,533,547

Coffin-Siris syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

double PHD fingers 2

ClinVar Annotator: match by term: Coffin-Siris syndrome 7 | ClinVar Annotator: match by term: DPF2-related condition

PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137

NCBI chr 1:8,888,534...8,908,446
Ensembl chr 1:8,886,710...8,908,522

Coffin-Siris syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit C2

ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition

PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More...

NCBI chr11:52,103,075...52,131,070
Ensembl chr11:52,104,345...52,131,079

Coffin-Siris syndrome 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SRY-box transcription factor 11

ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition

PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More...

NCBI chr14:101,982,551...101,991,305
Ensembl chr14:101,989,895...101,991,220

congenital symmetric circumferential skin creases 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin beta class I

ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition

PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More...

NCBI chr17:41,728,103...41,733,206
Ensembl chr17:41,729,143...41,733,243

congenital symmetric circumferential skin creases 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microtubule associated protein RP/EB family member 2

ClinVar Annotator: match by term: MAPRE2-related condition | ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2

PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:28492532 More...

NCBI chr18:45,615,849...45,775,688
Ensembl chr18:45,617,280...45,716,637

corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

immunoglobulin binding protein 1

ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition

PMID:25741868 PMID:28492532

NCBI chr X:59,970,740...60,008,066
Ensembl chr X:59,971,234...60,008,047

Craniomandibular Disorders

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc metallopeptidase STE24

NCBI chr20:92,605,495...92,648,110
Ensembl chr20:92,605,309...92,648,114

craniometaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANKH inorganic pyrophosphate transport regulator

OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378

NCBI chr 4:14,401,681...14,559,342
Ensembl chr 4:14,408,116...14,559,454

distal arthrogryposis type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

piezo type mechanosensitive ion channel component 2

ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome

PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More...

NCBI chr18:70,161,961...70,623,912
Ensembl chr18:70,246,132...70,622,611

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3

PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More...

NCBI chr15:83,861,489...84,126,675

EEC syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More...

NCBI chr15:83,861,489...84,126,675

Familial Cystic Parathyroid Adenomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 73

ClinVar Annotator: match by term: Cystic parathyroid adenoma

NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812

frontonasal dysplasia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALX homeobox 1

ClinVar Annotator: match by term: ALX1-related condition | ClinVar Annotator: match by term: Frontonasal dysplasia 3

PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532

NCBI chr11:80,687,799...80,717,886
Ensembl chr11:80,696,271...80,717,574

GARG-MISHRA PROGEROID SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

translocase of outer mitochondrial membrane 7

ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome

PMID:36282599 PMID:36299998

NCBI chr21:35,485,860...35,496,281
Ensembl chr21:35,485,685...35,497,325

gnathodiaphyseal dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anoctamin 5

ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions

PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More...

NCBI chr 1:42,722,072...42,823,340
Ensembl chr 1:42,722,015...42,822,374

G

FA complementation group F

ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia

NCBI chr 1:42,377,150...42,381,653
Ensembl chr 1:42,378,883...42,380,007

G

solute carrier family 17 member 6

ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia

NCBI chr 1:42,634,754...42,677,309
Ensembl chr 1:42,636,512...42,677,165

Hardikar Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mediator complex subunit 12

ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome

PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More...

NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677

Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More...

NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508

Hyperparathyroidism 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

NCBI chr25:36,234,882...36,246,827
Ensembl chr25:36,241,631...36,242,899

G

cell division cycle 73

ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More...

NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812

Impaired intellectual development, anterior maxillary protrusion, and strabismus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sine oculis binding protein homolog

ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition

PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532

NCBI chr13:66,202,747...66,374,992
Ensembl chr13:66,227,944...66,374,736

isolated cleft palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Rho GTPase activating protein 29

ClinVar Annotator: match by term: Isolated cleft palate

NCBI chr20:39,031,352...39,096,227
Ensembl chr20:39,036,500...39,097,068

G

grainyhead like transcription factor 3

ClinVar Annotator: match by term: Isolated cleft palate

PMID:25741868 PMID:27018475 PMID:28492532

NCBI chr20:108,338,891...108,375,351
Ensembl chr20:108,330,121...108,361,887

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Isolated cleft palate

PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

G

SATB homeobox 2

ClinVar Annotator: match by term: Isolated cleft palate

PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More...

NCBI chr10:84,761,450...84,954,339
Ensembl chr10:84,761,426...84,954,361

Jaw Abnormalities

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

orthodenticle homeobox 2

CTD Direct Evidence: marker/mechanism

NCBI chr24:33,975,043...33,984,816

G

proprotein convertase subtilisin/kexin type 5

CTD Direct Evidence: marker/mechanism

NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709

G

twisted gastrulation BMP signaling modulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:68,225,350...68,289,458
Ensembl chr18:68,225,343...68,290,969

Jaw Cysts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

plasminogen activator, urokinase

severity

protein:increased expression:cyst, liquid (human)

NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286

Jaw Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

jaw-winking syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 5C

ClinVar Annotator: match by term: Jaw-winking syndrome

NCBI chr10:34,285,048...34,441,918
Ensembl chr10:34,285,037...34,444,863

G

myosin heavy chain 10

ClinVar Annotator: match by term: Jaw-winking syndrome

NCBI chr16:7,837,527...7,989,687
Ensembl chr16:7,835,843...7,989,788

Kapur Toriello Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

ClinVar Annotator: match by term: Kapur-Toriello syndrome

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

Kniest dysplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Kniest dysplasia

PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More...

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

Larsen syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium/calmodulin dependent protein kinase II alpha

ClinVar Annotator: match by term: Larsen syndrome, dominant type

NCBI chr23:52,829,438...52,899,428
Ensembl chr23:52,829,350...52,899,375

G

carbohydrate sulfotransferase 3

ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome

PMID:25741868 PMID:28492532

NCBI chr 9:59,292,705...59,295,821
Ensembl chr 9:59,293,158...59,300,866

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Larsen syndrome

PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More...

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

filamin B

ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type

PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More...

NCBI chr22:19,304,822...19,468,037
Ensembl chr22:19,304,781...19,468,036

Mandibular Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

G

zinc metallopeptidase STE24

CTD Direct Evidence: marker/mechanism

NCBI chr20:92,605,495...92,648,110
Ensembl chr20:92,605,309...92,648,114

Mandibular Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr21:109,495,525...109,690,261

G

catenin beta 1

mRNA:increased expression:small intestine

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

defensin beta 1

protein:increased expression:respiratory system fluid/secretion

NCBI chr 8:6,643,753...6,652,209
Ensembl chr 8:6,643,556...6,651,699

Maxillary Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

matrix metallopeptidase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004

Maxillary Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709

Meier-Gorlin syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 5

OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805

NCBI chr17:15,696,379...15,819,454
Ensembl chr17:15,696,580...15,819,564

G

cell division cycle 45

CTD Direct Evidence: marker/mechanism

NCBI chr19:6,232,610...6,275,743
Ensembl chr19:6,231,591...6,275,294

G

cell division cycle 6

ClinVar Annotator: match by term: Meier-Gorlin syndrome

NCBI chr16:65,873,341...65,888,180
Ensembl chr16:65,871,627...65,888,217

G

chromatin licensing and DNA replication factor 1

ClinVar Annotator: match by term: Meier-Gorlin syndrome

PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More...

NCBI chr 5:74,190,409...74,196,589
Ensembl chr 5:74,190,947...74,195,972

G

DNA replication fork stabilization factor DONSON

ClinVar Annotator: match by term: Meier-Gorlin syndrome

PMID:25741868 PMID:28492532 PMID:31407851 PMID:31784481 PMID:37638758

NCBI chr 2:58,598,341...58,627,279
Ensembl chr 2:58,598,967...58,609,316

G

geminin DNA replication inhibitor

ClinVar Annotator: match by term: Meier-Gorlin syndrome

PMID:11477602 PMID:14973488 PMID:26637980

NCBI chr17:47,462,647...47,474,445
Ensembl chr17:47,461,645...47,474,417

G

minichromosome maintenance complex component 3

ClinVar Annotator: match by term: Meier-Gorlin syndrome

PMID:25741868 PMID:33654309

NCBI chr17:20,222,440...20,243,807
Ensembl chr17:20,222,590...20,243,809

G

minichromosome maintenance complex component 7

ClinVar Annotator: match by term: Meier-Gorlin syndrome

PMID:25741868 PMID:33654309

NCBI chr28:12,976,487...12,985,354
Ensembl chr28:12,977,013...12,985,898

G

origin recognition complex subunit 1

ClinVar Annotator: match by term: EAR, PATELLA, SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Meier-Gorlin syndrome | ClinVar Annotator: match by term: Microtia, absent patellae, micrognathia syndrome

PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More...

NCBI chr20:80,540,331...80,571,989
Ensembl chr20:80,542,532...80,572,237

G

origin recognition complex subunit 4

CTD Direct Evidence: marker/mechanism

PMID:21358631 PMID:21358632

NCBI chr10:33,314,020...33,401,770
Ensembl chr10:33,314,271...33,355,588

G

origin recognition complex subunit 6

ClinVar Annotator: match by term: Meier-Gorlin syndrome

NCBI chr 5:32,538,451...32,547,667
Ensembl chr 5:32,539,847...32,547,778

G

VPS35 retromer complex component

ClinVar Annotator: match by term: Meier-Gorlin syndrome

NCBI chr 5:32,509,037...32,539,371
Ensembl chr 5:32,508,580...32,539,343

Meier-Gorlin syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA replication fork stabilization factor DONSON

ClinVar Annotator: match by term: Meier-Gorlin syndrome 1

NCBI chr 2:58,598,341...58,627,279
Ensembl chr 2:58,598,967...58,609,316

G

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Meier-Gorlin syndrome 1

PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More...

NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704

G

origin recognition complex subunit 1

ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition

PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More...

NCBI chr20:80,540,331...80,571,989
Ensembl chr20:80,542,532...80,572,237

Meier-Gorlin syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

origin recognition complex subunit 4

ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 | ClinVar Annotator: match by term: ORC4-related condition

PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 More...

NCBI chr10:33,314,020...33,401,770
Ensembl chr10:33,314,271...33,355,588

Meier-Gorlin syndrome 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

origin recognition complex subunit 6

ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 | ClinVar Annotator: match by term: ORC6-related condition

PMID:7710253 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More...

NCBI chr 5:32,538,451...32,547,667
Ensembl chr 5:32,539,847...32,547,778

G

VPS35 retromer complex component

ClinVar Annotator: match by term: Meier-Gorlin syndrome 3

NCBI chr 5:32,509,037...32,539,371
Ensembl chr 5:32,508,580...32,539,343

Meier-Gorlin syndrome 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromatin licensing and DNA replication factor 1

ClinVar Annotator: match by term: CDT1-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 4

PMID:9536098 PMID:11477602 PMID:11992493 PMID:16199547 PMID:17576681 More...

NCBI chr 5:74,190,409...74,196,589
Ensembl chr 5:74,190,947...74,195,972

Meier-Gorlin syndrome 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 6

ClinVar Annotator: match by term: CDC6-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 5

PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532

NCBI chr16:65,873,341...65,888,180
Ensembl chr16:65,871,627...65,888,217

Meier-Gorlin syndrome 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

geminin DNA replication inhibitor

ClinVar Annotator: match by term: GMNN-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 6

PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 PMID:28492532

NCBI chr17:47,462,647...47,474,445
Ensembl chr17:47,461,645...47,474,417

Meier-Gorlin syndrome 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 45

ClinVar Annotator: match by term: CDC45-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 7

PMID:25741868 PMID:27374770 PMID:28492532 PMID:29036220 PMID:30986546 More...

NCBI chr19:6,232,610...6,275,743
Ensembl chr19:6,231,591...6,275,294

Meier-Gorlin syndrome 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

minichromosome maintenance complex component 5

ClinVar Annotator: match by term: MCM5-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 8

PMID:25741868 PMID:28198391 PMID:28492532

NCBI chr19:18,164,743...18,189,223
Ensembl chr19:18,164,879...18,189,284

Micrognathism

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 9

ClinVar Annotator: match by term: Micrognathia

PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More...

NCBI chr11:21,658,804...21,797,851
Ensembl chr11:21,658,794...21,797,263

G

dynein cytoplasmic 2 heavy chain 1

ClinVar Annotator: match by term: Micrognathia

NCBI chr 1:94,484,090...94,849,960
Ensembl chr 1:94,484,512...94,849,581

G

inositol polyphosphate-5-phosphatase E

ClinVar Annotator: match by term: Micrognathia

PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More...

NCBI chr12:1,763,800...1,776,139
Ensembl chr12:1,763,865...1,776,712

G

methyl-CpG binding protein 2

ClinVar Annotator: match by term: Micrognathia

PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More...

NCBI chr X:128,445,028...128,519,892
Ensembl chr X:128,453,577...128,455,785

G

noggin

DNA:SNP:rs1348322(human)

NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174

G

post-GPI attachment to proteins 2

ClinVar Annotator: match by term: Micrognathia

NCBI chr 1:62,896,694...62,924,478

G

paired like homeodomain 1

ClinVar Annotator: match by term: Micrognathia

NCBI chr23:37,807,486...37,820,540
Ensembl chr23:37,807,378...37,813,948

G

RAB5 interacting factor

ClinVar Annotator: match by term: Micrognathia

PMID:24194475 PMID:35614220

NCBI chr 2:57,473,593...57,477,322
Ensembl chr 2:57,473,596...57,477,700

G

splicing factor 3b subunit 4

ClinVar Annotator: match by term: Micrognathia

G

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: Micrognathia

PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More...

NCBI chr16:15,980,927...16,012,572
Ensembl chr16:15,981,392...15,993,593

Microtia, Hearing Impairment, and Cleft Palate

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

homeobox A1

ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate

NCBI chr21:31,272,410...31,275,503
Ensembl chr21:31,272,889...31,275,551

G

homeobox A2

ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate

PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868

NCBI chr21:31,261,992...31,271,071
Ensembl chr21:31,266,459...31,268,221

multiple benign circumferential skin creases on limbs

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tubulin beta class I

ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome

PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More...

NCBI chr17:41,728,103...41,733,206
Ensembl chr17:41,729,143...41,733,243

Native American myopathy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase H+ transporting V0 subunit a4

ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr21:107,407,831...107,505,300

G

insulin receptor

ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia

PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More...

NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592

G

SH3 and cysteine rich domain 3

ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More...

NCBI chr11:53,149,572...53,163,036
Ensembl chr11:53,154,755...53,163,090

NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

F-box and WD repeat domain containing 11

ClinVar Annotator: match by term: FBXW11-related condition | ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome

PMID:25741868 PMID:28492532 PMID:31402090

NCBI chr23:74,015,964...74,154,285
Ensembl chr23:74,015,964...74,154,062

nevoid basal cell carcinoma syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminopeptidase O (putative)

ClinVar Annotator: match by term: Gorlin syndrome

PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532

NCBI chr12:108,007,895...108,360,361
Ensembl chr12:108,171,743...108,360,041

G

ARF like GTPase 3

ClinVar Annotator: match by term: Gorlin syndrome

PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285

NCBI chr 9:95,703,648...95,737,785

G

cytochrome P450 family 17 subfamily A member 1

ClinVar Annotator: match by term: Gorlin syndrome

PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285

NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180

G

FA complementation group C

ClinVar Annotator: match by term: Gorlin syndrome

PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 More...

NCBI chr12:107,780,087...107,991,828
Ensembl chr12:107,845,135...107,991,237

G

GLI family zinc finger 1

NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269

G

GLI family zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115

G

protein patched homolog 1

ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES

PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More...

NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985

G

patched 2

ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More...

NCBI chr20:87,953,877...87,975,087
Ensembl chr20:87,953,971...87,974,607

G

parathyroid hormone

CTD Direct Evidence: marker/mechanism

NCBI chr 1:51,327,555...51,330,810

G

sideroflexin 2

ClinVar Annotator: match by term: Gorlin syndrome

PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285

NCBI chr 9:95,752,621...95,775,639
Ensembl chr 9:95,762,074...95,776,073

G

sonic hedgehog signaling molecule

NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395

G

smoothened, frizzled class receptor

NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome

PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More...

NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290

G

tripartite motif containing 8

ClinVar Annotator: match by term: Gorlin syndrome

PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285

NCBI chr 9:95,671,622...95,686,701
Ensembl chr 9:95,672,648...95,689,247

G

WW domain binding protein 1 like

ClinVar Annotator: match by term: Gorlin syndrome

PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285

NCBI chr 9:95,780,039...95,855,013
Ensembl chr 9:95,811,108...95,855,426

nevoid basal cell carcinoma syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein patched homolog 1

ClinVar Annotator: match by term: Basal cell nevus syndrome 1

PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More...

NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985

G

patched 2

ClinVar Annotator: match by term: Basal cell nevus syndrome 1

PMID:25741868 PMID:28492532

NCBI chr20:87,953,877...87,975,087
Ensembl chr20:87,953,971...87,974,607

nevoid basal cell carcinoma syndrome 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2

PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More...

NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290

Noonan Like Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Noonan-like syndrome

PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More...

NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

G

cell division cycle 42

ClinVar Annotator: match by term: Noonan-like syndrome

PMID:25741868 PMID:29394990

NCBI chr20:110,568,004...110,608,318
Ensembl chr20:110,569,352...110,582,562

G

ETS2 repressor factor

ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder

PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:28808027 More...

NCBI chr 6:36,452,604...36,460,188
Ensembl chr 6:36,452,577...36,460,122

G

protein tyrosine phosphatase non-receptor type 11

DNA:missense mutations:cds:p.D106A, p.F285L (human)

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS

PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More...

NCBI chr14:68,259,509...68,404,167
Ensembl chr14:68,259,360...68,399,895

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta

ClinVar Annotator: match by term: Noonan-like disorder

PMID:25741868 PMID:31024343

NCBI chr 8:95,786,197...95,821,270
Ensembl chr 8:95,788,305...95,819,197

Noonan syndrome-like disorder with loose anagen hair

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SHOC2 leucine rich repeat scaffold protein

ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair

PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More...

NCBI chr 9:103,857,229...103,954,724
Ensembl chr 9:103,857,218...103,956,602

Noonan syndrome-like disorder with loose anagen hair 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SHOC2 leucine rich repeat scaffold protein

ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME

PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More...

NCBI chr 9:103,857,229...103,954,724
Ensembl chr 9:103,857,218...103,956,602

Noonan syndrome-like disorder with loose anagen hair 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein phosphatase 1 catalytic subunit beta

ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition

PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More...

NCBI chr14:78,802,295...78,852,683
Ensembl chr14:78,804,548...78,852,682

Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Cbl proto-oncogene

ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More...

NCBI chr 1:110,581,049...110,679,284
Ensembl chr 1:110,581,143...110,674,481

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia

PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More...

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

oblique facial clefting 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sperm antigen with calponin homology and coiled-coil domains 1 like

ClinVar Annotator: match by term: Oblique facial clefts | ClinVar Annotator: match by term: Oculomaxillofacial dysostosis

PMID:21703590 PMID:25741868 PMID:28492532

NCBI chr19:7,488,821...7,539,961
Ensembl chr19:7,488,832...7,539,952

Odontogenic Cysts

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SMAD family member 4

NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478

Opitz GBBB syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

midline 1

ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I

PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More...

NCBI chr X:8,897,424...9,289,187
Ensembl chr X:8,895,602...9,076,871

orofacial cleft

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase short chain family member 2

ClinVar Annotator: match by term: Nonsyndromic cleft lip palate

PMID:25741868 PMID:27229527

NCBI chr 2:39,181,446...39,230,164
Ensembl chr 2:39,181,468...39,229,444

G

axin 2

DNA:SNP:cds:rs2240308(p.P50S)(human)

NCBI chr16:55,874,043...55,906,739
Ensembl chr16:55,874,072...55,907,281

G

bone morphogenetic protein 4

ClinVar Annotator: match by term: Orofacial cleft

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

G

centrosomal protein 70

ClinVar Annotator: match by term: Median cleft lip and palate

PMID:19254375 PMID:25741868 PMID:31680349

NCBI chr15:51,944,525...52,047,243
Ensembl chr15:51,969,910...52,046,563

G

filamin A

ClinVar Annotator: match by term: Orofacial clefting

NCBI chr X:128,657,580...128,683,812
Ensembl chr X:128,657,393...128,680,531

G

follistatin

ClinVar Annotator: match by term: Orofacial cleft

NCBI chr 4:49,773,646...49,780,343
Ensembl chr 4:49,773,980...49,780,333

G

growth differentiation factor 11

ClinVar Annotator: match by term: Orofacial cleft

NCBI chr11:51,693,664...51,702,781
Ensembl chr11:51,693,717...51,700,278

G

hexokinase domain containing 1

ClinVar Annotator: match by term: Nonsyndromic cleft lip palate

PMID:25741868 PMID:27229527

NCBI chr 9:62,051,098...62,099,986
Ensembl chr 9:62,052,027...62,099,221

G

glutathione S-transferase Mu 1

no_association

DNA:deletion: : (human)

NCBI chr20:23,854,969...23,861,634

G

cadherin-1

ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft

PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 More...

NCBI chr 5:58,578,244...58,679,677
Ensembl chr 5:58,578,146...58,679,541

G

lipoxygenase homology PLAT domains 1

susceptibility

DNA:SNP:exon:rs1450425 (human)

NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532

G

LDL receptor related protein 6

ClinVar Annotator: match by term: Orofacial cleft

PMID:22813217 PMID:23806086 PMID:26963285

NCBI chr11:12,016,542...12,170,496
Ensembl chr11:12,021,560...12,170,663

G

Meis homeobox 2

DNA:mutations, haplotype insufficiency: :

NCBI chr26:45,844,214...46,054,325

G

msh homeobox 1

OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892

NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006

G

myosin heavy chain 9

DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)

PMID:17337617 PMID:18716610 PMID:19320731 PMID:19891592

RGD:12798509 RGD:12798511 RGD:12798512 RGD:12798514

NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671

G

N-deacetylase and N-sulfotransferase 1

ClinVar Annotator: match by term: Cleft lip/palate

NCBI chr23:53,109,806...53,159,880
Ensembl chr23:53,123,222...53,155,016

G

phytanoyl-CoA 2-hydroxylase

ClinVar Annotator: match by term: Nonsyndromic cleft lip palate

PMID:10767344 PMID:14974078 PMID:16186124 PMID:25133751 PMID:25741868 More...

NCBI chr 9:13,309,059...13,331,606
Ensembl chr 9:13,308,951...13,331,504

G

SWI/SNF related BAF chromatin remodeling complex subunit E1

ClinVar Annotator: match by term: Facial cleft

NCBI chr16:65,539,138...65,559,810
Ensembl chr16:65,541,513...65,561,401

G

T-box transcription factor 22

ClinVar Annotator: match by term: Orofacial cleft

NCBI chr X:68,969,570...68,991,933
Ensembl chr X:68,978,310...68,987,228

G

transcription factor AP-2 alpha

OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892

NCBI chr17:61,750,757...61,769,041

G

von Willebrand factor A domain containing 8

ClinVar Annotator: match by term: Nonsyndromic cleft lip palate

PMID:25741868 PMID:27229527

NCBI chr 3:19,767,190...20,148,027
Ensembl chr 3:19,866,921...20,147,976

orofacial cleft 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ADAMTS like 1

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr12:60,805,450...61,221,464
Ensembl chr12:60,805,479...61,056,333

G

cadherin 11

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr 5:50,652,628...50,825,640
Ensembl chr 5:50,649,627...50,775,440

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Orofacial cleft 1

PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

G

fibroblast growth factor 10

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432

G

PVR cell adhesion molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,127,864...38,141,612

G

MAF bZIP transcription factor B

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684

G

nectin cell adhesion molecule 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:38,320,791...38,361,419
Ensembl chr 6:38,320,933...38,361,742

G

NIPBL cohesin loading factor

ClinVar Annotator: match by term: Orofacial cleft 1

PMID:25741868 PMID:28492532

NCBI chr 4:35,748,112...35,940,075
Ensembl chr 4:35,829,386...35,941,271

G

netrin 1

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr16:8,359,682...8,603,231
Ensembl chr16:8,379,129...8,603,223

G

RUNX family transcription factor 2

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319

G

receptor like tyrosine kinase

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr15:56,127,048...56,217,407
Ensembl chr15:56,127,130...56,216,407

G

TATA-box binding protein associated factor, RNA polymerase I subunit B

ClinVar Annotator: match by term: Orofacial cleft 1

NCBI chr14:97,704,251...97,787,738
Ensembl chr14:97,704,187...97,787,639

G

titin

ClinVar Annotator: match by term: Orofacial cleft 1

PMID:18414213 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 More...

NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205

orofacial cleft 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Orofacial cleft 10

PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676

NCBI chr25:19,648,131...19,665,722

G

small ubiquitin like modifier 1

ClinVar Annotator: match by term: Orofacial cleft 10

NCBI chr10:87,917,324...87,957,152

orofacial cleft 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 | ClinVar Annotator: match by term: Orofacial cleft 11

PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More...

NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225

orofacial cleft 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

distal-less homeobox 4

ClinVar Annotator: match by term: DLX4-related condition | ClinVar Annotator: match by term: Orofacial cleft 15

PMID:25741868 PMID:25954033 PMID:28492532

NCBI chr16:43,360,941...43,368,329
Ensembl chr16:43,361,955...43,366,474

orofacial cleft 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

msh homeobox 1

ClinVar Annotator: match by term: Orofacial cleft 5

PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 More...

NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006

orofacial cleft 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to

PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:15317890 More...

NCBI chr25:19,648,131...19,665,722

orofacial cleft 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nectin cell adhesion molecule 1

ClinVar Annotator: match by term: Orofacial cleft 7

PMID:10932188 PMID:11559849 PMID:32554531

NCBI chr 1:111,046,310...111,116,906
Ensembl chr 1:111,046,333...111,116,698

orofacial cleft 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p63

ClinVar Annotator: match by term: Orofacial cleft 8

PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More...

NCBI chr15:83,861,489...84,126,675

otospondylomegaepiphyseal dysplasia, autosomal dominant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia

PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 More...

NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625

G

collagen type II alpha 1 chain

ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

Periapical Diseases

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine receptor 2

NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728

G

fractalkine

NCBI chr 5:43,310,711...43,323,533
Ensembl chr 5:43,310,753...43,323,529

G

platelet derived growth factor subunit B

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

G

TNF receptor superfamily member 11b

NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936

periapical granuloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 7

protein:increased expression:periodontal ligament

NCBI chr16:27,777,795...27,780,413

G

C-C motif chemokine receptor 2

mRNA:increased expression:gingiva:

NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728

G

C-C motif chemokine receptor 3

NCBI chr22:7,648,410...7,698,523
Ensembl chr22:7,697,068...7,698,135

periapical periodontitis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-C motif chemokine ligand 7

disease_progression

protein:increased expression:periodontal ligament

NCBI chr16:27,777,795...27,780,413

G

C-C motif chemokine receptor 2

NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728

G

class II major histocompatibility complex transactivator

NCBI chr 5:10,341,690...10,401,988
Ensembl chr 5:10,372,344...10,400,451

G

fibroblast growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:70,089,394...70,157,423

G

interleukin 17A

protein:increased expression:Periapical Tissue

NCBI chr17:20,314,082...20,319,917
Ensembl chr17:20,315,773...20,318,785

G

C-X-C chemokine receptor type 2

NCBI chr10:104,012,906...104,025,599
Ensembl chr10:104,022,811...104,023,893

G

TNF receptor superfamily member 11b

treatment

Lactobacillus acidophilus

NCBI chr 8:113,520,711...113,549,370
Ensembl chr 8:113,520,596...113,548,936

Periodontal Cyst

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 2

mRNA:increased expression:gingiva:

NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416

G

C-C motif chemokine receptor 2

mRNA:increased expression:gingiva:

NCBI chr22:7,795,192...7,801,242
Ensembl chr22:7,798,646...7,799,728

Periventricular Nodular Heterotopia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NEDD4 like E3 ubiquitin protein ligase

ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay

PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More...

NCBI chr18:21,326,276...21,683,817
Ensembl chr18:21,327,567...21,683,905

Peters plus syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta 3-glucosyltransferase

ClinVar Annotator: match by term: Peters plus syndrome

PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More...

NCBI chr 3:10,058,041...10,178,996
Ensembl chr 3:10,059,196...10,179,037

G

fibroblast growth factor 8

ClinVar Annotator: match by term: Peters plus syndrome

PMID:25741868 PMID:28492532 PMID:29584859

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

popliteal pterygium syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon regulatory factor 6

ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome

PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 More...

NCBI chr25:19,648,131...19,665,722

G

receptor interacting serine/threonine kinase 4

ClinVar Annotator: match by term: Popliteal pterygium syndrome

NCBI chr 2:85,627,307...85,654,079
Ensembl chr 2:85,627,073...85,653,927

postaxial acrofacial dysostosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydroorotate dehydrogenase (quinone)

ClinVar Annotator: match by term: DHODH-related condition | ClinVar Annotator: match by term: Miller syndrome

PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More...

NCBI chr 5:55,161,788...55,177,383
Ensembl chr 5:55,161,916...55,180,896

Prognathism

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type II alpha 1 chain

susceptibility

DNA:SNP: : rs1793953(human)

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

Radicular Cyst

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position