Cleft Palate, Isolated disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CPI MCID: CLF027 MIFTS: 63	Cleft Palate, Isolated (CPI) Categories: Ear diseases, Fetal diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Cleft Palate, Isolated

MalaCards integrated aliases for Cleft Palate, Isolated:

Name: Cleft Palate, Isolated ⁵⁷ ³⁸ ⁷¹

Cleft Palate ⁵⁷ ¹¹ ⁵⁸ ⁷⁵ ²⁸ ⁵³ ⁵ ⁴³ ¹⁴ ⁷¹ ³¹ ³³

Isolated Cleft Palate ¹¹ ²⁸ ⁵ ¹⁴

Palatoschisis ¹¹ ³³

Cpi ⁵⁷ ⁷³

Cp ⁵⁷ ⁷³

Congenital Fissure of Palate ³³

Cleft of Secondary Palate ³³

Cleft Palate Isolated ⁷³

Uranostaphyloschisis ⁷¹

Characteristics:

Inheritance:

Cleft Palate, Isolated: Autosomal dominant ⁵⁷

Cleft Palate: Multigenic/multifactorial ⁵⁸

Prevelance:

Cleft Palate: 1-5/10000 (Europe, Europe, Austria, Austria, Belgium, Belgium, Croatia, Croatia, France, France, Germany, Germany, Ireland, Ireland, Italy, Italy, Netherlands, Netherlands, Poland, Poland, Portugal, Portugal, Spain, Spain, Switzerland, Switzerland, Ukraine, Ukraine, Chile, Sudan, Iran, Islamic Republic of, Mexico, Taiwan, Province of China) >1/1000 (Denmark, Denmark, Australia) 6-9/10000 (Hungary, Hungary, Malta, Malta, Norway, Norway, United Kingdom, United Kingdom, Specific population, Specific population) 1-9/100000 (Bolivia) ⁵⁸

Age Of Onset:

Cleft Palate: Antenatal,Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Oral diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Cleft lip and cleft palate

Cleft palate

Cleft hard palate

Cleft hard palate with cleft soft palate

Cleft palate, unspecified

Cleft soft palate

Cleft uvula

Cleft palate with cleft lip

Unspecified cleft palate with bilateral cleft lip

Unspecified cleft palate with unilateral cleft lip

ICD11: ³³

Developmental anomalies

Structural developmental anomalies primarily affecting one body system

Structural developmental anomalies of the face, mouth or teeth

Clefts of lip, alveolus or palate

Cleft palate

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:0110213 DOID:674

OMIM® ⁵⁷ 119540

ICD9CM ³⁴ 749.0

MeSH ⁴³ D002972

NCIt ⁴⁹ C87069

SNOMED-CT ⁶⁸ 156940009

ICD10 ³¹ Q35 Q35.1 Q35.3 more

MESH via Orphanet ⁴⁴ D002972

ICD10 via Orphanet ³² Q35.1 Q35.3 Q35.5 more

UMLS via Orphanet ⁷² C0008925

Orphanet ⁵⁸ ORPHA2014

MedGen ⁴⁰ C0008925 C1837218 C1970095

SNOMED-CT via HPO ⁶⁹ 10816007 128613002 246545002 more

ICD11 ³³ 2129534948

UMLS ⁷¹ C0008925 C1837218 C2981150

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Summaries for Cleft Palate, Isolated

OMIM®: ⁵⁷ Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570. (119540) (Updated 08-Dec-2022)

MalaCards based summary: Cleft Palate, Isolated, also known as cleft palate, is related to cleft lip and cleft soft palate, and has symptoms including seizures An important gene associated with Cleft Palate, Isolated is GRHL3 (Grainyhead Like Transcription Factor 3). The drugs Cathine and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and bone marrow, and related phenotypes are seizure and gingival overgrowth

Disease Ontology ¹¹ Isolated cleft palate: A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate.

Cleft palate: An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.

UniProtKB/Swiss-Prot: ⁷³ A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, intellectual disability, and osteoporosis.

Orphanet: ⁵⁸ A fissure type embryopathy that affects the soft and hard palate to varying degrees.

Wikipedia: ⁷⁵ A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on... more...

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Related Diseases for Cleft Palate, Isolated

Diseases related to Cleft Palate, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1129)

#	Related Disease	Score	Top Affiliating Genes
1	cleft lip	33.4	SETD5 IRF6 GRHL3
2	cleft soft palate	32.8	IRF6 GRHL3 COL11A1
3	glass syndrome	32.7	SATB2 NIPBL IRF6
4	orofacial cleft	32.7	SATB2 NIPBL IRF6 GRHL3 FLNA COL11A1
5	kabuki syndrome 1	32.6	SMARCA4 NSD1 IRF6
6	ankyloblepharon-ectodermal defects-cleft lip/palate	32.6	IRF6 GRHL3
7	van der woude syndrome 1	32.5	IRF6 GRHL3
8	hyperphosphatasia-intellectual disability syndrome	32.2	PIGW PGAP3
9	cornelia de lange syndrome 2	32.2	SATB2 NIPBL
10	uvula, bifid	32.1	NSD1 GRHL3
11	microcephaly	31.8	SATB2 RAB3GAP1 PGAP3 NSD1 NIPBL INPP5E
12	atrial heart septal defect	31.3	SMARCA4 NSD1 NIPBL FLNA
13	macroglossia	31.3	NSD1 COL11A1
14	strabismus	31.2	TMCO1 GNB1 COL11A1 CHN1
15	cornelia de lange syndrome 1	31.0	WFS1 NSD1 NIPBL
16	duane retraction syndrome 1	31.0	WFS1 CHN1
17	diaphragmatic hernia, congenital	30.9	PIGW PGAP3 NIPBL
18	polymicrogyria	30.9	SETD5 RAB3GAP1 FLNA
19	talipes equinovarus	30.8	IRF6 INPP5E
20	patent ductus arteriosus 1	30.7	SMARCA4 NSD1 INPP5E FLNA
21	west syndrome	30.7	SETD5 PIGW GNB1 FLNA
22	chromosome 16p13.3 deletion syndrome, proximal	30.6	SMARCA4 NSD1 NIPBL
23	cryptorchidism, unilateral or bilateral	30.6	TMCO1 RAB3GAP1 NSD1 NIPBL
24	cleft palate with or without ankyloglossia, x-linked	11.8
25	syngnathia	11.7
26	cleft lip with or without cleft palate	11.7
27	hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate	11.7
28	microtia, hearing impairment, and cleft palate	11.7
29	arthrogryposis, distal, type 3	11.7
30	pierre robin syndrome	11.7
31	omphalocele-cleft palate syndrome, lethal	11.6
32	mandibulofacial dysostosis, guion-almeida type	11.6
33	cleft lip/palate	11.6
34	schilbach-rott syndrome	11.6
35	say syndrome	11.6
36	abruzzo-erickson syndrome	11.6
37	cleft palate short stature vertebral anomalies	11.6
38	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	11.6
39	cleft palate, proliferative retinopathy, and developmental delay	11.6
40	orofacial cleft 11	11.6
41	cleft palate, psychomotor retardation, and distinctive facial features	11.5
42	myopathy, congenital, bailey-bloch	11.5
43	orofacial cleft 6	11.5
44	aase-smith syndrome i	11.5
45	macrosomia with microphthalmia, lethal	11.5
46	dysmorphism cleft palate loose skin	11.5
47	parc syndrome	11.5
48	orofacial cleft 5	11.5
49	roberts-sc phocomelia syndrome	11.5
50	hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation	11.5

Graphical network of the top 20 diseases related to Cleft Palate, Isolated:

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Symptoms & Phenotypes for Cleft Palate, Isolated

Human phenotypes related to Cleft Palate, Isolated:

³⁰ (show all 7)

#	Description	HPO Source Accession
1	seizure ³⁰	HP:0001250
2	gingival overgrowth ³⁰	HP:0000212
3	cleft palate ³⁰	HP:0000175
4	micrognathia ³⁰	HP:0000347
5	intellectual disability, profound ³⁰	HP:0002187
6	anterior open-bite malocclusion ³⁰	HP:0009102
7	increased overbite ³⁰	HP:0011094

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Mouth:
cleft palate, isolated

Clinical features from OMIM®:

119540 (Updated 08-Dec-2022)

UMLS symptoms related to Cleft Palate, Isolated:

seizures

MGI Mouse Phenotypes related to Cleft Palate, Isolated:

⁴⁵ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.41	AMER1 CHN1 COL11A1 FLNA GNB1 GRHL3
2	nervous system	MP:0003631	10.29	CHN1 COL11A1 FLNA GNB1 GRHL3 INPP5E
3	craniofacial	MP:0005382	10.22	AMER1 COL11A1 FLNA GNB1 GRHL3 INPP5E
4	limbs/digits/tail	MP:0005371	10.19	AMER1 COL11A1 GRHL3 INPP5E IRF6 NIPBL
5	cellular	MP:0005384	10.18	AMER1 CHN1 FLNA GNB1 GRHL3 INPP5E
6	embryo	MP:0005380	10.16	AMER1 GNB1 GRHL3 INPP5E IRF6 NIPBL
7	digestive/alimentary	MP:0005381	10.13	COL11A1 FLNA GRHL3 INPP5E IRF6 LRRC32
8	behavior/neurological	MP:0005386	10.1	CHN1 FLNA GNB1 GRHL3 LRRC32 NIPBL
9	immune system	MP:0005387	10	AMER1 COL11A1 FLNA GRHL3 LRRC32 NIPBL
10	skeleton	MP:0005390	9.93	AMER1 COL11A1 FLNA GNB1 GRHL3 INPP5E
11	vision/eye	MP:0005391	9.61	CHN1 FLNA GNB1 GRHL3 INPP5E NIPBL
12	mortality/aging	MP:0010768	9.55	AMER1 CHN1 COL11A1 FLNA GNB1 GRHL3

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Drugs & Therapeutics for Cleft Palate, Isolated

Drugs for Cleft Palate, Isolated (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cathine

Approved, Experimental, Illicit, Vet_approved, Withdrawn

Phase 4

14838-15-4, 492-39-7

131954576 4786 26934

Guaifenesin

Approved, Investigational, Vet_approved

Phase 4

93-14-1

3516

Codeine

Approved, Illicit

Phase 4

76-57-3, 6854-40-6

5284371 5362471

Tranexamic acid

Approved

Phase 4

1197-18-8

5526

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Respiratory System Agents

Phase 4

Antitussive Agents

Phase 4

Chlorpheniramine, phenylpropanolamine drug combination

Phase 4

Antifibrinolytic Agents

Phase 4

Anesthetics, Local

Phase 4

Anesthetics

Phase 4

Analgesics, Opioid

Phase 4

Pharmaceutical Solutions

Phase 4

Levobupivacaine

Approved, Investigational

Phase 2, Phase 3

27262-47-1

92253

Levoleucovorin

Approved, Experimental, Investigational

Phase 3

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Nalbuphine

Approved

Phase 3

20594-83-6

5311304

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Folate

Phase 3

Vitamin B9

Phase 3

Trace Elements

Phase 3

Vitamin B Complex

Phase 3

Hematinics

Phase 3

Micronutrients

Phase 3

Narcotics

Phase 3

Acetylcholine

Approved, Investigational

Phase 1, Phase 2

51-84-3

187

Ampicillin

Approved, Vet_approved

Phase 2

69-53-4

6249

Sulbactam

Approved

Phase 2

68373-14-8

5316

Benzocaine

Approved, Investigational

Phase 1, Phase 2

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 1, Phase 2

1401-55-4

16129878 16129778

Simvastatin

Approved

Phase 2

79902-63-9

54454

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 2

67-97-0, 1406-16-2

5280795 10883523

Antibiotics, Antitubercular

Phase 2

Anti-Bacterial Agents

Phase 2

Anti-Infective Agents

Phase 2

abobotulinumtoxinA

Phase 1, Phase 2

Botulinum Toxins, Type A

Phase 1, Phase 2

Botulinum Toxins

Phase 1, Phase 2

Cholinergic Agents

Phase 1, Phase 2

beta-Lactamase Inhibitors

Phase 2

Antimetabolites

Phase 2

Hypolipidemic Agents

Phase 2

Anticholesteremic Agents

Phase 2

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 2

Lipid Regulating Agents

Phase 2

Vitamins

Phase 2

Calciferol

Phase 2

Antioxidants

Phase 2

Protective Agents

Phase 2

Gastrointestinal Agents

Phase 1, Phase 2

7-dehydrocholesterol

Phase 1, Phase 2

434-16-2

439423

Interventional clinical trials:

(show top 50) (show all 106)

#	Name	Status	NCT ID	Phase	Drugs
1	Double Blind Randomized Study Into the Efficacy of Codeine Phosphate Analgesia After Cleft Palate Repair in Infants	Completed	NCT00386269	Phase 4	Codeine Phosphate Analgesia
2	Acid Tranexamic Effectiveness in Reducing the Intraoperative Bleeding in Palatoplasty : Randomized Study	Completed	NCT02422056	Phase 4	Tranexamic Acid;Saline
3	The Impact of Adding Ultrasound Guided Bilateral Suprazygomatic Maxillary Nerve Block to General Anesthesia on Systemic Inflammatory Response in Cleft Palate Surgeries ; A Randomized Control Trial	Recruiting	NCT05495750	Phase 4	Bupivacaine 0.25% Injectable Solution
4	The Use of Fibrin Sealant to Reduce Post Operative Pain in Cleft Palate Surgery	Withdrawn	NCT02953145	Phase 4	Tisseel
5	A Randomized, Double-Blinded, Placebo Controlled Trial Using Single Dose Dexmedetomidine In The Treatment Of Pain In Patients Undergoing Cleft Palate Repair	Withdrawn	NCT02915042	Phase 4	Dexmedetomidine;Placebo
6	Comparative Study Between Levobupivacaine and Bupivacaine for Nerve Block During Pediatric Primary Cleft Palate Surgery	Completed	NCT02923869	Phase 2, Phase 3	Levobupivacaine;Bupivacaine
7	Oral Cleft Prevention Program	Completed	NCT00397917	Phase 3	Folic acid: 4 mg versus 0.4 mg per day
8	Oral Cleft Prevention Trial in Brazil	Completed	NCT00098319	Phase 3	Folic acid (0.4mg vs. 4.0mg)
9	Optic Nerve Sheath Diameter (ONSD): A New Modality to Assess Postoperative Agitation After a Single Bolus of Dexmedetomidine Versus Nalbuphine in Children With Cleft Palate Repair	Recruiting	NCT04928391	Phase 3	Dexmedetomidine;Nalbuphine
10	Preemptive Nebulized Bupivacaine for Pain Control After Cleft Palate Repair in Children: A Randomized Double Blind Controlled Trial	Recruiting	NCT04928352	Phase 3	Bupivacaine Hydrochloride
11	The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome	Unknown status	NCT00004347	Phase 2
12	Distraction Versus Orthognathic Surgery - Which One is Better for Cleft Palate Patients	Completed	NCT00930124	Phase 2
13	Evaluation of Postoperative Analgesic Effects of Bilateral Suprazygomatic Maxillary Nerve Block Using Bupivacaine and Dexmedetomidine in Children Undergoing Cleft Palate Repair Under General Anesthesia:Randomized Controlled Trial	Completed	NCT03412474	Phase 2	Bupivacaine;Dexmedetomidine;paracetamol
14	Botulinum Toxin to Improve Cosmesis of Primary Cleft Lip Repair	Completed	NCT02247193	Phase 1, Phase 2	Botulinum Toxin Type A;Normal Saline Injection
15	Efficacy of Preoperative Prophylactic Antibiotics in Preventing Complications in the Primary Repair of Cleft Palates	Completed	NCT00760006	Phase 2	Unasyn
16	Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome	Completed	NCT00272844	Phase 1, Phase 2	crystalline cholesterol oil-based suspension
17	Velopharyngeal Function for Speech After Palatal Surgery	Completed	NCT00004639	Phase 2
18	Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome	Completed	NCT00114634	Phase 2
19	Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome	Completed	NCT00064792	Phase 2	Simvastatin Susp.;OraPlus
20	Cell Therapy for Craniofacial Bone Defects	Completed	NCT01616953	Phase 1, Phase 2
21	Dose Use of Rigid Fixation After Removing the Distraction Device Reduce the Anterior-posterior Relapse or Not?	Completed	NCT02350803	Phase 2
22	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)	Recruiting	NCT01773278	Phase 2	Antioxidants;Cholesterol
23	Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation	Active, not recruiting	NCT03720990	Phase 1, Phase 2	Cholic Acid
24	A Prospective, Double-Blinded, Randomized Comparison of Intravenous Acetaminophen Versus Placebo in Children Undergoing Palatoplasty	Withdrawn	NCT01760330	Phase 2	IV acetaminophen;Placebo
25	Ketodex Versus Opioid Based Anaesthesia in Cleft Palate Repair	Recruiting	NCT05402189	Phase 1	Ketodex, Fentanyl
26	Evaluation of Postoperative Analgesic Effects of Infraorbital Nerve Block by Levobupivacaine vs Ropivacaine After Cleft Palate Surgery: A Double-blinded Randomized Trial	Unknown status	NCT04212611		INFRA ORBITAL BLOCK
27	Role of a Written Summary on Risk Recall During Consent Process for Cleft Palate Repair	Unknown status	NCT02595307
28	Comparative Study of Bilateral Suprazygomatic Maxillary Nerve Block and Surgical Site Infiltration for Perioperative Analgesia in Children Undergoing Cleft Palate Repair	Unknown status	NCT03799068
29	The Effect of Adjunctive Use of Low Level Laser (LLL) After Surgical Correction of Isolated Cleft Palate Versus Surgical Correction Without LLL in Healing Process	Unknown status	NCT03688737
30	Evaluation of the Incidence of Palatal Fistula in Furlow Double-opposing Z-plasty vs. Two-flap Palatoplasty for Cleft Palate Repair	Unknown status	NCT03055637
31	Evaluation of Bone-borne Palatal Expander in Conjunction With Maxillary Osteotomy in the Treatment of Cleft Palate Patients	Unknown status	NCT03837652
32	Analgesic Contribution of the Suprazygomatic Maxillary Nerve Block for Cleft Palate Surgery in Children	Unknown status	NCT04023825		suprazygomatic maxillary nerve block
33	Comparing Two Peripheral Nerve Block Techniques for Perioperative Analgesia During Cleft Palate Surgery in Pediatric Patients: Randomized Controlled Trial	Unknown status	NCT04467463
34	Validation of a Production Method of Stem Cell Isolated From the Nasal Cavity for an Innovative Cell Therapy of Cleft Palate	Unknown status	NCT02900014
35	Assessment of Intellectual Abilities for Subjects With Velopharyngeal Incompetence and Their Impact on Speech Intelligibility	Unknown status	NCT03898713
36	Three-dimensional Development of the Palate in Bilateral Orofacial Cleft Newborns One Year After Early Neonatal Cheiloplasty: Classic and Geometric Morphometric Evaluation	Unknown status	NCT03839290
37	An Analysis of the Clinical Applicability of a Three-Dimensional Imaging Platform Used to Register the Influence of Orthognathic Surgery on Facial Hard and Soft Tissue in Patients With Congenital Maxillofacial Deformities.	Unknown status	NCT00285714
38	Partial Adenoidectomy in Cases of Velopharyngeal Dysfunction	Unknown status	NCT03469973
39	Device Assisted Exercises for Improving Soft Palate and Eustachian Tube Function in Children Between Ages 6-17 With or Without Cleft Palate and With Ventilation Tubes	Completed	NCT03868891
40	Postoperative Complications After Cleft Palate Closure in Patients With Pierre Robin Sequence: Operative Considerations	Completed	NCT02658318
41	Educational Impact and Development of a Novel Cleft Palate Surgical Simulator: Improvement in Surgical Trainees' Knowledge and Confidence.	Completed	NCT04489680
42	The Possible Effect of Modified Restoration of Tensor Veli Palatini on Audiological and Otological Outcome in Cleft Palate Repair.	Completed	NCT04366674
43	Auditory Profile and Language Development in Children Operated for Cleft Palate	Completed	NCT04367961
44	The Effect of the Usage of Squeezable vs Standard Bottles on the Feeding Process of Infants With Cleft Lip and Palate (CLP) After Cleft Palate Surgery	Completed	NCT05062798
45	Otologic and Rhinologic Outcomes in Children With Cleft Palate at Age 10 Years	Completed	NCT03708406
46	Palatal Lengthening Using Buccinator Myomucosal Flaps With Furlow Z-plasty Technique for Primary Cleft Palate Repair (A Clinical Study)	Completed	NCT04346173
47	Evaluation of the Effect of Boyle-Davis Mouth Gape on Intracranial Pressure in Patients With Cleft Palate Repair by Measuring Optic Nerve Sheath Diameter	Completed	NCT04718558
48	Improving Outcomes in Cleft Palate Surgery Through an Audit and Feedback Intervention Directed at Surgeons	Completed	NCT02583100
49	Middle Ear Pressure Disregulation in Cleft Palate Patients: Form-Function Correlates	Completed	NCT00423072
50	Microscopic Surgical Repair of Cleft Palate With Inravelar Veloplasty	Completed	NCT05196555

Search NIH Clinical Center for Cleft Palate, Isolated

Cochrane evidence based reviews: cleft palate

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Genetic Tests for Cleft Palate, Isolated

Genetic tests related to Cleft Palate, Isolated:

#	Genetic test	Affiliating Genes
1	Isolated Cleft Palate ²⁸
2	Cleft Palate ²⁸

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Anatomical Context for Cleft Palate, Isolated

Organs/tissues related to Cleft Palate, Isolated:

MalaCards : Bone, Tongue, Bone Marrow, Heart, Pituitary, Olfactory Bulb, Brain

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Publications for Cleft Palate, Isolated

Articles related to Cleft Palate, Isolated:

(show top 50) (show all 13025)

#	Title	Authors	PMID	Year
1	Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate--a Danish Registry study. ⁵³ ⁶² ⁵⁷	Christensen K...Mitchell LE	8554055	1996
2	Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. ⁵³ ⁶² ⁵⁷	Hwang SJ...Francomano CA	7702037	1995
3	Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). ⁵³ ⁶² ⁵⁷	Shiang R...Murray JC	8105683	1993
4	Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. ⁶² ⁵	Mangold E...Ludwig KU	27018475	2016
5	Selection bias in genetic-epidemiological studies of cleft lip and palate. ⁶² ⁵⁷	Christensen K...Fogh-Andersen P	1496993	1992
6	Segregation of HLA in families with oral clefts: evidence against linkage between isolated cleft palate and HLA. ⁶² ⁵⁷	Van Dyke DC...Zmijewski CM	6859128	1983
7	A family study of isolated cleft palate. ⁶² ⁵⁷	Carter CO...Roberts MF	7143384	1982
8	Cleft palate: a genetic and epidemiologic investigation. ⁶² ⁵⁷	Shields ED...Fogh-Andersen P	7296943	1981
9	Dominant inheritance of cleft of the soft palate. ⁶² ⁵⁷	Jenkins M...Stady C	7372339	1980
10	Facial clefts in Danish twins. ⁶² ⁵⁷	Shields ED...Fogh-Andersen P	282023	1979
11	MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. ⁵⁷	van den Boogaard MJ...van Amstel HK	10742093	2000
12	Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. ⁵³ ⁶²	Thomason HA...Dixon J	20424327	2010
13	p63 and IRF6: brothers in arms against cleft palate. ⁵³ ⁶²	Gritli-Linde A	20424318	2010
14	MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. ⁵³ ⁶²	Zhu J...Li Z	20082468	2010
15	Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. ⁵³ ⁶²	Muramatsu Y...Fukushima Y	20101701	2010
16	Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility. ⁵³ ⁶²	Jianyan L...Rongsheng L	19914800	2010
17	Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. ⁵³ ⁶²	Jia ZL...Shi B	19891592	2010
18	IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. ⁵³ ⁶²	Birnbaum S...Mangold E	20121942	2009
19	Czech dysplasia occurring in a Japanese family. ⁵³ ⁶²	Matsui Y...Nishimura G	19764028	2009
20	Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. ⁵³ ⁶²	Sull JW...Beaty TH	19444471	2009
21	Cleft palate in Pfeiffer syndrome. ⁵³ ⁶²	Stoler JM...Rogers GF	19816260	2009
22	Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. ⁵³ ⁶²	Tran-Fadulu V...Milewicz DM	19542084	2009
23	Tbx22 expressions during palatal development in fetuses with glucocorticoid-/alcohol-induced C57BL/6N cleft palates. ⁵³ ⁶²	Kim SM...Choi JY	19816249	2009
24	The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. ⁵³ ⁶²	Diercks GR...Haddad J	19536891	2009
25	Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population. ⁵³ ⁶²	Wan WD...Lu ZH	19727229	2009
26	[No association of the A2756G polymorphism of methionine synthase gene with nonsyndromic cleft lip with or without cleft palate]. ⁵³ ⁶²	Guo JZ...Li Y	19504454	2009
27	Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. ⁵³ ⁶²	Jia ZL...Shi B	19388848	2009
28	Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. ⁵³ ⁶²	Birnbaum S...Mangold E	19320731	2009
29	Association of bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in Chinese children. ⁵³ ⁶²	Lin JY...Luan RS	18771417	2008
30	Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate or cleft palate only in Kelantan, Malaysia. ⁵³ ⁶²	Rahman RA...Samsudin AR	18956930	2008
31	Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations. ⁵³ ⁶²	Sull JW...Beaty TH	18688869	2008
32	Czech dysplasia: report of a large family and further delineation of the phenotype. ⁵³ ⁶²	Tzschach A...Graul-Neumann LM	18553548	2008
33	Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate. ⁵³ ⁶²	Tongkobpetch S...Shotelersuk V	18356023	2008
34	Confirmation of the role of N-acetyltransferase 2 in teratogen-induced cleft palate using transgenics and knockouts. ⁵³ ⁶²	Erickson RP...McQueen CA	18161794	2008
35	[Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. ⁵³ ⁶²	Zhang L...Liang SZ	18705505	2008
36	Association of the GABRB3 gene with nonsyndromic oral clefts. ⁵³ ⁶²	Inoue H...Suzuki Y	18452349	2008
37	TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. ⁵³ ⁶²	Suphapeetiporn K...Shotelersuk V	17868388	2007
38	Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. ⁵³ ⁶²	Jakobsen LP...Tumer Z	17551083	2007
39	[Association of transforming growth factor-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate in Han nationality]. ⁵³ ⁶²	Yuan KF...Qin YF	17629209	2007
40	Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. ⁵³ ⁶²	Verkleij-Hagoort A...Steegers-Theunissen R	17431894	2007
41	Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. ⁵³ ⁶²	Park JW...Beaty TH	17438386	2007
42	In vitro manipulation of cleft palate connective tissue: setting the bases of a proposed new treatment. ⁵³ ⁶²	Resel E...Martinez-Alvarez C	17173932	2007
43	[Association between retinoic acid receptor alpha gene polymorphisms and nonsyndromic cleft lip with or without cleft palate susceptibility]. ⁵³ ⁶²	Fan GZ...Wu PA	17456381	2007
44	Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. ⁵³ ⁶²	Chevrier C...Cordier S	17219389	2007
45	[Relationship between transforming growth factor-alpha gene polymorphism and non-syndromic cleft lip with cleft palate]. ⁵³ ⁶²	Yuan KF...Zhou XH	17334078	2006
46	[Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate]. ⁵³ ⁶²	Zhu JH...Li Z	17313741	2006
47	A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. ⁵³ ⁶²	Baris I...Battaloglu E	16882747	2006
48	Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. ⁵³ ⁶²	Pitteloud N...Crowley WF	16764984	2006
49	A mutation of the p63 gene in non-syndromic cleft lip. ⁵³ ⁶²	Leoyklang P...Shotelersuk V	16740912	2006
50	Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. ⁵³ ⁶²	Scapoli L...Carinci F	16674562	2006

Sources

Genes for Cleft Palate, Isolated

Genes/enhancers related to Cleft Palate, Isolated (15 elite genes):

(show top 50) (show all 206)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GRHL3	Grainyhead Like Transcription Factor 3	Protein Coding	438.29	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴	27018475
2	TMCO1	Transmembrane And Coiled-Coil Domains 1	Protein Coding	428.25	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
3	IRF6	Interferon Regulatory Factor 6	Protein Coding	427.13	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	19536891 15558496 20424318 (more) 12920575 17438386 16132054 20424327 15317890 19388848 20121942
3	IRF6::GH01J209814	TSS distance: -9.9kb Elite enhancer with elite association with IRF6			Curated enhancer-disease association ²³ ¹³	18836445
4	SATB2	SATB Homeobox 2	Protein Coding	421.26	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)
5	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	406	Pathogenic ⁵ DISEASES inferred ¹⁴
6	FLNA	Filamin A	Protein Coding	405.62	Pathogenic ⁵ DISEASES inferred ¹⁴
7	PGAP3	Post-GPI Attachment To Proteins Phospholipase 3	Protein Coding	405.1	Pathogenic ⁵ DISEASES inferred ¹⁴
8	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	404.55	Pathogenic ⁵ DISEASES inferred ¹⁴
9	NSD1	Nuclear Receptor Binding SET Domain Protein 1	Protein Coding	404.15	Pathogenic ⁵ DISEASES inferred ¹⁴
10	RAB3GAP1	RAB3 GTPase Activating Protein Catalytic Subunit 1	Protein Coding	403.29	Pathogenic ⁵ DISEASES inferred ¹⁴
11	INPP5E	Inositol Polyphosphate-5-Phosphatase E	Protein Coding	402.97	Pathogenic ⁵ DISEASES inferred ¹⁴
12	GNB1	G Protein Subunit Beta 1	Protein Coding	400	Pathogenic ⁵
13	SETD5	SET Domain Containing 5	Protein Coding	400	Pathogenic ⁵
14	SHANK1	SH3 And Multiple Ankyrin Repeat Domains 1	Protein Coding	400	Pathogenic ⁵
15	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	400	Pathogenic ⁵
16	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	41.26	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12673280
17	LRRC32	Leucine Rich Repeat Containing 32	Protein Coding	32.75	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
18	PIGW	Phosphatidylinositol Glycan Anchor Biosynthesis Class W	Protein Coding	29.61	Likely pathogenic ⁵ DISEASES inferred ¹⁴
19	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	29.03	Likely pathogenic ⁵ DISEASES inferred ¹⁴
20	CHN1	Chimerin 1	Protein Coding	28.58	Likely pathogenic ⁵ DISEASES inferred ¹⁴
21	NFIA	Nuclear Factor I A	Protein Coding	28.51	Likely pathogenic ⁵ DISEASES inferred ¹⁴
22	TBX22	T-Box Transcription Factor 22	Protein Coding	25.42	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12412015 19816249 17868388
23	FGF14	Fibroblast Growth Factor 14	Protein Coding	25	Likely pathogenic ⁵
24	MYO19	Myosin XIX	Protein Coding	25	Likely pathogenic ⁵
25	MSX1	Msh Homeobox 1	Protein Coding	24.86	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12163415 9830770 15379328 (more) 18705505 15965987 16868654
26	FOXE1	Forkhead Box E1	Protein Coding	23.01	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12165566 15320969 9697705 (more) 10403172 14611701 12203737 16882747
26	FOXE1::GH09J097786	TSS distance: -66.4kb Elite enhancer with elite association with FOXE1			Curated enhancer-disease association ²³ ¹³	25652407
27	TCOF1	Treacle Ribosome Biogenesis Factor 1	Protein Coding	21.75	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	18688869 8488840 8281138
28	TGFB3	Transforming Growth Factor Beta 3	Protein Coding	21.75	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	10433915 15668235 16245336 (more) 14653390 15965987 10598907 14659070
29	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	20.15	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	16674562 18356023
30	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	19.88	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	18553548 19764028 11877774 (more) 12673280
31	TGFA	Transforming Growth Factor Alpha	Protein Coding	19.52	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	15449618 8105683 17334078 (more) 10552925 1361101 7977355 9181353 18956930 17629209 7834275 14639706 16311697 15643916 17313741 16792897 8554055 19444471 15965987 10319864 10918043 8096116 15222785 9676424 10598907 7702037 20082468 9003904 9265696
32	BMP4	Bone Morphogenetic Protein 4	Protein Coding	17.93	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	19914800 12163415 18771417
33	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	17.54	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	20082468 15054400 10377018 (more) 10440833 10533038 15221800 12672677 9843036 17219389 17431894
34	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	17.1	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	15001591 16764984 16418210 (more) 19727229
35	TP63	Tumor Protein P63	Protein Coding	17.08	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	20424318 20424327 11462173 (more) 16740912 15748593
36	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	17.05	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	8651276 19816260
37	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	16.48	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	18452349 8389469
38	H2AC18	H2A Clustered Histone 18	Protein Coding	16.06	DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴
39	RARA	Retinoic Acid Receptor Alpha	Protein Coding	15.94	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	16311697 17456381 12835288 (more) 15965987 8213839
40	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	15.78	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12673280
41	SOX9	SRY-Box Transcription Factor 9	Protein Coding	15.41	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	17551083
42	FOXC2	Forkhead Box C2	Protein Coding	15.38	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12485195
43	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	15.3	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	19542084 20101701
44	OSR2	Odd-Skipped Related Transciption Factor 2	Protein Coding	13.84	DISEASES inferred ¹⁴ ¹⁴
45	MIR140	MicroRNA 140	RNA Gene	13.81	DISEASES inferred ¹⁴ ¹⁴ ¹⁴
46	VAX1	Ventral Anterior Homeobox 1	Protein Coding	13.74	DISEASES inferred ¹⁴ ¹⁴
47	PAX9	Paired Box 9	Protein Coding	13.61	DISEASES inferred ¹⁴ ¹⁴
48	LHX8	LIM Homeobox 8	Protein Coding	12.72	DISEASES inferred ¹⁴ ¹⁴
49	FGF8	Fibroblast Growth Factor 8	Protein Coding	12.71	DISEASES inferred ¹⁴ ¹⁴
50	ARHGAP29	Rho GTPase Activating Protein 29	Protein Coding	12.45	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Cleft Palate, Isolated

ClinVar genetic disease variations for Cleft Palate, Isolated:

⁵ (show all 50)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	IRF6	NM_006147.4(IRF6):c.16C>T (p.Arg6Cys)	SNV	Pathogenic	3417	rs28942094	GRCh37: 1:209974743-209974743 GRCh38: 1:209801398-209801398
2	SATB2	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	MICROSAT	Pathogenic	523423	rs1553544133	GRCh37: 2:200173568-200173569 GRCh38: 2:199308845-199308846
3	NIPBL	NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)	DEL	Pathogenic	523556	rs1554034812	GRCh37: 5:37059040-37059040 GRCh38: 5:37058938-37058938
4	AMER1	NM_152424.4(AMER1):c.1489del (p.Arg497fs)	DEL	Pathogenic	817301	rs1602067592	GRCh37: X:63411678-63411678 GRCh38: X:64191798-64191798
5	SHANK1	NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)	SNV	Pathogenic	1684507		GRCh37: 19:51192124-51192124 GRCh38: 19:50688867-50688867
6	SETD5	NM_001080517.3(SETD5):c.2168dup (p.Leu723fs)	DUP	Pathogenic	981664	rs2042262374	GRCh37: 3:9490133-9490134 GRCh38: 3:9448449-9448450
7	PGAP3	NM_033419.5(PGAP3):c.851A>G (p.His284Arg)	SNV	Pathogenic	599004	rs776720232	GRCh37: 17:37829352-37829352 GRCh38: 17:39673099-39673099
8	GNB1	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	SNV	Pathogenic	208722	rs752746786	GRCh37: 1:1737942-1737942 GRCh38: 1:1806503-1806503
9	TMCO1	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	SNV	Pathogenic	598963	rs765379963	GRCh37: 1:165712409-165712409 GRCh38: 1:165743172-165743172
10	WFS1	NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	SNV	Pathogenic	598973	rs771409809	GRCh37: 4:6303521-6303521 GRCh38: 4:6301794-6301794
11	FLNA	NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)	SNV	Pathogenic	11755	rs28935469	GRCh37: X:153596212-153596212 GRCh38: X:154367844-154367844
12	SATB2	NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)	SNV	Pathogenic	522269	rs1553547838	GRCh37: 2:200193432-200193432 GRCh38: 2:199328709-199328709
13	GRHL3	NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly)	SNV	Pathogenic	697696	rs34593559	GRCh37: 1:24664239-24664239 GRCh38: 1:24337749-24337749
14	GRHL3	NM_198173.3(GRHL3):c.1172G>A (p.Arg391His)	SNV	Pathogenic	1172586		GRCh37: 1:24668729-24668729 GRCh38: 1:24342239-24342239
15	INPP5E	NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	SNV	Pathogenic	400	rs121918130	GRCh37: 9:139327634-139327634 GRCh38: 9:136433182-136433182
16	NSD1	NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	SNV	Pathogenic	159315	rs587784105	GRCh37: 5:176662864-176662864 GRCh38: 5:177235863-177235863
17	SATB2	NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	SNV	Pathogenic	2519	rs137853127	GRCh37: 2:200213882-200213882 GRCh38: 2:199349159-199349159
18	RAB3GAP1	NM_012233.3(RAB3GAP1):c.151-5T>G	SNV	Pathogenic	996741	rs1690127143	GRCh37: 2:135848563-135848563 GRCh38: 2:135090993-135090993
19	GRHL3	NM_198173.3(GRHL3):c.1285+2del	DEL	Pathogenic	219246	rs886037770	GRCh37: 1:24669264-24669264 GRCh38: 1:24342774-24342774
20	GRHL3	NM_198173.3(GRHL3):c.916dup (p.Arg306fs)	DUP	Pathogenic	219245	rs886037769	GRCh37: 1:24664554-24664555 GRCh38: 1:24338064-24338065
21	GRHL3	NM_198173.3(GRHL3):c.840+1G>T	SNV	Pathogenic	219244	rs886037768	GRCh37: 1:24664280-24664280 GRCh38: 1:24337790-24337790
22	GRHL3	NM_198173.3(GRHL3):c.738C>T (p.Gly246=)	SNV	Pathogenic	219243	rs886037767	GRCh37: 1:24664177-24664177 GRCh38: 1:24337687-24337687
23	FGF14	NM_004115.4(FGF14):c.486dup (p.Arg163fs)	DUP	Likely Pathogenic	598976	rs1566823361	GRCh37: 13:102379082-102379083 GRCh38: 13:101726732-101726733
24	TMCO1	NM_019026.6(TMCO1):c.493_494del (p.Ala165fs)	DEL	Likely Pathogenic	598949	rs1558027212	GRCh37: 1:165697333-165697334 GRCh38: 1:165728096-165728097
25	GRHL3	NM_198173.3(GRHL3):c.22A>G (p.Arg8Gly)	SNV	Likely Pathogenic	1172584		GRCh37: 1:24657920-24657920 GRCh38: 1:24331430-24331430
26	GRHL3	NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)	SNV	Likely Pathogenic	1172585		GRCh37: 1:24657930-24657930 GRCh38: 1:24331440-24331440
27	MYO19, PIGW	NM_001346754.2(PIGW):c.617_620del (p.Val206fs)	DEL	Likely Pathogenic	377301	rs753385776	GRCh37: 17:34893565-34893568 GRCh38: 17:36537716-36537719
28	LRRC32	NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter)	SNV	Likely Pathogenic	545640	rs369867819	GRCh37: 11:76371007-76371007 GRCh38: 11:76659963-76659963
29	SMARCA4	NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)	SNV	Likely Pathogenic	212246		GRCh37: 19:11134270-11134270 GRCh38: 19:11023594-11023594
30	CHN1	NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	SNV	Likely Pathogenic	598971	rs1558939623	GRCh37: 2:175689207-175689207 GRCh38: 2:174824479-174824479
31	COL11A1	NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)	DEL	Likely Pathogenic	523552	rs1553200431	GRCh37: 1:103377736-103377753 GRCh38: 1:102912180-102912197
32	NFIA	NM_001134673.4(NFIA):c.905del (p.Gly302fs)	DEL	Likely Pathogenic	374230	rs1057518992	GRCh37: 1:61824904-61824904 GRCh38: 1:61359232-61359232
33	TBX22	NM_001109878.2(TBX22):c.448A>C (p.Lys150Gln)	SNV	Uncertain Significance	523404	rs1156605251	GRCh37: X:79279653-79279653 GRCh38: X:80024154-80024154
34	KIF1A	NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	SNV	Uncertain Significance	598972	rs1356639316	GRCh37: 2:241686664-241686664 GRCh38: 2:240747247-240747247
35	ARHGAP29	NM_004815.4(ARHGAP29):c.1865C>T (p.Thr622Met)	SNV	Uncertain Significance	1338788		GRCh37: 1:94650953-94650953 GRCh38: 1:94185397-94185397
36	DEPDC5	NM_001242896.3(DEPDC5):c.2785G>A (p.Gly929Ser)	SNV	Uncertain Significance	599003	rs1569084151	GRCh37: 22:32239782-32239782 GRCh38: 22:31843796-31843796
37	PDGFRA	NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp)	SNV	Uncertain Significance	39616	rs397514549	GRCh37: 4:55136880-55136880 GRCh38: 4:54270713-54270713
38	PDGFRA	NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala)	SNV	Uncertain Significance	39617	rs181854060	GRCh37: 4:55140770-55140770 GRCh38: 4:54274603-54274603
39	PDGFRA	NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met)	SNV	Uncertain Significance	39618	rs397514550	GRCh37: 4:55161324-55161324 GRCh38: 4:54295157-54295157
40	DNAH11	NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)	SNV	Uncertain Significance	198347	rs370932895	GRCh37: 7:21856224-21856224 GRCh38: 7:21816606-21816606
41	FANCD2, FANCD2OS	NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)	DEL	Uncertain Significance	342380	rs766605179	GRCh37: 3:10140448-10140453 GRCh38: 3:10098764-10098769
42	CPLANE1	NM_001384732.1(CPLANE1):c.356A>G (p.Tyr119Cys)	SNV	Uncertain Significance	1435621		GRCh37: 5:37244691-37244691 GRCh38: 5:37244589-37244589
43	VANGL1	NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)	SNV	Uncertain Significance	167818	rs142594314	GRCh37: 1:116206600-116206600 GRCh38: 1:115663979-115663979
44	TNFRSF13B	NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	SNV	Uncertain Significance	5302	rs34557412	GRCh37: 17:16852187-16852187 GRCh38: 17:16948873-16948873
45	NDC1	NM_018087.5(NDC1):c.1106G>A (p.Cys369Tyr)	SNV	Uncertain Significance	619169	rs1570193658	GRCh37: 1:54266482-54266482 GRCh38: 1:53800809-53800809
46	INPP1	NM_001128928.2(INPP1):c.70del (p.Gln24fs)	DEL	Uncertain Significance	619168	rs1575788223	GRCh37: 2:191224898-191224898 GRCh38: 2:190360172-190360172
47	SOX3	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	DUP	Uncertain Significance	95305	rs398124211	GRCh37: X:139586488-139586489 GRCh38: X:140504323-140504324
48	TENM4	NM_001098816.3(TENM4):c.1556G>A (p.Gly519Glu)	SNV	Likely Benign	619134	rs1591072819	GRCh37: 11:78565274-78565274 GRCh38: 11:78854229-78854229
49	NEK9	NM_033116.6(NEK9):c.1505A>G (p.Tyr502Cys)	SNV	Likely Benign	619170	rs534245464	GRCh37: 14:75573228-75573228 GRCh38: 14:75106525-75106525
50	MYO15A	NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala)	SNV	Likely Benign	195313	rs200532919	GRCh37: 17:18023568-18023568 GRCh38: 17:18120254-18120254

Copy number variations for Cleft Palate, Isolated from CNVD:

⁶

#	CNVD ID	Chromosome	Start	End	Type	CNVD Disease
1	43412	10	46400346	51237832	Deletion	cleft palate
2	161497	22	19062809	19791607	Deletion	cleft palate
3	161606	22	19412033	19790830	Duplication	cleft palate

Sources

Expression for Cleft Palate, Isolated

Search GEO for disease gene expression data for Cleft Palate, Isolated.

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Pathways for Cleft Palate, Isolated

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GO Terms for Cleft Palate, Isolated

Biological processes related to Cleft Palate, Isolated according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ER overload response	GO:0006983	9.56	WFS1 TMCO1
2	olfactory behavior	GO:0042048	9.46	WFS1 SHANK1
3	heart morphogenesis	GO:0003007	9.35	NIPBL FLNA COL11A1
4	GPI anchor metabolic process	GO:0006505	8.92	PIGW PGAP3