Disease Description

UMLS CUI C0008925
UMLS Term Cleft Palate
MeSH ID D002972
MeSH Term Cleft Palate
Disease Classes

Musculoskeletal Diseases

Stomatognathic Diseases

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Gene Symbol Description Entrez ID Uniprot ID Chromosomal Location

SPRY2

sprouty RTK signaling antagonist 2

10253

O43597

chr13: 80,335,976-80,340,951

MTHFS

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)

10588

P49914

chr15: 79,833,585-79,897,379

DLG1

discs, large homolog 1 (Drosophila)

1739

Q12959

chr3: 197,042,560-197,299,300

FGF2

fibroblast growth factor 2 (basic)

2247

P09038

chr4: 122,826,708-122,898,236

FGF7

fibroblast growth factor 7

2252

P21781

chr15: 49,423,096-49,488,775

FGF9

fibroblast growth factor 9

2254

P31371

chr13: 21,671,383-21,704,498

FGFR1

fibroblast growth factor receptor 1

2260

P11362

chr8: 38,411,138-38,468,834

FGFR2

fibroblast growth factor receptor 2

2263

P21802

chr10: 121,478,334-121,598,458

IRF6

interferon regulatory factor 6

3664

O14896

chr1: 209,785,623-209,806,175

MNT

MAX network transcriptional repressor

4335

Q99583

chr17: 2,384,060-2,401,118

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

4548

Q99707

chr1: 236,795,281-236,903,981

MYC

v-myc avian myelocytomatosis viral oncogene homolog

4609

P01106

chr8: 127,735,434-127,741,434

NOS3

nitric oxide synthase 3

4846

P29474

chr7: 150,990,995-151,014,588

PDGFRA

platelet-derived growth factor receptor, alpha polypeptide

5156

P16234

chr4: 54,229,097-54,298,247

BNC2

basonuclin 2

54796

Q6ZN30

chr9: 16,409,503-16,870,843

PTCH1

patched 1

5727

Q13635

chr9: 95,442,980-95,517,057

SIM2

single-minded family bHLH transcription factor 2

6493

Q14190

chr21: 36,699,133-36,749,917

SLC19A1

solute carrier family 19 (folate transporter), member 1

6573

P41440

chr21: 45,493,572-45,544,411

TGFB1

transforming growth factor beta 1

7040

P01137

chr19: 41,301,587-41,353,911

TGFB2

transforming growth factor beta 2

7042

P61812

chr1: 218,346,235-218,444,619

TYMS

thymidylate synthetase

7298

P04818

chr18: 657,604-673,578

FZD4

frizzled class receptor 4

8322

Q9ULV1

chr11: 86,945,679-86,955,391

CASK

calcium/calmodulin-dependent serine protein kinase (MAGUK family)

8573

O14936

chrX: 41,514,934-41,923,463

CBFB

core-binding factor, beta subunit

865

Q13951

chr16: 67,029,116-67,101,058