Disease Description

UMLS CUI C0080178
UMLS Term Spina Bifida
MeSH ID D016135
MeSH Term Spinal Dysraphism
Disease Classes

Nervous System Diseases

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Gene Symbol Description Entrez ID Uniprot ID Chromosomal Location

CFL1

cofilin 1 (non-muscle)

1072

P23528

chr11: 65,823,022-65,862,026

CHKA

choline kinase alpha

1119

P35790

chr11: 68,052,859-68,121,444

FGFR2

fibroblast growth factor receptor 2

2263

P21802

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

TXN2

thioredoxin 2

25828

Q99757

chr22: 36,467,036-36,482,030

PCMT1

protein-L-isoaspartate (D-aspartate) O-methyltransferase

5110

P22061

chr6: 149,749,443-149,811,420

PCYT1A

phosphate cytidylyltransferase 1, choline, alpha

5130

P49585

chr3: 196,214,222-196,287,957

PDGFRA

platelet-derived growth factor receptor, alpha polypeptide

5156

P16234

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

PON1

paraoxonase 1

5444

P27169

chr7: 95,297,676-95,324,707

CCL2

chemokine (C-C motif) ligand 2

6347

P13500

chr17: 34,255,218-34,257,203