Total: 4312 results
21(87.9%)
BRCA1
Aplasia/Hypoplasia of fingers Epicanthus Hypoplasia of the ulna Micrognathia Thick upper lip vermilion
hereditary breast carcinoma (OMIM) breast-ovarian cancer, familial, susceptibility to, 1 (OMIM) Fanconi anemia, complementation group S (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Primary peritoneal carcinoma (ORDO) Fanconi anemia (ORDO)
Autosomal dominant inheritance Somatic mutation Multifactorial inheritance Autosomal recessive inheritance
22(87.9%)
DYNC2H1
Cleft upper lip Epicanthus Hypoplasia of the ulna Micrognathia Short palm
asphyxiating thoracic dystrophy 3 (OMIM) Jeune syndrome (ORDO) Short rib-polydactyly syndrome, Verma-Naumoff type (ORDO)
Autosomal recessive inheritance Digenic inheritanec
23(87.7%)
TWIST1
Brachydactyly Micrognathia Radioulnar synostosis Short philtrum Upper eyelid coloboma
Saethre-Chotzen syndrome (OMIM) TWIST1-related craniosynostosis (OMIM) Robinow-Sorauf syndrome (OMIM) Sweeney-Cox syndrome (OMIM) Isolated scaphocephaly (ORDO) Isolated plagiocephaly (ORDO) Isolated brachycephaly (ORDO) Saethre-Chotzen syndrome (ORDO)
Autosomal dominant inheritance
24(87.7%)
UBE2T
Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb
Fanconi anemia complementation group T (OMIM) Fanconi anemia (ORDO)
Autosomal recessive inheritance
SLX4
Fanconi anemia complementation group P (OMIM) Fanconi anemia (ORDO)
BRIP1
hereditary breast carcinoma (OMIM) Fanconi anemia complementation group J (OMIM) Hereditary breast and ovarian cancer syndrome (ORDO) Fanconi anemia (ORDO)
Autosomal dominant inheritance Somatic mutation Autosomal recessive inheritance
RAD51C
Fanconi anemia complementation group O (OMIM) breast-ovarian cancer, familial, susceptibility to, 3 (OMIM) Hereditary breast and ovarian cancer syndrome (ORDO) Fanconi anemia (ORDO)
FANCC
Fanconi anemia complementation group C (OMIM) Fanconi anemia (ORDO)
FANCD2
Fanconi anemia complementation group D2 (OMIM) Fanconi anemia (ORDO)
FANCA
Fanconi anemia complementation group A (OMIM) Fanconi anemia (ORDO)