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)
FANCE
Fanconi anemia complementation group E (OMIM) Fanconi anemia (ORDO)
FANCI
Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short 1st metacarpal
Fanconi anemia complementation group I (OMIM) Fanconi anemia (ORDO)
PALB2
hereditary breast carcinoma (OMIM) Fanconi anemia complementation group N (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Fanconi anemia (ORDO)
BRCA2
hereditary breast carcinoma (OMIM) medulloblastoma (OMIM) familial prostate carcinoma (OMIM) Wilms tumor 1 (OMIM) Fanconi anemia complementation group D1 (OMIM) breast-ovarian cancer, familial, susceptibility to, 2 (OMIM) glioma susceptibility 3 (OMIM) pancreatic cancer, susceptibility to, 2 (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Nephroblastoma (ORDO) Fanconi anemia (ORDO)
Autosomal dominant inheritance Somatic mutation Autosomal recessive inheritance Heterogeneous Multifactorial inheritance
RECQL4
Baller-Gerold syndrome (OMIM) rapadilino syndrome (OMIM) Rothmund-Thomson syndrome type 2 (OMIM) Baller-Gerold syndrome (ORDO) Rothmund-Thomson syndrome type 2 (ORDO)
36(87.7%)
FGFR3
Aplasia/Hypoplasia of the mandible Cleft palate Epicanthus Hypoplasia of the ulna Short middle phalanx of finger
achondroplasia (OMIM) urinary bladder cancer (OMIM) hypochondroplasia (OMIM) LADD syndrome (OMIM) nevus, epidermal (OMIM) thanatophoric dysplasia type 1 (OMIM) thanatophoric dysplasia type 2 (OMIM) testicular germ cell tumor (OMIM) Muenke syndrome (OMIM) cervical cancer (OMIM) camptodactyly-tall stature-scoliosis-hearing loss syndrome (OMIM) Crouzon syndrome-acanthosis nigricans syndrome (OMIM) severe achondroplasia-developmental delay-acanthosis nigricans syndrome (OMIM) Achondroplasia (ORDO) Thanatophoric dysplasia type 1 (ORDO) Isolated plagiocephaly (ORDO) Isolated brachycephaly (ORDO) Hypochondroplasia (ORDO) Muenke syndrome (ORDO) Saethre-Chotzen syndrome (ORDO) Camptodactyly-tall stature-scoliosis-hearing loss syndrome (ORDO) Severe achondroplasia-developmental delay-acanthosis nigricans syndrome (ORDO) Crouzon syndrome-acanthosis nigricans syndrome (ORDO) Thanatophoric dysplasia type 2 (ORDO)
Autosomal dominant inheritance Somatic mutation Somatic mosaicism Sporadic Autosomal recessive inheritance
37(87.3%)
JAG1
Hypoplasia of the ulna Short distal phalanx of finger Thin vermilion border Upslanted palpebral fissure
Alagille syndrome due to a JAG1 point mutation (OMIM) tetralogy of fallot (OMIM) Tetralogy of Fallot (ORDO)
Autosomal dominant inheritance Multifactorial inheritance
38(87.3%)
PSMD12
Downslanted palpebral fissures Micrognathia Short thumb Thin upper lip vermilion Upper limb undergrowth
Stankiewicz-Isidor syndrome (OMIM) 17q24.2 microdeletion syndrome (ORDO)
SLC26A2
Epicanthus Micrognathia Short middle phalanx of finger Thin upper lip vermilion Upper limb undergrowth
diastrophic dysplasia (OMIM) multiple epiphyseal dysplasia type 4 (OMIM) atelosteogenesis type II (OMIM) achondrogenesis type IB (OMIM) Atelosteogenesis type II (ORDO) Diastrophic dwarfism (ORDO) Achondrogenesis type 1B (ORDO) Multiple epiphyseal dysplasia type 4 (ORDO)
40(87.1%)
FRAS1
Aplasia/Hypoplasia of the sternum Aplasia/Hypoplasia of the thumb Cleft upper lip Upper eyelid coloboma
Fraser syndrome 1 (OMIM) Fraser syndrome (ORDO)