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Total: 4312 results


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Rank
(Similarity)		 Gene
Matched Phenotype  Disease Name  Modes of Inheritance

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

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

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

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

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

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

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

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

24
(87.7%)

SLX4

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

Fanconi anemia complementation group P (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

24
(87.7%)

BRIP1

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

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

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

24
(87.7%)

RAD51C

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

Fanconi anemia complementation group O (OMIM) breast-ovarian cancer, familial, susceptibility to, 3 (OMIM) Hereditary breast and ovarian cancer syndrome (ORDO) Fanconi anemia (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

24
(87.7%)

FANCC

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

Fanconi anemia complementation group C (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

24
(87.7%)

FANCD2

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

Fanconi anemia complementation group D2 (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

24
(87.7%)

FANCA

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

Fanconi anemia complementation group A (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb