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Total: 4312 results


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

49
(85.1%)

FANCG

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

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

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

49
(85.1%)

XRCC2

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia complementation group U (OMIM) Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORDO) Fanconi anemia (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

49
(85.1%)

FANCM

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

spermatogenic failure 28 (OMIM) premature ovarian failure 15 (OMIM) Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORDO) Fanconi anemia (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

49
(85.1%)

RFWD3

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia, complementation group W (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

49
(85.1%)

FANCL

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

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

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

49
(85.1%)

RAD51

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

hereditary breast carcinoma (OMIM) mirror movements 2 (OMIM) Fanconi anemia complementation group R (OMIM) Hereditary breast and ovarian cancer syndrome (ORDO) Familial congenital mirror movements (ORDO) Fanconi anemia (ORDO)

Autosomal dominant inheritance Somatic mutation

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

49
(85.1%)

FANCB

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

Fanconi anemia complementation group B (OMIM) VACTERL association, X-linked, with or without hydrocephalus (OMIM) VACTERL with hydrocephalus (ORDO) Fanconi anemia (ORDO)

X-linked recessive inheritance Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

49
(85.1%)

ERCC4

Aplasia/Hypoplasia of fingers Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia

xeroderma pigmentosum group F (OMIM) XFE progeroid syndrome (OMIM) Fanconi anemia complementation group Q (OMIM) Xeroderma pigmentosum-Cockayne syndrome complex (ORDO) Fanconi anemia (ORDO) Xeroderma pigmentosum (ORDO)

Autosomal recessive inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

59
(84.7%)

RPL26

Abnormal eyelid morphology Absent thumb Hypoplasia of the radius Hypoplasia of the ulna Thick lower lip vermilion

Diamond-Blackfan anemia 11 (OMIM) Blackfan-Diamond anemia (ORDO)

Autosomal dominant inheritance

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb

60
(84.0%)

FGFRL1

Cleft upper lip Epicanthus Micrognathia Radioulnar synostosis Short thumb

Wolf-Hirschhorn syndrome (OMIM)

Autosomal dominant inheritance Sporadic

NCBI Gene       HGMD       ClinVar       TogoVar       LitVar       PubTator       DGIdb