Brachydactyly

Disease Term Disease ID Gene Symbol Classification References Source
Brachydactyly C0221357 BMPR1B Causal Pathogenic evidence from ClinVar - ClinVar
GDF5 Causal Pathogenic evidence from ClinVar - ClinVar
HOXD13 Causal Pathogenic evidence from ClinVar - ClinVar
IHH Causal Pathogenic evidence from ClinVar - ClinVar
NOG Causal Pathogenic evidence from ClinVar - ClinVar
PTHLH Causal Pathogenic evidence from ClinVar - ClinVar
ROR2 Causal Pathogenic evidence from ClinVar - ClinVar
A2ML1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACAN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADAMTS10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADNP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AFF4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AHSG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AKT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANTXR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARHGAP31 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Brachydactyly syndrome type C C1300268 BMPR1B Causal Pathogenic evidence from ClinVar 16957682 ClinVar
GDF5 Causal Pathogenic evidence from ClinVar 12357473 ClinVar
Brachydactyly type A1 93388 BMPR1B Causal Pathogenic evidence from ClinVar - ClinVar
GDF5 Causal Pathogenic evidence from ClinVar - ClinVar
IHH Causal Pathogenic evidence from ClinVar - ClinVar
Brachydactyly type A2 93396 BMPR1B Causal Pathogenic evidence from ClinVar - ClinVar
GDF5 Causal Pathogenic evidence from ClinVar - ClinVar
Brachydactyly type C 93384, C1862103 BMPR1B Causal Pathogenic evidence from ClinVar 16957682 ClinVar
GDF5 Causal Pathogenic evidence from ClinVar 2703235, 12357473, 14735582, 22828468, 25092592, 25820810 ClinVar
BRACHYDACTYLY, TYPE A1 (disorder) C1862151 BMPR1B Causal Pathogenic evidence from ClinVar 25758993 ClinVar
GDF5 Causal Pathogenic evidence from ClinVar 2703235, 20683927 ClinVar
IHH Causal Pathogenic evidence from ClinVar 11455389, 12384778, 12632327, 21167467, 21537345, 25959774 ClinVar
BRACHYDACTYLY, TYPE A1, D C4225183 BMPR1B Causal Pathogenic evidence from ClinVar 25758993 ClinVar
BRACHYDACTYLY, TYPE A2 C1832702 BMPR1B Causal Pathogenic evidence from ClinVar 14523231, 16957682, 18203755 ClinVar
GDF5 Causal Pathogenic evidence from ClinVar 2703235, 16014698, 16127465, 18203755, 21976273 ClinVar
BRACHYDACTYLY, TYPE A1, C C3554446 GDF5 Causal Pathogenic evidence from ClinVar 20683927, 24098149 ClinVar
Brachydactyly syndrome type E C0265312 HOXD13 Causal Pathogenic evidence from ClinVar 12649808 ClinVar
PTHLH Causal Pathogenic evidence from ClinVar 20170896 ClinVar
Brachydactyly type E 93387 HOXD13 Causal Pathogenic evidence from ClinVar - ClinVar
PTHLH Causal Pathogenic evidence from ClinVar - ClinVar
BRACHYDACTYLY, TYPE D C0220664 HOXD13 Causal Pathogenic evidence from ClinVar 12649808, 17236141, 24239177 ClinVar
NON RARE IN EUROPE: Brachydactyly type D 93385 HOXD13 Causal Pathogenic evidence from ClinVar - ClinVar
Brachydactyly type B2 140908 NOG Causal Pathogenic evidence from ClinVar - ClinVar
BRACHYDACTYLY, TYPE B1 C1862112 NOG Causal Pathogenic evidence from ClinVar - ClinVar
ROR2 Causal Pathogenic evidence from ClinVar 19461659, 19533773 ClinVar
BRACHYDACTYLY, TYPE B2 (disorder) C1969652 NOG Causal Pathogenic evidence from ClinVar 17668388 ClinVar
BRACHYDACTYLY, TYPE E2 C3150644 PTHLH Causal Pathogenic evidence from ClinVar 20170896 ClinVar
Brachydactyly syndrome type B C1300267 ROR2 Causal Pathogenic evidence from ClinVar 10700182, 10986040 ClinVar
Brachydactyly type B1 572385 ROR2 Causal Pathogenic evidence from ClinVar - ClinVar