Spondylometaphyseal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Spondylometaphyseal dysplasia, axial C1865695 CFAP410 Causal Pathogenic evidence from ClinVar 23105016, 26167768, 26974433, 27548899, 28422394 ClinVar
Spondylometaphyseal dysplasia, `corner fracture` type 93315, C0432221 FN1 Causal Pathogenic evidence from ClinVar 29100092, 30599297 ClinVar
COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17163530 -
Spondylometaphyseal dysplasia, Sedaghatian type 93317, C1855229 GPX4 Causal Pathogenic evidence from ClinVar 24706940 ClinVar
Autosomal recessive spondylometaphyseal dysplasia, M garban type 401979 PAM16 Causal Pathogenic evidence from ClinVar - ClinVar
Spondylometaphyseal dysplasia, Kozlowski type 93314, C0265280 TRPV4 Causal Pathogenic evidence from ClinVar 19232556, 20577006, 22702953 ClinVar
Spondylometaphyseal dysplasia, Algerian type C1866688 COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23653587 -
Spondylometaphyseal dysplasia, Schmidt type 93316 COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE C1849011 DDR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8434618, 19110212, 20223752, 26463668 -
SPASTIC PARAPLEGIA 23 (disorder) C0796019 DSTYK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28157540 -
Spastic paraplegia 13, autosomal dominant C1854467 HSPD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1189812, 11898127, 18571143, 27604308 -
Spastic paraplegia 10, autosomal dominant C1858712 KIF5A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12355402, 15452312, 16476820, 16489470, 18203753, 18245137, 18853458, 21107874, 21623771, 25352184, 29566793, 29903433 -
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder) C1858106 PPM1N Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RTN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22232211, 28362824 -
Spastic paraplegia 15, autosomal recessive C1849128 ZFYVE26 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17661097, 18394578, 19805727, 19917823, 23733235, 24357685, 24833714, 25497598, 25525159, 25842392, 26633545, 27217339, 27544497 -