Epiphyseal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Epiphyseal dysplasia C0392476 COL9A2 Causal Pathogenic evidence from ClinVar - ClinVar
COL9A3 Causal Pathogenic evidence from ClinVar - ClinVar
COMP Causal Pathogenic evidence from ClinVar - ClinVar
ARSB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B3GALT6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CANT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDKN1C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL11A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL11A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL9A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EIF2AK3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EXTL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FLNB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HSPA9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LOXL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LTBP3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MATN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTH1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RNU4ATAC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC26A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TMEM165 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRPV4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
XYLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Epiphyseal dysplasia, multiple, 2 C1838429 COL9A2 Causal Pathogenic evidence from ClinVar 12244547, 20358595, 21671392 ClinVar
EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 C1832998 COL9A3 Causal Pathogenic evidence from ClinVar 10090888, 10678658, 15551337, 24273071, 25381065 ClinVar
Epiphyseal dysplasia, multiple, 1 C1838280 COMP Causal Pathogenic evidence from ClinVar 7670472, 9021009, 9184241, 9452026, 9463320, 9887340, 9921895, 11084047, 11565064, 15523498, 17133256, 21922596, 27330822 ClinVar
EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 C4540251 CANT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28742282 -
EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 C2675767 COL9A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11565064, 16691584 -
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 C1846843 MATN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11479597, 12884427, 14729835, 15459972, 15948199, 16287128, 20358595, 21922596 -
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 C1847593 SLC26A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7923357, 8528239, 8571951, 8931695, 9342225, 9637425, 10465113, 10482955, 11241838, 11303514, 11448940, 11565064, 12525546, 12966518, 15294877, 15316973, 16642506, 18925670, 20219950, 20525296, 20592910, 21077202, 21077204, 21155763, 21922596, 26375458 -