Hypotrichosis

Disease Term Disease ID Gene Symbol Classification References Source
Hypotrichosis C0020678 APCDD1 Causal Pathogenic evidence from ClinVar - ClinVar
DSG4 Causal Pathogenic evidence from ClinVar - ClinVar
KRT25 Causal Pathogenic evidence from ClinVar - ClinVar
KRT71 Causal Pathogenic evidence from ClinVar 22592156 ClinVar
LIPH Causal Pathogenic evidence from ClinVar 23066499 ClinVar
LPAR6 Causal Pathogenic evidence from ClinVar - ClinVar
LSS Causal Pathogenic evidence from ClinVar - ClinVar
RPL21 Causal Pathogenic evidence from ClinVar - ClinVar
SNRPE Causal Pathogenic evidence from ClinVar - ClinVar
ABCA12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALOX12B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALOXE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ANTXR1 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 - -
CDH3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CLDN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CLMP 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 - -
CYP4F22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DSC3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DSG1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EDA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EDA2R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EDAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EDARADD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FLNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GJB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GSN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HOXC13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KDF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRT74 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRT81 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRT83 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRT86 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LIPN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LMNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MBTPS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPOTRICHOSIS 1 C4551976 APCDD1 Causal Pathogenic evidence from ClinVar 20393562, 22512811 ClinVar
HYPOTRICHOSIS 6 C1842839 DSG4 Causal Pathogenic evidence from ClinVar 15304105 ClinVar
DSG1-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPOTRICHOSIS 8 C3279470 KRT25 Causal Pathogenic evidence from ClinVar 26160856 ClinVar
LPAR6 Causal Pathogenic evidence from ClinVar 18297070, 18297072, 18461368, 25119526 ClinVar
HYPOTRICHOSIS 13 C4014616 KRT71 Causal Pathogenic evidence from ClinVar 22592156 ClinVar
Total Hypotrichosis, Mari type C1836672 LIPH Causal Pathogenic evidence from ClinVar 17095700, 18830268, 19167195, 19892526, 23590372, 24722066 ClinVar
HYPOTRICHOSIS 14 C4748930 LSS Causal Pathogenic evidence from ClinVar 30401459 ClinVar
HYPOTRICHOSIS 12 C4014563 RPL21 Causal Pathogenic evidence from ClinVar 21412954 ClinVar
HYPOTRICHOSIS 11 C3554409 SNRPE Causal Pathogenic evidence from ClinVar 9621144, 23246290 ClinVar
HYPOTRICHOSIS 3 C3151432 KRT74 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21188418, 24714551 -