Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Diseases HSPD1 NA C0012634 NA NA orphanet
Diseases CFAP70 NA C0012634 NA NA orphanet
Diseases MFSD8 NA C0012634 NA NA orphanet
Diseases GBE1 NA C0012634 NA NA orphanet
Diseases HBG1 NA C0012634 NA NA orphanet
Diseases HBG2 NA C0012634 NA NA orphanet
Diseases CLN3 NA C0012634 NA NA orphanet
Diseases JUP NA C0012634 NA NA orphanet
Diseases CLN6 NA C0012634 NA NA orphanet
Diseases ACTL9 NA C0012634 NA NA orphanet
Diseases KLF1 NA C0012634 NA NA orphanet
Diseases MYH9 NA C0012634 NA NA orphanet
Diseases CYP11A1 NA C0012634 NA NA orphanet
Diseases GJC2 NA C0012634 NA NA orphanet
Diseases RAD50 NA C0012634 NA NA orphanet
Diseases MRE11 NA C0012634 NA NA orphanet
Diseases PYGL NA C0012634 NA NA orphanet
Diseases PPT1 NA C0012634 NA NA orphanet
Diseases BCL11A NA C0012634 NA NA orphanet
Diseases ITCH NA C0012634 NA NA orphanet
Diseases COQ9 NA C0012634 NA NA orphanet
Diseases TPP1 NA C0012634 NA NA orphanet
Diseases DSP NA C0012634 NA NA orphanet
Diseases SEPTIN12 NA C0012634 NA NA orphanet
Diseases DNAH1 NA C0012634 NA NA orphanet
Diseases PDE11A NA C0012634 NA NA orphanet
Diseases SLC26A8 NA C0012634 NA NA orphanet
Diseases DRC1 NA C0012634 NA NA orphanet
Diseases PMPCA NA C0012634 NA NA orphanet
Diseases ARMC2 NA C0012634 NA NA orphanet
Diseases POR NA C0012634 NA NA orphanet
Diseases GRN NA C0012634 NA NA orphanet
Diseases PRKAR1A NA C0012634 NA NA orphanet
Diseases GYG1 NA C0012634 NA NA orphanet
Diseases CFAP65 NA C0012634 NA NA orphanet
Diseases CFAP43 NA C0012634 NA NA orphanet
Diseases CATSPER1 NA C0012634 NA NA orphanet
Diseases FGFR2 NA C0012634 NA NA orphanet
Diseases HSD17B10 NA C0012634 NA NA orphanet
Diseases SPEF2 NA C0012634 NA NA orphanet
Diseases CLN8 NA C0012634 NA NA orphanet
Diseases CFAP69 NA C0012634 NA NA orphanet
Diseases TTC29 NA C0012634 NA NA orphanet
Diseases AIMP1 NA C0012634 NA NA orphanet
Diseases SPAG17 NA C0012634 NA NA orphanet
Diseases DNAJC5 NA C0012634 NA NA orphanet
Diseases CARD11 NA C0012634 NA NA orphanet
Diseases CDC42 NA C0012634 NA NA orphanet
Diseases PHKA2 NA C0012634 NA NA orphanet
Diseases PRKACA NA C0012634 NA NA orphanet
Diseases PHKG2 NA C0012634 NA NA orphanet
Diseases AK7 NA C0012634 NA NA orphanet
Diseases CTSD NA C0012634 NA NA orphanet
Diseases CFAP44 NA C0012634 NA NA orphanet
Diseases CTSF NA C0012634 NA NA orphanet
Diseases CBL NA C0012634 NA NA orphanet
Diseases FSIP2 NA C0012634 NA NA orphanet
Diseases CLN5 NA C0012634 NA NA orphanet
Diseases HHAT NA C0012634 NA NA orphanet
Diseases AGL NA C0012634 NA NA orphanet
Diseases HBB NA C0012634 NA NA orphanet
Diseases TTC21A NA C0012634 NA NA orphanet
Diseases PDE8B NA C0012634 NA NA orphanet
Diseases DNAH17 NA C0012634 NA NA orphanet
Diseases CFAP251 NA C0012634 NA NA orphanet
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