Search results for "[genes] APRT"

18 hits were found for '[genes] APRT'

# Family MCID Name MIFTS Score
1
ADN024 Adenine Phosphoribosyltransferase Deficiency 51 25.097
2
P NPH009 Nephrolithiasis 60 19.440
3
P GT001 Gout 58 19.440
4
LSC001 Lesch-Nyhan Syndrome 61 17.746
5
P MCP010 Mucopolysaccharidosis 60 17.746
6
c MCP004 Mucopolysaccharidosis Iv 60 15.873
7
INT067 Interstitial Nephritis 46 15.873
8
P XNT004 Xanthinuria 37 15.873
9
c MCP038 Mucopolysaccharidosis Iva 47 13.746
10
c XNT010 Xanthinuria, Type I 47 13.746
11
IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 42 13.746
12
URT014 Ureterolithiasis 36 13.746
13
UTR011 Uterine Corpus Serous Adenocarcinoma 34 13.746
14
c FML008 Familial Retinoblastoma 33 13.746
15
c HPR001 Hprt-Related Gout 32 13.746
16
PRN024 Purine-Pyrimidine Metabolic Disorder 31 13.746
17
c HRD142 Hereditary Xanthinuria 28 13.746
18
DHY008 Dihydroxyadeninuria 11 13.746