|
OMIM |
Link |
Information
gain |
01 |
|
|
iminoglycinuria
|
[NCBI]
|
0.00410348
|
|
|
|
fanconi renotubular syndrome
|
[NCBI]
|
0.00122153
|
|
|
|
dibasicaminoaciduria i
|
[NCBI]
|
0.000796434
|
|
|
|
valinemia
|
[NCBI]
|
0.000714407
|
|
|
|
LPI
|
[NCBI]
|
0.000673221
|
|
|
|
camptodactyly
|
[NCBI]
|
0.000661222
|
|
|
|
methionine malabsorption syndrome
|
[NCBI]
|
0.000661222
|
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000621736
|
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.00052247
|
|
|
|
renal failure, progressive, with hypertension
|
[NCBI]
|
0.000475624
|
|
|
|
MCDR1
|
[NCBI]
|
0.00039449
|
|
|
|
OCRL
|
[NCBI]
|
0.000389907
|
|
|
|
gracile syndrome
|
[NCBI]
|
0.000378273
|
|
|
|
hartnup disorder
|
[NCBI]
|
0.000233841
|
|
|
|
glycinuria with or without oxalate urolithiasis
|
[NCBI]
|
0.000201868
|
|
|
|
PCTT
|
[NCBI]
|
0.000193533
|
|
|
|
FBS
|
[NCBI]
|
0.000141543
|
|
|
|
PEPD
|
[NCBI]
|
0.000124913
|
|
|
|
indolylacroyl glycinuria with mental retardation
|
[NCBI]
|
0.000123215
|
|
|
|
dicarboxylicamino aciduria
|
[NCBI]
|
9.22761e-05
|
|
|
|
paine syndrome
|
[NCBI]
|
9.22761e-05
|
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
9.22761e-05
|
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
7.67254e-05
|
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
7.44097e-05
|
|
|
|
formiminotransferase deficiency
|
[NCBI]
|
7.05892e-05
|
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
7.05892e-05
|
|
|
|
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
|
[NCBI]
|
6.75057e-05
|
|
|
|
cystathioninuria
|
[NCBI]
|
6.61613e-05
|
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
6.26967e-05
|
|
|
|
dent disease 1
|
[NCBI]
|
6.26967e-05
|
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
6.16909e-05
|
|
|
|
TRMA
|
[NCBI]
|
5.98518e-05
|
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
5.63985e-05
|
|
|
|
biotinidase deficiency
|
[NCBI]
|
5.34967e-05
|
|
|
|
citrullinemia, classic
|
[NCBI]
|
5.23746e-05
|
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
5.08842e-05
|
|
|
|
SLC2A2
|
[NCBI]
|
4.9103e-05
|
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
4.8835e-05
|
|
|
|
SLC4A1
|
[NCBI]
|
4.44287e-05
|
|
|
|
tyrosinemia, type i
|
[NCBI]
|
4.316e-05
|
|
|
|
CTNS
|
[NCBI]
|
4.29165e-05
|
|
|
|
homocystinuria
|
[NCBI]
|
3.84136e-05
|
|
|
|
menkes disease
|
[NCBI]
|
3.53925e-05
|
|
|
|
wilson disease
|
[NCBI]
|
3.16156e-05
|
|
|
|
PTH
|
[NCBI]
|
2.27103e-05
|
|
