|
OMIM |
Link |
Information gain |
01 |
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.00114043
|
|
|
diarrhea 3, secretory sodium, congenital
|
[NCBI]
|
0.00092257
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
0.000705325
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
0.000704467
|
|
|
cataract and cardiomyopathy
|
[NCBI]
|
0.000667246
|
|
|
visceral neuropathy, familial, autosomal recessive
|
[NCBI]
|
0.000647644
|
|
|
diarrhea 2, with microvillous atrophy
|
[NCBI]
|
0.000614596
|
|
|
megaduodenum and/or megacystis
|
[NCBI]
|
0.000544115
|
|
|
propionic acidemia
|
[NCBI]
|
0.000536912
|
|
|
IVA
|
[NCBI]
|
0.00050324
|
|
|
PTH
|
[NCBI]
|
0.000481864
|
|
|
PHA2
|
[NCBI]
|
0.000447513
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
0.000431626
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
0.00042512
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.00036875
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
0.000361963
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
0.000320654
|
|
|
fructose-1,6-bisphosphatase deficiency
|
[NCBI]
|
0.000305976
|
|
|
biotinidase deficiency
|
[NCBI]
|
0.000243983
|
|
|
MADD
|
[NCBI]
|
0.000234773
|
|
|
alpha-methylacetoacetic aciduria
|
[NCBI]
|
0.000229277
|
|
|
RA
|
[NCBI]
|
0.000223171
|
|
|
mitochondrial myopathy with lactic acidosis
|
[NCBI]
|
0.000214539
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000187325
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
0.000183605
|
|
|
hawkinsinuria
|
[NCBI]
|
0.000160054
|
|
|
ACCN2
|
[NCBI]
|
0.000152359
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
0.000137408
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
0.000130887
|
|
|
MHS1
|
[NCBI]
|
0.000129343
|
|
|
OXCT1
|
[NCBI]
|
0.000110723
|
|
|
ACAT1
|
[NCBI]
|
0.000110723
|
|
|
gonadal dysgenesis, hypergonadotropic, xx type, short stature, and recurrent metabolic acidosis
|
[NCBI]
|
0.000107201
|
|
|
lactic acidosis, chronic adult form
|
[NCBI]
|
0.000107201
|
|
|
hypermetabolism due to defect in mitochondria
|
[NCBI]
|
0.000107201
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
0.000104838
|
|
|
MLYCD
|
[NCBI]
|
0.000102558
|
|
|
HPD
|
[NCBI]
|
0.000102558
|
|
|
AVP
|
[NCBI]
|
0.00010252
|
|
|
GSS
|
[NCBI]
|
9.94754e-05
|
|
|
GCE
|
[NCBI]
|
9.83019e-05
|
|
|
PCCB
|
[NCBI]
|
8.18478e-05
|
|
|
malonyl-coa decarboxylase deficiency
|
[NCBI]
|
7.62899e-05
|
|
|
lactose intolerance, congenital
|
[NCBI]
|
6.6729e-05
|
|
|
glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to
|
[NCBI]
|
6.6729e-05
|
|
|
pyruvate dehydrogenase phosphatase deficiency
|
[NCBI]
|
6.6729e-05
|
|
|
MLASA
|
[NCBI]
|
6.6729e-05
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
6.34866e-05
|
|
|
native american myopathy
|
[NCBI]
|
6.34866e-05
|
|
|
mitochondrial complex iii deficiency
|
[NCBI]
|
6.34866e-05
|
|
|
pancreatic agenesis, congenital
|
[NCBI]
|
5.84918e-05
|
|
|
ZS
|
[NCBI]
|
5.21853e-05
|
|
|
corticosterone methyloxidase type ii deficiency
|
[NCBI]
|
5.16425e-05
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
5.03118e-05
|
|
|
ETFA
|
[NCBI]
|
4.96897e-05
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
4.90853e-05
|
|
|
PCK2
|
[NCBI]
|
4.7185e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
4.68883e-05
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
4.68883e-05
|
|
|
KCNH2
|
[NCBI]
|
4.4349e-05
|
|
|
holocarboxylase synthetase deficiency
|
[NCBI]
|
4.40844e-05
|
|
|
glutaric acidemia i
|
[NCBI]
|
4.40844e-05
|
|
|
MTTF
|
[NCBI]
|
4.35329e-05
|
|
|
IPEX
|
[NCBI]
|
4.24633e-05
|
|
|
HLCS
|
[NCBI]
|
4.2115e-05
|
|
|
CF
|
[NCBI]
|
4.15724e-05
|
|
|
WNK1
|
[NCBI]
|
3.97765e-05
|
|
|
MELAS
|
[NCBI]
|
3.84312e-05
|
|
|
PCCA
|
[NCBI]
|
3.78899e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
3.78524e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
3.78524e-05
|
|
|
LCA1
|
[NCBI]
|
3.62389e-05
|
|
|
LPO
|
[NCBI]
|
3.49495e-05
|
|
|
MUT
|
[NCBI]
|
3.49495e-05
|
|
|
OCRL
|
[NCBI]
|
3.4783e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
3.38863e-05
|
|
|
CYP11B2
|
[NCBI]
|
3.2695e-05
|
|
|
MTCYB
|
[NCBI]
|
3.2695e-05
|
|
|
ACADS
|
[NCBI]
|
3.08681e-05
|
|
|
PTK2B
|
[NCBI]
|
3.04608e-05
|
|
|
GCDH
|
[NCBI]
|
2.93336e-05
|
|
|
PLN
|
[NCBI]
|
2.86497e-05
|
|
|
CTNS
|
[NCBI]
|
2.76279e-05
|
|
|
PDHA1
|
[NCBI]
|
2.74139e-05
|
|
|
RTS
|
[NCBI]
|
2.70763e-05
|
|
|
VIP
|
[NCBI]
|
2.14648e-05
|
|
|
LS
|
[NCBI]
|
1.95986e-05
|
|
|
ACADM
|
[NCBI]
|
1.81449e-05
|
|
|
FRDA
|
[NCBI]
|
1.63802e-05
|
|
|
KSS
|
[NCBI]
|
1.27972e-05
|
|
|
ALB
|
[NCBI]
|
5.84568e-06
|
|
|
SOD2
|
[NCBI]
|
5.78738e-06
|
|
|
XDH
|
[NCBI]
|
5.20293e-06
|
|
|
EPO
|
[NCBI]
|
4.75912e-06
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
4.14421e-06
|
|
|
PPARA
|
[NCBI]
|
3.15602e-06
|
|
|
TTR
|
[NCBI]
|
2.92783e-06
|
|
|
PRL
|
[NCBI]
|
2.51701e-06
|
|
|
VEGF
|
[NCBI]
|
2.35854e-06
|
|
|
MPO
|
[NCBI]
|
1.38795e-06
|
|
|
ADA
|
[NCBI]
|
1.2359e-06
|
|
|
TNF
|
[NCBI]
|
9.18454e-07
|
|
|
GFAP
|
[NCBI]
|
5.85865e-07
|
|
|
F3
|
[NCBI]
|
4.52858e-07
|
|
|
NGFB
|
[NCBI]
|
3.58623e-07
|
|