|
OMIM |
Link |
Information gain |
01 |
|
glycogen storage disease ii
|
[NCBI]
|
0.00463898
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.00224712
|
|
|
gangliosidosis, gm2, type iii, or juvenile type
|
[NCBI]
|
0.00211895
|
|
|
gaucher disease, type i
|
[NCBI]
|
0.00196178
|
|
|
GBA
|
[NCBI]
|
0.000867995
|
|
|
PCLD
|
[NCBI]
|
0.00070946
|
|
|
gaucher disease, type iii
|
[NCBI]
|
0.000700256
|
|
|
GAA
|
[NCBI]
|
0.000389089
|
|
|
RA
|
[NCBI]
|
0.000365743
|
|
|
CSID
|
[NCBI]
|
0.000329807
|
|
|
glycogen storage disease iii
|
[NCBI]
|
0.000329807
|
|
|
gaucher disease, type ii
|
[NCBI]
|
0.000274608
|
|
|
SLE
|
[NCBI]
|
0.000249537
|
|
|
danon disease
|
[NCBI]
|
0.000150588
|
|
|
acid phosphatase deficiency
|
[NCBI]
|
0.000146435
|
|
|
PRKCSH
|
[NCBI]
|
0.000117941
|
|
|
amish infantile epilepsy syndrome
|
[NCBI]
|
0.00011488
|
|
|
neuraminidase deficiency
|
[NCBI]
|
9.76512e-05
|
|
|
lactose intolerance, congenital
|
[NCBI]
|
9.52867e-05
|
|
|
LCT
|
[NCBI]
|
8.45498e-05
|
|
|
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
|
[NCBI]
|
8.12347e-05
|
|
|
enterokinase deficiency
|
[NCBI]
|
7.80048e-05
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
7.51856e-05
|
|
|
GANC
|
[NCBI]
|
7.17475e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
7.06672e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
6.48191e-05
|
|
|
FBS
|
[NCBI]
|
5.90502e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
5.5554e-05
|
|
|
LAMP2
|
[NCBI]
|
5.23827e-05
|
|
|
glycogen storage disease ib
|
[NCBI]
|
5.07634e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.9116e-05
|
|
|
TSD
|
[NCBI]
|
4.8738e-05
|
|
|
CF
|
[NCBI]
|
4.86137e-05
|
|
|
MARCKS
|
[NCBI]
|
4.55934e-05
|
|
|
PKD2
|
[NCBI]
|
4.04755e-05
|
|
|
PSAP
|
[NCBI]
|
4.00962e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
3.65295e-05
|
|
|
GANAB
|
[NCBI]
|
3.58415e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
3.58176e-05
|
|
|
NPC1
|
[NCBI]
|
3.16934e-05
|
|
|
PRSS7
|
[NCBI]
|
2.98719e-05
|
|
|
PGAM1
|
[NCBI]
|
2.71343e-05
|
|
|
PDIA3
|
[NCBI]
|
2.71343e-05
|
|
|
IDH2
|
[NCBI]
|
2.58703e-05
|
|
|
phosphoglycerate mutase, muscle, deficiency of
|
[NCBI]
|
2.53355e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
2.4504e-05
|
|
|
GALE
|
[NCBI]
|
2.26103e-05
|
|
|
GALK1
|
[NCBI]
|
2.15144e-05
|
|
|
TK1
|
[NCBI]
|
2.10413e-05
|
|
|
SLC3A1
|
[NCBI]
|
2.06071e-05
|
|
|
NPC1
|
[NCBI]
|
1.98334e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
1.85616e-05
|
|
|
PEPD
|
[NCBI]
|
1.76566e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
1.70946e-05
|
|
|
FH
|
[NCBI]
|
1.65875e-05
|
|
|
PGM1
|
[NCBI]
|
1.64918e-05
|
|
|
CEL
|
[NCBI]
|
1.57839e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
1.3989e-05
|
|
|
G6PD
|
[NCBI]
|
8.46058e-06
|
|
|
APRT
|
[NCBI]
|
8.06678e-06
|
|
|
PI
|
[NCBI]
|
7.56964e-06
|
|
|
MBL2
|
[NCBI]
|
7.08267e-06
|
|
|
GPI
|
[NCBI]
|
7.01551e-06
|
|
|
EGF
|
[NCBI]
|
6.89044e-06
|
|
|
INS
|
[NCBI]
|
6.78219e-06
|
|
|
ACPP
|
[NCBI]
|
6.29502e-06
|
|
|
PGR
|
[NCBI]
|
5.66394e-06
|
|
|
ACE
|
[NCBI]
|
5.44101e-06
|
|
|
CFTR
|
[NCBI]
|
5.21573e-06
|
|
|
PTK2
|
[NCBI]
|
1.72608e-06
|
|
|
ADA
|
[NCBI]
|
1.60769e-06
|
|
|
TG
|
[NCBI]
|
1.43452e-06
|
|
|
PTH
|
[NCBI]
|
1.25033e-06
|
|
|
F3
|
[NCBI]
|
7.54036e-07
|
|
|
LPL
|
[NCBI]
|
2.48348e-07
|
|
|
KLK3
|
[NCBI]
|
1.90428e-07
|
|
|
MBP
|
[NCBI]
|
1.32482e-07
|
|
|
CD
|
[NCBI]
|
1.28468e-07
|
|