|
OMIM |
Link |
Information
gain |
01 |
|
|
AMCN
|
[NCBI]
|
0.00893618
|
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00747044
|
|
|
|
AMC
|
[NCBI]
|
0.00718711
|
|
|
|
DA5
|
[NCBI]
|
0.00572231
|
|
|
|
gordon syndrome
|
[NCBI]
|
0.002959
|
|
|
|
DA4
|
[NCBI]
|
0.00241785
|
|
|
|
arthrogryposis multiplex congenita, distal, x-linked
|
[NCBI]
|
0.00206511
|
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.00176671
|
|
|
|
DA2B
|
[NCBI]
|
0.00128669
|
|
|
|
genitopatellar syndrome
|
[NCBI]
|
0.00117496
|
|
|
|
DA1
|
[NCBI]
|
0.00113693
|
|
|
|
DA2A
|
[NCBI]
|
0.000876781
|
|
|
|
arthrogryposis-like disorder
|
[NCBI]
|
0.000803092
|
|
|
|
neuropathy, congenital, with arthrogryposis multiplex
|
[NCBI]
|
0.000803092
|
|
|
|
AMCX5
|
[NCBI]
|
0.000803092
|
|
|
|
arthrogryposis, renal dysfunction, and cholestasis
|
[NCBI]
|
0.000673169
|
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000636679
|
|
|
|
histiocytosis with joint contractures and sensorineural deafness
|
[NCBI]
|
0.000586078
|
|
|
|
NLS
|
[NCBI]
|
0.000522752
|
|
|
|
aase-smith syndrome i
|
[NCBI]
|
0.000504756
|
|
|
|
adducted thumbs syndrome
|
[NCBI]
|
0.000504756
|
|
|
|
EPV
|
[NCBI]
|
0.000504756
|
|
|
|
spinal muscular atrophy, distal, congenital nonprogressive
|
[NCBI]
|
0.000452277
|
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000452277
|
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
0.00036069
|
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 2
|
[NCBI]
|
0.000357403
|
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000348574
|
|
|
|
VPS33B
|
[NCBI]
|
0.000343084
|
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.000335811
|
|
|
|
TNNI2
|
[NCBI]
|
0.000318214
|
|
|
|
arthrogryposis multiplex congenita with whistling face
|
[NCBI]
|
0.000308798
|
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
0.00021715
|
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
0.000216102
|
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
0.00020997
|
|
|
|
arthrogryposis, distal, type 2e
|
[NCBI]
|
0.000205761
|
|
|
|
pelvic hypoplasia with lower-limb arthrogryposis
|
[NCBI]
|
0.000205761
|
|
|
|
carney complex variant
|
[NCBI]
|
0.000205761
|
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
0.000205761
|
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
0.000174835
|
|
|
|
TNNT3
|
[NCBI]
|
0.000151796
|
|
|
|
TPM2
|
[NCBI]
|
0.000143219
|
|
|
|
MYH8
|
[NCBI]
|
0.00013282
|
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
0.000115597
|
|
|
|
COFS1
|
[NCBI]
|
0.000108434
|
|
|
|
camptodactyly-ichthyosis syndrome
|
[NCBI]
|
0.000102829
|
|
|
|
LCCS3
|
[NCBI]
|
0.000102829
|
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
0.000102829
|
|
|
|
cyprus facial neuromusculoskeletal syndrome
|
[NCBI]
|
0.000102829
|
|
|
|
syndesmodysplasic dwarfism
|
[NCBI]
|
0.000102829
|
|
|
|
arthrogryposis with hyperkeratosis
|
[NCBI]
|
0.000102829
|
|
|
|
german syndrome
|
[NCBI]
|
0.000102829
|
|
|
|
charcot-marie-tooth disease, guadalajara neuronal type
|
[NCBI]
|
0.000102829
|
|
|
|
spondylospinal thoracic dysostosis
|
[NCBI]
|
0.000102829
|
|
|
|
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
|
[NCBI]
|
0.000102829
|
|
|
|
PIP5K1C
|
[NCBI]
|
8.52043e-05
|
|
|
|
LCCS2
|
[NCBI]
|
8.03845e-05
|
|
|
|
arthrogryposis-like hand anomaly and sensorineural deafness
|
[NCBI]
|
8.03845e-05
|
|
|
|
pterygium syndrome, multiple, autosomal dominant
|
[NCBI]
|
8.03845e-05
|
|
|
|
biliary malformation with renal tubular insufficiency
|
[NCBI]
|
8.03845e-05
|
|
|
|
contractures, congenital, torticollis, and malignant hyperthermia
|
[NCBI]
|
8.03845e-05
|
|
|
|
SMN1
|
[NCBI]
|
7.74513e-05
|
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
7.19307e-05
|
|
|
|
paine syndrome
|
[NCBI]
|
7.19307e-05
|
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
7.19307e-05
|
|
|
|
MYH3
|
[NCBI]
|
7.14254e-05
|
|
|
|
CHRNG
|
[NCBI]
|
6.62258e-05
|
|
|
|
spinal muscular atrophy, type i, with congenital bone fractures
|
[NCBI]
|
6.23833e-05
|
|
|
|
CHRND
|
[NCBI]
|
6.03399e-05
|
|
|
|
hyalinosis, infantile systemic
|
[NCBI]
|
5.91477e-05
|
|
|
|
ERBB3
|
[NCBI]
|
5.83402e-05
|
|
|
|
myasthenic syndrome, congenital, fast-channel
|
[NCBI]
|
5.41664e-05
|
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
5.41664e-05
|
|
|
|
RAPSN
|
[NCBI]
|
5.19115e-05
|
|
|
|
BPP
|
[NCBI]
|
5.03868e-05
|
|
|
|
prekallikrein deficiency
|
[NCBI]
|
5.01809e-05
|
|
|
|
gaucher disease, perinatal lethal
|
[NCBI]
|
4.87914e-05
|
|
|
|
RNS
|
[NCBI]
|
4.60201e-05
|
|
|
|
DSMA1
|
[NCBI]
|
4.36699e-05
|
|
|
|
LRS1
|
[NCBI]
|
4.26169e-05
|
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
4.16315e-05
|
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
4.16315e-05
|
|
|
|
SMN2
|
[NCBI]
|
3.85443e-05
|
|
|
|
HRAS
|
[NCBI]
|
3.69723e-05
|
|
|
|
PPAC
|
[NCBI]
|
3.67732e-05
|
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
3.54494e-05
|
|
|
|
SMA2
|
[NCBI]
|
3.48293e-05
|
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
3.42341e-05
|
|
|
|
SMA3
|
[NCBI]
|
2.97499e-05
|
|
|
|
costello syndrome
|
[NCBI]
|
2.36131e-05
|
|
|
|
SMA1
|
[NCBI]
|
1.75865e-05
|
|
|
|
NS1
|
[NCBI]
|
1.51362e-05
|
|
|
|
MG
|
[NCBI]
|
1.24415e-05
|
|
|
|
CFTR
|
[NCBI]
|
7.6573e-06
|
|
|
|
MBP
|
[NCBI]
|
4.98367e-06
|
|
|
|
PWS
|
[NCBI]
|
2.97701e-07
|
|
