Search results for "[genes] BSCL2"

20 hits were found for '[genes] BSCL2'

# Family MCID Name MIFTS Score
1
P LPD010 Lipodystrophy 51 22.126
2
c SPS027 Spastic Paraplegia 17 22 19.162
3
c CNG012 Congenital Generalized Lipodystrophy 42 19.162
4
BRR012 Berardinelli-Seip Congenital Lipodystrophy 29 17.492
5
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 32 15.646
6
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 25 15.646
7
MTR014 Motor Neuron Disease 57 15.646
8
c DST022 Distal Hereditary Motor Neuropathy Type V 27 13.549
9
SLV005 Silver Spastic Paraplegia Syndrome 24 13.549
10
ATS010 Autosomal Recessive Disease 40 13.549
11
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 8 13.549
12
NRP015 Neuropathy, Congenital Hypomyelinating 43 11.063
13
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 45 11.063
14
MND007 Mandibuloacral Dysplasia 51 11.063
15
ADP001 Adiposis Dolorosa 44 11.063
16
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 25 11.063
17
PGM003 Pigmentation Disease 34 11.063
18
GRS004 Gars-Associated Axonal Neuropathy 13 11.063
19
OSM001 Osmotic Diarrhea 28 11.063
20
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 7.823