33 hits were found for 'BSCL2'

# Family MCID Name MIFTS Score
1
BRR012 Berardinelli-Seip Congenital Lipodystrophy 48 8.294
2
c SPS027 Spastic Paraplegia 17 28 8.044
3
SVR059 Severe Neurodegenerative Syndrome with Lipodystrophy 7 7.472
4
LPD010 Lipodystrophy 59 7.373
5
P CNG095 Congenital Generalized Lipodystrophy Type 2 51 6.231
6
c CNG012 Congenital Generalized Lipodystrophy 44 4.594
7
P INS005 Insulin Resistance 48 4.406
8
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 10 4.406
9
c DST003 Distal Hereditary Motor Neuropathy 42 3.732
10
NRN002 Neuronitis 64 3.598
11
MTR014 Motor Neuron Disease 63 3.598
12
MND007 Mandibuloacral Dysplasia 55 3.598
13
PRP016 Paraplegia 48 3.598
14
c ATS010 Autosomal Recessive Disease 39 3.598
15
SPS057 Spasticity 29 3.598
16
c DST022 Distal Hereditary Motor Neuropathy Type V 17 3.598
17
NRP001 Neuropathy 61 3.373
18
c DBT009 Diabetes Mellitus 80 3.159
19
P MLT020 Multiple Sclerosis 82 2.544
20
ACN002 Acanthosis Nigricans 73 2.544
21
HRD010 Hereditary Spastic Paraplegia 59 2.544
22
P HYP117 Hypertriglyceridemia 54 2.544
23
P CRV039 Cervicitis 52 2.544
24
P NRP032 Neuropathy, Distal Hereditary Motor, Type Va 25 2.544
25
GRS004 Gars-Associated Axonal Neuropathy 17 2.544
26
P MLT019 Multiple Myeloma 89 1.799
27
c HPT021 Hepatitis 75 1.799
28
c SPN046 Spinal Muscular Atrophy 63 1.799
29
c MYL007 Myeloma 59 1.799
30
NRM005 Neuromuscular Disease 55 1.799
31
P MSC003 Muscular Atrophy 52 1.799
32
AXN001 Axonal Neuropathy 45 1.799
33
c CNG094 Congenital Generalized Lipodystrophy Type 1 17 0.081