34 hits were found for 'BSCL2'

# ++ Fam MCID Name MIFTS Score
1
BRR012 Berardinelli-Seip Congenital Lipodystrophy 45 8.295
2
c SPS027 Spastic Paraplegia 17 23 8.045
3
SVR061 Severe Neurodegenerative Syndrome with Lipodystrophy 4 7.474
4
LPD010 Lipodystrophy 53 7.373
5
P CNG095 Congenital Generalized Lipodystrophy Type 2 42 6.232
6
c CNG012 Congenital Generalized Lipodystrophy 42 4.593
7
P INS005 Insulin Resistance 62 4.406
8
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 5 4.406
9
c DST003 Distal Hereditary Motor Neuropathy 38 3.731
10
MTR014 Motor Neuron Disease 56 3.598
11
P MND007 Mandibuloacral Dysplasia 53 3.598
12
NRN002 Neuronitis 47 3.598
13
SPS057 Spasticity 42 3.598
14
PRP016 Paraplegia 42 3.598
15
c ATS010 Autosomal Recessive Disease 39 3.598
16
c DST022 Distal Hereditary Motor Neuropathy Type V 13 3.598
17
NRP001 Neuropathy 54 3.346
18
c DBT009 Diabetes Mellitus 68 3.159
19
P MLT020 Multiple Sclerosis 75 2.544
20
ACN002 Acanthosis Nigricans 70 2.544
21
P HYP117 Hypertriglyceridemia 63 2.544
22
HRD010 Hereditary Spastic Paraplegia 54 2.544
23
P CRV039 Cervicitis 41 2.544
24
c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 14 2.544
25
GRS004 Gars-Associated Axonal Neuropathy 13 2.544
26
P MLT019 Multiple Myeloma 76 1.799
27
c HPT021 Hepatitis 65 1.799
28
c SPN046 Spinal Muscular Atrophy 60 1.799
29
c MYL007 Myeloma 53 1.799
30
P MSC003 Muscular Atrophy 51 1.799
31
P NRM005 Neuromuscular Disease 48 1.799
32
AXN001 Axonal Neuropathy 44 1.799
33
NSY001 N Syndrome 57 0.180
34
c CNG094 Congenital Generalized Lipodystrophy Type 1 13 0.081