Search results for slc12a6

95 hits were found for slc12a6

# Family MCID Name MIFTS Score
1
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 50 66.556
2
P NRP001 Neuropathy 59 20.333
3
P CHR071 Charcot-Marie-Tooth Disease 64 16.562
4
SNS003 Sensory Peripheral Neuropathy 51 12.268
5
CRP032 Corpus Callosum, Agenesis of 49 11.681
6
HYP748 Hypertelorism 46 11.681
7
P EPL198 Epilepsy, Myoclonic Juvenile 61 10.830
8
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 63 10.239
9
MTR007 Motor Peripheral Neuropathy 41 10.239
10
HRD103 Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum 13 10.210
11
c ATS007 Autism Spectrum Disorder 72 10.078
12
c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67 10.078
13
MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 47 10.078
14
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 35 8.729
15
c ATS452 Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy 18 8.729
16
BNG009 Benign Epilepsy with Centrotemporal Spikes 60 8.552
17
c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 36 7.288
18
c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 47 7.288
19
c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 37 7.288
20
P BRT004 Bartter Disease 58 7.288
21
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 58 7.126
22
ACR058 Acrofacial Dysostosis 1, Nager Type 49 7.126
23
c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 38 7.126
24
P ATX024 Ataxia-Oculomotor Apraxia 3 46 7.126
25
RHD001 Rh Deficiency Syndrome 34 7.126
26
TBR009 Tuberculous Empyema 23 7.126
27
P DYS007 Dyskeratosis Congenita 66 7.126
28
c DYS040 Dyskeratosis Congenita Autosomal Recessive 27 7.126
29
c AXN013 Axonal Hereditary Motor and Sensory Neuropathy 14 7.126
30
P PRP019 Peripheral Nervous System Disease 57 2.143
31
TTH006 Tooth Disease 51 1.575
32
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.549
33
P EPL140 Epilepsy, Idiopathic Generalized 60 1.425
34
c MJR024 Major Affective Disorder 9 40 1.263
35
c MJR022 Major Affective Disorder 8 37 1.263
36
P BPL003 Bipolar Disorder 56 1.263
37
P ATT013 Attention Deficit-Hyperactivity Disorder 66 1.114
38
NRM005 Neuromuscular Disease 63 1.114
39
SPS057 Spasticity 43 1.114
40
c SZR022 Seizures, Benign Familial Neonatal, 1 42 1.076
41
c HRD026 Hereditary Ataxia 46 1.076
42
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 1.076
43
P HYP265 Hypotonia 42 1.076
44
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 1.032
45
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.032
46
P MSC003 Muscular Atrophy 52 1.032
47
P SPN046 Spinal Muscular Atrophy 62 0.981
48
ERL001 Early Myoclonic Encephalopathy 63 0.752
49
P BRS047 Breast Cancer 97 0.602
50
P PNC035 Pancreatic Cancer 86 0.602
51
ATS010 Autosomal Recessive Disease 42 0.361
52
CRP035 Corpus Callosum, Partial Agenesis of, X-Linked 38 0.323
53
PRP016 Paraplegia 52 0.280
54
P SCL018 Scoliosis 57 0.229
55
P PLY019 Polyneuropathy 53 0.229
56
c HRD010 Hereditary Spastic Paraplegia 65 0.229
57
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52 0.229
58
GST092 Gastroesophageal Reflux 60 0.162
59
P MJR007 Major Affective Disorder 1 42 0.162
60
MYL069 Myeloma, Multiple 77 0.162
61
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 51 0.162
62
c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 46 0.162
63
c DVL033 Developmental and Epileptic Encephalopathy 1 49 0.162
64
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 37 0.162
65
BRR014 Barrett Esophagus 66 0.162
66
c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 24 0.162
67
WST001 West Syndrome 64 0.162
68
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 42 0.162
69
TRS021 Triosephosphate Isomerase Deficiency 44 0.162
70
c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 28 0.162
71
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.162
72
c HYD019 Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius 48 0.162
73
MST006 Mast Syndrome 40 0.162
74
c AMY022 Amyotrophic Lateral Sclerosis Type 5 34 0.162
75
c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 31 0.162
76
c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 27 0.162
77
P MJR001 Major Depressive Disorder 68 0.162
78
c SPS109 Spastic Paraplegia 46, Autosomal Recessive 43 0.162
79
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 40 0.162
80
c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 40 0.162
81
SJG002 Sjogren-Larsson Syndrome 53 0.162
82
c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 36 0.162
83
P ADN016 Adenocarcinoma 63 0.162
84
P LTR001 Lateral Sclerosis 58 0.162
85
P HYD006 Hydrocephalus 63 0.162
86
MDD011 Mood Disorder 62 0.162
87
GTL001 Gitelman Syndrome 65 0.162
88
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 0.162
89
c SPS025 Spastic Paraplegia 15 30 0.162
90
c CNG216 Congenital Hydrocephalus 50 0.162
91
P JVN050 Juvenile Amyotrophic Lateral Sclerosis 42 0.162
92
P AXN001 Axonal Neuropathy 33 0.162
93
P MTC069 Mitochondrial Disorders 57 0.162
94
c SPS092 Spastic Paraplegia 11 37 0.162
95
P DMY005 Demyelinating Hereditary Motor and Sensory Neuropathy 7 0.162
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