Search results for kcnb1

113 hits were found for kcnb1

# Family MCID Name MIFTS Score
1
UND011 Undetermined Early-Onset Epileptic Encephalopathy 44 74.793
2
c DVL052 Developmental and Epileptic Encephalopathy 26 36 50.814
3
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 48.659
4
P DVL113 Developmental and Epileptic Encephalopathy 43 27.918
5
c DVL033 Developmental and Epileptic Encephalopathy 1 56 24.737
6
OHT001 Ohtahara Syndrome 38 24.737
7
P ERL057 Early Infantile Epileptic Encephalopathy 60 24.016
8
DSS008 Disease of Mental Health 74 23.861
9
P EPL164 Epilepsy 68 19.254
10
ISC004 Ischemia 61 13.570
11
LNN001 Lennox-Gastaut Syndrome 61 9.897
12
DRV001 Dravet Syndrome 69 9.085
13
c EPS042 Episodic Ataxia, Type 1 58 7.477
14
PRX015 Paroxysmal Extreme Pain Disorder 56 7.477
15
P BRG001 Brugada Syndrome 69 7.477
16
ADS001 Adiaspiromycosis 29 7.477
17
c LNG044 Long Qt Syndrome 1 66 7.477
18
BLS002 Blastomycosis 47 7.477
19
SPR010 Sporotrichosis 46 7.477
20
P BNG026 Benign Neonatal Seizures 49 7.477
21
P ENC018 Encephalopathy 62 6.915
22
P SZR006 Seizure Disorder 70 6.720
23
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 5.993
24
c INF185 Infantile Epilepsy Syndrome 29 2.995
25
P HYP265 Hypotonia 42 2.787
26
P CLR023 Colorectal Cancer 100 2.692
27
P ATS364 Autism 69 2.485
28
P SYN057 Syndromic Intellectual Disability 38 2.421
29
P NNS031 Non-Syndromic Intellectual Disability 32 2.421
30
TRM010 Traumatic Brain Injury 51 2.372
31
GLL048 Glial Tumor 52 2.372
32
BRN071 Brain Injury 50 2.372
33
GLM045 Glioma 63 2.372
34
AGN016 Aging 54 2.250
35
P RHM011 Rheumatoid Arthritis 82 1.971
36
WST001 West Syndrome 59 1.971
37
P NRB001 Neuroblastoma 66 1.971
38
JVN026 Jeavons Syndrome 21 1.805
39
MCR011 Microinvasive Gastric Cancer 41 1.805
40
FCL014 Focal Epilepsy 53 1.805
41
IMP006 Impulse Control Disorder 45 1.805
42
STT001 Status Epilepticus 59 1.805
43
RNL051 Renal Cysts and Diabetes Syndrome 57 1.608
44
IQS001 Iqsec2 18 1.518
45
RRG006 Rare Genetic Intellectual Disability 26 1.493
46
P RTT002 Rett Syndrome 79 1.386
47
c ATS007 Autism Spectrum Disorder 72 1.386
48
P RCT021 Rectum Cancer 54 1.386
49
BRX001 Bruxism 51 1.239
50
P PNC035 Pancreatic Cancer 86 1.193
51
P SCH015 Schizophrenia 74 0.876
52
URG005 Uruguay Faciocardiomusculoskeletal Syndrome 36 0.876
53
HLT001 Holt-Oram Syndrome 66 0.876
54
c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 24 0.876
55
HLS003 Helsmoortel-Van Der Aa Syndrome 48 0.876
56
ART001 Arterial Tortuosity Syndrome 65 0.876
57
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.876
59
HRT011 Heart Septal Defect 49 0.876
60
GLB002 Glioblastoma 67 0.876
61
c DLT002 Dilated Cardiomyopathy 78 0.876
62
P ATR010 Atrial Heart Septal Defect 58 0.876
63
P HYP086 Hypothyroidism 69 0.876
64
P HRT032 Heart Disease 81 0.876
65
P HYD006 Hydrocephalus 61 0.876
66
CNG034 Congestive Heart Failure 69 0.876
67
P HYP076 Hyperthyroidism 53 0.876
68
P EHL001 Ehlers-Danlos Syndrome 58 0.876
70
P FBR031 Febrile Seizures 52 0.876
71
P BRS047 Breast Cancer 98 0.811
72
BNG006 Benign Familial Neonatal Epilepsy 55 0.732
73
GRW007 Growth Hormone Deficiency 46 0.620
74
P RRT020 Rare Tumor 39 0.620
75
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.620
76
CRD132 Cardiac Conduction Defect 60 0.620
77
c CRN139 Cornelia De Lange Syndrome 1 61 0.620
78
c MJR022 Major Affective Disorder 8 38 0.620
79
APH002 Aphasia 56 0.620
80
P CND005 Cone Dystrophy 47 0.620
81
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.620
82
c MJR024 Major Affective Disorder 9 41 0.620
83
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.620
84
c TBR025 Tuberous Sclerosis 1 84 0.620
85
DNT005 Dentatorubral-Pallidoluysian Atrophy 60 0.620
86
c TYP009 Type 2 Diabetes Mellitus 92 0.620
87
c DVL078 Developmental and Epileptic Encephalopathy 54 27 0.620
88
P PTT014 Pitt-Hopkins Syndrome 64 0.620
89
P DYS154 Dystonia 64 0.620
90
P DBT009 Diabetes Mellitus 67 0.620
91
P MVM001 Movement Disease 61 0.620
92
P BPL003 Bipolar Disorder 56 0.620
93
P ENT005 Entropion 34 0.620
94
P TBR001 Tuberous Sclerosis 69 0.620
95
P LNG028 Long Qt Syndrome 64 0.620
96
GST033 Gestational Diabetes 61 0.620
97
ISL003 Isolated Growth Hormone Deficiency 57 0.620
98
P CRN015 Cornelia De Lange Syndrome 67 0.620
99
c INH020 Inherited Metabolic Disorder 48 0.620
100
LYM006 Lymphoepithelioma-Like Carcinoma 39 0.620
101
P RTN018 Retinal Disease 53 0.620
102
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.620
103
QDR001 Quadriplegia 50 0.620
104
STX004 Stxbp1 Encephalopathy with Epilepsy 15 0.620
105
FRS020 Fars2 Deficiency 8 0.620
107
c HRD198 Hereditary Dystonia 30 0.620
110
EPL170 Epilepsy-Aphasia Spectrum 21 0.620
111
EPL230 Epilepsy with Myoclonic-Atonic Seizures 23 0.620
112
MLG120 Malignant Migrating Partial Seizures of Infancy 43 0.620
113
MYL005 Myelofibrosis 71 0.573
Content
Loading form....