Search results for tuba8

74 hits were found for tuba8

# Family MCID Name MIFTS Score
1
PLY050 Polymicrogyria with Optic Nerve Hypoplasia 28 30.561
2
PLY024 Polymicrogyria 46 17.350
3
P MCR010 Microcephaly 59 13.163
4
TKL001 Tukel Syndrome 52 8.258
5
P BND018 Band Heterotopia 53 8.122
6
GLD006 Goldberg-Shprintzen Syndrome 48 8.054
7
CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 40 8.054
8
P PRV002 Periventricular Nodular Heterotopia 52 8.054
9
MLL018 Miller-Dieker Lissencephaly Syndrome 53 7.888
10
CHR659 Chromosome 22q11.2 Duplication Syndrome 41 7.888
11
WLK001 Walker-Warburg Syndrome 62 7.888
12
c CNG031 Congenital Nervous System Abnormality 24 7.888
13
CLP002 Colpocephaly 21 7.888
14
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 1.573
15
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 47 1.375
16
P LSS002 Lissencephaly 53 1.348
17
TBL035 Tubulinopathy 34 1.320
18
c LSS005 Lissencephaly 1 57 1.183
19
OPT070 Optic Nerve Hypoplasia, Bilateral 55 1.086
20
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 1.086
21
P BRS047 Breast Cancer 97 0.811
22
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.807
23
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.772
24
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.772
25
P LNG021 Lung Occult Small Cell Carcinoma 20 0.772
26
P PNC035 Pancreatic Cancer 86 0.573
27
NNL006 Non-Alcoholic Steatohepatitis 54 0.523
28
P CRB045 Cerebellar Hypoplasia 40 0.405
29
PCH002 Pachygyria 32 0.405
30
CNG506 Congenital Amyoplasia 27 0.405
31
P DST002 Distal Arthrogryposis 63 0.331
32
MCR099 Microlissencephaly 39 0.331
33
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 0.287
35
P DVL113 Developmental and Epileptic Encephalopathy 45 0.234
36
CRP032 Corpus Callosum, Agenesis of 49 0.234
37
P ERL057 Early Infantile Epileptic Encephalopathy 61 0.234
38
c LSS009 Lissencephaly 3 39 0.234
39
SCH018 Schizencephaly 52 0.234
40
DGR001 Digeorge Syndrome 62 0.234
41
HRT011 Heart Septal Defect 49 0.234
42
P VNT002 Ventricular Septal Defect 58 0.234
43
c SPR086 Spermatogenic Failure 3 47 0.234
44
P ENC018 Encephalopathy 62 0.234
45
P LSS024 Lissencephaly with Cerebellar Hypoplasia 36 0.234
46
OHT001 Ohtahara Syndrome 39 0.234
47
SPS057 Spasticity 43 0.234
49
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 40 0.166
50
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.166
51
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.166
52
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.166
53
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.166
54
c 2HY001 2-Hydroxyglutaric Aciduria 38 0.166
55
c L2H001 L-2-Hydroxyglutaric Aciduria 49 0.166
56
P SYN057 Syndromic Intellectual Disability 37 0.166
57
P NNS031 Non-Syndromic Intellectual Disability 32 0.166
58
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.166
59
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.166
60
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.166
61
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.166
62
SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 46 0.166
63
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.166
64
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.166
65
c MJR024 Major Affective Disorder 9 40 0.166
66
c MJR022 Major Affective Disorder 8 37 0.166
67
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.166
68
SCH012 Schizoaffective Disorder 49 0.166
69
c HPT016 Hepatitis B 62 0.166
70
c BPL002 Bipolar I Disorder 47 0.166
71
P BPL003 Bipolar Disorder 56 0.166
72
P MGL013 Megalencephaly 46 0.166
73
NRN016 Neuronal Migration Disorders 40 0.166
74
HMM003 Hemimegalencephaly 53 0.166
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