Search results for upf3b

50 hits were found for upf3b

# Family MCID Name MIFTS Score
1
XLN235 X-Linked Intellectual Disability with Marfanoid Habitus 28 44.487
2
P NNS032 Non-Syndromic X-Linked Intellectual Disability 46 17.132
3
P ATS364 Autism 72 14.354
4
DSS008 Disease of Mental Health 74 13.808
5
P MCR010 Microcephaly 59 13.380
6
OPT054 Opitz-Kaveggia Syndrome 52 9.070
7
FRY002 Fryns Syndrome 39 8.305
8
MTP025 Metaphyseal Chondrodysplasia, Schmid Type 54 8.129
9
c SPR127 Spermatogenic Failure 24 23 8.129
10
PNC127 Pancreatic Adenosquamous Carcinoma 34 8.129
11
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 5.911
12
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 2.789
13
P ATT013 Attention Deficit-Hyperactivity Disorder 66 2.000
14
P SCH015 Schizophrenia 74 1.772
15
CHL078 Childhood-Onset Schizophrenia 29 1.772
16
c ATS007 Autism Spectrum Disorder 72 1.666
17
P CTR002 Cataract 59 1.634
18
SPC005 Speech Disorder 46 1.414
19
GLS018 Glass Syndrome 60 1.270
21
P HMP007 Hemophilia 52 1.198
22
c SYN082 Syndromic X-Linked Intellectual Disability 14 22 1.116
23
c NNS090 Non-Syndromic X-Linked Intellectual Disability 82 8 1.109
24
CNS004 Constipation 56 1.053
25
RNL078 Renal Dysplasia 46 1.053
26
P PNC035 Pancreatic Cancer 86 0.602
27
THR009 Thrombocytopenia-Absent Radius Syndrome 53 0.352
28
P CLR023 Colorectal Cancer 100 0.305
29
P HPT023 Hepatocellular Carcinoma 95 0.305
30
c SCH082 Schizophrenia 5 23 0.249
31
ANX010 Anxiety 70 0.249
32
MRF001 Marfan Syndrome 76 0.176
33
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.176
34
ACR017 Acrofacial Dysostosis 30 0.176
35
CHR174 Christianson Syndrome 47 0.176
36
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 68 0.176
37
PHL006 Phelan-Mcdermid Syndrome 62 0.176
38
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 36 0.176
39
INT369 Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type 25 0.176
40
INT371 Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type 22 0.176
41
CHL065 Cholangiocarcinoma 58 0.176
42
DYS018 Dysostosis 43 0.176
43
INT079 Intrahepatic Cholangiocarcinoma 51 0.176
44
P LTR001 Lateral Sclerosis 58 0.176
45
INT372 Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type 32 0.176
46
GLM045 Glioma 62 0.176
47
GLL048 Glial Tumor 52 0.176
48
P BLR006 Biliary Tract Disease 46 0.176
49
P MSC005 Muscular Dystrophy 66 0.176
50
IQS001 Iqsec2 19 0.176
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