Search results for ap1s1

Showing 25 of 45 hits for ap1s1
# Family MCID Name MIFTS Score
1
MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 46 38.117
2
P ICH004 Ichthyosis 54 13.265
3
c CNG478 Congenital Diarrhea 29 12.161
4
c HMC039 Hemochromatosis, Type 1 75 10.737
5
P SNS001 Sensorineural Hearing Loss 59 10.737
6
MNK001 Menkes Disease 64 7.853
7
PLN001 Plantar Wart 35 7.776
8
P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 58 7.592
9
OCC006 Occipital Horn Syndrome 59 7.592
10
PTT059 Pettigrew Syndrome 47 7.592
11
SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 46 7.592
12
P PNC113 Punctate Palmoplantar Keratoderma 26 7.592
13
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 52 7.592
14
c SYN064 Syndromic X-Linked Intellectual Disability 28 7.592
15
P SYN057 Syndromic Intellectual Disability 33 7.592
16
c HMC034 Hemochromatosis, Type 5 41 7.592
17
P HRM001 Hermansky-Pudlak Syndrome 63 7.592
18
P PRP019 Peripheral Nervous System Disease 63 1.671
19
P NRP001 Neuropathy 58 1.671
20
P DRR001 Diarrhea 56 1.424
21
MCR094 Microvillus Inclusion Disease 54 1.424
22
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50 1.424
23
c CNG411 Congenital Disorder of Glycosylation, Type in 67 1.424
24
ESP021 Esophageal Cancer 83 1.334
25
ESP027 Esophagus Squamous Cell Carcinoma 58 1.334
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