Search results for ptch1

98 hits were found for ptch1

# Family MCID Name MIFTS Score
1
BSL036 Basal Cell Nevus Syndrome 67 6.205
2
c BSL007 Basal Cell Carcinoma 66 4.552
3
c HLP027 Holoprosencephaly 7 30 4.293
4
P HLP001 Holoprosencephaly 67 3.922
5
P MDL005 Medulloblastoma 76 3.489
6
SQM006 Squamous Cell Carcinoma 74 3.024
7
AML029 Ameloblastoma 51 3.001
8
P EMB005 Embryonal Rhabdomyosarcoma 54 2.976
9
CHL018 Childhood Medulloblastoma 51 2.613
10
c BSL011 Basal Cell Carcinoma, Multiple 34 2.613
11
NRL016 Neural Tube Defects 79 2.585
12
P RHB003 Rhabdomyosarcoma 61 2.585
13
LBR025 Lobar Holoprosencephaly 36 2.585
14
THY028 Thyroid Cancer 72 2.553
15
BRN028 Brain Cancer 72 2.553
16
P THY109 Thyroid Cancer, Nonmedullary, 1 64 2.553
17
BRK001 Brooke-Spiegler Syndrome 45 2.553
18
SKN023 Skin Tag 41 2.553
19
ATS008 Autosomal Dominant Disease 39 2.553
20
SPN221 Spina Bifida Occulta 34 2.553
21
KRT063 Keratocystic Odontogenic Tumor 43 2.230
22
BSL013 Basaloid Follicular Hamartoma 15 2.154
23
9Q2001 9q22.3 Microdeletion 12 2.154
24
c MNN043 Meningioma, Familial 69 2.122
25
SPR005 Superficial Basal Cell Carcinoma 40 2.122
26
CLC010 Calcifying Epithelial Odontogenic Tumor 31 2.122
27
MNK003 Muenke Syndrome 60 2.085
28
FCL009 Focal Dermal Hypoplasia 57 2.085
29
c MLT159 Multiple Endocrine Neoplasia, Type Iib 56 2.085
30
BRT002 Birt-Hogg-Dube Syndrome 54 2.085
31
c ADL023 Adult Medulloblastoma 53 2.085
32
c BRC078 Brachydactyly, Type A1 49 2.085
33
c BRD044 Bardet-Biedl Syndrome 17 46 2.085
34
c PLY146 Polycystic Liver Disease 1 45 2.085
35
MLT152 Multiple Self-Healing Squamous Epithelioma 44 2.085
36
c MLG059 Malignant Struma Ovarii 38 2.085
37
INF039 Infratentorial Cancer 38 2.085
38
CRB022 Cerebellar Liponeurocytoma 36 2.085
39
NDL009 Nodular Basal Cell Carcinoma 36 2.085
40
NDL005 Nodular Medulloblastoma 33 2.085
41
P INT283 Integumentary System Cancer 33 2.085
42
P HRT017 Heart Tumor 32 2.085
43
HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 32 2.085
44
BRS032 Breast Papillary Carcinoma 31 2.085
45
ATS009 Autosomal Genetic Disease 31 2.085
46
CRB030 Cerebellum Cancer 28 2.085
47
PGM002 Pigmented Basal Cell Carcinoma 28 2.085
48
VLV002 Vulva Basal Cell Carcinoma 25 2.085
49
CHR271 Chromosome 9q Deletion 15 2.085
50
TST013 Testicular Thecoma 7 2.085
51
BRN116 Brain Stem Medulloblastoma 6 2.085
52
c BSL024 Basal Cell Carcinoma 1 42 2.011
53
SML028 Semilobar Holoprosencephaly 38 1.523
54
ALB014 Alobar Holoprosencephaly 37 1.523
55
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 36 1.523
56
MCR173 Microform Holoprosencephaly 34 1.523
57
SPT016 Septopreoptic Holoprosencephaly 31 1.523
58
P MNS011 Monosomy 9q22.3 21 1.523
59
NRV006 Nervous System Cancer 61 1.474
60
WST001 West Syndrome 57 1.474
61
END035 Endocrine Gland Cancer 48 1.474
62
GST053 Gastric Cancer 84 0.083
63
P ADN016 Adenocarcinoma 71 0.083
64
LMY002 Leiomyoma 58 0.083
65
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.083
66
P CRV039 Cervicitis 49 0.083
67
c WLM018 Wilms Tumor 5 49 0.083
68
c WLM011 Wilms Tumor 6 44 0.083
69
P LNG032 Lung Cancer 99 0.059
70
P CLR023 Colorectal Cancer 98 0.059
71
P HPT023 Hepatocellular Carcinoma 94 0.059
72
P PNC035 Pancreatic Cancer 89 0.059
73
MYL069 Myeloma, Multiple 86 0.059
74
c LKM063 Leukemia, Chronic Myeloid 80 0.059
75
P INF038 Influenza 77 0.059
76
END057 Endometrial Cancer 76 0.059
77
P LKM002 Leukemia 75 0.059
78
GLB002 Glioblastoma 74 0.059
79
DWN001 Down Syndrome 70 0.059
80
P MYL006 Myeloid Leukemia 69 0.059
81
P CRN037 Craniosynostosis 68 0.059
82
c SML038 Small Cell Cancer of the Lung 67 0.059
83
P AST007 Astrocytoma 66 0.059
84
P HRS035 Hirschsprung Disease 1 64 0.059
85
P PNC044 Pancreatitis 64 0.059
86
P MCR010 Microcephaly 57 0.059
87
P PMP005 Pemphigus Vulgaris 56 0.059
88
HPT022 Hepatoblastoma 55 0.059
89
P PMP001 Pemphigus 55 0.059
90
SPP010 Suppressor of Tumorigenicity 3 55 0.059
91
c OVR114 Ovarian Cancer 1 54 0.059
92
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.059
93
P TRT010 Teratoma 53 0.059
94
UTR033 Uterine Corpus Cancer 51 0.059
95
NRL018 Neural Tube Defects, Folate-Sensitive 44 0.059
96
BSL006 Basaloid Squamous Cell Carcinoma 43 0.059
97
OST097 Osteoporotic Fracture 41 0.059
98
c PMP006 Pemphigus Vulgaris, Familial 26 0.059
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