Search results for ptch1

103 hits were found for ptch1

# Family MCID Name MIFTS Score
1
BSL036 Basal Cell Nevus Syndrome 65 5.786
2
c BSL007 Basal Cell Carcinoma 65 4.306
3
c HLP011 Holoprosencephaly-7 31 3.854
4
P HLP001 Holoprosencephaly 63 3.733
5
P MDL005 Medulloblastoma 77 3.616
6
SQM006 Squamous Cell Carcinoma 70 3.206
7
AML029 Ameloblastoma 46 3.184
8
FBR054 Fibroma 46 3.184
9
P EMB005 Embryonal Rhabdomyosarcoma 54 3.137
10
P BRC006 Brachydactyly 54 3.137
11
c BSL024 Basal Cell Carcinoma 1 42 2.941
12
CHL018 Childhood Medulloblastoma 47 2.858
13
NRL016 Neural Tube Defects 76 2.833
14
LBR025 Lobar Holoprosencephaly 34 2.833
15
PTZ001 Peutz-Jeghers Syndrome 71 2.806
16
BRN028 Brain Cancer 70 2.806
17
RHB003 Rhabdomyosarcoma 57 2.806
18
THY103 Thyroid Cancer, Monmedullary, 1 53 2.806
19
BRK001 Brooke-Spiegler Syndrome 48 2.806
20
SKN023 Skin Tag 44 2.806
21
SPN221 Spina Bifida Occulta 34 2.806
22
KRT063 Keratocystic Odontogenic Tumor 39 2.557
23
c PTC003 Ptch1-Related Holoprosencephaly 10 2.557
24
9Q2001 9q22.3 Microdeletion 13 2.488
25
SNG010 Single Median Maxillary Central Incisor 52 2.461
26
SML028 Semilobar Holoprosencephaly 37 2.461
27
ALB014 Alobar Holoprosencephaly 35 2.461
28
SPR005 Superficial Basal Cell Carcinoma 34 2.461
29
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 29 2.461
30
SPT016 Septopreoptic Holoprosencephaly 29 2.461
31
CLC010 Calcifying Epithelial Odontogenic Tumor 28 2.461
32
P MNS011 Monosomy 9q22.3 15 2.461
33
BSL013 Basaloid Follicular Hamartoma 13 2.461
34
c MNN043 Meningioma, Familial 59 2.430
35
c MLT025 Multiple Endocrine Neoplasia Iib 56 2.430
36
HMF006 Hemifacial Microsomia 55 2.430
37
FCL009 Focal Dermal Hypoplasia 54 2.430
38
BRT002 Birt-Hogg-Dube Syndrome 52 2.430
39
c BRC078 Brachydactyly, Type A1 45 2.430
40
INF039 Infratentorial Cancer 42 2.430
41
TNC002 Tinea Capitis 40 2.430
42
ATS008 Autosomal Dominant Disease 39 2.430
43
c MLG059 Malignant Struma Ovarii 36 2.430
44
NDL005 Nodular Medulloblastoma 36 2.430
45
ATS009 Autosomal Genetic Disease 35 2.430
46
CRB030 Cerebellum Cancer 35 2.430
47
BRS032 Breast Papillary Carcinoma 34 2.430
48
CRB022 Cerebellar Liponeurocytoma 33 2.430
49
P INT283 Integumentary System Cancer 33 2.430
50
P HRT017 Heart Tumor 32 2.430
51
CRB028 Cerebellar Medulloblastoma 31 2.430
52
NDL009 Nodular Basal Cell Carcinoma 31 2.430
53
PGM002 Pigmented Basal Cell Carcinoma 28 2.430
54
c BSL011 Basal Cell Carcinoma, Multiple 25 2.430
55
VLV002 Vulva Basal Cell Carcinoma 22 2.430
56
HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 18 2.430
57
CHR271 Chromosome 9q Deletion 15 2.430
58
BRN116 Brain Stem Medulloblastoma 13 2.430
59
TST013 Testicular Thecoma 7 2.430
60
MNK003 Muenke Syndrome 60 1.984
61
P NRV006 Nervous System Cancer 60 1.984
62
WST001 West Syndrome 57 1.984
63
P HLL001 Hallermann-Streiff Syndrome 53 1.984
64
c ADL023 Adult Medulloblastoma 51 1.984
65
END035 Endocrine Gland Cancer 49 1.984
66
HRT007 Heart Cancer 46 1.984
67
c BRD044 Bardet-Biedl Syndrome 17 44 1.984
68
HMF008 Hemifacial Atrophy, Progressive 36 1.984
69
P XLN007 X-Linked Disease 34 1.984
70
ORB007 Orbital Cyst 32 1.984
71
P ANG013 Angioma Serpiginosum 31 1.984
72
INF028 Infundibulocystic Basal Cell Carcinoma 27 1.984
73
PRS024 Parasagittal Meningioma 26 1.984
74
CRB032 Cerebral Convexity Meningioma 23 1.984
75
GST053 Gastric Cancer 78 0.082
76
P ADN016 Adenocarcinoma 69 0.082
77
LMY002 Leiomyoma 54 0.082
78
P CRV039 Cervicitis 45 0.082
79
P CLR023 Colorectal Cancer 97 0.058
80
P LNG032 Lung Cancer 95 0.058
81
P HPT023 Hepatocellular Carcinoma 92 0.058
82
P PNC035 Pancreatic Cancer 87 0.058
83
P MLT019 Multiple Myeloma 83 0.058
84
END057 Endometrial Cancer 75 0.058
85
P INF038 Influenza 72 0.058
86
P GLB002 Glioblastoma 68 0.058
87
URN008 Urinary Bladder Cancer 66 0.058
88
DWN001 Down Syndrome 66 0.058
89
P CRN037 Craniosynostosis 66 0.058
90
P AST007 Astrocytoma 65 0.058
91
HMT002 Hematologic Cancer 64 0.058
92
P PNC044 Pancreatitis 61 0.058
93
P ORL007 Oral Cavity Cancer 59 0.058
94
P MCR010 Microcephaly 58 0.058
95
ORL011 Oral Cancer 56 0.058
96
HPT022 Hepatoblastoma 55 0.058
97
P TRT010 Teratoma 52 0.058
98
P PMP005 Pemphigus Vulgaris 51 0.058
99
PMP001 Pemphigus 50 0.058
100
UTR033 Uterine Corpus Cancer 49 0.058
101
P INT063 Intellectual Disability 49 0.058
102
BSL006 Basaloid Squamous Cell Carcinoma 41 0.058
103
OST097 Osteoporotic Fracture 28 0.058
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