Search results for ptch1

103 hits were found for ptch1

# Family MCID Name MIFTS Score
1
BSL036 Basal Cell Nevus Syndrome 65 11.192
2
P HLP001 Holoprosencephaly 66 5.730
3
c BSL007 Basal Cell Carcinoma 64 4.532
4
c HLP027 Holoprosencephaly 7 30 4.349
5
P MDL005 Medulloblastoma 75 3.482
6
SQM006 Squamous Cell Carcinoma 59 3.007
7
AML029 Ameloblastoma 50 2.984
8
P EMB005 Embryonal Rhabdomyosarcoma 55 2.959
9
P BRC006 Brachydactyly 50 2.932
10
CHL018 Childhood Medulloblastoma 48 2.597
11
c BSL011 Basal Cell Carcinoma, Multiple 34 2.597
12
NRL016 Neural Tube Defects 78 2.570
13
P RHB003 Rhabdomyosarcoma 56 2.570
14
LBR025 Lobar Holoprosencephaly 35 2.570
15
BRN028 Brain Cancer 72 2.539
16
THY028 Thyroid Cancer 66 2.539
17
BRK001 Brooke-Spiegler Syndrome 44 2.539
18
SKN023 Skin Tag 42 2.539
19
ATS008 Autosomal Dominant Disease 39 2.539
20
SPN221 Spina Bifida Occulta 34 2.539
21
KRT063 Keratocystic Odontogenic Tumor 42 2.216
22
BSL013 Basaloid Follicular Hamartoma 14 2.141
23
9Q2001 9q22.3 Microdeletion 12 2.141
24
P HRS035 Hirschsprung Disease 1 62 2.110
25
SPR005 Superficial Basal Cell Carcinoma 40 2.110
26
CLC010 Calcifying Epithelial Odontogenic Tumor 31 2.110
27
P XRD010 Xeroderma Pigmentosum, Variant Type 68 2.073
28
c MNN043 Meningioma, Familial 60 2.073
29
MNK003 Muenke Syndrome 59 2.073
30
c MLT159 Multiple Endocrine Neoplasia, Type Iib 58 2.073
31
FCL009 Focal Dermal Hypoplasia 57 2.073
32
c ADL023 Adult Medulloblastoma 54 2.073
33
BRT002 Birt-Hogg-Dube Syndrome 53 2.073
34
c BRC078 Brachydactyly, Type A1 47 2.073
35
c BRD044 Bardet-Biedl Syndrome 17 45 2.073
36
PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 45 2.073
37
MLT152 Multiple Self-Healing Squamous Epithelioma 43 2.073
38
c MLG059 Malignant Struma Ovarii 39 2.073
39
INF039 Infratentorial Cancer 37 2.073
40
CRB022 Cerebellar Liponeurocytoma 36 2.073
41
NDL009 Nodular Basal Cell Carcinoma 35 2.073
42
NDL005 Nodular Medulloblastoma 33 2.073
43
HLP004 Holoprosencephaly, Recurrent Infections, and Monocytosis 33 2.073
44
INT283 Integumentary System Cancer 31 2.073
45
BRS032 Breast Papillary Carcinoma 30 2.073
46
ATS009 Autosomal Genetic Disease 30 2.073
47
P HRT017 Heart Tumor 29 2.073
48
PGM002 Pigmented Basal Cell Carcinoma 26 2.073
49
VLV002 Vulva Basal Cell Carcinoma 25 2.073
50
CHR271 Chromosome 9q Deletion 15 2.073
51
TST013 Testicular Thecoma 8 2.073
52
BRN116 Brain Stem Medulloblastoma 6 2.073
53
c BSL024 Basal Cell Carcinoma 1 35 2.005
54
SML028 Semilobar Holoprosencephaly 37 1.514
55
ALB014 Alobar Holoprosencephaly 36 1.514
56
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 36 1.514
57
MCR173 Microform Holoprosencephaly 34 1.514
58
SPT016 Septopreoptic Holoprosencephaly 31 1.514
59
P MNS011 Monosomy 9q22.3 21 1.514
60
NRV006 Nervous System Cancer 60 1.466
61
WST001 West Syndrome 57 1.466
62
END035 Endocrine Gland Cancer 49 1.466
63
P HRT032 Heart Disease 74 0.116
64
PTR032 Peters-Plus Syndrome 62 0.116
65
HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 56 0.116
66
LMY014 Leiomyoma, Uterine 53 0.116
67
c ANT085 Anterior Segment Dysgenesis 5 24 0.116
68
GST053 Gastric Cancer 77 0.082
69
P ADN016 Adenocarcinoma 70 0.082
70
c WLM018 Wilms Tumor 5 60 0.082
71
LMY002 Leiomyoma 57 0.082
72
P CRV039 Cervicitis 49 0.082
73
c WLM011 Wilms Tumor 6 38 0.082
74
P LNG032 Lung Cancer 98 0.058
75
P CLR023 Colorectal Cancer 97 0.058
76
P HPT023 Hepatocellular Carcinoma 94 0.058
77
MYL069 Myeloma, Multiple 83 0.058
78
P PNC035 Pancreatic Cancer 79 0.058
79
P INF038 Influenza 76 0.058
80
GLB002 Glioblastoma 72 0.058
81
DWN001 Down Syndrome 69 0.058
82
c SML038 Small Cell Cancer of the Lung 68 0.058
83
P MYL006 Myeloid Leukemia 68 0.058
84
P CRN037 Craniosynostosis 67 0.058
85
END057 Endometrial Cancer 65 0.058
86
P PNC044 Pancreatitis 64 0.058
87
HMT002 Hematologic Cancer 63 0.058
88
c OVR114 Ovarian Cancer 1 62 0.058
89
P MCR010 Microcephaly 57 0.058
90
P SZR006 Seizure Disorder 56 0.058
91
P PMP005 Pemphigus Vulgaris 55 0.058
92
HPT022 Hepatoblastoma 55 0.058
93
SPP010 Suppressor of Tumorigenicity 3 54 0.058
94
P PMP001 Pemphigus 54 0.058
95
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.058
96
P TRT010 Teratoma 52 0.058
97
UTR033 Uterine Corpus Cancer 51 0.058
98
P AST007 Astrocytoma 51 0.058
99
NRL018 Neural Tube Defects, Folate-Sensitive 44 0.058
100
BSL006 Basaloid Squamous Cell Carcinoma 42 0.058
101
OST097 Osteoporotic Fracture 41 0.058
102
c PMP006 Pemphigus Vulgaris, Familial 28 0.058
103
LMB009 Lambdoid Synostosis 19 0.058
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