Search results for pax6

120 hits were found for pax6

# Family MCID Name MIFTS Score
1
P ANR048 Aniridia 1 68 5.954
2
CLB003 Coloboma of Optic Nerve 42 4.568
3
KRT019 Keratitis, Hereditary 62 4.309
4
P FVL006 Foveal Hypoplasia 1 23 4.309
5
PTR032 Peters-Plus Syndrome 60 4.293
6
P CLB034 Coloboma, Ocular, Autosomal Dominant 47 4.281
7
c ANT085 Anterior Segment Dysgenesis 5 24 3.990
8
P OPT070 Optic Nerve Hypoplasia, Bilateral 42 3.459
9
MCR013 Microphthalmia 61 3.444
10
CLB010 Coloboma of Macula 52 3.429
11
WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 51 3.378
12
P CTR002 Cataract 60 3.123
13
GLL028 Gillespie Syndrome 33 3.056
14
P CNG024 Congenital Nystagmus 40 2.995
15
P SCH015 Schizophrenia 71 2.946
16
P AXN002 Axenfeld-Rieger Syndrome 53 2.946
17
P MYP006 Myopia 56 2.801
18
KRT008 Keratopathy 44 2.652
19
P MCR010 Microcephaly 57 2.630
20
ISL011 Isolated Aniridia 27 2.630
21
INT060 Intestinal Atresia 42 2.581
22
c CNG513 Congenital Ptosis 35 2.581
23
P WRD001 Waardenburg's Syndrome 57 2.551
24
c GLC097 Glaucoma 3, Primary Congenital, a 51 2.551
25
ECT005 Ectropion 47 2.551
26
LRG003 Large Cell Medulloblastoma 34 2.551
27
P HRD009 Hereditary Wilms' Tumor 46 2.197
28
c WLM018 Wilms Tumor 5 49 2.118
29
P JVN008 Juvenile Glaucoma 41 2.118
30
MRN009 Morning Glory Syndrome 28 2.118
31
ARR002 Arrhinia 11 2.118
32
P RTN008 Retinitis Pigmentosa 81 2.083
33
EWN003 Ewing Sarcoma 72 2.083
34
P MTR004 Maturity-Onset Diabetes of the Young 62 2.083
35
ABL002 Ablepharon-Macrostomia Syndrome 55 2.083
36
PPL048 Papillorenal Syndrome 53 2.083
37
FRS002 Frasier Syndrome 51 2.083
38
STR072 Stromal Keratitis 50 2.083
39
PLN006 Poland Syndrome 50 2.083
40
c AXN009 Axenfeld-Rieger Syndrome, Type 1 49 2.083
41
c ANT077 Anterior Segment Dysgenesis 1 45 2.083
42
FRY006 Fryns Microphthalmia Syndrome 44 2.083
43
VTR005 Vitreous Disease 43 2.083
44
P PRS062 Persistent Hyperplastic Primary Vitreous 41 2.083
45
c HYP753 Hypocalciuric Hypercalcemia, Familial, Type Ii 38 2.083
46
PSD008 Pseudopapilledema 37 2.083
47
LNS003 Lens Disease 37 2.083
48
RTN002 Retinal Perforation 36 2.083
49
PNG001 Pinguecula 35 2.083
50
CHS002 Chiasmal Syndrome 35 2.083
51
PTH003 Pathologic Nystagmus 34 2.083
52
SCL014 Scleral Staphyloma 32 2.083
53
IRS003 Iris Disease 31 2.083
54
CNG005 Congenital Aphakia 30 2.083
55
c ANR047 Aniridia 2 28 2.083
56
CNJ010 Conjunctival Degeneration 24 2.083
57
CLB009 Coloboma of Iris 17 2.083
58
ODN003 O Donnell Pappas Syndrome 7 1.633
59
CLB018 Coloboma of Eyelid 19 1.519
60
CLB008 Coloboma of Eye Lens 18 1.519
61
RTN023 Retinitis 52 0.191
62
P PNC044 Pancreatitis 64 0.156
63
P RTN024 Retinoblastoma 76 0.135
64
P GLM045 Glioma 61 0.135
65
P LNG032 Lung Cancer 99 0.095
66
AGN016 Aging 65 0.095
67
P PTS002 Ptosis 50 0.095
68
NRN002 Neuronitis 43 0.095
69
P BRS047 Breast Cancer 100 0.078
70
GLB002 Glioblastoma 74 0.078
71
P DBT009 Diabetes Mellitus 72 0.078
72
c SML038 Small Cell Cancer of the Lung 67 0.078
73
ISC004 Ischemia 66 0.078
74
ALL026 Allergic Hypersensitivity Disease 59 0.078
75
NRN004 Neuroendocrine Tumor 58 0.078
76
END072 Endotheliitis 46 0.078
77
BRN080 Brain Ischemia 45 0.078
78
CRB009 Cerebritis 41 0.078
79
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.078
80
P CLR023 Colorectal Cancer 98 0.055
81
P ALZ034 Alzheimer Disease 95 0.055
82
P HPT023 Hepatocellular Carcinoma 94 0.055
83
P PNC035 Pancreatic Cancer 89 0.055
84
P PRS040 Prostate Cancer 88 0.055
85
GST053 Gastric Cancer 84 0.055
86
P MDL005 Medulloblastoma 76 0.055
87
P ADN016 Adenocarcinoma 71 0.055
88
P ATS364 Autism 70 0.055
89
P AST007 Astrocytoma 66 0.055
90
c MLG068 Malignant Glioma 66 0.055
91
INS001 Insulinoma 66 0.055
92
ACR006 Aceruloplasminemia 65 0.055
93
P HRS035 Hirschsprung Disease 1 64 0.055
94
PNC033 Pancreas Adenocarcinoma 63 0.055
95
PRS047 Prostatitis 59 0.055
96
P OLG002 Oligodendroglioma 59 0.055
97
P HYP083 Hypopituitarism 59 0.055
98
GLC003 Glucose Intolerance 58 0.055
99
ISL003 Isolated Growth Hormone Deficiency 57 0.055
100
DCT002 Ductal Carcinoma in Situ 56 0.055
101
GRW007 Growth Hormone Deficiency 52 0.055
102
PNC119 Pancreatic Neuroendocrine Tumor 49 0.055
103
P NNT009 Neonatal Diabetes Mellitus 48 0.055
104
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.055
105
CHR100 Chronic Ulcer of Skin 46 0.055
106
SBP004 Subependymoma 46 0.055
107
c WLM011 Wilms Tumor 6 44 0.055
108
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.055
109
CHR078 Chorioretinitis 41 0.055
110
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.055
111
P HYP265 Hypotonia 40 0.055
112
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.055
113
c BLD140 Blood Group, I System 37 0.055
114
PLY024 Polymicrogyria 36 0.055
115
MTC005 Mitochondrial Metabolism Disease 33 0.055
116
c ATR062 Atrial Septal Defect 1 32 0.055
117
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.055
118
TTH030 Teeth, Supernumerary 24 0.055
119
BLD138 Blood Group--Diego System 18 0.055
120
WLM019 Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome 15 0.055
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