Search results for eya1

86 hits were found for eya1

# Family MCID Name MIFTS Score
1
P BRN042 Branchiootic Syndrome 44 6.368
2
P OTF004 Otofaciocervical Syndrome 1 37 5.893
3
c BRN131 Branchiootorenal Syndrome 1 44 5.433
4
c BRN108 Branchiootic Syndrome 1 62 5.259
5
P BRN006 Branchiootorenal Syndrome 46 4.247
6
P CTR002 Cataract 60 3.328
7
RRG078 Rare Genetic Deafness 29 2.853
8
BRN003 Branchiooculofacial Syndrome 51 2.846
9
P KDN018 Kidney Disease 72 2.425
10
RNL025 Renal Hypoplasia 42 2.398
11
MCR013 Microphthalmia 57 2.297
12
c FRS014 Fraser Syndrome 1 56 2.297
13
P TWN003 Townes-Brocks Syndrome 55 2.297
14
c MLG077 Malignant Peripheral Nerve Sheath Tumor 54 2.297
15
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 51 2.297
16
CKT002 Cakut 48 2.297
17
P SYN165 Syndromic Microphthalmia 35 2.297
18
c BRN138 Branchiootorenal Spectrum Disorder 21 1.929
19
ERM002 Ear Malformation 39 1.803
20
c DFN107 Deafness, Autosomal Dominant 10 41 1.715
21
P RNL100 Renal Hypodysplasia/aplasia 1 63 1.675
22
LRY029 Laryngomalacia 47 1.675
23
c BRN086 Branchiootorenal Syndrome 2 32 1.675
24
P RTN008 Retinitis Pigmentosa 79 1.624
25
c WLM013 Wilms Tumor 1 65 1.624
26
P ANR048 Aniridia 1 63 1.624
27
P AXN002 Axenfeld-Rieger Syndrome 59 1.624
28
PPL048 Papillorenal Syndrome 58 1.624
29
c VSC019 Vesicoureteral Reflux 1 57 1.624
30
P URF003 Urofacial Syndrome 1 57 1.624
31
CLB010 Coloboma of Macula 52 1.624
32
P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 52 1.624
33
c AXN010 Axenfeld-Rieger Syndrome, Type 3 49 1.624
34
P ORF002 Orofacial Cleft 44 1.624
35
c DFN036 Deafness, X-Linked 2 44 1.624
36
c CRD102 Cardiomyopathy, Dilated, 1j 41 1.624
37
OLG021 Oligomeganephronia 33 1.624
38
c ORF048 Orofacial Cleft 1 29 1.624
39
c XLN004 X-Linked Nonsyndromic Deafness 28 1.624
40
LCR001 Lacrimal Duct Obstruction 26 1.624
41
c ATS005 Autosomal Dominant Nonsyndromic Deafness 26 1.624
42
HRD199 Hereditary Hearing Loss and Deafness 21 1.624
43
BRN125 Branchiogenic-Deafness Syndrome 20 1.624
44
BLT024 Bilateral Renal Aplasia 18 1.624
45
BRN121 Branchiootorenal/branchiootic Syndrome 24 0.327
46
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.231
47
HLX001 Helix Syndrome 47 0.107
48
P PRS040 Prostate Cancer 97 0.087
49
P NRB001 Neuroblastoma 72 0.087
50
MCR103 Microtia 43 0.087
51
P HPT023 Hepatocellular Carcinoma 100 0.062
52
P CLR023 Colorectal Cancer 99 0.062
53
P MDL005 Medulloblastoma 77 0.062
54
OTT002 Otitis Media 72 0.062
55
P MLN008 Melanoma 69 0.062
56
CLF027 Cleft Palate, Isolated 64 0.062
57
DGR001 Digeorge Syndrome 64 0.062
58
c DPH024 Diaphragmatic Hernia, Congenital 63 0.062
59
ESP020 Esophageal Atresia 62 0.062
60
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.062
61
P SNS001 Sensorineural Hearing Loss 60 0.062
62
HYD002 Hydronephrosis 60 0.062
63
THY029 Thyroid Carcinoma 59 0.062
64
P INF032 Infertility 57 0.062
65
CMM005 Common Cold 57 0.062
66
c THY109 Thyroid Cancer, Nonmedullary, 1 56 0.062
67
HMF006 Hemifacial Microsomia 55 0.062
68
P MLN007 Male Infertility 55 0.062
69
P MYP006 Myopia 55 0.062
70
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.062
71
P HYP040 Hypospadias 51 0.062
72
END086 End Stage Renal Disease 51 0.062
73
P OMP004 Omphalocele 50 0.062
74
PCT003 Pectus Excavatum 49 0.062
75
JNT004 Joint Laxity, Short Stature, and Myopia 45 0.062
76
c STC015 Stickler Syndrome, Type I 40 0.062
77
c DNR003 Duane Retraction Syndrome 1 38 0.062
78
PST092 Posttransplant Acute Limbic Encephalitis 29 0.062
79
c BRN128 Branchiootic Syndrome 3 29 0.062
80
c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 29 0.062
81
CRN051 Craniofacial Microsomia 28 0.062
82
c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28 0.062
83
CYL001 Cayler Cardiofacial Syndrome 28 0.062
84
c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 26 0.062
85
NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 18 0.062
86
BRN050 Branchial Arch Defects 10 0.062
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