# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
MNT237 |
Mental Retardation with Language Impairment and with or Without Autistic Features |
38 |
17.622 |
|
2 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
3.564 |
|
3 |
|
P
|
ATS364 |
Autism |
70 |
3.315 |
|
4 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
3.011 |
|
5 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
55 |
3.011 |
|
6 |
|
|
LYM129 |
Lymphoma, Mucosa-Associated Lymphoid Type |
64 |
2.702 |
|
7 |
|
|
SPC010 |
Speech and Communication Disorders |
47 |
2.631 |
|
8 |
|
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
2.587 |
|
9 |
|
|
BRR014 |
Barrett Esophagus |
65 |
2.562 |
|
10 |
|
P
|
CNT005 |
Central Nervous System Lymphoma |
53 |
2.562 |
|
11 |
|
P
|
HYP055 |
Hypoplastic Left Heart Syndrome |
63 |
2.534 |
|
12 |
|
|
SPL004 |
Splenic Marginal Zone Lymphoma |
51 |
2.534 |
|
13 |
|
|
SPC005 |
Speech Disorder |
43 |
2.534 |
|
14 |
|
|
BLP004 |
Blepharophimosis |
37 |
2.534 |
|
15 |
|
P
|
JBR020 |
Joubert Syndrome 1 |
72 |
2.501 |
|
16 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
65 |
2.501 |
|
17 |
|
P
|
VNT002 |
Ventricular Septal Defect |
60 |
2.501 |
|
18 |
|
|
RLP008 |
Relapsed/refractory Diffuse Large B-Cell Lymphoma |
31 |
2.501 |
|
19 |
|
|
MRG003 |
Marginal Zone B-Cell Lymphoma |
52 |
1.961 |
|
20 |
|
|
VSL002 |
Visual Epilepsy |
59 |
1.874 |
|
21 |
|
c
|
LKM060 |
Leukemia, Acute Lymphoblastic 3 |
56 |
1.874 |
|
22 |
|
P
|
STR020 |
Strabismus |
55 |
1.846 |
|
23 |
|
c
|
HYP543 |
Hypoplastic Left Heart Syndrome 1 |
40 |
1.846 |
|
24 |
|
|
PLM059 |
Pulmonary Atresia with Ventricular Septal Defect |
29 |
1.846 |
|
25 |
|
|
MTR027 |
Mitral Atresia |
20 |
1.846 |
|
26 |
|
P
|
SPC019 |
Specific Language Impairment |
33 |
1.812 |
|
27 |
|
P
|
PRV006 |
Pervasive Developmental Disorder |
57 |
1.768 |
|
28 |
|
|
TST004 |
Testicular Lymphoma |
39 |
1.768 |
|
29 |
|
c
|
ALP005 |
Alpha Chain Disease |
37 |
1.768 |
|
30 |
|
|
ORB009 |
Orbit Lymphoma |
33 |
1.768 |
|
31 |
|
c
|
BLY009 |
B-Lymphoblastic Leukemia/lymphoma, Bcr-Abl1-Like |
24 |
1.768 |
|
32 |
|
|
SLC002 |
Selective Ige Deficiency Disease |
9 |
1.768 |
|
33 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.275 |
|
34 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
0.198 |
|
35 |
|
|
APR001 |
Apraxia |
52 |
0.129 |
|
36 |
|
P
|
GLM045 |
Glioma |
63 |
0.118 |
|
37 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.118 |
|
38 |
|
|
GLL048 |
Glial Tumor |
45 |
0.118 |
|
39 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.106 |
|
40 |
|
P
|
LKM071 |
Leukemia, Chronic Lymphocytic |
79 |
0.106 |
|
41 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.092 |
|
42 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.092 |
|
43 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.092 |
|
44 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.092 |
|
45 |
|
P
|
FLL037 |
Follicular Lymphoma |
67 |
0.092 |
|
46 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.092 |
|
47 |
|
|
NDL024 |
Nodal Marginal Zone Lymphoma |
38 |
0.092 |
|
48 |
|
|
OVR094 |
Ovarian Epithelial Cancer |
38 |
0.092 |
|
49 |
|
|
CHR178 |
Chromosomal Triplication |
35 |
0.092 |
|
50 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.075 |
|
51 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
0.075 |
|
52 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
78 |
0.075 |
|
53 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.075 |
|
54 |
|
|
END057 |
Endometrial Cancer |
74 |
0.075 |
|
55 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.075 |
|
56 |
|
|
MYL009 |
Myelodysplastic Syndrome |
70 |
0.075 |
|
57 |
|
P
|
MLN008 |
Melanoma |
69 |
0.075 |
|
58 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.075 |
|
59 |
|
|
ATH013 |
Atherosclerosis Susceptibility |
65 |
0.075 |
|
60 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.075 |
|
61 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.075 |
|
62 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.075 |
|
63 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.075 |
|
64 |
|
P
|
VSC013 |
Visceral Heterotaxy |
52 |
0.075 |
|
65 |
|
c
|
PRM226 |
Primary Central Nervous System Lymphoma |
48 |
0.075 |
|
66 |
|
|
ALL014 |
Allergic Encephalomyelitis |
38 |
0.075 |
|
67 |
|
|
SNG003 |
Single Ventricular Heart |
30 |
0.075 |
|
68 |
|
|
ERL050 |
Earlobe Crease |
19 |
0.075 |
|
69 |
|
|
CNG592 |
Congenital Aortic Valve Atresia |
6 |
0.075 |
|
70 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.053 |
|
71 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.053 |
|
72 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.053 |
|
73 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.053 |
|
74 |
|
|
CRV035 |
Cervical Cancer |
76 |
0.053 |
|
75 |
|
c
|
MNN043 |
Meningioma, Familial |
74 |
0.053 |
|
76 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.053 |
|
77 |
|
P
|
HNT016 |
Huntington Disease |
72 |
0.053 |
|
78 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
70 |
0.053 |
|
79 |
|
P
|
SLP006 |
Sleep Apnea |
69 |
0.053 |
|
80 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
69 |
0.053 |
|
81 |
|
|
CHL065 |
Cholangiocarcinoma |
68 |
0.053 |
|
82 |
|
|
SKN019 |
Skin Melanoma |
68 |
0.053 |
|
83 |
|
|
GST092 |
Gastroesophageal Reflux |
67 |
0.053 |
|
84 |
|
|
BRK010 |
Burkitt Lymphoma |
67 |
0.053 |
|
85 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
66 |
0.053 |
|
86 |
|
|
HYP056 |
Hypoglycemia |
66 |
0.053 |
|
87 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.053 |
|
88 |
|
|
PRT036 |
Peritonitis |
64 |
0.053 |
|
89 |
|
|
END041 |
Endometrial Adenocarcinoma |
63 |
0.053 |
|
90 |
|
P
|
END044 |
Endometriosis |
63 |
0.053 |
|
91 |
|
|
MNN042 |
Meningioma, Radiation-Induced |
62 |
0.053 |
|
92 |
|
|
LVR012 |
Liver Cirrhosis |
62 |
0.053 |
|
93 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.053 |
|
94 |
|
|
LNG099 |
Lung Disease |
60 |
0.053 |
|
95 |
|
P
|
VTL004 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
60 |
0.053 |
|
96 |
|
|
SPP011 |
Suppression of Tumorigenicity 12 |
59 |
0.053 |
|
97 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
0.053 |
|
98 |
|
|
DCT002 |
Ductal Carcinoma in Situ |
59 |
0.053 |
|
99 |
|
|
ADN018 |
Adenoma |
59 |
0.053 |
|
100 |
|
|
HLC007 |
Helicobacter Pylori Infection |
59 |
0.053 |
|
101 |
|
|
CSY001 |
C Syndrome |
58 |
0.053 |
|
102 |
|
P
|
GLL018 |
Gallbladder Cancer |
57 |
0.053 |
|
|
104 |
|
|
HYP266 |
Hypoxia |
57 |
0.053 |
|
105 |
|
|
AGN016 |
Aging |
56 |
0.053 |
|
106 |
|
|
CLR030 |
Clear Cell Renal Cell Carcinoma |
53 |
0.053 |
|
107 |
|
P
|
INS002 |
in Situ Carcinoma |
53 |
0.053 |
|
108 |
|
|
PRP036 |
Peripheral T-Cell Lymphoma |
53 |
0.053 |
|
109 |
|
c
|
FML008 |
Familial Retinoblastoma |
53 |
0.053 |
|
110 |
|
c
|
MCR113 |
Microvascular Complications of Diabetes 3 |
52 |
0.053 |
|
111 |
|
c
|
MLN055 |
Melanoma, Cutaneous Malignant 10 |
52 |
0.053 |
|
112 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.053 |
|
113 |
|
|
PLS009 |
Plasma Cell Neoplasm |
51 |
0.053 |
|
114 |
|
|
INT079 |
Intrahepatic Cholangiocarcinoma |
51 |
0.053 |
|
115 |
|
|
ACH005 |
Achalasia |
51 |
0.053 |
|
116 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.053 |
|
117 |
|
|
SPN021 |
Spinal Meningioma |
50 |
0.053 |
|
118 |
|
|
HYP748 |
Hypertelorism |
50 |
0.053 |
|
119 |
|
|
HRT011 |
Heart Septal Defect |
50 |
0.053 |
|
120 |
|
|
BNR002 |
Bone Resorption Disease |
48 |
0.053 |
|
121 |
|
|
MNC006 |
Monoclonal Gammopathy of Uncertain Significance |
48 |
0.053 |
|
122 |
|
|
END062 |
Endometrial Hyperplasia |
48 |
0.053 |
|
123 |
|
|
LRY029 |
Laryngomalacia |
47 |
0.053 |
|
124 |
|
c
|
MCR120 |
Microvascular Complications of Diabetes 7 |
47 |
0.053 |
|
125 |
|
|
AML029 |
Ameloblastoma |
46 |
0.053 |
|
126 |
|
P
|
MGL013 |
Megalencephaly |
45 |
0.053 |
|
127 |
|
|
BRN032 |
Brain Glioma |
45 |
0.053 |
|
128 |
|
|
MLC004 |
Mulchandani-Bhoj-Conlin Syndrome |
44 |
0.053 |
|
129 |
|
P
|
CHR345 |
Chronic Pain |
44 |
0.053 |
|
130 |
|
c
|
PCH010 |
Pachyonychia Congenita 3 |
44 |
0.053 |
|
131 |
|
|
CHL109 |
Childhood Apraxia of Speech |
44 |
0.053 |
|
132 |
|
|
GLC086 |
Glucocorticoid-Induced Osteoporosis |
43 |
0.053 |
|
133 |
|
|
PRS042 |
Prostate Disease |
43 |
0.053 |
|
134 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
0.053 |
|
135 |
|
c
|
BDY007 |
Body Mass Index Quantitative Trait Locus 1 |
42 |
0.053 |
|
136 |
|
c
|
VTL009 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
42 |
0.053 |
|
137 |
|
c
|
MCR130 |
Microvascular Complications of Diabetes 6 |
41 |
0.053 |
|
138 |
|
c
|
MCR133 |
Microvascular Complications of Diabetes 4 |
41 |
0.053 |
|
139 |
|
P
|
SYN057 |
Syndromic Intellectual Disability |
41 |
0.053 |
|
140 |
|
c
|
PRM163 |
Primary Mediastinal Large B-Cell Lymphoma |
41 |
0.053 |
|
141 |
|
|
SCR001 |
Secretory Meningioma |
41 |
0.053 |
|
142 |
|
|
MCR237 |
Macrocephaly/megalencephaly Syndrome, Autosomal Recessive |
40 |
0.053 |
|
143 |
|
|
HYP264 |
Hypertonia |
38 |
0.053 |
|
144 |
|
|
CRP035 |
Corpus Callosum, Partial Agenesis of, X-Linked |
38 |
0.053 |
|
145 |
|
|
LYM002 |
Lymphoplasmacyte-Rich Meningioma |
36 |
0.053 |
|
146 |
|
|
PRM329 |
Premature Aging |
35 |
0.053 |
|
147 |
|
|
NNS045 |
Non-Specific Syndromic Intellectual Disability |
31 |
0.053 |
|
148 |
|
|
PRM128 |
Primary Cutaneous Follicle Center Lymphoma |
25 |
0.053 |
|
149 |
|
|
NRN023 |
Neuroendocrine Cell Hyperplasia of Infancy |
18 |
0.053 |
|