# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
P
|
THP004 |
Thiopurines, Poor Metabolism of, 1 |
42 |
60.564 |
|
2 |
|
|
THP001 |
Thiopurine S Methyltranferase Deficiency |
20 |
55.575 |
|
3 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
53 |
33.095 |
|
4 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
32.137 |
|
5 |
|
P
|
NTR004 |
Neutropenia |
63 |
30.776 |
|
6 |
|
|
ULC004 |
Ulcerative Colitis |
74 |
23.607 |
|
7 |
|
|
CRH001 |
Crohn's Disease |
80 |
22.946 |
|
8 |
|
|
CHL152 |
Childhood Acute Lymphocytic Leukemia |
50 |
20.986 |
|
9 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
20.126 |
|
10 |
|
|
PNC001 |
Pancytopenia |
53 |
19.139 |
|
11 |
|
c
|
ATM011 |
Autoimmune Hepatitis |
63 |
18.887 |
|
12 |
|
|
ATM095 |
Autoimmune Disease |
61 |
18.338 |
|
13 |
|
P
|
DRM053 |
Dermatitis, Atopic |
65 |
14.112 |
|
14 |
|
P
|
LKM002 |
Leukemia |
67 |
12.416 |
|
15 |
|
|
HPT046 |
Hepatic Veno-Occlusive Disease |
62 |
11.463 |
|
16 |
|
P
|
APL001 |
Aplastic Anemia |
73 |
10.895 |
|
17 |
|
|
GLB001 |
Gilbert Syndrome |
53 |
10.327 |
|
18 |
|
|
CMR002 |
Coumarin Resistance |
59 |
10.327 |
|
19 |
|
|
DRG024 |
Drug Allergy |
40 |
10.327 |
|
20 |
|
|
NDL013 |
Nodular Regenerative Hyperplasia |
46 |
9.098 |
|
21 |
|
|
PDT027 |
Pediatric Ulcerative Colitis |
27 |
7.976 |
|
22 |
|
|
GST090 |
Gastroduodenal Crohn's Disease |
30 |
7.302 |
|
23 |
|
|
SVR097 |
Severe Cutaneous Adverse Reaction |
69 |
7.302 |
|
24 |
|
c
|
PLY008 |
Polyneuropathy Due to Drug |
19 |
7.302 |
|
25 |
|
|
ANR003 |
Anorectal Stricture |
32 |
7.302 |
|
26 |
|
P
|
THR014 |
Thrombocytopenia |
66 |
6.396 |
|
27 |
|
|
CLT003 |
Colitis |
63 |
6.020 |
|
28 |
|
c
|
SYS001 |
Systemic Lupus Erythematosus |
87 |
5.602 |
|
29 |
|
P
|
LPS004 |
Lupus Erythematosus |
61 |
5.602 |
|
30 |
|
P
|
PMP001 |
Pemphigus |
55 |
5.379 |
|
31 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
5.183 |
|
32 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
4.433 |
|
33 |
|
|
CRH005 |
Crohn's Colitis |
53 |
4.421 |
|
34 |
|
|
PMP006 |
Pemphigus Vulgaris, Familial |
58 |
4.313 |
|
35 |
|
P
|
MYS003 |
Myasthenia Gravis |
68 |
4.034 |
|
36 |
|
P
|
ALP008 |
Alopecia |
54 |
4.034 |
|
37 |
|
P
|
VSC011 |
Vasculitis |
61 |
3.958 |
|
38 |
|
P
|
MYL006 |
Myeloid Leukemia |
61 |
3.785 |
|
39 |
|
P
|
LVR013 |
Liver Disease |
69 |
3.162 |
|
40 |
|
|
BRN028 |
Brain Cancer |
74 |
3.111 |
|
41 |
|
|
NRM001 |
Neuromyelitis Optica |
61 |
3.078 |
|
42 |
|
|
UND004 |
Undetermined Colitis |
22 |
3.016 |
|
43 |
|
|
URM002 |
Uremia |
47 |
2.951 |
|
44 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
76 |
2.946 |
|
45 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
66 |
2.946 |
|
46 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
82 |
2.840 |
|
47 |
|
|
DRM006 |
Dermatitis |
62 |
2.840 |
|
48 |
|
|
ANC002 |
Anca-Associated Vasculitis |
44 |
2.837 |
|
49 |
|
P
|
EXN002 |
Exanthem |
58 |
2.782 |
|
50 |
|
P
|
BLY001 |
B-Lymphoblastic Leukemia/lymphoma |
52 |
2.722 |
|
51 |
|
c
|
VRL010 |
Viral Hepatitis |
53 |
2.664 |
|
52 |
|
|
PRM236 |
Primary Biliary Cholangitis |
60 |
2.664 |
|
53 |
|
|
GRN017 |
Granulocytopenia |
42 |
2.664 |
|
54 |
|
|
DHY002 |
Dihydropyrimidine Dehydrogenase Deficiency |
57 |
2.558 |
|
55 |
|
|
CHL061 |
Childhood Leukemia |
47 |
2.540 |
|
56 |
|
|
PMP014 |
Pemphigoid |
51 |
2.476 |
|
57 |
|
|
BLL006 |
Bullous Pemphigoid |
61 |
2.342 |
|
58 |
|
|
PRT013 |
Portal Hypertension |
59 |
2.342 |
|
59 |
|
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
2.280 |
|
60 |
|
|
PRS021 |
Prostatic Adenoma |
43 |
2.280 |
|
61 |
|
|
PRS045 |
Prostatic Hypertrophy |
53 |
2.280 |
|
62 |
|
|
47X002 |
47,xyy |
48 |
2.272 |
|
63 |
|
|
SKN016 |
Skin Disease |
63 |
2.272 |
|
64 |
|
|
LVR012 |
Liver Cirrhosis |
63 |
2.272 |
|
65 |
|
P
|
ART022 |
Arthritis |
71 |
2.200 |
|
66 |
|
|
MYL009 |
Myelodysplastic Syndrome |
67 |
2.177 |
|
67 |
|
|
DFC004 |
Deficiency Anemia |
74 |
2.177 |
|
68 |
|
P
|
PNC044 |
Pancreatitis |
61 |
2.125 |
|
69 |
|
P
|
MDL005 |
Medulloblastoma |
75 |
1.944 |
|
70 |
|
|
GRM010 |
Germ Cells Tumors |
33 |
1.944 |
|
71 |
|
|
LYM027 |
Lymphopenia |
56 |
1.884 |
|
72 |
|
|
ENT004 |
Enthesopathy |
51 |
1.884 |
|
73 |
|
|
IRN001 |
Iron Deficiency Anemia |
58 |
1.810 |
|
74 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
1.810 |
|
75 |
|
|
IRN002 |
Iron Metabolism Disease |
57 |
1.810 |
|
76 |
|
|
STM007 |
Stomatitis |
54 |
1.810 |
|
77 |
|
|
SPN362 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
42 |
1.796 |
|
78 |
|
|
CHL068 |
Cholestasis |
61 |
1.796 |
|
79 |
|
P
|
ASP006 |
Aspergillosis |
72 |
1.704 |
|
80 |
|
|
HLX001 |
Helix Syndrome |
48 |
1.704 |
|
81 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
33 |
1.658 |
|
82 |
|
|
PMP004 |
Pemphigus Foliaceus |
43 |
1.658 |
|
83 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
1.658 |
|
84 |
|
P
|
RNG032 |
Ring Chromosome |
39 |
1.658 |
|
85 |
|
|
ACT113 |
Acute Myeloblastic Leukemia with Maturation |
46 |
1.658 |
|
86 |
|
c
|
RNG022 |
Ring Chromosome 6 |
28 |
1.658 |
|
87 |
|
P
|
TMR010 |
Tumor Predisposition Syndrome |
67 |
1.606 |
|
88 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
80 |
1.606 |
|
89 |
|
|
MCS002 |
Mucositis |
56 |
1.606 |
|
90 |
|
|
BNG077 |
Benign Idiopathic Neonatal Seizures |
23 |
1.503 |
|
91 |
|
|
SPL018 |
Splenomegaly |
49 |
1.503 |
|
92 |
|
P
|
LYM118 |
Lymphoma |
67 |
1.499 |
|
93 |
|
|
PSR001 |
Psoriatic Arthritis |
62 |
1.477 |
|
94 |
|
|
PRT251 |
Proteinuria, Chronic Benign |
57 |
1.477 |
|
95 |
|
P
|
HRP006 |
Herpes Simplex |
65 |
1.477 |
|
96 |
|
|
HPT022 |
Hepatoblastoma |
54 |
1.477 |
|
97 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
1.391 |
|
98 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
1.391 |
|
99 |
|
|
PMP010 |
Pompholyx |
34 |
1.391 |
|
100 |
|
|
ADN018 |
Adenoma |
59 |
1.391 |
|
101 |
|
c
|
WLF013 |
Wolfram Syndrome 1 |
60 |
1.270 |
|
102 |
|
c
|
SCL052 |
Scleroderma, Familial Progressive |
61 |
1.270 |
|
103 |
|
|
HMC014 |
Homocysteinemia |
52 |
1.270 |
|
104 |
|
|
GRN037 |
Granulomatosis with Polyangiitis |
64 |
1.270 |
|
105 |
|
|
HPT004 |
Hepatic Coma |
43 |
1.270 |
|
106 |
|
|
CNN005 |
Connective Tissue Disease |
67 |
1.270 |
|
107 |
|
|
MYF002 |
Myofascial Pain Syndrome |
46 |
1.270 |
|
108 |
|
P
|
DRM010 |
Dermatomyositis |
61 |
1.270 |
|
109 |
|
|
HPT019 |
Hepatic Encephalopathy |
59 |
1.270 |
|
110 |
|
P
|
HPT021 |
Hepatitis |
69 |
1.270 |
|
111 |
|
P
|
ENC018 |
Encephalopathy |
62 |
1.270 |
|
112 |
|
|
ALP048 |
Alopecia Totalis |
31 |
1.270 |
|
113 |
|
|
HRN018 |
Hearing Loss, Cisplatin-Induced |
10 |
1.242 |
|
114 |
|
|
LNG099 |
Lung Disease |
62 |
1.242 |
|
115 |
|
|
INT066 |
Interstitial Lung Disease |
60 |
1.242 |
|
116 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
1.141 |
|
117 |
|
|
PRC049 |
Precursor T-Cell Acute Lymphoblastic Leukemia |
45 |
1.136 |
|
118 |
|
c
|
BDY007 |
Body Mass Index Quantitative Trait Locus 1 |
40 |
1.136 |
|
119 |
|
|
INS015 |
Inosine Triphosphatase Deficiency |
22 |
1.136 |
|
120 |
|
|
THP005 |
Thiopurines, Poor Metabolism of, 2 |
17 |
1.136 |
|
121 |
|
c
|
INF089 |
Inflammatory Bowel Disease 6 |
28 |
1.136 |
|
122 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
55 |
0.984 |
|
123 |
|
P
|
THL005 |
Thalassemia |
56 |
0.984 |
|
124 |
|
c
|
BTT014 |
Beta-Thalassemia |
72 |
0.984 |
|
125 |
|
|
VRC005 |
Varicose Veins |
60 |
0.984 |
|
126 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.984 |
|
127 |
|
|
YLL002 |
Yellow Fever |
61 |
0.984 |
|
128 |
|
|
OST003 |
Osteonecrosis |
61 |
0.984 |
|
129 |
|
|
ESP002 |
Esophageal Varix |
51 |
0.984 |
|
130 |
|
|
PRP030 |
Purpura |
54 |
0.984 |
|
131 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.984 |
|
132 |
|
c
|
ACQ014 |
Acquired Hemophilia |
45 |
0.984 |
|
133 |
|
P
|
HMP007 |
Hemophilia |
52 |
0.984 |
|
134 |
|
|
HMR013 |
Hemorrhagic Proctocolitis |
17 |
0.984 |
|
135 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.811 |
|
136 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
74 |
0.803 |
|
137 |
|
|
ESN022 |
Eosinophilic Colitis |
24 |
0.803 |
|
138 |
|
P
|
TST021 |
Testicular Germ Cell Tumor |
61 |
0.803 |
|
139 |
|
c
|
ANM038 |
Anemia, Autoimmune Hemolytic |
64 |
0.803 |
|
140 |
|
|
LYM143 |
Lymphoma, Non-Hodgkin, Familial |
75 |
0.803 |
|
141 |
|
c
|
HPT073 |
Hepatitis C Virus |
71 |
0.803 |
|
142 |
|
|
CRD137 |
Cardiogenic Shock |
56 |
0.803 |
|
143 |
|
P
|
NRP001 |
Neuropathy |
60 |
0.803 |
|
144 |
|
P
|
HML002 |
Hemolytic Anemia |
62 |
0.803 |
|
145 |
|
P
|
HYP098 |
Hypereosinophilic Syndrome |
66 |
0.803 |
|
146 |
|
c
|
HPT001 |
Hepatitis C |
62 |
0.803 |
|
147 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
59 |
0.803 |
|
148 |
|
|
ALL029 |
Allergic Disease |
59 |
0.803 |
|
149 |
|
|
HYP063 |
Hypersplenism |
52 |
0.803 |
|
150 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
0.803 |
|
151 |
|
c
|
THR001 |
Thrombocytopenia Due to Platelet Alloimmunization |
60 |
0.803 |
|
152 |
|
|
HYP056 |
Hypoglycemia |
65 |
0.803 |
|
153 |
|
|
FST010 |
Fasting Hypoglycemia |
33 |
0.803 |
|
154 |
|
c
|
INF071 |
Inflammatory Bowel Disease 1 |
65 |
0.696 |
|
155 |
|
|
SCH036 |
Scheie Syndrome |
73 |
0.696 |
|
156 |
|
|
GST106 |
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets |
65 |
0.696 |
|
157 |
|
|
LYM040 |
Lymphoblastic Lymphoma |
53 |
0.696 |
|
158 |
|
P
|
INT068 |
Intestinal Disease |
53 |
0.696 |
|
159 |
|
|
LYM019 |
Lymphosarcoma |
46 |
0.696 |
|
160 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
0.573 |
|
161 |
|
c
|
PNC108 |
Pancreatitis, Hereditary |
69 |
0.568 |
|
162 |
|
|
PLY023 |
Polycystic Liver Disease |
60 |
0.568 |
|
163 |
|
|
CVD001 |
Covid-19 |
57 |
0.568 |
|
164 |
|
|
NNL006 |
Non-Alcoholic Steatohepatitis |
54 |
0.568 |
|
165 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
0.568 |
|
166 |
|
P
|
SRC025 |
Sarcoidosis 1 |
71 |
0.568 |
|
167 |
|
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
33 |
0.568 |
|
168 |
|
c
|
CHR684 |
Chronic Kidney Disease |
69 |
0.568 |
|
169 |
|
P
|
MYP004 |
Myopathy |
67 |
0.568 |
|
170 |
|
P
|
MLG056 |
Malignant Hyperthermia |
66 |
0.568 |
|
171 |
|
|
FTT001 |
Fatty Liver Disease |
62 |
0.568 |
|
172 |
|
P
|
SKN015 |
Skin Carcinoma |
71 |
0.568 |
|
173 |
|
P
|
PLM175 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 |
51 |
0.568 |
|
174 |
|
c
|
ACT027 |
Acute Pancreatitis |
60 |
0.568 |
|
175 |
|
|
DRG002 |
Drug-Induced Hepatitis |
42 |
0.568 |
|
176 |
|
|
TST014 |
Testicular Cancer |
52 |
0.568 |
|
177 |
|
P
|
GLM007 |
Glomerulonephritis |
60 |
0.568 |
|
178 |
|
|
CRS001 |
Crescentic Glomerulonephritis |
42 |
0.568 |
|
179 |
|
c
|
JVN010 |
Juvenile Rheumatoid Arthritis |
66 |
0.568 |
|
180 |
|
|
MCR088 |
Microscopic Polyangiitis |
51 |
0.568 |
|
181 |
|
|
PST046 |
Post-Transplant Lymphoproliferative Disease |
53 |
0.568 |
|
182 |
|
|
PLM173 |
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal |
34 |
0.545 |
|
183 |
|
|
SKN022 |
Skin Squamous Cell Carcinoma |
54 |
0.545 |
|
184 |
|
|
PSD011 |
Pseudovascular Skin Squamous Cell Carcinoma |
16 |
0.545 |
|