ГЕН
|
ЗАБОЛЕВАНИЕ (OMIM)
|
ТИП НАСЛЕДОВАНИЯ*
|
% ПОКРЫТИЯ ГЕНА (20X)
|
HGMD**
|
ACD
|
Dyskeratosis Congenita, Familial Melanoma, Hoyeraal- Hreidarsson Syndrome
|
AD,AR
|
99.89
|
14 of 14
|
ACP5
|
Immunodeficiency Autoimmunity, Spondyloen- chondrodysplasia
|
AR
|
100
|
27 of 28
|
ACTB
|
Baraitser– Winter Syndrome, Dystonia, Becker Nevus Syndrome, Developmental Malformations, Deafness
|
AD
|
100
|
40 of 40
|
ADA
|
Immunodeficiency, Omenn Syndrome
|
AR
|
100
|
97 of 98
|
ADA2
|
Polyarteritis Nodosa, Sneddon Syndrome, Blackfan– Diamond Anemia
|
AR
|
100
|
–
|
AGL
|
Glycogen Storage Disease
|
AR
|
100
|
253 of 253
|
AICDA
|
Immunodeficiency
|
AR
|
99.94
|
48 of 48
|
AK2
|
Reticular Dysgenesis
|
AR
|
100
|
21 of 21
|
AKT1
|
Breast Cancer, Colorectal Cancer, Cowden Syndrome, Proteus Syndrome, Meningioma
|
AD
|
100
|
6 of 6
|
ANTXR2
|
Systemic Hyalinosis
|
AR
|
99.96
|
53 of 53
|
AP3D1
|
Hermansky- Pudlak Syndrome, Ocular Albinism
|
AR
|
99.69
|
5 of 5
|
ARHGEF1
|
Immunodeficiency
|
AR
|
90.23
|
2 of 2
|
ARVCF
|
22q11.2 Deletion Syndrome
|
–
|
99.95
|
2 of 2
|
ATM
|
Ataxia- Telangiectasia, Breast Cancer, Mantle Cell Lymphoma
|
AD,AR
|
99.93
|
1608 of 1632
|
ATP6AP1
|
Immunodeficiency
|
X,XR,G
|
99.2
|
–
|
ATRX
|
Mental Retardation, Alpha- Thalassemia- Myelodysplastic Syndrome, Carpenter- Waziri Syndrome, Chudley– Lowry- Hoar Syndrome, Holmes- Gang Syndrome, Juberg- Marsidi Syndrome, Neuroendocrine Tumor Of Stomach, Smith-Fineman- Myers Syndrome
|
X,XR,XD,G
|
98.5
|
–
|
BACH2
|
Immunodeficiency
|
AD
|
99.89
|
2 of 2
|
BCL10
|
Immunodeficiency, Lymphoma Non-Hodgkin, Mesothelioma, Testicular Tumor, Malt Lymphoma
|
AR
|
99.47
|
1 of 1
|
BCL11B
|
Immunodeficiency, Intellectual Developmental Disorder, Speech Delay, Dysmorphic Facies, T-Cell Abnormalities
|
AD
|
96.06
|
12 of 12
|
BCR
|
Chronic Myeloid Leukemia, 22q11.2 Microdeletion Syndrome
|
MU,P
|
97.78
|
–
|
BLNK
|
Agamma- globulinemia
|
AR
|
97.97
|
6 of 6
|
BTK
|
Agamma- globulinemia, Hypogamma- globulinemia, Growth Hormone Deficiency
|
X,XR,G
|
100
|
–
|
BUB1B
|
Colorectal Cancer, Mosaic Variegated Aneuploidy Syndrome
|
AD,AR
|
99.84
|
30 of 31
|
CARD11
|
Immunodeficiency, Atopic Dermatitis
|
AD,AR
|
100
|
30 of 31
|
CARD9
|
Candidiasis, Immunodeficiency
|
AR
|
99.86
|
34 of 34
|
CARMIL2
|
Immunodeficiency
|
AR
|
96.16
|
–
|
CCDC47
|
Trichohepatoneuro- developmental Syndrome
|
AR
|
99.94
|
5 of 5
|
CD19
|
Immunodeficiency
|
AD,AR
|
99.99
|
7 of 7
|
CD247
|
Immunodeficiency, Oligoarticular Idiopathic Arthritis
|
AR
|
100
|
4 of 4
|
CD28
|
Mycosis Fungoides, Sézary Syndrome
|
–
|
99.03
|
–
|
CD3D
|
Immunodeficiency
|
AR
|
100
|
7 of 7
|
CD3E
|
Immunodeficiency
|
AR
|
99.95
|
9 of 9
|
CD3G
|
Immunodeficiency
|
AR
|
100
|
3 of 3
|
CD40
|
Immunodeficiency
|
AR
|
100
|
11 of 11
|
CD40LG
|
Immunodeficiency
|
X,XR,G
|
100
|
–
|
CD79A
|
Agamma- globulinemia
|
AR
|
99.99
|
8 of 8
|
CD79B
|
Agamma- globulinemia
|
AR
|
100
|
3 of 3
|
CD81
|
Immunodeficiency
|
AR
|
100
|
2 of 2
|
CDC42
|
Takenouchi- Kosaki Syndrome, Macrothro- mbocytopenia, Lymphedema
|
AD
|
99.97
|
10 of 10
|
CDCA7
|
Immunodeficiency, Centromeric Instability, Icf Syndrome
|
AR
|
99.89
|
6 of 6
|
CDH23
|
Deafness, Pituitary Adenoma, Usher Syndrome, Cushing Disease, Prolactinoma
|
AD,AR
|
98
|
400 of 403
|
CFTR
|
Bronchiectasis , Cystic Fibrosis, Pancreatitis, Aplasia Of Vas Deferens, Cystic Fibrosis, Male Infertility
|
AD,AR
|
95.45
|
1615 of 1730
|
CHD1
|
Pilarowski- Bjornsson Syndrome, Intellectual Disability, Autism, Speech Apraxia, Craniofacial Dysmorphism
|
AD
|
99.06
|
8 of 8
|
CHD7
|
Charge Syndrome, Hypogonadotropic Hypogonadism , Kallmann Syndrome, Omenn Syndrome
|
AD
|
96.25
|
823 of 896
|
CIITA
|
Bare Lymphocyte Syndrome, Rheumatoid Arthritis, Immunodeficiency
|
AR
|
98.51
|
15 of 16
|
CLCA4
|
Cystic Fibrosis
|
–
|
97.66
|
–
|
COMT
|
Panic Disorder, Schizophrenia, 22q11.2 Deletion Syndrome
|
AD
|
99.98
|
5 of 5
|
CORO1A
|
Immunodeficiency
|
AR
|
93
|
9 of 9
|
CPLX1
|
Myoclonic Epilepsy, Epileptic Encephalopathy, Wolf- Hirschhorn Syndrome
|
AD,AR
|
99.81
|
3 of 3
|
CR2
|
Immunodeficiency
|
AD,AR
|
99.92
|
19 of 19
|
CREBBP
|
Menke- Hennekam Syndrome, Rubinstein- Taybi Syndrome
|
AD
|
100
|
318 of 318
|
CRKL
|
22q11.2 Microdeletion Syndrome
|
–
|
99.93
|
5 of 6
|
CTBP1
|
Hypotonia, Ataxia, Developmental Delay, Tooth Enamel Defect Wolf-Hirschhorn Syndrome
|
AD
|
98.45
|
1 of 1
|
CTC1
|
Cerebroretinal Microangiopathy, Dyskeratosis Congenita
|
AR
|
99.73
|
43 of 44
|
CTLA4
|
Autoimmune Lymphoproliferative Syndrome, Hashimoto Thyroiditis, Lupus Erythematosus, Mycosis Fungoides, Granulomatosis, Polyangiitis, Sézary Syndrome
|
AD
|
99.97
|
60 of 60
|
CTPS1
|
Immunodeficiency
|
AR
|
100
|
4 of 4
|
CUL4B
|
Mental Retardation, Short Stature, Small Testes, Musclewasting, Tremor
|
X,XR,G
|
99.77
|
–
|
CYBA
|
Granulomatous Disease
|
AR
|
99.98
|
67 of 67
|
CYBB
|
Mycobacteriosis, Chronic Granulomatous Disease
|
X,XR,G
|
100
|
–
|
DCLRE1C
|
Omenn Syndrome, Immunodeficiency
|
AR
|
99.99
|
72 of 73
|
DCTN4
|
Cystic Fibrosis
|
–
|
100
|
1 of 1
|
DKC1
|
Dyskeratosis Congenita, Hoyeraal- Hreidarsson Syndrome
|
X,XR,G
|
100
|
–
|
DNAJC21
|
Bone Marrow Failure Syndrome, Shwachman– Diamond Syndrome
|
AR
|
99.83
|
12 of 12
|
DNMT3B
|
Immunodeficiency, Centromeric Instability, Faciosca- pulohumeral Dystrophy, Icf Syndrome
|
AR
|
100
|
59 of 59
|
DOCK2
|
Immunodeficiency
|
AR
|
100
|
11 of 11
|
DOCK8
|
Hyperimmu- noglobulin-E Recurrent Infection Syndrome, Combined Immunodeficiency
|
AR
|
99.92
|
106 of 114
|
EFL1
|
Shwachman- Diamond Syndrome
|
AR
|
99.94
|
–
|
EP300
|
Colorectal Cancer, Menke- Hennekam Syndrome, Rubinstein- Taybi Syndrome
|
AD
|
100
|
109 of 109
|
EPG5
|
Immunodeficiency, Cleft Lip/Palate, Cataract, Hypopigmentation, Absent Corpus Callosum, Vici Syndrome
|
AR
|
98.98
|
73 of 73
|
EXTL3
|
Immunoskeletal Dysplasia, Neurodevelopmental Abnormalities, T-Cell Immunodeficiency
|
AR
|
99.99
|
10 of 10
|
FADD
|
Infections, Encephalopathy, Hepatic Dysfunction, Cardiovascular Malformations, Fadd-Related Immunodeficiency
|
AR
|
95.19
|
3 of 3
|
FCGR3A
|
Immunodeficiency
|
AR
|
99.63
|
1 of 1
|
FCN3
|
Immunodeficiency
|
AR
|
99.98
|
1 of 1
|
FGFRL1
|
Wolf-Hirschhorn Syndrome
|
AD
|
99.94
|
1 of 1
|
FOXN1
|
T-Cell Immunodeficiency, T-Cell Lymphopenia, Nail Dystrophy
|
AD,AR
|
100
|
30 of 30
|
FRAS1
|
Fraser Syndrome
|
AR
|
98.73
|
57 of 58
|
GATA1
|
Anemia, Neutropenia, Platelet Abnormalities, Down Syndrome, Dyserythropoietic Anemia, Thrombocytopenia, Hemolysis, Beta- Thalassemia, Blackfan– Diamond Anemia, Erythropoietic Porphyria
|
X,XR,G
|
99.93
|
–
|
GATA2
|
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency, Leukemia, Lymphedema, Myelodysplastic Syndrome
|
AD
|
100
|
137 of 142
|
GINS1
|
Immunodeficiency
|
AR
|
99.87
|
5 of 5
|
GP1BB
|
Bernard-Soulier Syndrome, 22q11.2 Deletion Syndrome, Fetal And Neonatal Alloimmune Thrombocytopenia
|
AR
|
74.08
|
26 of 50
|
HBB
|
Alpha- Thalassemia, Beta- Thalassemia, Fetal Hemoglobin Quantitative Trait Locus, Heinz Body Anemias, Sickle Cell Anemia
|
AD,AR
|
100
|
753 of 789
|
HELLS
|
Immunodeficiency, Centromeric Instability, Facial Anomalies, Icf Syndrome
|
AR
|
99.48
|
7 of 7
|
HIRA
|
22q11.2 Deletion Syndrome
|
–
|
99.99
|
5 of 5
|
HYOU1
|
Immunodeficiency, Hypoglycemia
|
AR
|
99.94
|
2 of 2
|
ICOS
|
Immunodeficiency
|
AD,AR
|
100
|
4 of 5
|
IFNAR2
|
Immunodeficiency
|
AR
|
99.78
|
2 of 2
|
IFNG
|
Aplastic Anemia, Immunodeficiency, Mycobacteriosis, Tuberous Sclerosis
|
AD,AR
|
99.77
|
–
|
IFNGR1
|
Helicobacter Pylori Infection, Immunodeficiency
|
AD,AR
|
99.99
|
46 of 46
|
IFNGR2
|
Immunodeficiency
|
AR
|
96.6
|
18 of 20
|
IGHM
|
Agamma- globulinemia
|
AR
|
100
|
–
|
IGLL1
|
Agamma- globulinemia
|
AR
|
100
|
2 of 2
|
IKBKB
|
Immunodeficiency
|
AD,AR
|
100
|
9 of 9
|
IKBKG
|
Ectodermal Dysplasia, Immunodeficiency, Incontinentia Pigmenti
|
X,XR,XD,G
|
38.16
|
–
|
IKZF1
|
Immunodeficiency, Stevens-Johnson Syndrome
|
AD
|
99.98
|
43 of 43
|
IL12B
|
Immunodeficiency, Takayasu Arteritis
|
AR
|
100
|
12 of 12
|
IL12RB1
|
Immunodeficiency, Biliary Cholangitis
|
AR
|
99.94
|
92 of 96
|
IL21
|
Immunodeficiency
|
AR
|
99.73
|
1 of 1
|
IL21R
|
Immunodeficiency
|
AR
|
99.97
|
10 of 10
|
IL2RA
|
Diabetes Mellitus, Interleukin 2 Receptor Deficiency, Oligoarticular Idiopathic Arthritis
|
AR
|
100
|
9 of 9
|
IL2RB
|
Immunodeficiency, Lymphoproliferation, Autoimmunity, Oligoarticular Idiopathic Arthritis
|
AR
|
94.56
|
6 of 6
|
IL2RG
|
Immunodeficiency, Omenn Syndrome
|
X,XR,G
|
99.86
|
–
|
IL7R
|
Immunodeficiency, Omenn Syndrome
|
AR
|
100
|
54 of 55
|
IRAK4
|
Immunodeficiency
|
AR
|
99.96
|
27 of 28
|
IRF2BP2
|
Immunodeficiency, Promyelocytic Leukemia
|
AD
|
86.22
|
1 of 2
|
IRF7
|
Immunodeficiency
|
AR
|
99.97
|
3 of 3
|
IRF8
|
Immunodeficiency, Mendelian Susceptibility To Mycobacterial Diseases
|
AD,AR
|
100
|
9 of 9
|
IRF9
|
Immunodeficiency
|
AR
|
100
|
5 of 5
|
ISG15
|
Immunodeficiency
|
AR
|
100
|
3 of 3
|
IVNS1ABP
|
Immunodeficiency
|
AD
|
99.83
|
–
|
JAK3
|
Immunodeficiency
|
AR
|
99.98
|
86 of 88
|
JMJD1C
|
22q11.2 Deletion Syndrome
|
–
|
99.09
|
27 of 27
|
KLLN
|
Cowden Syndrome
|
–
|
97.52
|
9 of 9
|
KNSTRN
|
Immunodeficiency, Faciooculoskeletal Anomalies
|
–
|
99.98
|
–
|
LAMTOR2
|
Immunodeficiency
|
AR
|
100
|
1 of 1
|
LAT
|
Immunodeficiency
|
AR
|
100
|
3 of 3
|
LCK
|
Immunodeficiency
|
AR
|
99.99
|
4 of 4
|
LETM1
|
Wolf- Hirschhorn Syndrome
|
AD
|
98.2
|
2 of 2
|
LIG4
|
Lig4 Syndrome, Multiple Myeloma, Dubowitz Syndrome, Omenn Syndrome
|
AR
|
99.48
|
46 of 46
|
LMNB2
|
Barraquer– Simons Syndrome, Epilepsy, Lipodystrophy
|
AD,AR
|
95.03
|
5 of 5
|
LRBA
|
Immunodeficiency, Autoimmunity
|
AR
|
99.91
|
79 of 81
|
LRRC8A
|
Agamma- globulinemia
|
AD
|
100
|
2 of 2
|
LYST
|
Chediak- Higashi Syndrome
|
AR
|
99.98
|
117 of 117
|
MAGT1
|
Congenital Disorder Of Glycosylation, Immunodeficiency
|
X,XR,G
|
100
|
–
|
MALT1
|
Immunodeficiency, Malt Lymphoma
|
AR
|
95.76
|
9 of 9
|
MAN2B1
|
Mannosidosis, Alpha- Mannosidosis
|
AR
|
100
|
149 of 149
|
MAPK1
|
Distal 22q11.2 Microdeletion Syndrome
|
–
|
96.91
|
1 of 1
|
MBTPS2
|
Ichthyosis Follicularis, Atrichia, Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Osteogenesis Imperfecta, Palmoplantar Keratoderma, Bresek Syndrome
|
X,XR,G
|
100
|
–
|
MEIS2
|
Cleft Palate, Mental Retardation, 15q14 Microdeletion Syndrome
|
AD
|
92
|
18 of 20
|
MMUT
|
Methylmalonic Aciduria, Vitamin B12- Unresponsive Methylmalonic Acidemia
|
AR
|
99.97
|
–
|
MRTFA
|
Immunodeficiency
|
AR
|
99.8
|
–
|
MS4A1
|
Immunodeficiency
|
AR
|
100
|
2 of 2
|
MSN
|
Immunodeficiency
|
X,XR,G
|
99.98
|
–
|
MTHFD1
|
Immunodeficiency, Megaloblastic Anemia, Hyperho- mocysteinemia, Neural Tube Defects
|
AR
|
99.94
|
11 of 12
|
MYC
|
Burkitt Lymphoma
|
–
|
99.3
|
2 of 2
|
MYD88
|
Immunodeficiency, Macroglobulinemia, Waldenstrom Macroglobulinemia
|
AR
|
99.55
|
7 of 7
|
MYSM1
|
Bone Marrow Failure Syndrome, B-Cell Immunodeficiency, Skeletal Dysplasia
|
AR
|
98.5
|
4 of 4
|
NBN
|
Aplastic Anemia, Leukemia, Nijmegen Breakage Syndrome, Breast And Ovarian Cancer
|
AR,MU,P
|
100
|
200 of 200
|
NCF1
|
Granulomatous Disease
|
AR
|
74.19
|
31 of 39
|
NCF2
|
Granulomatous Disease
|
AR
|
100
|
72 of 73
|
NCKAP1L
|
Immunodeficiency
|
AR
|
100
|
–
|
NFE2L2
|
Immunodeficiency, Developmental Delay, Hypoho- mocysteinemia
|
AD
|
97.24
|
7 of 7
|
NFKB1
|
Immunodeficiency
|
AD
|
99.98
|
38 of 41
|
NFKB2
|
Immunodeficiency, Deficiency In Anterior Pituitary Function
|
AD
|
100
|
22 of 22
|
NFKBIA
|
Ectodermal Dysplasia, T-Cell Immunodeficiency
|
AD
|
99.98
|
13 of 13
|
NHEJ1
|
Cernunnos- Xlf Deficiency
|
–
|
100
|
12 of 14
|
NHP2
|
Dyskeratosis Congenita
|
AR
|
100
|
3 of 3
|
NOP10
|
Dyskeratosis Congenita
|
AR
|
100
|
1 of 1
|
NPM1
|
Leukemia, Dyskeratosis Congenita
|
AD
|
99.89
|
2 of 2
|
NSD2
|
Wolf-Hirschhorn Syndrome
|
AD
|
99.91
|
–
|
NSMCE3
|
Lung Disease, Immunodeficiency
|
AR
|
99.8
|
–
|
ORAI1
|
Immunodeficiency, Stormorken- Sjaastad- Langslet Syndrome, Tubular Aggregate Myopathy
|
AD,AR
|
91.93
|
20 of 22
|
PARN
|
Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Hoyeraal- Hreidarsson Syndrome
|
AD,AR
|
99.98
|
33 of 33
|
PGM3
|
Immunodeficiency, Congenital Disorder Of Glycosylation
|
AR
|
99.99
|
17 of 17
|
PIK3CA
|
Multiple Cancer Types, Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Partial Or Generalized Overgrowth, Cowden Syndrome, Epidermal Nevus, Keratosis, Macrocephaly, Megalodactyly, Hemihyperplasia, Lynch Syndrome, Megalencephaly
|
AD
|
99.58
|
54 of 58
|
PIK3CD
|
Immunodeficiency, Faciooculoskeletal Anomalies
|
AD
|
100
|
23 of 23
|
PIK3R1
|
Agamma- globulinemia, Immunodeficiency, Short Syndrome
|
AD,AR
|
99.89
|
29 of 29
|
PKP1
|
Ectodermal Dysplasia, Skin Fragility, Epidermolysis Bullosa Simplex
|
AR
|
100
|
18 of 18
|
PNP
|
Immunodeficiency, Purine Nucleoside Phosphorylase Deficiency
|
AR
|
99.73
|
39 of 39
|
POLE
|
Colorectal Cancer, Facial Dysmorphism, Immunodeficiency, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, Image Syndrome
|
AD,AR
|
100
|
100 of 100
|
PRKCD
|
Immunodeficiency, Autoimmune Lymphoproliferative Syndrome
|
AR
|
100
|
9 of 9
|
PRKDC
|
Immunodeficiency, Neurologic Abnormalities
|
AR
|
99.74
|
9 of 10
|
PRPS1
|
Arts Syndrome, Charcot-Marie- Tooth Disease, Deafness, Phosphorib- osylpyrophosphate Synthetase Superactivity, Lethal Ataxia, Deafness, Optic Atrophy
|
X,XR,G
|
100
|
–
|
PTEN
|
Cowden Disease, Macrocephaly, Autism Syndrome, Meningioma, Prostate Cancer, Bannayan– Riley- Ruvalcaba Syndrome, Breast And Ovarian Cancer, Polyposis, Lhermitte- Duclos Disease, Proteus Syndrome Segmental Outgrowth, Lipomatosis, Epidermal Nevus
|
AD
|
99.97
|
609 of 629
|
PTPRC
|
Immunodeficiency
|
AR
|
99.98
|
7 of 7
|
RAB27A
|
Griscelli Syndrome
|
AR
|
100
|
54 of 55
|
RAC2
|
Immunodeficiency, Lymphopenia, Defective Neutrophil Chemotaxis, Hypogamm- aglobulinemia
|
AD,AR
|
100
|
5 of 5
|
RAG1
|
Cellular And Humoral Immune Defects, Omenn Syndrome, Immunodeficiency
|
AR
|
100
|
193 of 193
|
RAG2
|
Omenn Syndrome, Immunodeficiency
|
AR
|
100
|
90 of 91
|
RASGRP1
|
Immunodeficiency, Autoimmune Lymphoproliferative Syndrome
|
AR
|
98.41
|
8 of 9
|
RBCK1
|
Polyglucosan Body Myopathy, Immunodeficiency
|
AR
|
100
|
13 of 13
|
RELB
|
Immunodeficiency
|
AR
|
99.47
|
1 of 1
|
RFX5
|
Bare Lymphocyte Syndrome, Immunodeficiency
|
AR
|
99.98
|
13 of 13
|
RFXANK
|
Bare Lymphocyte Syndrome, Immunodeficiency
|
AR
|
95.14
|
24 of 24
|
RFXAP
|
Bare Lymphocyte Syndrome, Immunodeficiency
|
AR
|
94.32
|
8 of 9
|
RIPK1
|
Autoinflammation, Episodic Fever, Lymphadenopathy, Immunodeficiency
|
AD,AR
|
98.03
|
12 of 14
|
RMRP
|
Anauxetic And Metaphyseal Dysplasia, Cartilage- Hair Hypoplasia, Hypotrichosis, Omenn Syndrome
|
AR
|
–
|
–
|
RNF168
|
Riddle Syndrome
|
AR
|
99.91
|
6 of 6
|
RNU4ATAC
|
Lowry-Wood Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism, Roifman Syndrome
|
AR
|
–
|
–
|
RORC
|
Immunodeficiency
|
AR
|
99.99
|
6 of 6
|
RREB1
|
22q11.2 Deletion Syndrome
|
–
|
99.92
|
8 of 8
|
RTEL1
|
Dyskeratosis Congenita, Pulmonary Fibrosis, Marrow Failure, Hoyeraal- Hreidarsson Syndrome
|
AD,AR
|
99.73
|
127 of 131
|
SBDS
|
Aplastic Anemia, Shwachman– Diamond Syndrome
|
AR
|
100
|
77 of 79
|
SDHB
|
Carney- Stratakis Syndrome, Gastrointestinal Stromal Tumor Paragangliomas, Pheoch- romocytoma, Cowden Syndrome, Succinate- Coq Reductase Deficiency
|
AD
|
100
|
261 of 264
|
SDHC
|
Carney- Stratakis Syndrome, Gastrointestinal Stromal Tumor, Paragangliomas, Cowden Syndrome, Pheochromocytoma
|
AD
|
99.95
|
62 of 63
|
SDHD
|
Carney- Stratakis Syndrome, Mitochondrial Complex Ii Deficiency, Paragangliomas, Pheochro- mocytoma, Carcinoid Syndrome, Cowden Syndrome, Succinate-Coq Reductase Deficiency
|
AD,AR
|
99.98
|
164 of 166
|
SEC23B
|
Anemia, Cowden Syndrome
|
AD,AR
|
100
|
119 of 127
|
SEC24C
|
22q11.2 Deletion Syndrome
|
–
|
99.98
|
–
|
SH2D1A
|
Lymphoproliferative Syndrome
|
X,XR,G
|
99.94
|
–
|
SHANK3
|
Phelan- Mcdermid Syndrome, Schizophrenia, Monosomy 22q13.3
|
AD,MU,P
|
96.67
|
–
|
SIK3
|
Spondyloe- pimetaphyseal Dysplasia
|
AR
|
97.63
|
2 of 2
|
SKIV2L
|
Trichohe- patoenteric Syndrome, Syndromic Diarrhea
|
AR
|
99.98
|
33 of 33
|
SLC46A1
|
Folate Malabsorption
|
AR
|
99.8
|
21 of 21
|
SMARCAL1
|
Schimke Immuno- Osseous Dysplasia
|
AR
|
99.94
|
93 of 93
|
SP110
|
Hepatic Venoocclusive Disease, Immunodeficiency, Veno– Occlusive Disease
|
AR
|
99.94
|
8 of 8
|
SPATA5
|
Epilepsy, Hearing Loss, Mental Retardation, Microcephaly
|
AR
|
99.83
|
30 of 30
|
SRP54
|
Neutropenia, Shwachman- Diamond Syndrome
|
AD,AR
|
99.95
|
8 of 8
|
STAT1
|
Immunodeficiency, Autoimmune Enteropathy, Endocrinopathy
|
AD,AR
|
100
|
138 of 138
|
STAT2
|
Immunodeficiency, Pseudo- Torch Syndrome
|
AR
|
100
|
9 of 9
|
STAT5B
|
Growth Hormone Insensitivity, Immunodeficiency, Promyelocytic Leukemia
|
AD
|
99.94
|
12 of 12
|
STIM1
|
Immune Dysfunction, T-Cell Inactivation , Myopathy, Stormorken- Sjaastad- Langslet Syndrome
|
AD,AR
|
100
|
28 of 28
|
STK4
|
T-Cell Immunodeficiency, Autoimmunity
|
AR
|
99.88
|
10 of 10
|
STX1A
|
Cystic Fibrosis
|
–
|
97
|
3 of 3
|
TBCE
|
Encephalopathy, Optic Atrophy, Hypopa- rathyroidism, Kenny-Caffey Syndrome, Spastic Ataxia, Sanjad-Sakati Syndrome
|
AR
|
100
|
8 of 8
|
TBK1
|
Encephalopathy, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Herpes Simplex Virus Encephalitis
|
AD
|
99.91
|
141 of 142
|
TBX1
|
Conotruncal Heart Malformations, Digeorge Syndrome Tetralogy Of Fallot, Velocardiofacial Syndrome, 22q11.2 Deletion Syndrome, 22q11.2 Microduplication Syndrome
|
AD,AR
|
88.7
|
35 of 42
|
TCF3
|
Agamma- globulinemia
|
AD
|
99.98
|
7 of 7
|
TERC
|
Dyskeratosis Congenita, Pulmonary Fibrosis, Bone Marrow Failure, Aplastic Anemia, Pulmonary Fibrosis
|
AD
|
–
|
–
|
TERT
|
Aplastic Anemia, Dyskeratosis Congenita, Leukemia, Melanoma, Pulmonary Fibrosis, Bone Marrow Failure , Hoyeraal- Hreidarsson Syndrome, Meningioma
|
AD,AR
|
99.09
|
194 of 197
|
TFRC
|
Immunodeficiency
|
AR
|
100
|
2 of 2
|
TGFB1
|
Camurati– Engelmann Disease, Cystic Fibrosis, Inflammatory Bowel Disease Immunodeficiency, Encephalopathy
|
AD,AR
|
99.75
|
24 of 24
|
TICAM1
|
Encephalopathy, Herpes Simplex Virus Encephalitis
|
AD,AR
|
99.97
|
4 of 4
|
TINF2
|
Dyskeratosis Congenita, Revesz Syndrome, Hoyeraal- Hreidarsson Syndrome
|
AD
|
99.94
|
47 of 47
|
TLR3
|
Encephalopathy, Herpes Simplex Virus Encephalitis
|
AD,AR
|
100
|
16 of 16
|
TLR7
|
Immunodeficiency
|
X,XR,G
|
99.53
|
–
|
TNFRSF13B
|
Immunodeficiency, Immunoglobulin A Deficiency
|
AD,AR
|
100
|
50 of 50
|
TNFRSF13C
|
Immunodeficiency
|
AD,AR
|
99.2
|
3 of 3
|
TNFRSF1B
|
Classic Mycosis Fungoides, Sézary Syndrome
|
–
|
98.76
|
1 of 1
|
TNFRSF4
|
Immunodeficiency
|
AR
|
99.98
|
1 of 1
|
TNFSF12
|
Immunodeficiency
|
–
|
95.06
|
1 of 1
|
TPP2
|
Autoimmune Hemolytic Anemia, Autoimmune Thrombocytopenia, Immunodeficiency
|
–
|
99.84
|
11 of 11
|
TRAC
|
T-Cell Receptor Alpha/Beta Deficiency
|
AR
|
100
|
–
|
TRAF3
|
Herpes Simplex Virus Encephalitis
|
–
|
100
|
3 of 3
|
TRNT1
|
Retinitis Pigmentosa, Erythrocytic Microcytosis, Sideroblastic Anemia, B-Cell Immunodeficiency, Periodic Fevers Developmental Delay
|
AR
|
99.47
|
22 of 27
|
TTC37
|
Trichohe- patoenteric Syndrome, Syndromic Diarrhea
|
AR
|
100
|
66 of 66
|
TTC7A
|
Gastrointestinal Defects, Immunodeficiency Syndrome, Intestinal Atresia
|
AR
|
100
|
44 of 45
|
TYK2
|
Tyrosine Kinase 2 Deficiency
|
AR
|
97.56
|
9 of 9
|
UFD1
|
22q11.2 Deletion Syndrome
|
–
|
99.98
|
–
|
UNC119
|
Immunodeficiency, Cone Rod Dystrophy
|
AD
|
100
|
6 of 6
|
UNC93B1
|
Encephalopathy, Herpes Simplex Virus Encephalitis
|
AR
|
97.97
|
2 of 2
|
UNG
|
Immunodeficiency With Hiper Igm
|
AR
|
99.94
|
7 of 7
|
UROS
|
Erythropoietic Porphyria
|
AR
|
100
|
44 of 50
|
USB1
|
Poikiloderman Neutropenia, Dyskeratosis Congenita
|
AR
|
100
|
24 of 24
|
USF3
|
Cowden Syndrome
|
–
|
99.61
|
–
|
USP8
|
Pituitary Adenoma, Spastic Paraplegia, Cushing Disease
|
AD,AR
|
98.19
|
3 of 3
|
WAS
|
Neutropenia, Thrombo- cytopenia, Wiskott– Aldrich Syndrome
|
X,XR,G
|
100
|
–
|
WDR1
|
Periodic Fever, Immunodeficiency, Thrombocytopenia
|
AR
|
100
|
9 of 9
|
WHCR
|
Wolf- Hirschhorn Syndrome
|
AD
|
–
|
–
|
WIPF1
|
Wiskott-Aldrich Syndrome
|
AR
|
99.79
|
3 of 3
|
WRAP53
|
Dyskeratosis Congenita
|
AR
|
100
|
10 of 10
|
XIAP
|
Lympho- proliferative Syndrome
|
X,XR,G
|
99.94
|
–
|
XRCC4
|
Short Stature, Microcephaly, Endocrine Dysfunction, Lig4 Syndrome, Dwarfism, Insulin Resistance
|
AR
|
99.73
|
10 of 10
|
ZAP70
|
Autoimmune Disease, Immunodeficiency
|
AR
|
99.99
|
30 of 30
|
ZBTB24
|
Immunodeficiency, Icf Syndrome
|
AR
|
100
|
23 of 23
|