GENE | OMIM DISEASES | INHERITANCE* | % GENE COVERAGE (20X) | HGMD** |
ABCC9 | Acromegaloid Facial
Appearance Syndrome,
Familial Atrial Fibrillation,
Familial, Brugada Syndrome,
Dilated Cardiomyopathy,
Hypertrichosis-Acromegaloid
Facial Appearance Syndrome,
Hypertrichotic
Osteochondrodysplasia, | AD | 100% | 51 of 51 |
ACAN | Osteochondritis Dissecans,
Short Stature And Early-onset
Osteoarthritis,
Spondyloepimetaphyseal
Dysplasia Aggrecan Type,
Spondyloepiphyseal
Dysplasia Kimberley Type | AD,AR | 86.19% | 63 of 65 |
ACP5 | Combined Immunodeficiency
With Autoimmunity And
Spondylometaphyseal Dysplasia,
Spondyloenchondrodysplasia | AR | 100% | 27 of 28 |
ACTB | Baraitser-Winter Cerebrofrontofacial
Syndrome,
Baraitser-Winter Syndrome,
Becker Nevus Syndrome,
Developmental
Malformations-Deafness-Dystonia
Syndrome | AD | 100% | 40 of 40 |
ACTG1 | Baraitser-Winter Cerebrofrontofacial
Syndrome, Autosomal
Dominant Deafness | AD | 98.59% | 55 of 55 |
AFF4 | Chops Syndrome,
Cognitive Impairment-Coarse
Facies-Heart Defects,
Obesity-Pulmonary Involvement,
Short Stature-Skeletal
Dysplasia Syndrome | AD | 99.42% | 6 of 6 |
AIFM1 | Combined Oxidative
Phosphorylation Deficiency,
Cowchock Syndrome,
X-linked Cowck Deafness,
Leukoencephalopathy-
Spondylometaphyseal Dysplasia
Syndrome,
Severe X-linked Mitochondrial
Encephalomyopathy,
Spondyloepimetaphyseal Dysplasia,
X-linked Charcot-Marie-Tooth
Disease Type 4 | X,XR,G | 100% | NA of NA |
AKT1 | Breast Cancer,
Colorectal Cancer,
Cowden Syndrome,
Meningioma,
Proteus Syndrome | AD | 100% | 6 of 6 |
ALDH3A2 | Sjogren-Larsson
Syndrome | AR | 96% | 119 of 119 |
ALG9 | ALG9-CDG Congenital
Disorder Of Glycosylation
Type II, Polycystic Kidney
Disease Potter Type I | AR | 99.99% | 6 of 6 |
ANAPC1 | Rothmund-Thomson
Syndrome Type 1 | AR | 86.31% | 3 of 4 |
ANKH | Chondrocalcinosis,
Craniometaphyseal
Dysplasia, Autosomal
Dominant Familial Calcium
Pyrophosphate Deposition | AD | 100% | 19 of 19 |
ANOS1 | Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic Hypogonadism | X,XR,G | 96.86% | NA of NA |
ARSB | Mucopolysaccharidosis
Type VI | AR | 99.83% | 217 of 220 |
B3GALT6 | Ehlers-Danlos Syndrome
Progeroid Type 2,
Spondyloepimetaphyseal
Dysplasia With Joint Laxity | AR | 65.09% | 24 of 39 |
B4GALT7 | B4GALT7-Related
Spondylodysplastic
Ehlers-Danlos Syndrome | AR | 99.92% | 11 of 11 |
BGN | Meester-Loeys Syndrome,
X-linked Spondyloepimetaphyseal
Dysplasia | X,XR,G | 99.87% | NA of NA |
BMPR1B | Acromesomelic Dysplasia
Grebe Type, Brachydactyly
Type A1, A2, C, D,
Aplasia-Complex
Brachydactyly Syndrome | AD,AR | 100% | 33 of 34 |
CANT1 | Desbuquois Dysplasia,
Desbuquois Syndrome,
Multiple Epiphyseal Dysplasia | AR | 99.98% | 29 of 30 |
CCDC141 | Hypogonadotropic
Hypogonadism
Without Anosmia,
Kallmann Syndrome | AR | 99,70% | 1 of 1 |
CDH3 | Eem Syndrome,
Hypotrichosis With Juvenile
Macular Degeneration,
Congenital Hypotrichosis
With Juvenile Macular Dystrophy | AR | 95% | 34 of 36 |
CDKN1C | Beckwith-Wiedemann Syndrome,
IMAGE Syndrome,
Intrauterine Growth
Restriction-Short Stature-Early
Adult-Onset Diabetes Syndrome,
Metaphyseal Dysplasia, Adrenal
Hypoplasia Congenita,
And Genital Anomalies | AD | 73.58% | 55 of 76 |
CEP120 | Jeune Syndrome,
Joubert Syndrome,
Short-Rib Thoracic
Dysplasia With Or
Without Polydactyly | AR | 99.80% | 9 of 9 |
CFAP410 | Amyotrophic Lateral
Sclerosis, Cone Rod Dystrophy,
Retinal Dystrophy With
Or Without Macular Staphyloma,
Axial Spondylometaphyseal
Dysplasia | AR | na | na |
CHD7 | CHARGE Syndrome,
Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic
Hypogonadism,
Omenn Syndrome | AD | 96.25% | 823 of 896 |
CHST3 | CHST3-Related Skeletal
Dysplasia, Multiple Joint
Dislocations, Short Stature,
Craniofacial Dysmorphism
With Or Without Congenital
Heart Defects,
Spondyloepiphyseal Dysplasia
With Congenital
Joint Dislocations | AR | 99.97% | 38 of 38 |
COL10A1 | Metaphyseal
Chondrodysplasia
Schmid Type | AD | 96.18% | 55 of 55 |
COL11A1 | Autosomal Dominant
Myopia-Midfacial
Retrusion-Sensorineural
Hearing Loss, Rhizomelic
Dysplasia Syndrome,
Autosomal Recessive
Stickler Syndrome,
Autosomal Dominant
Deafness, Fibrochondrogenesis,
Marshall Syndrome,
Stickler Syndrome Type 2 | AD,AR | 100% | 104 of 106 |
COL11A2 | Autosomal Dominant
Otospondylomegaepiphyseal
Dysplasia,
Autosomal Dominant Deafness,
Fibrochondrogenesis,
Stickler Syndrome Type 3 | AD,AR | 99.98% | 58 of 58 |
COL1A1 | Arthrochalasia,
Ehlers-Danlos Syndrome,
Caffey Disease,
Dermatofibrosarcoma Protuberans,
Ehlers-Danlos Syndrome Type 7,
Osteogenesis Imperfecta Type I,
IIa, III, IV, Osteoporosis | AD | 99.98% | 1156 of 1159 |
COL1A2 | Arthrochalasia Ehlers-Danlos
Syndrome,
Cardiac-Valvular
Ehlers-Danlos Syndrome,
Osteogenesis Imperfecta,
Type IIa, III, IV, Osteoporosis | AD,AR | 100% | 576 of 581 |
COL2A1 | Achondrogenesis Type 2,
Autosomal Dominant
Otospondylomegaepiphyseal
Dysplasia, Avascular Necrosis
Of Femoral Head, Primary Czech
Dysplasia Metatarsal Type,
Dysspondyloenchondromatosis,
Epiphyseal Dysplasia Multiple
With Myopia And Conductive
Deafness, Familial Avascular
Necrosis Of Femoral Head,
Kniest Dysplasia,
Legg-Calve-Perthes Disease,
Multiple Epiphyseal Dysplasia
Beighton Type,
Osteoarthritis With Mild
Chondrodysplasia,
Platyspondylic Dysplasia
Torrance Type,
Spondyloepimetaphyseal Dysplasia
Congenita Strudwick Type,
Stanescu Type,
Spondylometaphyseal Dysplasia
‘Corner Fracture’ Type,
Spondyloperipheral Dysplasia,
Short Ulna Syndrome,
Stickler Syndrome Type 1 | AD,MU | 100% | 583 of 583 |
COL3A1 | Acrogeria, Ehlers-Danlos
Syndrome Type IV,
Autosomal Dominant
Familial Cerebral Saccular
Aneurysm, Polymicrogyria With
Or Without Vascular-Type
Ehlers-Danlos Syndrome,
Vascular Ehlers-Danlos
Syndrome | AD,AR | 100% | 676 of 676 |
COL9A1 | Autosomal Recessive
Stickler Syndrome,
Multiple Epiphyseal Dysplasia,
Multiple Epiphyseal Dysplasia
Due To Collagen 9 Anomaly,
Stickler Syndrome Type IV | AD,AR | 99.98% | 8 of 8 |
COL9A2 | Autosomal Recessive Stickler
Syndrome, Multiple Epiphyseal
Dysplasia, Multiple Epiphyseal
Dysplasia Due To Collagen
9 Anomaly, Stickler Syndrome,
Type V | AD,AR | 100% | 16 of 16 |
COL9A3 | Autosomal Recessive Stickler
Syndrome, Multiple Epiphyseal
Dysplasia, Multiple Epiphyseal
Dysplasia Due To Collagen 9
Anomaly | AD | 99.98% | 20 of 20 |
COMP | Multiple Epiphyseal Dysplasia,
Multiple Epiphyseal Dysplasia
Type 1, Pseudoachondroplasia | AD | 99.71% | 189 of 189 |
CTSA | Galactosialidosis,
Neuraminidase
Deficiency With
Beta-Galactosidase
Deficiency | AR | 100% | 40 of 40 |
CTSK | Pycnodysostosis | AR | 99.97% | 59 of 59 |
CWC27 | Retinitis Pigmentosa
With Or Without Skeletal
Anomalies | AR | 99.77% | 8 of 8 |
DCC | Colorectal Cancer,
Esophageal Cancer,
Familial Congenital
Mirror Movements,
Familial Horizontal
Gaze Palsy With Progressive
Scoliosis And Impaired
Intellectual Development,
Kallmann Syndrome | AD,AR | 94% | 39 of 39 |
DCHS1 | Cerebrofacioarticular Syndrome,
Mitral Valve Prolapse,
Van Maldergem Syndrome | AD,AR | 99.69% | 30 of 30 |
DDR2 | Spondylometaepiphyseal
Dysplasia, Short Limb-hand
Type, Warburg-Cinotti
Syndrome | AD,AR | 100% | 13 of 13 |
DDRGK1 | Spondyloepimetaphyseal
Dysplasia, Shohat Type | AR | 99.94% | 1 of 1 |
DMP1 | Autosomal Recessive
Hypophosphatemic Rickets | AR | 99.89% | 11 of 11 |
DNAJC21 | Bone Marrow
Failure Syndrome,
Shwachman-Diamond
Syndrome | AR | 99.83% | 12 of 12 |
DUSP6 | Hypogonadotropic Hypogonadism
With Or Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic
Hypogonadism | AD,AR | 99.36% | 4 of 4 |
DYM | Dyggve-Melchior-Clausen
Disease,
Smith-Mccort
Dysplasia | AR | 90% | 37 of 37 |
DYNC2H1 | Jeune Syndrome,
Short Rib-Polydactyly
Syndrome Verma-Naumoff Type,
Short-Rib Thoracic Dysplasia
With Or Without Polydactyly | AR,MU,D | 99.78% | 214 of 221 |
DYNC2I1 | Jeune Syndrome,
Short Rib-Polydactyly
Syndrome Verma-Naumoff Type,
Short-Rib Thoracic Dysplasia
With Or Without Polydactyly | AR | 97.76% | 14 of 14 |
DYNC2I2 | Jeune Syndrome,
Short Rib-Polydactyly Syndrome,
Verma-Naumoff Type,
Short-Rib Thoracic Dysplasia
With Or Without Polydactyly | AR | 99.54% | 23 of 23 |
DYNC2LI1 | Ellis Van Creveld Syndrome,
Jeune Syndrome,
Short-Rib Thoracic
Dysplasia With Polydactyly | AR | 91.58% | 16 of 16 |
EIF2AK3 | Multiple Epiphyseal
Dysplasia With
Early-Onset Diabetes Mellitus,
Wolcott-Rallison Syndrome | AR | 99.30% | 89 of 89 |
ENPP1 | Generalized Arterial
Calcification Of Infancy,
Autosomal Recessive
Hypophosphatemic Rickets,
Cole Disease,
Noninsulin-Dependent
Diabetes Mellitus,
Obesity,
Pseudoxanthoma Elasticum | AD,AR,MU,P | 96.59% | 73 of 75 |
ERF | Chitayat Syndrome,
Crouzon Disease,
Familial Lambdoid Synostosis,
Isolated Cloverleaf
Skull Syndrome | AD | 99.73% | 31 of 31 |
EXOC6B | Spondyloepimetaphyseal
Dysplasia With Joint Laxity,
Spondyloepimetaphyseal
Dysplasia With Joint Laxity
Type 3 | AR | 99.99% | 2 of 3 |
EXTL3 | Immunoskeletal Dysplasia
With Neurodevelopmental
Abnormalities, Skeletal
Dysplasia-T-Cell
Immunodeficiency
Developmental Delay
Syndrome | AR | 99.99% | 10 of 10 |
FAM111A | Autosomal Dominant
Kenny-Caffey Syndrome,
Gracile Bone Dysplasia | AD | 99.47% | 9 of 10 |
FAT4 | Cerebrofacioarticular
Syndrome,
Hennekam
Lymphangiectasia-Lymphedema
Syndrome,
Van Maldergem Syndrome | AR | 99.80% | 41 of 41 |
FEZF1 | Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome | AR | 99.95% | 3 of 3 |
FGF17 | Hypogonadotropic
Hypogonadism With Or
Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic
Hypogonadism | AD,AR | 99.98% | 8 of 8 |
FGF8 | Alobar Holoprosencephaly,
Hypogonadotropic
Hypogonadism With Or
Without Anosmia,
Kallmann Syndrome,
Lobar Holoprosencephaly,
Microform Holoprosencephaly,
Midline Interhemispheric Variant
Of Holoprosencephaly,
Normosmic Congenital
Hypogonadotropic
Hypogonadism,
Septopreoptic Holoprosencephaly | AD | 98.36% | 38 of 38 |
FGFR1 | Encephalocraniocutaneous
Lipomatosis,
Hartsfield Syndrome,
Isolated Trigonocephaly,
Jackson-Weiss Syndrome,
Kallmann Syndrome,
Lobar Holoprosencephaly,
Microform Holoprosencephaly,
Normosmic Congenital
Hypogonadotropic Hypogonadism,
Oligodontia,
Osteoglophonic Dysplasia,
Pfeiffer Syndrome,
Semilobar Holoprosencephaly,
Septo-Optic Dysplasia Spectrum,
Nonsyndromic Trigonocephaly | AD | 100% | 279 of 280 |
FGFR3 | Severe Achondroplasia With
Developmental Delay And
Acanthosis Nigricans,
Bladder Cancer,
Camptodactyly-Tall
Stature-Scoliosis-Hearing
Loss Syndrome,
Cervical Cancer,
Colorectal Cancer,
Crouzon Syndrome With
Acanthosis Nigricans,
Epidermal Nevus,
Hypochondroplasia,
Isolated Brachycephaly,
Isolated Plagiocephaly,
Lacrimoauriculodentodigital
Syndrome, Muenke Syndrome,
Saethre-Chotzen Syndrome,
Severe
Achondroplasia-Developmental
Delay-Acanthosis Nigricans
Syndrome, Testicular Tumor,
Thanatophoric Dysplasia
Type 1 And 2 | AD,AR | 99.89% | 77 of 78 |
FLNA | X-linked Cardiac Valvular
Dysplasia, Congenital Short
Bowel Syndrome,
Frontometaphyseal Dysplasia,
X-linked Dominant
Periventricular Heterotopia,
Neuronal Intestinal
Pseudoobstruction,
Melnick-Needles Syndrome,
Otopalatodigital Syndrome
Type 1, 2, Periventricular
Nodular Heterotopia, Terminal
Osseous Dysplasia, X-linked
Ehlers-Danlos Syndrome | X,XR,XD,G | 100% | NA of NA |
FLNB | Atelosteogenesis
Type I and Type III,
Boomerang Dysplasia,
Larsen Syndrome,
Spondylocarpotarsal
Synostosis Syndrome | AD,AR | 100% | 124 of 124 |
FLRT3 | Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome | AD | 99.98% | 7 of 7 |
FN1 | Fibronectin Glomerulopathy,
Spondylometaphyseal Dysplasia
‘Corner Fracture’ Type | AD | 100% | 34 of 34 |
GDF5 | Acromesomelic Dysplasia
Grebe Type, Hunter-Thompson
Type,
Angel-Shaped
Phalango-Epiphyseal Dysplasia,
Brachydactyly Type A1, Type A2,
Type C, Chondrodysplasia
Grebe Type,
Fibular Aplasia-Complex
Brachydactyly Syndrome,
Multiple Synostoses Syndrome,
Proximal Symphalangism | AD,AR | 99.48% | 48 of 51 |
GJA1 | Alopecia Congenita With
Keratosis Palmoplantaris,
Atrioventricular Septal Defect,
Autosomal Dominant
Palmoplantar Keratoderma And
Congenital Alopecia,
Craniometaphyseal Dysplasia,
Erythrokeratodermia Variabilis,
hypoplastic Left Heart Syndrome,
Hypoplastic Left Heart Syndrome,
Oculodentodigital Dysplasia,
Syndactyly Type 3 | AD,AR,MU,O | 100% | 119 of 119 |
GLI3 | Acrocallosal Syndrome,
Greig Cephalopolysyndactyly
Syndrome, Congenital
Hypothalamic Hamartoma
Syndrome,
Pallister-hall Syndrome,
Postaxial Polydactyly,
Preaxial Polydactyly,
Tibial Hemimelia | AD,AR | 100% | 231 of 231 |
GNAS | ACTH-Independent
Macronodular Adrenal
Hyperplasia,
Albright Hereditary
Osteodystrophy,
Cushing Syndrome
Due To Macronodular
Adrenal Hyperplasia,
Mazabraud Syndrome,
McCune-Albright Syndrome,
Progressive Osseous,
Pseudohypoparathyroidism
Type 1A, 1B, 1C Type 1c | AD | 99.95% | 263 of 273 |
GPX4 | Spondylometaphyseal
Dysplasia Sedaghatian Type | AR | 79.72% | 3 of 3 |
HBB | Alpha-Thalassemia,
Beta-thalassemia,
Heinz Body Anemias,
Hemoglobin
C-Beta-Thalassemia
Syndrome, Hemoglobin
E-beta-thalassemia Syndrome,
Hereditary Persistence Of Fetal
Hemoglobin-Beta-Thalassemia
Syndrome, Sickle Cell Anemia | AD,AR | 100% | 753 of 789 |
HDAC6 | Chondrodysplasia With
Platyspondyly, Distinctive
Brachydactyly,
Hydrocephaly and
Microphthalmia,
X-linked Dominant
Chondrodysplasia,
Chassaing-Lacombe Type | X,XD,G | 100% | NA of NA |
HESX1 | Combined Pituitary
Hormone Deficiencies,
Genetic Forms,
Hypothyroidism,
Kallmann Syndrome,
Pituitary Stalk Interruption
Syndrome, Septo-Optic
Dysplasia Spectrum | AD,AR | 100% | 26 of 26 |
HS6ST1 | Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic
Hypogonadism | AD | 99.97% | 8 of 8 |
HSPA9 | Autosomal Dominant
Sideroblastic Anemia,
Even-Plus Syndrome | AD,AR | 99.72% | 14 of 14 |
HSPG2 | Dyssegmental Dysplasia
Silverman-Handmaker Type,
Schwartz-jJmpel Syndrome | AR | 99.41% | 68 of 69 |
IARS2 | Cataract-Growth Hormone
Deficiency-Sensory
Neuropathy-Sensorineural
Hearing Loss-Skeletal
Dysplasia Syndrome | AR | 99.95% | 11 of 11 |
IDUA | Hurler Syndrome,
Hurler-Scheie Syndrome,
Scheie Syndrome | AR | 99.73% | 287 of 292 |
IFT140 | Jeune Syndrome,
Leber Congenital Amaurosis,
Retinitis Pigmentosa,
Short-Rib Thoracic Dysplasia
With Or Without Polydactyly | AR | 99.97% | 81 of 81 |
IFT172 | Bardet-Biedl Syndrome,
Jeune Syndrome,
Retinitis Pigmentosa,
Short-Rib Thoracic
Dysplasia With Or
Without Polydactyly | AR | 100% | 37 of 37 |
IFT80 | Asphyxiating Thoracic
Dystrophy, Jeune Syndrome,
Short Rib-Polydactyly
Syndrome,
Verma-Naumoff Type | AR | 99.96% | 16 of 16 |
IHH | Acrocapitofemoral
Dysplasia, Brachydactyly
Type A1 | AD,AR | 99.39% | 28 of 29 |
IL17RD | Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome | AD,AR | 99.95% | 17 of 17 |
KCNJ8 | Brugada Syndrome,
Hypertrichotic
Osteochondrodysplasia,
Cantu Type | | 100% | 8 of 8 |
KIF22 | Spondyloepimetaphyseal
Dysplasia With Multiple
Dislocations | AD | 100% | 4 of 4 |
KIF7 | Acrocallosal Syndrome,
Hydrolethalus Syndrome,
Macrocephaly With Multiple
Epiphyseal Dysplasia And
Distinctive Facies,
Orofaciodigital
Syndrome Type 6 | AR | 94.91% | 47 of 50 |
KISS1R | Hypogonadotropic
Hypogonadism With Or
Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic Hypogonadism,
Central Precocious Puberty | AD,AR | 99.41% | 42 of 43 |
KRAS | Aplasia Cutis Congenita
With Epibulbar Dermoids,
Arteriovenous Malformation
Of The Brain,
Somatic,bladder Cancer,
Breast Cancer,
Cardiofaciocutaneous
Syndrome,
Encephalocraniocutaneous
Lipomatosis,
Familial Pancreatic Carcinoma,
Gastric Cancer,
Acute Myeloid Leukemia,
Linear Nevus Sebaceus Syndrome,
Lung Cancer, Lynch Syndrome,
Noonan Syndrome,
Pancreatic Cancer,
RAS-associated Autoimmune
Lymphoproliferative Syndrome
Type IV,
Schimmelpenning-Feuerstein-Mims
Syndrome,
Toriello-Lacassie-Droste Syndrome | AD | 100% | 38 of 38 |
LBR | Greenberg Dysplasia,
Hydrops-Ectopic
Calcification-Moth-Eaten
Skeletal Dysplasia,
Pelger-Huet Anomaly,
Reynolds Syndrome | AD,AR | 99.98% | 34 of 34 |
LEMD3 | 12q14 Microdeletion Syndrome,
Buschke-Ollendorff Syndrome,
Isolated Osteopoikilosis,
Melorheostosis With Osteopoikilosis | AD | 99.06% | 30 of 33 |
LIFR | Stuve-Wiedemann
Syndrome | AR | 99.81% | 33 of 33 |
LMX1B | 9q33.3q34.11 Microdeletion
Syndrome, Nail-Patella Syndrome,
Nail-Patella-Like Renal Disease | AD | 100% | 191 of 191 |
LONP1 | Codas Syndrome | AR | 99.84% | 21 of 21 |
LOXL3 | Autosomal Recessive
Stickler Syndrome | | 99.97% | 7 of 7 |
LTBP3 | Acromicric Dysplasia,
Geleophysic Dysplasia
Platyspondyly
With Amelogenesis Imperfecta | AD,AR | 97.67% | 22 of 23 |
MAB21L2 | Syndromic Microphthalmia | AD,AR | 99.97% | 8 of 8 |
MATN3 | Multiple Epiphyseal Dysplasia,
Osteoarthritis Of Distal
Interphalangeal Joints,
Spondyloepimetaphyseal
Dysplasia, Matrilin-3 Related | AD,AR | 86.16% | 24 of 25 |
MBTPS1 | Spondyloepiphyseal
Dysplasia, Kondo-Fu Type | AR | 99.99% | 5 of 5 |
MMP13 | Metaphyseal Anadysplasia,
Metaphyseal Chondrodysplasia,
Spahr Type,
Spondyloepimetaphyseal Dysplasia,
Missouri Type,
Spondyloepimetaphyseal
Dysplasia Type II | AD,AR | 100% | 10 of 10 |
MYSM1 | Bone Marrow Failure Syndrome,
Congenital Progressive Bone
Marrow Failure-B-Cell
Immunodeficiency-Skeletal
Dysplasia Syndrome | AR | 98.50% | 4 of 4 |
NANS | Spondyloepimetaphyseal Dysplasia,
Genevieve Type | AR | 99.97% | 12 of 12 |
NEU1 | Congenital Sialidosis Type 2,
Juvenile Sialidosis Type 2,
Neuraminidase Deficiency,
Sialidosis Type 1 | AR | 100% | 68 of 68 |
NKX3-2 | Spondylo-Megaepiphyseal-
Metaphyseal
Dysplasia | AR | 99.02% | 5 of 5 |
NLRC4 | Autoinflammation With Infantile
Enterocolitis,
Familial Cold Autoinflammatory
Syndrome | AD | 99.54% | 15 of 15 |
NLRP3 | Cinca Syndrome,
Autosomal Dominant Deafness,
Familial Cold Inflammatory
Syndrome,
Familial Cold Urticaria,
Keratoendotheliitis Fugax
Hereditaria, Muckle-Wells
Syndrome | AD | 100% | 152 of 152 |
NOTCH2 | Acroosteolysis Dominant Type,
Acroosteolysis With Osteoporosis
And Changes In Skull And
Mandible, Alagille Syndrome | AD | 99.88% | 91 of 91 |
NPR2 | Acromesomelic Dysplasia,
Maroteaux Type,
Epiphyseal Chondrodysplasia,
Miura Type, Short Stature With
Nonspecific Skeletal Abnormalities | AD,AR | 100% | 81 of 81 |
NSMF | Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic Hypogonadism | AD | 99.69% | 11 of 11 |
P4HB | Cole-Carpenter Syndrome | AD | 94.97% | 13 of 13 |
PAM16 | Chondrodysplasia,
Megarbane–Dagher-Melki
Type | AR | 41% | 2 of 2 |
PAPSS2 | Spondyloepimetaphyseal
Dysplasia, Pakistani Type | AR | 99.97% | 27 of 27 |
PCYT1A | Leber Congenital Amaurosis,
Spondylometaphyseal Dysplasia
With Cone-Rod
Dystrophy Syndrome | AR | 99.98% | 22 of 22 |
PEX1 | Deafness-Enamel
Hypoplasia-Nail Defects Syndrome,
Sensorineural Hearing Loss With
Enamel Hypoplasia And Nail Defects,
Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder,
Zellweger Syndrome | AR | 97.02% | 126 of 134 |
PEX10 | Autosomal Recessive
Ataxia Due To PEX10
Deficiency, Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder 6A,
Zellweger Syndrome | AR | 99.76% | 29 of 32 |
PEX11B | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder,
Zellweger Syndrome | AR | 90.29% | 7 of 7 |
PEX12 | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis
Disorder 3A (Zellweger),
Refsum Disease Infantile Form,
Zellweger Syndrome | AR | 100% | 38 of 38 |
PEX13 | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis
Disorder 11A (Zellwege),
Peroxisome Biogenesis
Disorder 11B, Zellweger
Syndrome | AR | 99.98% | 11 of 12 |
PEX14 | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder
13A (Zellweger),
Zellweger Syndrome | AR | 100% | 4 of 4 |
PEX16 | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder
8A (Zellweger), 8B,
Zellweger Syndrome | AR | 100% | 17 of 17 |
PEX19 | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder
12A (Zellweger),
Zellweger Syndrome | AR | 100% | 5 of 5 |
PEX2 | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder
5A (Zellweger), 5B,
Zellweger Syndrome | AR | 99.89% | 17 of 17 |
PEX26 | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder
7A (Zellweger), 7B,
Zellweger Syndrome | AR | 100% | 29 of 29 |
PEX3 | Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Peroxisome Biogenesis Disorder
10A (Zellweger), 10B,
Zellweger Syndrome | AR | 100% | 9 of 9 |
PEX5 | Adrenoleukodystrophy,
Cerebrohepatorenal Syndrome,
Variant Types,
Infantile Refsum Disease,
Neonatal Adrenoleukodystrophy,
Rhizomelic Chondrodysplasia
Punctata Type 5,
Zellweger Syndrome | AR | 100% | 12 of 12 |
PEX6 | Autosomal Recessive Spinocerebellar
Ataxia-Blindness–Deafness Syndrome,
Deafness-Enamel Hypoplasia-Nail
Defects Syndrome, Heimler Syndrome,
Infantile Refsum Disease, Neonatal
Adrenoleukodystrophy, Peroxisome
Biogenesis Disorder 4A (Zellweger),
4B, Zellweger Syndrome | AD,AR | 99.94% | 105 of 108 |
PEX7 | Peroxisome Biogenesis Disorder 9B,
Refsum Disease, Rhizomelic
Chondrodysplasia Punctata Type 1 | AR | 99.21% | 47 of 53 |
PHYH | Refsum Disease | AR | 100% | 34 of 34 |
POLE | Colorectal Cancer,
Facial Dysmorphism,
Immunodeficiency,
Livedo And Short Stature,
IMAGE Syndrome,
Intrauterine Growth Retardation,
Metaphyseal Dysplasia Adrenal
Hypoplasia Congenita Genital
Anomalies And Immunodeficiency,
Polymerase
Proofreading-Related
Adenomatous Polyposis | AD,AR | 100% | 100 of 100 |
POLR1C | Hypomyelination-Hypogonadotropic
Hypogonadism-
Hypodontia Syndrome,
Hypomyelinating Leukodystrophy,
Mandibulofacial Dysostosis,
Autosomal Recessive
Treacher Collins Type | AR | 99.99% | 35 of 35 |
POLR1D | Treacher Collins Syndrome | AD,AR | 100% | 23 of 23 |
POP1 | Anauxetic Dysplasia | AR | 99.88% | 6 of 6 |
PROK2 | Hypogonadotropic
Hypogonadism With Or
Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic Hypogonadism | AD | 100% | 20 of 20 |
PROKR2 | Hypogonadotropic Hypogonadism
With Or Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic Hypogonadism,
Pituitary Stalk Interruption
Syndrome,
Septo-optic Dysplasia Spectrum | AD | 100% | 64 of 64 |
PTEN | Bannayan-Riley-Ruvalcaba
Syndrome,
Cowden Disease,
Hereditary Breast And Ovarian
Cancer Syndrome,
Juvenile Polyposis Of Infancy,
Lhermitte-Duclos Disease,
Macrocephaly/Autism Syndrome,
Familia Meningioma,
Prostate Cancer,
Proteus Syndrome,
Segmental
Outgrowth-Lipomatosis-
Arteriovenous Malformation
-Epidermal Nevus Syndrome | AD | 99.97% | 609 of 629 |
PTH1R | Blomstrand Lethal
Chondrodysplasia,
Dental Noneruption,
Eiken Skeletal Dysplasia,
Metaphyseal Chondrodysplasia,
Jansen Type, Ollier Disease | AD,AR | 100% | 48 of 48 |
RECQL4 | Baller-Gerold Syndrome,
Rapadilino Syndrome,
Rothmund-Thomson Syndrome | AR | 96.72% | 134 of 135 |
RMRP | Anauxetic Dysplasia,
Cartilage-Hair Hypoplasia,
Metaphyseal Dysplasia
Without Hypotrichosis,
Omenn Syndrome | AR | na | na |
RNU4ATAC | Lowry-Wood Syndrome,
Microcephalic Osteodysplastic
Primordial Dwarfism Types
I And III, Microcephalic
Osteodysplastic Primordial
Dwarfism Type I,
Roifman Syndrome | AR | na | na |
RPL10 | X-linked Mental Retardation,
X-linked Intellectual
Disability-Cerebellar
Hypoplasia-Spondylo-Epiphyseal
Dysplasia Syndrome,
X-linked Microcephaly-Growth
Retardation-Prognathism-
Cryptorchidism Syndrome | X,XR,G | 100% | NA of NA |
RSPRY1 | Progressive
Spondyloepimetaphyseal
Dysplasia-Short Stature-Short Fourth
Metatarsals-Intellectual Disability
Syndrome, Spondyloepimetaphyseal
Dysplasia, Faden-Alkuraya Type | AR | 99.98% | 4 of 4 |
RUNX2 | Cleidocranial Dysplasia,
Metaphyseal Dysplasia
With Maxillary Hypoplasia
And Brachydactyly | AD | 73.67% | 189 of 190 |
SBDS | Aplastic Anemia,
Idiopathic Aplastic Anemia,
Shwachman-Diamond Syndrome | AR | 100% | 77 of 79 |
SEC23A | Craniolenticulosutural Dysplasia | AR | 100% | 4 of 4 |
SEC24D | Cole-Carpenter Syndrome | AR | 99.97% | 14 of 14 |
SEMA3A | Brugada Syndrome,
Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome | AD | 100% | 29 of 29 |
SF3B4 | Acrofacial Dysostosis,
Nager Type,
Rodriguez Type,
Nager Syndrome | AD | 94.86% | 33 of 40 |
SFRP4 | Pyle Disease | AR | 99.95% | 5 of 5 |
SLC10A7 | Short Stature,
Amelogenesis Imperfecta
And Skeletal Dysplasia
With Scoliosis | AR | 99.99% | 8 of 8 |
SLC26A2 | Achondrogenesis Type 1B,
Atelosteogenesis Type II,
Diastrophic Dwarfism,
Diastrophic Dysplasia,
Multiple Epiphyseal
Dysplasia Type 4 | AR | 99.59% | 51 of 56 |
SLC39A13 | Ehlers-Danlos
Syndrome
Spondylodysplastic Type | AR | 100% | 9 of 9 |
SMARCAL1 | Immunoosseous Dysplasia,
Schimke Type | AR | 99.94% | 93 of 93 |
SOX10 | Kallmann Syndrome,
Peripheral Demyelinating
Neuropathy-Central
Dysmyelinating
Leukodystrophy-Waardenburg
Syndrome-Hirschsprung Disease,
Waardenburg-Shah Syndrome | AD | 99.74% | 139 of 147 |
SPRY4 | Hypogonadotropic
Hypogonadism With Or
Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic Hypogonadism | AD,AR | 99.72% | 13 of 13 |
SRP54 | Autosomal Dominant
Severe Congenital Neutropenia,
Shwachman-Diamond Syndrome | AD,AR | 99.95% | 8 of 8 |
STAC3 | Native American Myopathy | AR | 99.98% | 5 of 5 |
TACR3 | Hypogonadotropic
Hypogonadism With
Or Without Anosmia,
Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic Hypogonadism | AR | 99.97% | 40 of 40 |
TBXAS1 | Ghosal Hematodiaphyseal
Dysplasia | AR | 100% | 6 of 6 |
TCOF1 | Treacher Collins-Franceschetti
Syndrome | AD | 100% | 326 of 327 |
TGFB1 | Camurati-Engelmann Disease, Cystic
Fibrosis, Inflammatory Bowel Disease,
Immunodeficiency And Encephalopathy | AD,AR | 99.75% | 24 of 24 |
TMEM165 | Congenital Disorder Of
Glycosylation Type IIk | AR | 93.69% | 4 of 5 |
TMEM67 | Bardet-Biedl Syndrome,
Coach Syndrome,
Joubert Syndrome,
Joubert Syndrome With
Hepatic Defect,
Meckel Syndrome Type 3,
Nephronophthisis,
Rhyns Syndrome | AR | 96.93% | 177 of 179 |
TONSL | Sponastrime Dysplasia,
Spondyloepimetaphyseal
Dysplasia | AR | 98.76% | 36 of 40 |
TRAPPC2 | X-linked Spondyloepiphyseal
Dysplasia Tarda | X,XR,G | 99.58% | NA of NA |
TREM2 | Amyotrophic Lateral Sclerosis,
Behavioral Variant
Of Frontotemporal Dementia,
Early-Onset Autosomal Dominant
Alzheimer Disease,
Nasu-Hakola Disease,
Polycystic Lipomembranous
Osteodysplasia With Sclerosing
Leukoencephalopathy,
Progressive Non-fluent Aphasia,
Semantic Dementia | AD | 100% | 55 of 55 |
TRIP11 | Achondrogenesis Type 1A,
Odontochondrodysplasia | AR | 98.94% | 20 of 21 |
TRPV4 | Autosomal Dominant
Brachyolmia Autosomal
Dominant Congenital Benign
Spinal Muscular Atrophy,
Primary Avascular Necrosis
Of Femoral Head, Brachyrachia,
Familial Digital
Arthropathy-Brachydactyly,
Hereditary Motor And Sensory
Neuropathy Type IIC,
Nonlethal Dominant Metatropic Dysplasia,
Parastremmatic Dwarfism,
Scapuloperoneal Spinal
Muscular Atrophy,
Spondyloepiphyseal Dysplasia,
Maroteaux Type,
Spondylometaphyseal Dysplasia,
Kozlowski Type | AD | 100% | 88 of 88 |
TTC21B | Asphyxiating Thoracic Dystrophy,
Jeune Syndrome, Nephronophthisis,
Joubert Syndrome | AD,AR | 100% | 67 of 67 |
TYROBP | Nasu-Hakola Disease,
Polycystic Lipomembranous
Osteodysplasia With Sclerosing
Leukoencephalopathy | AR | 100% | 12 of 13 |
UFSP2 | Hip Dysplasia,
Beukes Type,
Spondyloepimetaphyseal Dysplasia,
Di Rocco Type | AD | 99.83% | 3 of 3 |
VPS33A | Mucopolysaccharidosis-Like
Syndrome With Congenital
Heart Defects And Hematopoietic
Disorders | AR | 97.86% | 1 of 1 |
WDR11 | Hypogonadotropic
Hypogonadism With Or
Without Anosmia, Kallmann Syndrome,
Normosmic Congenital
Hypogonadotropic Hypogonadism,
Pituitary Stalk Interruption Syndrome | AD,AR | 100% | 19 of 19 |
WDR19 | Asphyxiating Thoracic Dystrophy,
Cranioectodermal
Dysplasia, Jeune Syndrome,
Nephronophthisis,
Senior-Loken Syndrome, | AR | 99.96% | 47 of 49 |
WDR35 | Cranioectodermal Dysplasia,
Short Rib-Polydactyly Syndrome,
Verma-Naumoff Type,
Short-Rib Thoracic Dysplasia
With Or Without Polydactyly | AR | 100% | 31 of 33 |
XYLT1 | Desbuquois Dysplasia,
Desbuquois Syndrome,
Pseudoxanthoma Elasticum | AR | 92.61% | 19 of 23 |
