ClinVar Miner

Variants with conflicting interpretations studied for not provided

Coded as:
Minimum review status of the submission for not provided: Collection method of the submission for not provided:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
928616 128648 337 45004 33079 647 6279 79296

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
not provided pathogenic likely pathogenic uncertain significance likely benign benign affects association confers sensitivity drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor uncertain risk allele other
pathogenic 0 6177 2100 103 89 3 6 1 63 3 1 5 2 52 0 93
likely pathogenic 5374 4 3467 144 48 0 1 0 27 1 1 2 3 12 0 38
uncertain significance 1805 3126 182 24609 5519 14 9 0 30 2 5 1 2 34 0 112
likely benign 111 212 21654 58 27868 7 5 0 27 1 0 0 3 33 0 75
benign 106 86 4922 28868 93 12 24 1 58 1 4 0 11 78 1 43
association 1 1 2 3 1 0 0 0 0 0 0 0 0 0 0 0
established risk allele 1 1 1 0 1 0 0 0 0 0 0 0 0 1 0 0
pathogenic, low penetrance 5 4 1 0 1 0 0 0 0 0 0 0 0 1 0 0
risk factor 5 3 6 2 3 0 0 0 1 1 1 0 0 0 0 2
other 26 11 26 43 36 0 2 0 23 0 0 0 1 3 0 0

Condition to condition summary #

Total conditions: 5482
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
not provided 1020240 73000 273 23277 18141 79 3558 43320
not specified 0 43973 195 21366 13716 45 1569 34082
Cardiovascular phenotype 0 13334 1 2870 4053 5 519 7091
Breast and/or ovarian cancer 0 811 33 476 334 3 42 792
Spastic paraplegia 0 592 0 270 338 1 35 621
RYR1-Related Disorders 0 935 0 184 236 0 122 507
TTN-related condition 0 267 0 146 280 0 9 401
See cases 0 503 2 190 137 2 90 399
Cardiac arrhythmia 0 1202 0 193 145 0 73 394
Malignant hyperthermia, susceptibility to, 1 0 615 0 101 153 14 103 331
Rare genetic deafness 0 320 0 166 2 0 41 195
Tip-toe gait 0 21 0 27 16 1 129 164
Retinitis Pigmentosa, Recessive 0 61 4 75 81 0 8 156
RAI1-related condition 0 131 0 68 87 0 1 146
Hereditary cancer 0 14 0 16 133 0 0 142
ABCA4-Related Disorders 0 41 4 40 85 1 22 141
FLNB-Related Spectrum Disorders 0 44 0 39 97 0 0 135
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 0 147 0 32 91 0 10 131
Dilated Cardiomyopathy, Dominant 0 50 0 56 76 0 2 129
Limb-Girdle Muscular Dystrophy, Recessive 0 95 0 46 81 0 2 125
KMT2D-related condition 0 95 0 70 68 0 0 119
BRCA2-related condition 0 150 1 61 65 0 6 116
CFTR-related disorders 0 289 0 60 44 1 42 116
Epidermolysis bullosa dystrophica inversa, autosomal recessive 0 84 0 16 97 0 4 116
PLEC-related condition 0 55 0 23 92 0 0 112
Neuromuscular disease, congenital, with uniform type 1 fiber 0 79 0 38 71 0 1 106
Left ventricular noncompaction cardiomyopathy 0 47 0 50 44 0 8 96
PCNT-related condition 0 367 0 41 55 0 2 96
PRPH2-Related Disorders 0 81 0 52 11 0 34 93
WFS1-Related Spectrum Disorders 0 65 1 40 52 0 4 93
Cone-Rod Dystrophy, Recessive 0 23 4 52 40 0 7 91
Epileptic encephalopathy 0 148 0 63 25 1 7 91
PKHD1-related condition 0 53 0 15 69 0 11 91
Charcot-Marie-Tooth disease, type I 0 131 0 43 24 0 22 87
PKD1-related condition 0 117 0 54 26 0 11 86
Elliptocytosis 0 12 0 43 42 0 0 84
SYNE1-related condition 0 46 0 35 57 0 0 82
Autosomal recessive retinitis pigmentosa 0 117 0 31 42 0 12 81
CREBBP-related condition 0 44 0 38 43 0 1 76
Stargardt Disease, Recessive 0 17 4 47 32 0 5 76
Hereditary hyperinsulinism 0 81 0 24 53 0 1 75
Spherocytosis, Dominant 0 12 0 39 36 0 0 74
TSC2-related condition 0 90 2 38 45 0 0 73
Congenital muscular dystrophy due to partial LAMA2 deficiency 0 73 0 18 50 0 4 72
Type II Collagenopathies 0 35 0 48 32 0 0 72
APC-Associated Polyposis Disorders 0 46 8 32 44 0 0 71
ARID1B-related condition 0 46 0 58 13 0 1 70
Stickler Syndrome, Dominant 0 28 0 40 34 0 0 69
PIEZO1-related condition 0 69 0 36 41 0 1 68
ATM-related condition 0 112 0 29 44 0 0 67
CFTR-related condition 0 81 0 21 33 0 20 67
ADGRV1-related condition 0 40 0 34 42 0 0 66
GLUT1 deficiency syndrome 1, autosomal recessive 0 124 0 24 33 0 16 66
Seizure 0 84 0 17 38 1 13 65
POLG-Related Spectrum Disorders 0 35 0 26 29 0 14 62
Spherocytosis 0 21 0 12 50 0 0 62
History of neurodevelopmental disorder 0 42 0 34 27 0 4 61
RYR1-related condition 0 74 0 18 38 0 10 60
POLE-related condition 0 138 0 25 35 0 5 59
LAMA5-related condition 0 127 0 49 9 0 0 58
Nephrolithiasis/nephrocalcinosis 0 83 0 19 35 0 6 58
HSPG2-related condition 0 31 0 38 26 0 0 57
BRCA1-related condition 0 69 0 38 25 0 1 56
POLG-related disorder 0 51 0 18 36 0 7 56
VPS13B-related condition 0 71 0 8 48 0 0 56
Charcot-Marie-Tooth Neuropathy X 0 67 0 30 6 0 19 55
EP300-related condition 0 56 0 38 19 0 0 55
Nonsyndromic Hearing Loss, Recessive 0 16 0 26 28 0 0 54
FRAS1-related condition 0 84 0 31 28 0 0 53
MYH9-related condition 0 44 0 30 30 0 0 53
MSH6-related condition 0 62 0 23 32 0 1 52
APC-related condition 0 73 2 32 29 0 1 51
CDH23-Related Disorders 0 27 0 2 49 0 1 51
LRP2-related condition 0 71 0 31 23 0 0 51
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 0 276 0 31 14 0 9 50
Malignant hyperthermia, susceptibility to, 5 0 165 0 32 10 1 8 50
NEB-related condition 0 37 0 11 41 0 1 50
Hirschsprung disease, susceptibility to, 1 0 78 2 22 22 4 5 49
CACNA1A-related disorder 0 44 0 31 23 0 4 48
FAT4-related condition 0 71 0 32 18 0 0 48
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II 0 49 0 20 26 0 1 46
FBN3-related condition 0 110 0 41 5 0 0 46
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3 0 105 7 31 7 0 4 46
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 106 0 28 16 2 1 46
ABCB11-related condition 0 37 0 18 33 0 1 45
MECP2-related condition 0 44 0 20 25 0 1 45
USH2A-related condition 0 37 0 26 21 0 6 45
ANKRD11-related condition 0 39 0 40 4 0 0 44
COL6A3-related condition 0 30 0 13 32 0 1 44
NPHP4-related condition 0 24 0 0 43 0 1 44
ABCA4-related condition 0 35 0 27 14 3 11 43
ABCC2-related condition 0 56 0 19 26 0 1 43
DMD-related condition 0 14 0 22 26 0 1 43
Intellectual Disability, Recessive 0 17 0 11 32 0 0 43
COL6A2-related condition 0 12 0 8 33 0 1 42
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 0 25 0 30 1 2 18 42
COL11A1-related condition 0 38 0 21 24 0 2 41
Intellectual disability, CASK-related, X-linked 0 44 0 17 25 0 4 41
Macular dystrophy 0 17 0 31 2 1 14 41
ZNF469-related condition 0 72 0 25 20 0 0 41
ABCG8-related condition 0 27 0 13 31 1 2 40
DYSF-related condition 0 11 0 6 31 0 4 40
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 0 76 11 25 5 0 3 40
Isolated Nonsyndromic Congenital Heart Disease 0 12 0 24 20 0 1 40
CHD7-related condition 0 49 0 23 21 0 1 39
FAT1-related condition 0 68 0 25 15 0 0 39
Lissencephaly, Recessive 0 13 0 9 30 0 0 39
NOTCH2-related condition 0 16 0 10 31 0 0 39
Anophthalmia-microphthalmia syndrome 0 31 0 8 27 1 5 38
COL11A2-related condition 0 43 0 17 25 0 0 38
COL2A1-related condition 0 44 0 13 25 0 1 38
KMT2A-related condition 0 36 0 29 9 0 0 38
MYO15A-related condition 0 25 0 26 15 0 2 38
OTOG-related condition 0 39 0 20 20 0 0 38
ARID1A-related condition 0 21 0 32 7 0 0 37
CDH23-related condition 0 55 0 24 15 0 0 37
Disorders of Intracellular Cobalamin Metabolism 0 62 0 22 13 0 2 37
FLNB-related condition 0 34 0 17 21 0 0 37
KCNQ1-related condition 0 27 0 34 3 0 0 37
Myofibrillar Myopathy, Dominant 0 20 0 20 18 0 0 37
OBSCN-related condition 0 123 0 37 2 0 0 37
SETX-related condition 0 41 0 18 21 0 0 36
CC2D2A-related condition 0 24 0 9 25 0 1 35
COL7A1-related condition 0 61 0 19 15 0 4 35
Neurodevelopmental delay 0 47 0 19 4 0 13 35
SMARCA4-related condition 0 44 0 25 10 0 0 35
COL4A5-related condition 0 18 0 30 5 0 1 34
DNAH9-related condition 0 105 0 28 6 0 0 34
KMT2C-related condition 0 43 0 30 5 0 0 34
Abnormality of the musculature 0 45 0 27 0 0 10 33
CEP290-related condition 0 60 0 13 21 0 1 33
Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 0 54 0 30 3 0 0 33
MTOR-related condition 0 31 0 27 5 0 1 33
NF1-related condition 0 94 0 17 15 0 3 33
ABCB4-related condition 0 41 0 9 19 0 6 32
AHDC1-related condition 0 29 0 27 6 0 0 32
DOCK6-related condition 0 36 0 24 9 0 0 32
FLNC-related condition 0 39 0 19 18 0 0 32
Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 0 34 0 12 12 0 11 32
NPC1-related condition 0 24 0 8 22 0 3 32
CACNA1C-related disorder 0 24 0 24 14 0 0 31
FGFR2-related craniosynostosis 0 69 0 21 9 0 1 31
Global developmental delay 0 39 0 22 8 1 7 31
Juvenile myoclonic epilepsy 0 12 0 17 15 0 1 31
MYO7A-related condition 0 49 0 10 23 0 3 31
Monogenic Non-Syndromic Obesity 0 4 0 12 19 0 0 31
PTCH1-related condition 0 40 1 17 17 0 0 31
WFS1-related condition 0 54 0 20 9 0 3 31
desflurane response - Toxicity 0 9 0 0 0 31 0 31
enflurane response - Toxicity 0 9 0 0 0 31 0 31
halothane response - Toxicity 0 9 0 0 0 31 0 31
isoflurane response - Toxicity 0 9 0 0 0 31 0 31
methoxyflurane response - Toxicity 0 9 0 0 0 31 0 31
sevoflurane response - Toxicity 0 9 0 0 0 31 0 31
succinylcholine response - Toxicity 0 9 0 0 0 31 0 31
ANKRD26-related condition 0 20 0 18 14 0 0 30
ASPM-related condition 0 27 0 22 14 0 0 30
CDH1-related condition 0 33 1 18 15 0 0 30
Epilepsy, childhood absence 2; Febrile seizures, familial, 8 0 50 0 17 11 0 4 30
LAMA2-related condition 0 16 0 6 24 0 1 30
MSH2-related condition 0 54 0 7 22 0 2 30
Primary Microcephaly, Recessive 0 18 0 11 19 0 0 30
RELN-related condition 0 16 0 13 18 0 0 30
LZTR1-related condition 0 57 0 16 9 0 7 29
MYH7-related condition 0 36 0 16 11 0 5 29
TJP2-related condition 0 25 0 10 22 0 1 29
Abnormality of the nervous system 0 35 0 22 0 0 8 28
CACNA1H-related condition 0 9 0 25 6 0 0 28
FBN1-related condition 0 42 0 14 11 0 5 28
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 9 0 20 8 0 0 28
HIVEP2-related condition 0 31 0 25 3 0 0 28
KAT6A-related condition 0 10 0 26 3 0 0 28
MACF1-related condition 0 38 0 27 2 0 0 28
NOTCH1-related condition 0 73 0 18 11 0 0 28
POLD1-related condition 0 65 0 19 11 0 0 28
TRIOBP-related condition 0 19 0 20 9 0 0 28
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 85 0 19 7 0 1 27
COL4A2-related condition 0 26 0 18 8 0 1 27
COL4A3-related condition 0 32 0 14 9 0 7 27
EHHADH-related condition 0 8 0 4 24 0 0 27
FREM2-related condition 0 56 0 13 18 0 0 27
NOTCH3-related condition 0 32 0 15 12 0 1 27
SON-related condition 0 41 0 18 9 0 0 27
SYNE2-related condition 0 21 0 12 20 0 0 27
Thyrotoxic periodic paralysis, susceptibility to, 1 0 111 0 22 1 2 2 27
ANK2-related condition 0 27 0 22 4 0 2 26
AXIN2-related condition 0 29 0 14 14 0 0 26
COL4A4-related condition 0 40 0 15 6 0 8 26
CRB2-related condition 0 23 0 16 11 0 0 26
Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 0 32 0 14 8 0 5 26
DCHS1-related disorder 0 45 0 15 12 0 0 26
DHCR7-related condition 0 15 0 10 15 0 3 26
LAMA1-related condition 0 23 0 16 13 0 0 26
OTOGL-related condition 0 19 0 19 12 0 0 26
TP63-Related Spectrum Disorders 0 30 0 14 12 0 2 26
AUTS2-related condition 0 17 0 20 6 0 0 25
COL4A1-related condition 0 48 0 18 9 0 0 25
Congenital Muscular Dystrophy, alpha-dystroglycan related 0 27 0 8 16 0 1 25
LONP1-related condition 0 21 0 20 4 0 1 25
NBAS-related condition 0 37 0 17 7 0 1 25
OCA2-related condition 0 21 0 15 5 0 11 25
SMPD1-related condition 0 18 0 3 21 0 1 25
ivacaftor response - Efficacy 0 1 0 0 0 25 0 25
ATP8B1-related condition 0 36 0 10 21 0 0 24
Benign familial hematuria 0 14 0 13 4 0 10 24
CCDC88C-related condition 0 29 0 14 11 0 0 24
CHEK2-Related Cancer Susceptibility 0 19 0 8 13 1 4 24
COL18A1-related condition 0 76 0 14 12 0 0 24
DYNC1H1-related condition 0 42 0 19 5 0 1 24
FANCA-related condition 0 33 0 7 16 0 2 24
FLNA-related condition 0 69 0 11 16 0 0 24
PEX1-related condition 0 7 0 6 19 0 0 24
PHIP-related condition 0 49 0 12 12 0 0 24
SETBP1-related condition 0 26 0 17 7 0 1 24
Tramadol response 0 0 0 0 0 24 0 24
ANKRD1-related dilated cardiomyopathy 0 47 0 12 10 0 1 23
Abnormal brain morphology 0 1 0 6 1 0 17 23
DNHD1-related condition 0 49 0 20 1 0 2 23
Focal segmental glomerulosclerosis 3, susceptibility to 0 25 0 19 3 0 1 23
Hypercholesterolemia 0 19 0 9 9 1 7 23
ITPR1-related condition 0 28 0 14 10 0 0 23
KMT2B-related condition 0 21 0 19 6 0 0 23
LAMC3-related condition 0 31 0 9 16 0 0 23
MSH3-related condition 0 52 0 10 16 0 0 23
MYH3-related condition 0 29 0 20 6 0 1 23
PALB2-related condition 0 65 0 8 15 0 0 23
RTTN-related condition 0 36 0 14 10 0 1 23
Retinitis Pigmentosa, Dominant 0 16 0 10 13 0 0 23
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 0 52 0 20 0 2 3 23
STK11-related condition 0 19 0 17 6 0 0 23
TSC1-related condition 0 23 0 9 20 0 0 23
ASXL1-related condition 0 16 0 20 1 0 1 22
CACNA1E-related condition 0 13 0 21 2 0 0 22
CHD8-related condition 0 16 0 18 8 0 0 22
FAT2-related condition 0 58 0 17 6 0 0 22
GAA-related condition 0 6 0 5 17 0 2 22
GNAS-related condition 0 44 0 13 9 0 1 22
HUWE1-related condition 0 14 0 20 5 0 0 22
JAG1-related condition 0 23 0 3 17 0 2 22
KCNT1-related condition 0 16 0 15 10 0 0 22
LRP5-related condition 0 49 0 9 14 0 0 22
Limb-Girdle Muscular Dystrophy, Dominant 0 12 0 15 7 0 0 22
PMS2-related condition 0 38 0 8 13 0 2 22
RECQL4-related condition 0 26 0 11 11 0 1 22
RYR2-related condition 0 25 0 12 13 0 0 22
SCN5A-related condition 0 36 0 17 5 0 3 22
SPEG-related condition 0 38 0 15 9 0 0 22
CHEK2-related condition 0 29 0 4 13 1 6 21
EGFR-related lung cancer 0 61 0 13 8 0 1 21
Isolated thoracic aortic aneurysm 0 13 0 12 3 0 6 21
MPDZ-related condition 0 38 0 19 3 0 0 21
Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin 0 26 0 19 2 0 1 21
Nephronophthisis 8 0 22 0 7 14 0 0 21
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 0 15 0 8 13 0 0 21
OTOF-related condition 0 22 0 12 11 0 0 21
PCDH15-related condition 0 24 0 12 10 0 0 21
PKD1L1-related condition 0 67 0 12 9 0 0 21
TCOF1-related condition 0 9 0 17 6 0 0 21
TRRAP-related condition 0 35 0 18 6 0 0 21
ANO5-Related Muscle Diseases 0 44 0 11 9 0 3 20
APOB-related condition 0 32 0 9 10 0 1 20
CSF1R-related condition 0 20 0 12 8 0 1 20
Corticosterone methyl oxidase type II deficiency 0 34 0 6 14 0 0 20
FANCM-related condition 0 30 0 7 14 0 0 20
Isolated coronal synostosis 0 9 0 13 7 0 0 20
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 0 83 0 10 11 0 1 20
NBN-related condition 0 13 0 7 14 1 0 20
NSD1-related condition 0 13 0 15 10 0 0 20
PLXNA2-related condition 0 133 0 16 4 0 0 20
SLC10A2-related condition 0 15 0 4 18 0 0 20
TP53-related condition 0 28 0 12 10 0 0 20
TRIM32-related condition 0 27 0 1 19 0 0 20
TRIO-related condition 0 33 0 18 4 0 1 20
A2ML1-related condition 0 45 0 11 9 0 0 19
ADNP-related condition 0 8 0 13 5 0 1 19
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 9 0 12 4 0 8 19
COL5A1-related condition 0 33 0 6 14 0 0 19
CYP27A1-related condition 0 17 0 5 12 0 2 19
KIDINS220-related condition 0 116 0 9 10 0 0 19
MKS1-related condition 0 35 0 4 15 1 3 19
MYBPC3-related condition 0 30 0 10 8 0 2 19
PLXNA1-related condition 0 52 0 13 6 0 0 19
SCN1A-related condition 0 19 0 14 7 0 1 19
SERPINA1-related condition 0 5 0 3 15 2 0 19
VPS13D-related condition 0 47 0 17 2 0 0 19
ABCA12-related condition 0 19 0 16 4 0 0 18
ABCC6-related condition 0 32 0 10 6 0 4 18
ALPK3-related condition 0 55 0 18 2 0 1 18
BRIP1-related condition 0 44 0 15 5 0 0 18
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 0 54 0 15 1 0 3 18
EHMT1-related condition 0 13 0 11 11 0 0 18
FOXP1-related condition 0 10 0 16 1 0 1 18
Heimler syndrome 1 0 28 0 12 3 0 4 18
MLH1-related condition 0 37 0 10 8 0 1 18
MYH6-related condition 0 45 0 13 7 0 0 18
MYO18B-related condition 0 50 0 13 5 0 0 18
MYO5B-related condition 0 77 0 14 4 0 0 18
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 0 37 0 17 0 0 1 18
Neuronal Ceroid-Lipofuscinosis, Recessive 0 17 0 10 8 0 0 18
Nonsyndromic Hearing Loss, Dominant 0 10 0 7 10 0 1 18
PTPN11-related condition 0 28 0 11 4 0 3 18
Plasma factor XI deficiency 0 39 0 6 12 0 0 18
RNF213-related condition 0 24 0 16 3 0 0 18
SACS-related condition 0 12 0 10 10 0 0 18
SAMD9L-related condition 0 37 0 14 4 0 2 18
SLC34A3-related condition 0 15 0 12 7 0 0 18
SOS1-related condition 0 14 0 12 8 0 0 18
SPTB-related condition 0 9 0 12 10 0 2 18
SZT2-related condition 0 36 0 11 8 0 0 18
Short stature 0 7 0 2 6 0 10 18
TECTA-related condition 0 11 0 10 9 0 1 18
Arthrogryposis multiplex congenita distal 0 2 0 5 12 0 0 17
Basal laminar drusen; Factor H deficiency; Hemolytic uremic syndrome, atypical, susceptibility to, 1; Age related macular degeneration 4 0 60 0 17 0 0 0 17
Breast cancer, susceptibility to 0 7 0 5 1 11 0 17
CEP152-related condition 0 17 0 16 3 0 0 17
CUBN-related condition 0 15 0 9 7 0 1 17
DICER1-related condition 0 33 0 8 9 0 0 17
DYNC2H1-related condition 0 8 0 8 10 0 1 17
Decreased response to growth hormone stimulation test 0 8 0 6 11 0 0 17
GLI2-related condition 0 17 0 9 9 0 0 17
HERC1-related condition 0 23 0 13 4 0 0 17
HSD17B4-related condition 0 12 0 6 11 0 3 17
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 0 129 0 13 4 0 0 17
IFT172-related condition 0 34 0 4 13 0 0 17
LOXHD1-related condition 0 25 0 9 10 0 0 17
LRRC56-related condition 0 27 0 13 4 0 0 17
LRRK1-related condition 0 62 0 17 0 0 0 17
Osteogenesis Imperfecta, Recessive 0 12 0 8 9 0 0 17
RPGRIP1L-related condition 0 32 0 6 11 0 0 17
SH3TC2-related condition 0 4 0 7 9 0 1 17
SMARCA2-related condition 0 15 0 14 2 0 1 17
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3 0 12 0 11 6 0 1 17
VCAN-related condition 0 47 0 12 5 0 0 17
ABCC8-related condition 0 36 0 9 5 0 3 16
ALPL-related condition 0 23 0 9 5 0 4 16
ALS2-Related Disorders 0 20 0 5 11 0 0 16
ASXL3-related condition 0 13 0 15 1 0 0 16
BLM-related condition 0 18 0 7 11 0 0 16
BRAT1-related condition 0 6 0 8 8 0 0 16
COL17A1-related condition 0 14 0 14 2 0 0 16
COL1A1-related condition 0 33 0 11 6 0 0 16
COL4A6-related condition 0 18 0 6 11 0 1 16
COL6A1-related condition 0 5 0 5 11 0 0 16
CPLANE1-related condition 0 21 0 10 7 0 1 16
Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type 0 5 0 3 13 0 0 16
EYS-related condition 0 19 1 10 9 0 0 16
Fatal Infantile Cardioencephalomyopathy 0 3 0 8 8 0 0 16
ITGB4-related condition 0 51 0 13 5 0 0 16
KAT6B-related condition 0 10 0 13 3 0 0 16
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 18 0 5 9 0 3 16
MED13L-related condition 0 13 0 14 2 0 0 16
MYH14-related condition 0 19 0 13 3 0 1 16
PTPN23-related condition 0 19 0 13 4 0 0 16
SBF1-related condition 0 23 0 9 7 0 1 16
SPTAN1-related condition 0 14 0 13 6 0 0 16
TSPEAR-related condition 0 13 0 12 6 0 2 16
UNC80-related condition 0 46 0 13 3 0 0 16
VPS33B-related condition 0 12 0 4 14 0 0 16
WDR62-related condition 0 16 0 9 9 0 0 16
ANK3-related condition 0 43 0 13 2 0 0 15
BARD1-related condition 0 26 0 8 9 0 0 15
CACNA1G-related condition 0 20 0 12 3 0 0 15
Chitotriosidase deficiency 0 3 0 4 13 1 0 15
Colorectal cancer, non-polyposis 0 6 4 1 15 0 0 15
DNAH7-related condition 0 11 0 15 0 0 0 15
Dilated Cardiomyopathy, Recessive 0 11 0 12 3 0 0 15
Encephalopathy, acute, infection-induced, susceptibility to, 4 0 57 0 10 0 0 5 15
FGFR3-related condition 0 48 0 9 7 0 0 15
FREM1-related condition 0 27 0 9 6 0 0 15
GPR179-related condition 0 19 0 14 2 0 0 15
HNF1B-related condition 0 18 0 2 13 0 0 15
Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis 0 4 0 7 8 0 0 15
Hirschsprung disease, susceptibility to, 2 0 6 0 5 11 3 0 15
Lynch-like syndrome 0 41 0 6 1 0 9 15
MCPH1-related condition 0 18 0 10 5 0 1 15
NEFH-related condition 0 39 0 8 8 0 0 15
NLRP3-related condition 0 6 0 11 7 0 0 15
Neural tube defect 0 6 0 10 4 1 0 15
PACS2-related condition 0 18 0 15 0 0 0 15
PCLO-related condition 0 55 0 13 2 0 0 15
PEX6-related condition 0 8 0 4 11 0 1 15
Papillary renal cell carcinoma, sporadic 0 4 0 14 0 0 2 15
SCN2A-related disorder 0 15 0 12 4 0 1 15
SLC12A3-related condition 0 16 0 11 4 0 1 15
SRCAP-related condition 0 31 0 9 7 0 0 15
TAF1-related condition 0 7 0 13 2 0 0 15
ZNF335-related condition 0 8 0 11 4 0 1 15
ABCD1-related condition 0 9 0 4 5 0 6 14
ABCG5-related condition 0 9 0 2 13 0 0 14
ADAMTSL4-related condition 0 21 0 13 2 0 0 14
ATP7B-related condition 0 24 0 5 6 0 4 14
Abnormality of coagulation 0 4 0 6 2 0 6 14
BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to 0 30 0 10 4 0 0 14
CACNA1D-related condition 0 30 0 8 6 0 0 14
CNTNAP2-related condition 0 13 0 1 13 0 0 14
COL9A3-related condition 0 29 0 9 5 0 0 14
DDX41-related condition 0 20 0 9 4 0 2 14
DSP-related condition 0 27 0 8 6 0 0 14
Developmental cataract 0 2 0 8 4 0 2 14
ERCC2-related condition 0 10 0 9 4 0 1 14
FBN2-related condition 0 31 0 6 9 0 0 14
HNF1A-related condition 0 11 0 12 2 0 1 14
Heimler syndrome 2 0 22 0 11 0 0 4 14
IGSF10-related condition 0 51 0 13 1 0 0 14
IRF2BPL-related condition 0 6 0 12 1 0 1 14
KCNMA1-related condition 0 14 0 7 7 0 0 14
LAMA3-related condition 0 28 0 10 6 0 0 14
LDB3-related condition 0 11 0 8 6 0 0 14
LEPR-related condition 0 12 0 3 10 0 1 14
MAP1B-related condition 0 18 0 13 0 0 1 14
NEXMIF-related condition 0 6 0 14 1 0 0 14
NRXN1-related condition 0 10 0 6 9 0 1 14
NTRK2-related condition 0 49 0 11 3 0 0 14
Neurodevelopmental abnormality 0 24 0 4 5 0 8 14
Nonsyndromic Hearing Loss, Mixed 0 1 0 4 10 0 0 14
PTEN-related condition 0 21 0 6 9 0 0 14
RET-related condition 0 32 0 2 12 0 0 14
Rare genetic intellectual disability 0 11 0 10 2 0 2 14
SEPN1-Related Disorders 0 17 0 8 6 0 0 14
SI-related condition 0 15 0 9 4 0 2 14
SLC27A5-related condition 0 14 0 4 13 0 0 14
TAF15-related condition 0 18 0 13 1 0 0 14
TCIRG1-related condition 0 23 0 8 7 0 0 14
TNS2-related condition 0 18 0 11 4 0 0 14
TNXB-related condition 0 38 0 6 8 0 0 14
TRAPPC9-related condition 0 19 0 10 5 0 0 14
Transient Neonatal Diabetes, Recessive 0 10 0 9 5 0 0 14
AGL-related condition 0 5 0 6 7 0 0 13
AKAP9-related condition 0 11 0 10 4 0 0 13
AR-related condition 0 6 0 11 3 0 1 13
ARHGAP31-related condition 0 13 0 7 7 0 0 13
ATRX-related condition 0 14 0 11 3 0 0 13
Abnormality of the skin 0 12 0 12 0 0 2 13
C2CD3-related condition 0 23 0 10 3 0 0 13
CAD-related condition 0 25 0 13 1 0 0 13
CC2D1A-related condition 0 18 0 10 3 0 0 13
COL12A1-related condition 0 30 0 9 3 0 1 13
COL9A1-related condition 0 16 0 6 8 0 0 13
CUL7-related condition 0 11 0 6 8 0 0 13
Childhood onset hearing loss 0 11 0 1 9 0 3 13
DNMT3A-related condition 0 16 0 10 4 0 0 13
DST-related condition 0 19 0 7 6 0 0 13
DVL1-related condition 0 13 0 13 0 0 0 13
ERCC6L2-related condition 0 14 0 10 3 0 0 13
FGD1-related condition 0 4 0 12 4 0 1 13
FLCN-related condition 0 34 0 4 9 0 0 13
GPBAR1-related condition 0 10 0 1 12 0 0 13
GRIN2B-related condition 0 3 0 10 5 0 0 13
IGF1R-related condition 0 22 0 8 6 0 0 13
INSR-related condition 0 13 0 7 8 0 1 13
ITPR3-related condition 0 36 0 13 0 0 0 13
Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 0 23 0 8 5 0 2 13
Inherited Erythromelalgia 0 13 0 5 8 0 0 13
Inherited Immunodeficiency Diseases 0 13 0 10 0 1 4 13
KDM6B-related condition 0 10 0 13 0 0 0 13
KIT-related condition 0 11 1 5 9 0 0 13
LTBP2-related condition 0 17 0 8 6 0 0 13
MBD5-related condition 0 11 0 7 8 0 0 13
MUC16-related condition 0 42 0 13 0 0 0 13
MUTYH-related condition 0 26 1 5 9 0 1 13
MYH11-related condition 0 28 0 4 9 0 1 13
NPHP3-related condition 0 11 0 3 10 0 0 13
OBSL1-related condition 0 24 0 9 5 0 1 13
PEX5-related condition 0 2 0 0 13 0 0 13
PLCE1-related condition 0 13 0 8 5 0 1 13
SCN4A-related condition 0 10 0 5 9 0 1 13
SETD1B-related condition 0 17 0 13 1 0 0 13
SETD2-related condition 0 9 0 12 1 0 0 13
SETD5-related condition 0 17 0 10 2 0 1 13
SPTA1-related condition 0 11 0 5 12 0 0 13
SUDDEN INFANT DEATH SYNDROME 0 22 0 6 2 0 5 13
Sulfate transporter-related osteochondrodysplasia 0 23 0 8 5 0 0 13
TCF3-related condition 0 27 0 11 2 0 0 13
VPS13A-related condition 0 26 0 10 4 0 0 13
VWF-related condition 0 30 0 6 6 0 5 13
WDR35-related condition 0 5 0 3 10 0 0 13
ZFHX3-related condition 0 22 0 12 1 0 0 13
ACTG1-related condition 0 12 0 10 2 0 1 12
Atypical Gaucher Disease 0 12 0 6 6 0 0 12
BBS1-related condition 0 11 0 3 8 0 1 12
Benign Neonatal Epilepsy 0 4 0 6 7 0 0 12
CDK5RAP2-related condition 0 22 0 4 8 0 0 12
CHD2-related condition 0 7 0 11 1 0 0 12
CIT-related condition 0 21 0 9 3 0 0 12
DCDC2-related condition 0 3 0 3 9 0 0 12
DEPDC5-related condition 0 8 0 11 3 0 0 12
DGUOK-related condition 0 11 0 3 10 0 1 12
DMXL2-related condition 0 32 0 11 1 0 0 12
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 0 34 0 6 6 0 2 12
ELN-related condition 0 17 0 3 8 0 1 12
ERBIN-related condition 0 28 0 7 5 0 0 12
ERCC6-related condition 0 14 0 4 8 0 0 12
EVC-related condition 0 6 0 4 8 0 0 12
EVC2-related condition 0 7 0 9 3 0 0 12
FH-related condition 0 22 0 8 4 0 2 12
FN1-related condition 0 15 0 11 1 0 0 12
FUS-related condition 0 13 0 6 6 0 0 12
GALC-related condition 0 7 0 6 6 0 0 12
GALNT12-related condition 0 13 0 7 5 0 0 12
HMCN1-related condition 0 58 0 10 2 0 0 12
Herpes simplex encephalitis, susceptibility to, 1 0 12 0 9 2 0 1 12
IGHMBP2-related condition 0 4 0 9 5 0 0 12
INVS-related condition 0 6 0 1 11 0 0 12
KIF1A-related condition 0 20 0 8 7 0 0 12
LMNA-related condition 0 12 0 5 6 0 1 12
MAP2K2-related condition 0 6 0 9 3 0 0 12
MET-related condition 0 24 2 2 10 0 0 12
MYLK-related condition 0 29 0 5 7 0 0 12
Migalastat response 0 0 0 0 0 12 0 12
NALCN-related condition 0 21 0 5 7 0 0 12
NBEAL2-related condition 0 10 0 9 5 0 0 12
NEBL-related condition 0 8 0 9 4 0 0 12
NPHP1-related condition 0 5 0 0 12 0 0 12
NPHS1-related condition 0 26 0 5 7 0 0 12
NRIP1-related condition 0 12 0 7 5 0 0 12
PDZD7-related condition 0 6 0 7 4 0 2 12
PIK3CA related overgrowth syndrome 0 14 0 11 0 0 2 12
POLR3A-related condition 0 15 0 10 2 0 0 12
POMT1-related condition 0 6 0 1 10 0 2 12
RIN2-related condition 0 16 0 7 4 0 1 12
ROBO1-related condition 0 20 0 10 2 0 0 12
RP1L1-related condition 0 12 0 6 6 0 2 12
SAMD9-related condition 0 49 0 7 6 0 1 12
SCN9A-related condition 0 10 0 3 9 0 0 12
Spherocytosis, Recessive 0 0 0 5 7 0 0 12
TUB-related condition 0 82 0 4 7 0 1 12
Thiamine-responsive megaloblastic anemia 0 6 0 3 9 0 0 12
UGT1A1-related condition 0 27 0 6 4 4 4 12
carboxymethyl-dextran-A2-gadolinium-DOTA 0 12 0 9 4 0 0 12
ABCA3-related condition 0 16 0 8 5 0 0 11
ADAMTS13-related condition 0 18 0 6 5 0 0 11
ADCY3-related condition 0 11 0 9 2 0 0 11
ADGRG1-related condition 0 11 0 6 5 0 0 11
AEBP1-related condition 0 17 0 10 1 0 0 11
AGRN-related condition 0 11 0 7 5 0 0 11
ARFGEF2-related condition 0 14 0 7 5 0 0 11
Aganglionic megacolon 0 7 1 4 4 0 5 11
Amyotrophic Lateral Sclerosis, Dominant 0 7 0 10 3 0 1 11
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 0 14 0 5 7 0 0 11
C6-related condition 0 7 0 11 0 0 1 11
CACNA1B-related condition 0 22 0 8 2 0 1 11
CNGB1-related condition 0 10 0 6 4 0 1 11
COL9A2-related condition 0 15 0 3 7 0 1 11
DNAH11-related condition 0 13 0 2 8 0 1 11
DUOX2-related condition 0 24 0 5 4 0 2 11
Developmental disorder 0 22 0 5 3 0 5 11
ERMARD-related condition 0 10 0 9 3 0 0 11
Epilepsy, childhood absence 2 0 8 0 2 9 0 0 11
FANCC-related condition 0 11 0 6 7 0 0 11
FBLN1-related condition 0 5 0 8 3 0 0 11
FGFR1-related condition 0 11 0 5 6 0 1 11
FMN1-related condition 0 13 0 8 3 0 0 11
FMN2-related condition 0 53 0 9 2 0 0 11
Factor VII Marburg I Variant Thrombophilia 0 11 0 8 3 0 0 11
Global developmental delay; Brain atrophy 0 0 0 0 1 0 10 11
HCN4-related condition 0 12 0 5 8 0 1 11
Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 0 58 0 3 6 0 2 11
KIAA0586-related condition 0 10 0 6 5 0 0 11
KIF1B-related condition 0 12 0 4 7 0 0 11
LAMB1-related condition 0 29 0 6 6 0 0 11
MAPKBP1-related condition 0 10 0 11 0 0 0 11
MAST1-related condition 0 14 0 11 0 0 0 11
MED12-related disorder 0 15 0 9 4 0 0 11
MTHFR-related condition 0 1 0 4 6 2 0 11
OPA1-related condition 0 22 0 6 6 0 1 11
Obstructive azoospermia 0 3 0 5 1 0 6 11
PEX14-related condition 0 4 0 0 11 0 0 11
PLEKHG5-related condition 0 7 0 5 7 0 0 11
PLXNA3-related condition 0 43 0 9 2 0 0 11
RAF1-related condition 0 7 0 11 4 0 0 11
SKIC3-related condition 0 17 0 6 5 0 0 11
SMCHD1-related condition 0 2 0 6 6 0 0 11
SORL1-related condition 0 14 0 11 0 0 0 11
SPTBN2-related condition 0 16 0 10 2 0 0 11
TBCD-related condition 0 20 0 5 5 0 1 11
TNC-related condition 0 15 0 10 1 0 0 11
TUBB1-related condition 0 4 0 6 1 0 4 11
TUBGCP6-related condition 0 41 0 7 4 0 0 11
fluorouracil response - Toxicity 0 2 0 0 0 11 0 11
ACACA-related condition 0 13 0 8 2 0 0 10
ACACB-related condition 0 22 0 5 5 0 0 10
ACAD9-related condition 0 17 0 5 5 0 1 10
ANK1-related condition 0 14 0 3 7 0 0 10
ATP1A3-related condition 0 12 0 8 3 0 0 10
CACNA1S-related condition 0 16 0 3 7 0 0 10
CDK13-related condition 0 17 0 7 2 0 1 10
CDKN1B-related condition 0 5 0 4 8 0 0 10
CELSR1-related condition 0 20 0 10 0 0 0 10
CHD4-related condition 0 14 0 6 3 0 1 10
COQ8A-related condition 0 19 0 9 2 0 0 10
Combined Pituitary Hormone Deficiency, Recessive 0 0 0 5 5 0 0 10
Congenital Stationary Night Blindness, Recessive 0 11 0 6 4 0 0 10
DAG1-related condition 0 3 0 4 7 0 0 10
DCTN1-related condition 0 11 0 4 7 0 0 10
DNAH1-related condition 0 11 0 3 7 0 0 10
Early Infantile Epileptic Encephalopathy, Autosomal Recessive 0 8 0 5 5 0 0 10
Ectopia lentis 0 6 0 3 7 0 0 10
Epilepsy, idiopathic generalized, susceptibility to, 11; Familial hyperaldosteronism type II; Leukoencephalopathy with mild cerebellar ataxia and white matter edema 0 27 0 9 1 0 0 10
FAM20C-related condition 0 6 0 7 3 0 0 10
FAN1-related condition 0 11 0 8 2 0 0 10
FKTN-related condition 0 2 0 2 9 0 0 10
FLG-related condition 0 15 0 9 0 0 1 10
GCK-related condition 0 10 0 7 0 0 4 10
GGCX-related condition 0 7 0 10 0 0 0 10
HPS4-related condition 0 12 0 4 6 0 0 10
Hemoglobin E 0 2 0 1 6 1 2 10
IFT140-related condition 0 9 0 3 7 0 1 10
KANK1-related condition 0 35 0 5 5 0 0 10
KATNIP-related condition 0 21 0 8 1 0 1 10
KIF5A-related condition 0 6 0 6 5 0 0 10
KRT10-related condition 0 3 0 8 2 0 0 10
LAMC2-related condition 0 7 0 9 2 0 0 10
LARS2-related condition 0 11 0 8 2 0 0 10
LIFR-related condition 0 10 0 6 4 0 0 10
LRP1B-related condition 0 21 0 10 0 0 0 10
MECOM-related condition 0 8 0 7 3 0 0 10
MRTFA-related condition 0 16 0 8 2 0 0 10
Male infertility with azoospermia or oligozoospermia due to single gene mutation 0 6 0 4 0 0 8 10
Malignant hypothermia 0 2 0 3 5 0 2 10
NEDD4L-related condition 0 12 0 9 1 0 0 10
NIN-related condition 0 14 0 5 5 0 0 10
NUP133-related condition 0 11 0 10 0 0 0 10
Neonatal insulin-dependent diabetes mellitus 0 7 0 5 4 1 1 10
PIEZO2-related condition 0 11 0 9 4 0 0 10
PNPT1-related condition 0 11 0 6 4 0 0 10
POGZ-related condition 0 7 0 8 2 0 0 10
PRDM16-related condition 0 24 0 8 2 0 0 10
RERE-related condition 0 19 0 7 3 0 0 10
RREB1-related condition 0 24 0 10 0 0 0 10
SAMD11-related condition 0 29 0 10 0 0 0 10
SDHA-related condition 0 25 0 7 3 0 0 10
SH3PXD2B-related condition 0 10 0 6 5 0 0 10
SLC25A13-related condition 0 4 0 1 9 0 0 10
SLC26A4-related condition 0 17 0 5 4 0 1 10
SOX10-related condition 0 6 0 7 3 0 1 10
SPECC1L-related condition 0 13 0 9 2 0 0 10
SPG11-related condition 0 10 0 6 6 0 1 10
SYNE4-related condition 0 5 0 6 5 0 1 10
TOP2B-related condition 0 10 0 9 1 0 0 10
TTN-Related Disorders 0 10 0 3 3 0 4 10
TYR-related condition 0 15 0 6 1 0 5 10
Transient Neonatal Diabetes, Dominant/Recessive 0 5 0 9 1 0 0 10
UBR4-related condition 0 39 0 10 0 0 0 10
UMOD-related condition 0 9 0 8 4 0 1 10
VIPAS39-related condition 0 4 0 3 8 0 0 10
ZEB2-related condition 0 3 0 8 2 0 0 10
ZSWIM6-related condition 0 14 0 10 0 0 0 10
capecitabine response - Toxicity 0 1 0 0 0 10 0 10
ACTN1-related condition 0 8 0 7 2 0 0 9
ALK-related condition 0 19 0 2 8 0 0 9
ANXA11-related condition 0 30 0 9 0 0 0 9
Abnormal central motor function 0 10 0 8 0 0 1 9
Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 0 45 0 9 0 0 0 9
BAAT-related condition 0 2 0 2 7 0 0 9
BRAF-related condition 0 13 0 8 3 0 0 9
BRD4-related condition 0 15 0 9 0 0 0 9
CAV3-related condition 0 3 0 8 5 0 0 9
CBL-related condition 0 15 0 7 2 0 0 9
CC2D2A-Related Disorders 0 11 0 4 5 0 0 9
CDH2-related condition 0 16 0 7 1 0 1 9
CDHR1-related condition 0 9 0 6 4 0 0 9
COL27A1-related condition 0 24 0 9 0 0 0 9
Cleft Lip +/- Cleft Palate, Autosomal Dominant 0 2 0 3 6 0 0 9
Colorectal cancer, susceptibility to 0 4 0 0 4 2 3 9
DDX3X-related condition 0 3 0 7 1 0 1 9
DEAF1-related condition 0 14 0 4 4 0 1 9
DLL1-related condition 0 13 0 7 3 0 0 9
DNAJC21-related condition 0 13 0 6 2 0 1 9
DSG2-related condition 0 12 0 7 2 0 0 9
DZIP1L-related condition 0 9 0 9 0 0 0 9
EFHC1-related condition 0 1 0 5 5 0 0 9
ENPP1-related condition 0 16 0 5 5 0 0 9
FCSK-related condition 0 35 0 8 1 0 0 9
FKBP10-related condition 0 12 0 7 2 0 1 9
FKRP-related condition 0 2 0 2 7 0 0 9
FOCAD-related condition 0 49 0 5 4 0 0 9
FOXG1-related condition 0 7 0 8 4 0 0 9
FSIP2-related condition 0 11 0 4 5 0 0 9
FYCO1-related condition 0 1 0 8 0 0 1 9
GANAB-related condition 0 8 0 6 4 0 0 9
GLIS3-related condition 0 5 0 6 4 0 0 9
IFT74-related condition 0 53 0 4 2 0 3 9
INF2-related condition 0 11 0 9 0 0 0 9
Iron accumulation in brain 0 15 0 4 2 0 3 9
KCNH1-related condition 0 10 0 5 5 0 0 9
KDM5C-related condition 0 4 0 8 0 0 1 9
KIAA1549-related condition 0 22 0 7 2 0 0 9
KMT2E-related condition 0 25 0 5 4 0 0 9
KRAS-related condition 0 5 0 7 3 0 0 9
LDLR-related condition 0 24 0 7 1 0 1 9
LPL-related condition 0 13 0 6 2 1 1 9
LRP4-related condition 0 6 0 2 7 0 0 9
Lethal congenital contractural syndrome Finnish type 0 15 0 7 3 0 0 9
MAGI2-related condition 0 12 0 8 3 0 0 9
MAPT-related condition 0 5 0 5 4 0 1 9
MC4R-related condition 0 14 0 7 1 0 2 9
MCM2-related condition 0 18 0 8 1 0 0 9
MEFV-related condition 0 12 0 4 5 0 3 9
MITF-related condition 0 21 0 1 8 0 0 9
MLC1-related condition 0 4 0 5 4 0 0 9
MRPS22-related condition 0 1 0 7 3 0 0 9
MYO1E-related condition 0 9 0 5 5 0 0 9
MYO3A-related condition 0 7 0 8 1 0 0 9
MYO7A-Related Disorders 0 4 0 6 0 0 4 9
Malaria, susceptibility to 0 24 0 6 0 0 3 9
NEK1-related condition 0 5 0 4 6 0 0 9
NSDHL-related condition 0 4 0 9 1 0 0 9
ORC1-related condition 0 5 0 8 0 0 1 9
PAH-related condition 0 25 0 8 0 0 3 9
PDGFRA-related condition 0 9 1 1 8 0 0 9
PEX10-related condition 0 2 0 0 9 0 0 9
PEX13-related condition 0 2 0 1 8 0 0 9
PGK1-related condition 0 1 0 8 2 0 0 9
PKD2-related condition 0 13 0 5 3 0 1 9
Parkinson Disease, Dominant 0 3 0 4 5 0 0 9
Parkinson Disease, Recessive 0 4 0 9 0 0 0 9
RAD51C-related condition 0 21 0 5 3 0 1 9
RECQL-related condition 0 15 0 2 7 0 0 9
REST-related condition 0 29 0 8 2 0 0 9
RNF43-related condition 0 8 0 9 1 0 0 9
ROR2-related condition 0 15 0 4 6 0 0 9
Rod-cone dystrophy 0 12 0 2 1 0 7 9
SALL1-related condition 0 7 0 9 0 0 0 9
SDCCAG8-related condition 0 3 0 2 7 0 0 9
SIPA1L3-related condition 0 8 0 9 0 0 0 9
SLC10A1-related condition 0 2 0 0 7 0 2 9
SNRNP200-related condition 0 13 0 8 1 0 0 9
SPTBN4-related condition 0 16 0 8 1 0 0 9
TBXAS1-related condition 0 5 0 6 4 0 0 9
TCF20-related condition 0 22 0 8 1 0 0 9
TRPV4-related condition 0 5 0 7 2 0 0 9
USP9X-related condition 0 7 0 8 1 0 0 9
VCL-related condition 0 5 0 5 3 0 1 9
VCP-related condition 0 3 0 7 4 0 0 9
VHL-related condition 0 14 0 3 6 0 0 9
XIRP2-related condition 0 33 0 9 0 0 0 9
ZNF341-related condition 0 16 0 9 0 0 0 9
ABCA1-related condition 0 11 0 7 1 0 0 8
ACE-related condition 0 27 0 5 3 0 0 8
ACTN2-related condition 0 10 0 5 4 0 0 8
ADCY10-related condition 0 12 0 5 3 0 0 8
ADCY5-related condition 0 7 0 3 5 0 0 8
AIP-related condition 0 9 0 3 6 0 0 8
ALDH5A1-related condition 0 4 0 5 4 0 0 8
AMER1-related condition 0 4 0 7 1 0 0 8
ANKH-related condition 0 4 0 6 2 0 0 8
ANLN-related condition 0 11 0 4 4 0 0 8
APC2-related condition 0 30 0 7 2 0 0 8
ARHGAP24-related condition 0 5 0 6 2 0 0 8
ATP6V0A2-related condition 0 5 0 4 6 0 0 8
ATP8A2-related condition 0 3 0 6 2 0 0 8
Abnormal bleeding 0 9 0 5 1 1 4 8
Abnormal cardiovascular system morphology 0 12 0 5 0 0 3 8
Abnormality of the skeletal system 0 3 0 7 0 0 1 8
BAP1-related condition 0 21 0 4 4 0 0 8
BMPR1A-related condition 0 5 0 4 5 0 0 8
BNC2-related condition 0 9 0 8 0 0 0 8
BRSK2-related condition 0 7 0 8 0 0 0 8
Breast and colorectal cancer, susceptibility to 0 3 0 4 0 1 5 8
CACNB4-related condition 0 2 0 6 4 0 0 8
CAPN3-related condition 0 8 0 2 6 0 0 8
CARMIL2-related condition 0 20 0 7 1 0 0 8
CASK-related condition 0 4 0 4 5 0 0 8
CASR-related condition 0 10 1 2 4 0 3 8
CENPF-related condition 0 16 0 4 4 0 0 8
CEP104-related condition 0 5 0 8 0 0 0 8
CEP135-related condition 0 10 0 6 2 0 0 8
CFI-related condition 0 5 0 8 1 0 0 8
CHRNA2-related condition 0 6 0 6 3 0 0 8
CHRNA4-related condition 0 5 0 3 7 0 0 8
CLCN4-related condition 0 4 0 7 0 0 1 8
COL5A2-related condition 0 17 0 1 7 0 0 8
CPT2-related condition 0 9 0 2 4 0 2 8
CSF2RB-related condition 0 15 0 6 2 0 0 8
CTNNA1-related condition 0 40 0 6 1 0 1 8
CTR9-related condition 0 12 0 7 1 0 0 8
Complement component 9 deficiency; Age related macular degeneration 15 0 1 0 4 3 0 1 8
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 0 12 0 4 4 0 0 8
DIP2C-related condition 0 19 0 7 1 0 0 8
DNAH2-related condition 0 27 0 8 0 0 0 8
DOK7-related condition 0 11 0 4 4 0 0 8
DSG1-related condition 0 22 0 8 0 0 0 8
DYRK1B-related condition 0 20 0 6 2 0 0 8
Death in infancy 0 0 0 0 0 0 8 8
Deep venous thrombosis 0 2 0 1 4 1 4 8
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension 0 3 0 4 4 0 0 8
Diabetes mellitus type 2, susceptibility to 0 0 0 0 1 7 0 8
ENG-related condition 0 7 0 5 2 0 3 8
ESPN-related condition 0 9 0 6 2 0 0 8
FAH-related condition 0 5 0 1 7 0 1 8
FANCD2-related condition 0 9 0 1 7 0 0 8
GRIN2A-related condition 0 9 0 3 7 0 0 8
GSR-related condition 0 5 0 8 0 0 0 8
Genetic non-acquired premature ovarian failure 0 1 0 4 0 0 5 8
HBB-related condition 0 14 0 4 3 0 1 8
HERC2-related condition 0 11 0 3 5 0 0 8
Hirschsprung Disease, Dominant 0 2 0 5 3 0 0 8
Hirschsprung disease, susceptibility to, 1; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; Pheochromocytoma; Familial medullary thyroid carcinoma; MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 0 63 2 6 0 0 0 8
Hypohidrotic Ectodermal Dysplasia, Recessive 0 1 0 7 1 0 0 8
IFIH1-related condition 0 12 0 5 3 0 1 8
KCNQ2-related condition 0 14 0 6 1 0 2 8
KRT5-related condition 0 9 0 6 1 0 1 8
LMF1-related condition 0 14 0 7 1 0 0 8
LRBA-related condition 0 7 0 2 7 0 0 8
LRRK2-related condition 0 5 0 7 1 0 0 8
LTBP4-related condition 0 13 0 6 2 0 0 8
MYO6-related condition 0 2 0 4 4 0 2 8
MYT1L-related condition 0 9 0 8 0 0 0 8
NDUFV1-related condition 0 8 0 6 1 0 1 8
NFIA-related condition 0 6 0 6 2 0 0 8
NIPBL-related condition 0 13 0 6 3 0 0 8
NLRP1-related condition 0 25 0 4 4 0 0 8
NLRP2-related condition 0 25 0 7 1 0 0 8
NPHS2-related condition 0 7 0 7 0 0 2 8
NTHL1-related condition 0 22 0 3 6 0 1 8
Non-obstructive azoospermia 0 1 0 2 4 0 2 8
OPHN1-related condition 0 0 0 7 2 0 0 8
OTOA-related condition 0 5 0 6 1 0 1 8
P4HB-related condition 0 2 0 8 0 0 0 8
PCDH19-related condition 0 4 0 4 4 0 0 8
PCSK1-related condition 0 15 0 2 5 0 1 8
PDE11A-related condition 0 6 0 5 4 0 0 8
PDGFRB-related condition 0 11 0 7 1 0 0 8
PEX26-related condition 0 2 0 1 7 0 0 8
PHKB-related condition 0 3 0 2 6 0 0 8
PKP2-related condition 0 16 0 5 3 0 1 8
POMGNT1-related condition 0 2 0 3 5 0 0 8
PTPRD-related condition 0 15 0 8 0 0 0 8
PTPRQ-related condition 0 4 0 3 5 0 0 8
PUS1-related condition 0 10 0 6 2 0 0 8
PYGM-related condition 0 5 0 2 5 0 1 8
Parkinson disease 13, autosomal dominant, susceptibility to 0 11 0 2 7 0 0 8
Progressive myoclonic epilepsy type 9; Lipodystrophy, partial, acquired, susceptibility to 0 23 0 2 6 0 0 8
RAB3GAP1-related condition 0 10 0 7 1 0 0 8
RAD50-related condition 0 9 0 1 8 0 0 8
RB1-related condition 0 9 0 4 5 0 0 8
RHOBTB2-related condition 0 15 0 3 4 0 1 8
SALL4-related condition 0 4 0 3 5 0 0 8
SCN10A-related condition 0 8 0 4 5 0 0 8
SCN5A-Related Disorders 0 9 0 4 2 0 2 8
SHANK3-related condition 0 6 0 8 1 0 0 8
SLX4-related condition 0 10 0 1 6 0 1 8
SPG7-related condition 0 8 0 4 1 0 3 8
SYNGAP1-related condition 0 11 0 8 0 0 0 8
Spastic Paraplegia, Recessive 0 2 0 5 3 0 0 8
TBC1D24-related condition 0 15 0 5 3 0 0 8
TBC1D8B-related condition 0 5 0 6 2 0 0 8
TERT-related condition 0 19 0 0 7 0 1 8
TGM6-related condition 0 5 0 8 0 0 0 8
TMPRSS3-related condition 0 6 0 6 1 0 2 8
TONSL-related condition 0 29 0 7 1 0 0 8
TUBB3-related condition 0 5 0 6 4 0 0 8
WDR81-related condition 0 8 0 5 3 0 0 8
WHRN-related condition 0 8 0 3 5 0 0 8
ZAP70-Related Severe Combined Immunodeficiency 0 18 0 5 3 0 0 8
ZBTB20-related condition 0 8 0 5 3 0 0 8
AARS2-related condition 0 6 0 6 2 0 0 7
ABHD12-related condition 0 4 0 3 6 0 0 7
ABL1-related condition 0 9 0 6 1 0 0 7
ACADS-related condition 0 5 0 5 2 0 0 7
ACADVL-related condition 0 14 0 4 0 0 3 7
ACTN4-related condition 0 8 0 5 3 0 0 7
ADAMTS2-related condition 0 12 0 2 5 0 0 7
ALDOB-related condition 0 5 0 1 6 0 0 7
AMACR-related condition 0 2 0 0 7 0 0 7
AMPD1-related condition 0 2 0 2 7 2 2 7
ANO5-related condition 0 5 0 3 4 0 0 7
AP3D1-related condition 0 25 0 3 4 0 0 7
ARHGEF1-related condition 0 11 0 6 1 0 0 7
ARPC1B-related condition 0 8 0 7 0 0 0 7
ASXL2-related condition 0 12 0 5 2 0 0 7
ATP13A2-related condition 0 9 0 3 5 0 0 7
ATP7A-related condition 0 16 0 4 4 0 0 7
ATR-related condition 0 35 0 5 3 0 0 7
Abnormal cerebral morphology 0 6 0 4 0 0 4 7
Abnormality of neuronal migration 0 3 0 5 3 0 1 7
BACH2-related condition 0 14 0 7 0 0 0 7
BBS12-related condition 0 8 0 2 5 0 0 7
BICD2-related condition 0 3 0 6 1 0 0 7
BLTP1-related condition 0 17 0 4 3 0 0 7
BPTF-related condition 0 21 0 5 2 0 0 7
BTD-related condition 0 3 0 6 3 0 0 7
C7-related condition 0 5 0 7 0 0 0 7
CACNA1F-related condition 0 18 0 5 2 0 0 7
CAMK2B-related condition 0 14 0 6 1 0 0 7
CARD14-related condition 0 6 0 6 1 0 0 7
CDKL5-related condition 0 10 0 3 6 0 0 7
CDKN1C-related condition 0 6 0 2 5 0 0 7
CENPJ-related condition 0 8 0 4 3 0 0 7
CFAP410-related condition 0 21 0 6 1 0 0 7
CILK1-related condition 0 4 0 6 1 0 0 7
CNOT1-related condition 0 17 0 6 1 0 0 7
COCH-related condition 0 4 0 5 2 0 0 7
COL13A1-related condition 0 19 0 6 1 0 0 7
CSMD1-related condition 0 16 0 7 0 0 0 7
CSMD3-related condition 0 17 0 7 0 0 0 7
CTDP1-related condition 0 13 0 5 2 0 0 7
Cone-Rod Dystrophy, Dominant 0 6 0 4 3 0 0 7
DIAPH3-related condition 0 11 0 4 3 0 0 7
DLC1-related condition 0 25 0 5 2 0 0 7
DNA2-related condition 0 12 0 7 2 0 0 7
DNAH5-related condition 0 7 0 1 6 0 0 7
DNMT1-related condition 0 8 0 5 2 0 0 7
DOCK8-related condition 0 9 0 1 6 0 0 7
DPYD-related condition 0 8 0 5 1 0 2 7
DTNA-related condition 0 6 0 6 3 0 0 7
Dyskeratosis Congenita, Recessive 0 5 0 5 2 0 0 7
Dystrophin deficiency 0 25 0 1 6 0 0 7
EFL1-related condition 0 16 0 7 0 0 0 7
ELP1-related condition 0 9 0 7 0 0 1 7
EP400-related condition 0 9 0 7 0 0 0 7
EPHA2-related condition 0 2 0 4 3 0 0 7
EPHB4-related condition 0 7 0 5 1 0 1 7
EPRS1-related condition 0 13 0 7 0 0 0 7
EPS8-related condition 0 9 0 5 3 0 0 7
Ectopic tissue 0 16 0 4 0 0 3 7
FASTKD2-related condition 0 3 0 3 4 0 1 7
FBXO11-related condition 0 8 0 5 2 0 0 7
FOXC1-related condition 0 1 0 4 3 0 0 7
Familial aortopathy 0 11 0 7 0 0 0 7
Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 0 22 0 7 0 0 0 7
Focal segmental glomerulosclerosis 4, susceptibility to 0 12 0 5 0 2 0 7
GATA5-related condition 0 8 0 5 2 0 0 7
GFM1-related condition 0 9 0 6 2 0 0 7
GJB2-related condition 0 17 0 5 2 0 1 7
GLA-related condition 0 4 0 2 4 0 2 7
GLI3-related condition 0 10 0 6 3 0 0 7
GPD1-related condition 0 3 0 5 1 0 1 7
GRN-related condition 0 4 0 7 0 0 0 7
HDAC4-related condition 0 10 0 5 2 0 0 7
HPS1-related condition 0 20 0 3 4 0 0 7
Hypergonadotropic hypogonadism 0 13 0 4 4 0 0 7
Hyperinsulinism, Dominant 0 2 0 3 4 0 0 7
Hypophosphatemic Rickets, Recessive 0 3 0 1 6 0 0 7
Hypoplasia of the iris 0 2 0 4 2 0 1 7
KCNV2-related condition 0 10 1 6 2 0 2 7
KIF7-related condition 0 6 0 1 6 0 0 7
LBR-related condition 0 6 0 7 1 0 0 7
LIPA-related condition 0 3 0 1 6 0 0 7
LRPPRC-related condition 0 24 0 4 5 0 0 7
MAGEL2-related condition 0 48 0 2 5 0 0 7
MAPK8IP3-related disorder 0 13 0 7 0 0 0 7
MBTPS2-related condition 0 0 0 6 1 0 0 7
MID1-related condition 0 5 0 7 1 0 0 7
MKKS-related condition 0 6 0 2 5 0 1 7
MRE11-related condition 0 6 0 3 4 0 0 7
MTTP-related condition 0 10 0 4 3 0 0 7
MYH7B-related condition 0 23 0 6 2 0 0 7
MYH8-related condition 0 4 0 7 0 0 0 7
MYO5A-related condition 0 7 0 4 3 0 0 7
MYSM1-related condition 0 12 0 5 2 0 0 7
Macrothrombocytopenia 0 8 0 2 2 0 3 7
Marfanoid habitus and intellectual disability 0 2 0 5 1 1 3 7
NACC1-related condition 0 12 0 6 0 0 1 7
NFATC1-related condition 0 24 0 7 0 0 0 7
NSD2-related condition 0 14 0 7 0 0 0 7
NTRK1-related condition 0 6 0 3 4 0 0 7
NUP160-related condition 0 10 0 4 3 0 0 7
NUP93-related condition 0 5 0 5 1 0 1 7
OFD1-related condition 0 5 0 3 4 0 0 7
PACS1-related condition 0 5 0 7 0 0 0 7
PALLD-related condition 0 5 0 3 6 0 0 7
PCK2-related condition 0 3 0 4 3 0 0 7
PCSK9-related condition 0 2 0 4 2 0 1 7
PDE4D-related condition 0 3 0 7 1 0 0 7
PHEX-related condition 0 4 0 7 0 0 0 7
PITRM1-related condition 0 22 0 7 0 0 0 7
PITX2-Related Eye Abnormalities 0 2 0 4 2 0 1 7
PKLR-related condition 0 7 0 3 3 0 3 7
PLOD2-related condition 0 3 0 5 2 0 0 7
PLXND1-related condition 0 27 0 6 1 0 0 7
PNKP-related condition 0 7 0 2 4 0 1 7
POLA1-related condition 0 7 0 5 2 0 0 7
POLR3B-related condition 0 3 0 6 0 0 2 7
PPARG-related condition 0 10 0 6 1 0 0 7
PRRT2-related condition 0 4 0 6 3 0 0 7
PTCH2-related condition 0 6 0 6 1 0 0 7
PYCR1-related condition 0 8 0 4 1 0 2 7
Pol III-related leukodystrophy 0 3 0 3 3 0 1 7
Pulmonary arterial hypertension associated with congenital heart disease 0 1 0 1 2 0 4 7
RASA1-related condition 0 4 0 6 0 0 1 7
RIMS1-related condition 0 7 0 4 5 0 0 7
RNF31-related condition 0 8 0 3 5 0 0 7
RTEL1-related condition 0 16 0 2 4 0 1 7
SCN8A-related condition 0 15 0 3 5 0 0 7
SH2B1-related condition 0 28 0 4 3 0 0 7
SLC12A1-related condition 0 9 0 5 3 0 0 7
SLC26A4-Related Disorders 0 7 0 4 2 0 2 7
SLC4A1-related condition 0 11 0 5 3 0 0 7
SLC7A9-related condition 0 8 0 6 0 0 1 7
SLCO1B1-related condition 0 3 0 7 0 1 0 7
SMARCAL1-related condition 0 5 0 0 7 0 0 7
SNX14-related condition 0 3 0 5 3 0 0 7
SOS2-related condition 0 14 0 6 1 0 0 7
SOX11-related condition 0 7 0 4 4 0 0 7
SPEN-related condition 0 22 0 6 1 0 0 7
STIL-related condition 0 3 0 1 7 0 0 7
Syndromic Microphthalmia, Dominant 0 2 0 0 7 0 0 7
TELO2-related condition 0 7 0 5 2 0 0 7
TENM3-related condition 0 6 0 6 1 0 0 7
TENM4-related condition 0 17 0 5 2 0 0 7
TGM1-related condition 0 13 0 6 2 0 1 7
TNFAIP3-related condition 0 5 0 5 3 0 0 7
TNNI3K-related condition 0 17 0 6 1 0 0 7
TNNT2-related condition 0 7 0 5 2 0 0 7
TOPORS-related condition 0 6 0 6 2 0 0 7
TRAP1-related condition 0 6 0 5 5 0 0 7
TRMU-related condition 0 12 0 2 5 0 0 7
TRPM1-related condition 0 16 0 7 2 0 0 7
TTC21B-related condition 0 4 0 1 6 0 0 7
UNC13A-related condition 0 8 0 6 1 0 0 7
VLDLR-related condition 0 13 0 4 3 0 0 7
WDR19-related condition 0 5 0 1 6 0 0 7
WNT10A-related condition 0 2 0 1 2 0 4 7
fluorouracil response - Other 0 1 0 0 0 7 0 7
ABCB7-related condition 0 3 0 6 1 0 0 6
ABCC9-related condition 0 9 0 5 1 0 0 6
ACADM-related condition 0 10 0 3 0 0 3 6
ACOX2-related condition 0 16 0 1 4 0 1 6
ADAMTS18-related condition 0 23 0 4 2 0 1 6
ADAMTS9-related condition 0 24 0 4 2 0 0 6
ALAS2-related condition 0 7 0 5 1 0 0 6
ALG13-related condition 0 11 0 4 2 0 0 6
ALG9-related condition 0 4 0 1 6 0 0 6
ANKZF1-related condition 0 23 0 5 1 0 0 6
AP5Z1-related condition 0 5 0 3 3 0 0 6
ARID2-related condition 0 5 0 6 0 0 0 6
ATP2B4-related condition 0 10 0 5 1 0 0 6
AXL-related condition 0 4 0 5 1 0 0 6
Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome 0 27 0 1 5 0 0 6
B3GLCT-related condition 0 1 0 3 3 0 0 6
BBS10-related condition 0 8 0 0 6 0 0 6
BIRC6-related condition 0 19 0 6 0 0 0 6
BIVM-ERCC5-related condition 0 8 0 4 2 0 0 6
BLK-related condition 0 3 0 3 4 0 1 6
BRWD3-related condition 0 2 0 5 1 0 0 6
Beta-plus-thalassemia 0 27 0 5 0 0 1 6
Bilateral sensorineural hearing impairment 0 13 0 4 2 0 0 6
Brugada syndrome (shorter-than-normal QT interval) 0 5 0 5 0 0 1 6
C3-related condition 0 17 0 5 2 0 0 6
C5-related condition 0 11 0 3 2 0 1 6
C8B-related condition 0 5 0 5 1 0 0 6
CAMTA1-related condition 0 13 0 6 0 0 0 6
CAVIN1-related condition 0 3 0 2 5 0 0 6
CDH3-related condition 0 13 0 4 2 0 0 6
CDT1-related condition 0 7 0 2 5 0 0 6
CELSR2-related condition 0 28 0 4 2 0 0 6
CEP250-related condition 0 22 0 5 1 0 0 6
CEP290-Related Disorders 0 12 0 5 1 0 1 6
CFH-related condition 0 12 0 5 1 0 0 6
CIC-related condition 0 28 0 5 1 0 0 6
CLCN2-related condition 0 8 0 6 1 0 0 6
CLIC5-related condition 0 11 0 6 1 0 0 6
CNOT3-related condition 0 7 0 6 0 0 0 6
CPAMD8-related condition 0 31 0 6 0 0 0 6
CPT1A-related condition 0 3 0 2 3 0 1 6
CTCF-related condition 0 3 0 5 1 0 0 6
CTNNB1-related condition 0 11 0 5 1 0 0 6
CTNND2-related condition 0 11 0 6 1 0 0 6
CTU2-related condition 0 21 0 4 3 0 0 6
CUL9-related condition 0 1 0 6 0 0 0 6
CYP7A1-related condition 0 3 0 1 6 0 0 6
CYP7B1-related condition 0 3 0 1 5 0 0 6
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 0 33 0 6 0 0 0 6
Coenzyme Q10 deficiency, Oculomotor Apraxia Type 0 2 0 2 4 0 0 6
Congenital Myasthenic Syndrome, Recessive 0 6 0 2 4 0 0 6
Corticosteroids response 0 0 0 0 0 6 0 6
DENND5A-related condition 0 6 0 5 1 0 0 6
DES-related condition 0 6 0 1 5 0 0 6
DHX38-related condition 0 7 0 5 1 0 0 6
DLX6-related condition 0 5 0 2 4 0 0 6
DNAJC13-related condition 0 8 0 6 0 0 0 6
DNM2-related condition 0 7 0 4 2 0 0 6
DSC2-related condition 0 9 0 2 4 0 0 6
DSCAML1-related condition 0 42 0 5 1 0 0 6
Dermatitis, atopic, 2; Ichthyosis vulgaris 0 5 0 4 1 0 1 6
ECEL1-related condition 0 4 0 4 2 0 0 6
EGF-related condition 0 11 0 5 1 0 0 6
EIF2AK3-related condition 0 10 0 3 3 0 0 6
EPG5-related condition 0 10 0 6 1 0 0 6
ERBB4-related condition 0 35 0 4 2 0 0 6
ETV6-related condition 0 7 0 4 2 0 0 6
FOXI1-related condition 0 9 0 6 0 0 0 6
FUCA1-related condition 0 3 0 4 2 0 0 6
Flurbiprofen response 0 0 0 0 0 6 0 6
GBE1-related condition 0 5 0 2 5 0 0 6
GLDC-related condition 0 16 0 4 2 0 0 6
GREB1L-related condition 0 18 0 6 0 0 0 6
GRIN2D-related condition 0 10 0 5 1 0 0 6
GRIP1-related condition 0 15 0 3 4 0 0 6
GUCY2D-related condition 0 0 0 0 6 0 0 6
GYG2-related condition 0 3 0 2 4 0 0 6
Glaucoma 1, open angle, G 0 4 0 2 2 0 2 6
HCN1-related condition 0 3 0 5 2 0 0 6
HECW2-related condition 0 16 0 6 0 0 0 6
HSD3B7-related condition 0 5 0 3 4 0 0 6
IARS1-related condition 0 10 0 6 0 0 0 6
ITSN2-related condition 0 21 0 5 1 0 0 6
Inherited prion disease 0 8 0 6 0 0 0 6
Intellectual Disability with Language Impairment and Autistic Features 0 1 0 0 6 0 0 6
Intellectual Disability, Dominant 0 1 0 0 6 0 0 6
KARS1-related condition 0 10 0 4 1 0 1 6
KATNB1-related condition 0 13 0 6 0 0 0 6
KCNB1-related condition 0 3 0 4 2 0 0 6
KCNC3-related condition 0 3 0 6 1 0 0 6
KCNK4-related condition 0 3 0 6 0 0 0 6
KCNQ4-related condition 0 2 0 6 0 0 0 6
KIF23-related condition 0 10 0 4 4 0 0 6
KIF26B-related condition 0 22 0 6 0 0 0 6
LAMA4-related condition 0 18 0 2 4 0 0 6
LAMB2-related condition 0 5 0 1 5 0 0 6
LAMB3-related condition 0 17 0 5 1 0 0 6
LCT-related condition 0 19 0 6 0 0 0 6
LMX1B-related condition 0 10 0 5 1 0 0 6
LOX-related condition 0 7 0 5 1 0 0 6
LPIN1-related condition 0 16 0 4 2 0 0 6
LYST-related condition 0 12 0 0 6 0 0 6
Lesinurad response 0 0 0 0 0 6 0 6
Low alkaline phosphatase 0 2 0 1 1 0 4 6
MAMLD1-related condition 0 0 0 5 1 0 0 6
MAN1B1-related condition 0 0 0 2 4 0 0 6
MASP1-related condition 0 7 0 2 4 0 0 6
MED17-related condition 0 3 0 6 0 0 0 6
MPL-related condition 0 6 0 4 2 0 0 6
MPO-related condition 0 0 0 5 1 0 0 6
MTR-related condition 0 2 0 4 2 0 0 6
MYOT-related condition 0 3 0 3 3 0 0 6
Methylmalonic acidemia with homocystinuria cblC 0 24 0 1 5 0 0 6
Myocardial infarction, susceptibility to; Congenital factor VII deficiency 0 2 0 4 0 1 1 6
NAXD-related condition 0 11 0 6 0 0 0 6
NCAPG2-related condition 0 9 0 6 0 0 0 6
NCSTN-related condition 0 3 0 6 0 0 0 6
NHLRC1-related condition 0 1 0 2 5 0 0 6
NLGN4X-related condition 0 5 0 4 2 0 0 6
NLRP12-related condition 0 6 0 3 4 0 0 6
NLRP5-related condition 0 9 0 6 0 0 0 6
NOD2-related condition 0 9 0 3 4 0 0 6
NRAP-related condition 0 28 0 5 1 0 0 6
Nephrotic range proteinuria 0 0 0 3 0 1 3 6
Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome 0 16 0 2 1 0 3 6
PCCB-related condition 0 5 0 1 4 0 1 6
PDE6C-related condition 0 9 0 5 2 0 0 6
PIGO-related condition 0 7 0 1 5 0 0 6
PIK3R2-related condition 0 4 0 5 2 0 0 6
PITPNM3-related condition 0 11 0 3 4 0 1 6
POLQ-related condition 0 13 0 5 1 0 0 6
POMC-related condition 0 10 0 4 3 0 2 6
PRKD1-related condition 0 4 0 6 1 0 0 6
PROM1-related condition 0 11 0 4 3 0 0 6
PRX-related condition 0 7 0 1 5 0 0 6
PTPRO-related condition 0 10 0 5 1 0 0 6
PTPRT-related condition 0 21 0 5 1 0 0 6
PXDN-related condition 0 1 0 3 3 0 0 6
Piroxicam response 0 0 0 0 0 6 0 6
Porencephaly 2; Hemorrhage, intracerebral, susceptibility to 0 2 0 5 1 0 0 6
Predisposition to cancer 0 10 0 2 2 1 3 6
Progressive cone dystrophy (without rod involvement) 0 2 0 2 2 0 2 6
RAB11B-related condition 0 5 0 6 0 0 0 6
RAB3GAP2-related condition 0 2 0 1 5 0 0 6
RAD51D-related condition 0 16 0 2 3 0 1 6
RHBDF2-related condition 0 5 0 5 2 0 0 6
RIPK4-related condition 0 6 0 6 0 0 0 6
SCAPER-related condition 0 15 0 6 0 0 0 6
SCARB2-related condition 0 2 0 2 5 0 0 6
SCN3A-related condition 0 27 0 3 4 0 0 6
SCNN1B-related condition 0 7 0 5 1 0 0 6
SELENON-related condition 0 2 0 3 4 0 0 6
SEMA3D-related condition 0 16 0 5 1 0 0 6
SGCA-related condition 0 1 0 0 5 0 1 6
SHH-related condition 0 3 0 2 3 0 1 6
SIL1-related condition 0 1 0 6 1 0 0 6
SIRT1-related condition 0 2 0 4 2 0 0 6
SIX5-related condition 0 16 0 4 3 0 0 6
SLC19A3-related condition 0 2 0 2 3 0 1 6
SLC25A22-related condition 0 1 0 1 5 0 0 6
SLC26A1-related condition 0 8 0 5 1 0 0 6
SLC2A1-related condition 0 5 0 2 4 0 0 6
SLC39A4-related condition 0 14 0 6 0 0 0 6
SLC6A1-related condition 0 11 0 5 2 0 0 6
SLIT2-related condition 0 20 0 4 2 0 0 6
SMAD4-related condition 0 11 0 4 2 0 0 6
SOX4-related condition 0 5 0 6 0 0 0 6
STS-related condition 0 1 0 6 0 0 0 6
STXBP1-related condition 0 2 0 5 1 0 0 6
SUFU-related condition 0 2 0 3 4 0 0 6
Seizure; Hypotonia; Neurodevelopmental Disability 0 1 0 6 0 0 0 6
Spastic paraplegia, autosomal dominant 0 8 0 3 3 0 0 6
Sudden unexplained death 0 6 0 4 3 1 0 6
Susceptibility to nonsyndromic otitis media 0 0 0 0 4 0 2 6
TBCK-related condition 0 18 0 4 2 0 0 6
TBX1-related condition 0 11 0 4 3 0 0 6
TG-related condition 0 28 0 5 1 0 0 6
TGFBR1-related condition 0 9 0 0 6 0 0 6
TGFBR2-related condition 0 13 0 2 3 0 1 6
THAP11-related condition 0 8 0 6 0 0 0 6
TMEM107-related condition 0 9 0 3 2 0 1 6
TNFRSF11A-related condition 0 7 0 3 5 0 0 6
TOP3A-related condition 0 18 0 5 1 0 0 6
TPO-related condition 0 6 0 6 0 0 0 6
TRIP11-related condition 0 8 0 0 6 0 0 6
TRPM4-related condition 0 9 0 4 3 0 0 6
TRPM6-related condition 0 4 0 5 2 0 0 6
TSFM-related condition 0 3 0 5 2 0 0 6
TYMP-related condition 0 10 0 5 1 0 0 6
UNC45A-related condition 0 19 0 6 0 0 0 6
USH1G-related condition 0 6 0 2 4 0 0 6
VARS2-related condition 0 6 0 5 1 0 1 6
VPS13C-related condition 0 31 0 5 1 0 0 6
WRN-related condition 0 4 0 0 6 0 0 6
XRCC2-related condition 0 9 0 4 4 0 0 6
maculopathy 0 6 0 3 0 0 3 6
ABCA2-related condition 0 6 0 3 2 0 0 5
ABCA7-related condition 0 10 0 3 1 0 1 5
ACTB-related condition 0 8 0 5 0 0 0 5
ADAMTS10-related condition 0 11 0 4 1 0 0 5
ADAMTS17-related condition 0 11 0 3 2 0 0 5
ADCY1-related condition 0 8 0 5 0 0 0 5
ADGRE2-related condition 0 12 0 4 1 0 0 5
AHI1-related condition 0 7 0 1 4 0 0 5
ALDH18A1-related condition 0 12 0 1 3 0 1 5
ALPK1-related condition 0 5 0 5 0 0 0 5
ANO5-Related Disorders 0 3 0 2 0 0 3 5
AP3B2-related condition 0 16 0 4 1 0 0 5
APBA2-related condition 0 11 0 5 0 0 0 5
ARHGEF18-related condition 0 19 0 5 0 0 0 5
ARIH1-related condition 0 3 0 3 2 0 0 5
ARMC5-related condition 0 10 0 4 1 0 0 5
ARMC9-related condition 0 12 0 4 1 0 0 5
ARSA-related condition 0 4 0 0 4 0 1 5
ARX-related condition 0 4 0 1 5 0 0 5
ASH1L-related condition 0 21 0 4 1 0 0 5
ATP2A1-related condition 0 6 0 4 3 0 0 5
ATP2A2-related condition 0 2 0 4 1 0 0 5
ATP2B2-related condition 0 8 0 4 1 0 0 5
ATP6AP1-related condition 0 0 0 1 4 0 0 5
Abnormal facial shape; Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Postnatal growth retardation; Neurodevelopmental abnormality 0 2 0 5 0 0 0 5
Abnormality of metabolism/homeostasis 0 13 0 4 0 0 1 5
Associated with severe COVID-19 disease 0 0 0 0 4 1 0 5
Autosomal dominant epilepsy 0 6 0 3 0 0 2 5
Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 0 8 0 2 3 0 0 5
Autosomal dominant retinitis pigmentosa 0 2 0 3 0 0 2 5
BBS4-related condition 0 5 0 0 5 0 0 5
BBS9-related condition 0 10 0 2 3 0 0 5
BCL11B-related condition 0 15 0 4 1 0 0 5
BEST1-related condition 0 10 0 2 3 0 0 5
BMP4-Related Syndromic Microphthalmia 0 0 0 0 5 0 0 5
BRCA2-Related Disorders 0 36 0 4 0 0 1 5
Beta thalassemia intermedia 0 6 0 5 0 0 0 5
Blau syndrome; Psoriatic arthritis, susceptibility to; Yao syndrome; Inflammatory bowel disease 1 0 0 0 1 4 0 0 5
Blood group, ER 0 0 0 0 0 5 0 5
C9-related condition 0 8 0 3 2 0 0 5
CABIN1-related condition 0 21 0 5 0 0 0 5
CACNA2D4-related condition 0 13 0 2 2 0 1 5
CBS-related condition 0 16 0 3 2 0 0 5
CDAN1-related condition 0 15 0 2 3 0 0 5
CDC14A-related condition 0 5 0 5 0 0 0 5
CEP120-related condition 0 4 0 4 2 0 0 5
CEP164-related condition 0 0 0 1 4 0 0 5
CFAP44-related condition 0 3 0 5 0 0 0 5
CFB-related condition 0 14 0 4 1 0 0 5
CHRNE-related condition 0 2 0 2 3 0 0 5
CLCN1-related condition 0 11 0 2 2 0 1 5
COL3A1-related condition 0 13 0 3 2 0 0 5
COMP-related condition 0 2 0 4 1 0 0 5
COQ2-related condition 0 8 0 1 3 0 1 5
COQ6-related condition 0 7 0 3 3 0 0 5
COQ8B-related condition 0 7 0 3 4 0 0 5
CPS1-related condition 0 5 0 3 3 0 0 5
CREB3L1-related condition 0 3 0 5 0 0 0 5
CSGALNACT1-related condition 0 9 0 5 0 0 0 5
CSPP1-related condition 0 6 0 2 3 0 0 5
CTSD-related condition 0 0 0 0 5 0 0 5
CUX2-related condition 0 14 0 5 0 0 0 5
Cancer of the pancreas 0 9 1 0 5 0 0 5
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome 0 4 0 1 4 0 0 5
DACT1-related condition 0 2 0 5 0 0 0 5
DCPS-related condition 0 1 0 5 0 0 0 5
DGAT1-related condition 0 7 0 4 1 0 0 5
DISP1-related condition 0 10 0 2 3 0 0 5
DNAH10-related condition 0 6 0 3 2 0 0 5
DRP2-related condition 0 4 0 4 0 0 1 5
DYM-related disorder 0 6 0 3 4 0 0 5
Debrisoquine, poor metabolism of 0 0 0 0 0 5 0 5
Decreased circulating carnitine concentration 0 19 0 1 0 0 4 5
Delayed puberty 0 0 0 1 0 0 4 5
Deutetrabenazine response 0 0 0 0 0 5 0 5
Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus 0 11 0 5 0 0 0 5
EARS2-related condition 0 2 0 2 3 0 0 5
EBP-related condition 0 2 0 5 0 0 1 5
EFTUD2-related condition 0 14 0 4 1 0 0 5
EGFR-related condition 0 3 0 3 2 0 0 5
EIF2AK4-related condition 0 4 0 5 0 0 0 5
EPM2A-related condition 0 0 0 1 4 0 0 5
ERCC5-related condition 0 6 0 5 1 0 0 5
EXPH5-related condition 0 9 0 5 0 0 0 5
F8-related condition 0 4 0 4 0 0 1 5
FAM111A-related condition 0 5 0 4 1 0 0 5
FAT3-related condition 0 24 0 5 0 0 0 5
FGFR2-related condition 0 13 0 4 1 0 0 5
FIG4-related condition 0 14 0 2 2 0 1 5
GABBR2-related condition 0 6 0 5 0 0 0 5
GARS1-related condition 0 4 0 3 2 0 0 5
GATA2-related condition 0 6 0 2 4 0 0 5
GLB1-related condition 0 6 0 2 3 0 0 5
GNE-related condition 0 4 0 0 5 0 0 5
GSN-related condition 0 11 0 4 1 0 0 5
HEPACAM-related condition 0 7 0 3 4 0 0 5
HK1-related condition 0 14 0 4 1 0 1 5
HNF4A-related condition 0 5 0 5 0 0 1 5
HOMER2-related condition 0 4 0 4 1 0 0 5
HPS3-related condition 0 8 0 3 3 0 0 5
HPS5-related condition 0 17 0 5 0 0 0 5
HPS6-related condition 0 9 0 4 1 0 0 5
HYOU1-related condition 0 16 0 3 2 0 0 5
Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 5 0 1 4 0 0 5
Hypofibrinogenemia 0 6 0 2 2 0 1 5
IDUA-related condition 0 5 0 1 3 0 1 5
IFT27-related condition 0 18 0 1 4 0 0 5
IL17RD-related condition 0 4 0 5 0 0 0 5
INPP5E-related condition 0 10 0 1 2 0 2 5
INTS1-related condition 0 9 0 3 2 0 0 5
IREB2-related condition 0 3 0 5 0 0 0 5
ITGA7-related condition 0 9 0 2 3 0 0 5
Immunodeficiency 28 0 18 0 3 2 0 0 5
Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 0 6 0 3 2 0 0 5
Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3 0 10 0 1 3 0 1 5
JAK2-related condition 0 13 0 3 2 0 0 5
JPH2-related condition 0 7 0 2 4 0 0 5
KCNH2-related condition 0 15 0 4 0 0 1 5
KCNJ10-related condition 0 2 0 1 5 0 0 5
KCNQ1-Related Disorders 0 4 0 4 0 0 1 5
KDM3B-related condition 0 10 0 4 1 0 0 5
KDM6A-related condition 0 6 0 4 1 0 0 5
KIF11-related condition 0 15 0 5 0 0 0 5
KL-related condition 0 6 0 5 1 0 0 5
KNL1-related condition 0 5 0 2 2 0 1 5
KRT74-related condition 0 4 0 5 0 0 0 5
KSR2-related condition 0 24 0 5 0 0 0 5
L1CAM-related condition 0 8 0 2 3 0 0 5
LAMP2-related condition 0 3 0 4 3 0 0 5
LARGE1-related condition 0 4 0 2 3 0 0 5
LIPE-related condition 0 8 0 3 2 0 0 5
LRTOMT-related condition 0 5 0 4 1 0 0 5
Late-onset citrullinemia 0 9 0 2 3 0 0 5
Left ventricular hypertrophy 0 5 0 0 3 0 2 5
MADD-related condition 0 5 0 3 2 0 0 5
MAPT-Related Spectrum Disorders 0 18 0 2 3 0 0 5
MBTPS1-related condition 0 17 0 5 0 0 0 5
MEGF10-related condition 0 5 0 5 0 0 0 5
MEN1-related condition 0 9 0 1 2 0 2 5
MERTK-related condition 0 5 0 5 2 0 0 5
MMUT-related condition 0 8 0 2 3 0 0 5
MOCS1-related condition 0 3 0 2 3 0 0 5
MYBPC3-Related Disorders 0 4 0 4 1 0 0 5
MYH2-related condition 0 8 0 3 2 0 0 5
MYO16-related condition 0 21 0 5 0 0 0 5
MYT1-related condition 0 10 0 5 0 0 0 5
Male infertility with spermatogenesis disorder 0 1 0 3 0 0 4 5
Microscopic hematuria 0 2 0 1 3 0 1 5
Mononeuropathy of the Median Nerve 0 4 0 0 5 0 0 5
NARS2-related condition 0 4 0 3 2 0 0 5
NBEA-related condition 0 17 0 4 1 0 0 5
NCOR1-related condition 0 12 0 4 1 0 0 5
NF2-related condition 0 7 0 1 4 0 0 5
NKX3-2-related condition 0 3 0 3 2 0 0 5
NUP205-related condition 0 12 0 3 2 0 0 5
P2RX2-related condition 0 8 0 4 1 0 0 5
P3H1-related condition 0 8 0 2 4 0 0 5
PAX1-related condition 0 6 0 5 0 0 0 5
PCDH12-related condition 0 9 0 5 0 0 0 5
PEPD-related condition 0 8 0 5 1 0 0 5
PEX12-related condition 0 3 0 1 3 0 1 5
PEX16-related condition 0 4 0 0 5 0 0 5
PEX19-related condition 0 3 0 1 4 0 0 5
PEX2-related condition 0 3 0 1 4 0 0 5
PEX7-related condition 0 3 0 1 4 0 0 5
PGAP3-related condition 0 3 0 3 2 0 0 5
PI4KA-related condition 0 4 0 5 0 0 0 5
PLCB1-related condition 0 2 0 2 3 0 0 5
PLG-related condition 0 7 0 4 3 0 0 5
PLVAP-related condition 0 7 0 5 0 0 0 5
PLXNB1-related condition 0 8 0 5 0 0 0 5
PODXL-related condition 0 13 0 4 1 0 0 5
PPCS-related condition 0 5 0 5 0 0 0 5
PROS1-related condition 0 2 0 1 4 0 0 5
PRPF4-related condition 0 1 0 5 0 0 0 5
PRPH-related condition 0 0 0 4 1 0 0 5
PRR12-related condition 0 21 0 5 0 0 0 5
PSTPIP1-related condition 0 2 0 2 3 0 0 5
Parkinson disease 5, autosomal dominant, susceptibility to 0 8 0 2 3 0 0 5
RARS1-related condition 0 3 0 3 2 0 0 5
RARS2-related condition 0 6 0 4 0 0 1 5
RBM10-related condition 0 5 0 4 1 0 0 5
RBP3-related condition 0 13 0 3 2 0 0 5
RGS9-related condition 0 5 0 3 2 0 0 5
RIPOR2-related condition 0 7 0 4 1 0 0 5
RNU4ATAC-related condition 0 7 0 3 2 0 0 5
RYR3-related condition 0 9 0 3 2 0 0 5
SAG-related condition 0 4 0 2 3 0 0 5
SCARB1-related condition 0 7 0 4 1 0 0 5
SCN11A-related condition 0 3 0 5 1 0 0 5
SCP2-related condition 0 8 0 4 2 0 0 5
SEC23B-related condition 0 3 0 1 4 0 0 5
SEMA3A-related condition 0 22 0 2 3 0 0 5
SEMA3C-related condition 0 10 0 4 1 0 0 5
SEMA3E-related condition 0 12 0 0 5 0 0 5
SETD1A-related condition 0 7 0 4 1 0 0 5
SGSH-related condition 0 5 0 2 3 0 0 5
SIM1-related condition 0 15 0 4 2 0 0 5
SIN3A-related condition 0 5 0 4 1 0 0 5
SLC12A6-related condition 0 14 0 4 1 0 0 5
SLC1A2-related condition 0 6 0 4 2 0 0 5
SLC20A2-related condition 0 10 0 5 0 0 0 5
SLC24A1-related condition 0 4 1 3 2 0 0 5
SLC37A4-related condition 0 1 0 0 5 0 1 5
SLC4A4-related condition 0 5 0 4 1 0 0 5
SLC6A8-related condition 0 9 0 3 2 0 0 5
SMARCB1-related condition 0 11 0 3 3 0 0 5
SOX17-related condition 0 5 0 5 0 0 0 5
SOX6-related condition 0 4 0 5 0 0 0 5
SPAST-related condition 0 3 0 4 0 0 1 5
SRP54-related condition 0 2 0 5 0 0 0 5
SRP72-related condition 0 20 0 1 4 0 0 5
STIM1-related condition 0 3 0 2 3 0 0 5
TALDO1-related condition 0 17 0 2 3 0 0 5
TANGO2-related condition 0 7 0 3 2 0 0 5
TBCE-related condition 0 5 0 2 4 0 0 5
TBX3-related condition 0 4 0 2 3 0 0 5
TBX5-related condition 0 4 0 5 1 0 0 5
TET2-related condition 0 15 0 4 1 0 0 5
TEX15-related condition 0 7 0 5 0 0 0 5
TMEM216-related condition 0 3 0 1 4 0 0 5
TMEM43-related condition 0 7 0 2 3 0 0 5
TNK2-related condition 0 3 0 4 1 0 0 5
TNNI3-related condition 0 2 0 3 0 0 2 5
TPM1-related condition 0 8 0 5 0 0 0 5
TRIM28-related condition 0 7 0 5 0 0 0 5
TRMT5-related condition 0 10 0 5 0 0 0 5
TRPC6-related condition 0 6 0 4 1 0 0 5
TRPM3-related condition 0 3 0 5 0 0 0 5
TSEN2-related condition 0 3 0 5 1 0 0 5
TSHR-related condition 0 11 0 4 1 0 0 5
TTR-related condition 0 2 0 4 3 0 0 5
TUBA1A-related condition 0 6 0 3 2 0 1 5
Tamoxifen response 0 0 0 0 0 5 0 5
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4 0 3 0 4 1 0 0 5
UBR1-related condition 0 16 0 3 2 0 0 5
USP7-related condition 0 2 0 4 2 0 0 5
WAS-related condition 0 1 0 3 3 0 0 5
WT1-related condition 0 14 0 1 4 0 0 5
Wiedemann-Rautenstrauch-like progeroid syndrome 0 3 0 4 0 0 1 5
ABCB1-related condition 0 3 0 4 0 0 0 4
ABCB6-related condition 0 6 0 3 0 0 1 4
ACAN-related condition 0 16 0 2 3 0 0 4
ACTG2-related condition 0 1 0 2 0 0 2 4
ACVRL1-related condition 0 6 0 4 0 0 0 4
ACY1-related condition 0 0 0 4 0 0 0 4
ADGRA3-related condition 0 15 0 3 1 0 0 4
ADSL-related condition 0 2 0 2 2 0 0 4
AFF4-related condition 0 6 0 1 3 0 0 4
AGPAT2-related condition 0 3 0 2 3 0 0 4
AGXT-related condition 0 9 0 2 2 0 0 4
AIFM1-related condition 0 3 0 2 1 0 1 4
AIRE-related condition 0 6 0 3 2 0 0 4
ALDH3A2-related condition 0 4 0 4 1 0 0 4
ALDH7A1-related condition 0 6 0 1 3 0 1 4
ALG8-related condition 0 0 0 1 3 0 0 4
ANO3-related condition 0 1 0 4 0 0 0 4
ANO6-related condition 0 7 0 2 0 0 2 4
AP3B1-related condition 0 2 0 0 4 0 0 4
AP4M1-related condition 0 4 0 0 4 0 0 4
ASAH1-related condition 0 8 0 2 2 0 0 4
ATN1-related condition 0 6 0 3 1 0 0 4
ATP10A-related condition 0 7 0 4 0 0 0 4
ATP13A3-related condition 0 10 0 4 0 0 0 4
ATP1A1-related condition 0 14 0 2 1 0 1 4
ATP5F1A-related condition 0 2 0 3 1 0 1 4
ATP6V0A4-related condition 0 5 0 3 1 0 0 4
ATP6V1A-related condition 0 6 0 3 1 0 0 4
Abnormality of connective tissue 0 1 0 2 1 0 1 4
BCOR-related condition 0 8 0 2 2 0 0 4
BCS1L-Related Disorders 0 1 0 1 0 0 3 4
BGN-related condition 0 5 0 2 2 0 0 4
BMP1-related condition 0 18 0 4 0 0 0 4
Behavior disorder 0 1 0 2 2 0 0 4
Breast and Ovarian Cancer Susceptibility 0 0 0 4 1 0 0 4
CANT1-related condition 0 3 0 4 1 0 0 4
CAPN5-related condition 0 13 0 3 1 0 0 4
CARD11-related condition 0 3 0 2 2 0 0 4
CCBE1-related condition 0 12 0 1 2 0 1 4
CCND2-related condition 0 0 0 3 0 0 1 4
CDKN2A-related condition 0 8 0 2 2 0 1 4
CEP41-related condition 0 1 0 0 4 0 0 4
CFAP43-related condition 0 1 0 3 1 0 0 4
CHAMP1-related condition 0 9 0 4 0 0 0 4
CHMP1A-related condition 0 4 0 3 1 0 0 4
CHRNB2-related condition 0 1 0 3 1 0 0 4
CHRNG-related condition 0 5 0 1 2 0 1 4
CLASP1-related condition 0 7 0 0 4 0 0 4
CLCN7-related condition 0 14 0 3 1 0 0 4
CLN3-related condition 0 2 0 1 3 0 0 4
CLTC-related condition 0 12 0 4 0 0 0 4
CNNM4-related condition 0 5 0 3 1 0 0 4
COASY-related condition 0 3 0 2 2 0 0 4
COL10A1-related condition 0 5 0 4 1 0 0 4
COL1A2-related condition 0 15 0 3 1 0 0 4
COLGALT1-related condition 0 11 0 3 1 0 0 4
COQ9-related condition 0 6 0 1 3 0 0 4
CP-related condition 0 5 0 2 2 0 0 4
CPA1-related condition 0 4 0 3 1 0 0 4
CRPPA-related condition 0 2 0 0 4 0 0 4
CRYM-related condition 0 0 0 2 2 0 0 4
CSF3R-related condition 0 3 0 1 3 0 0 4
CTC1-related condition 0 5 0 1 3 0 0 4
CYP17A1-related condition 0 8 0 3 1 0 0 4
CYP1B1-related condition 0 4 0 2 2 0 1 4
CYP24A1-related condition 0 0 0 2 2 0 0 4
CYP26B1-related condition 0 2 0 4 1 0 0 4
CYP2C19: no function 0 0 0 0 0 4 0 4
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion 0 13 0 1 3 0 0 4
Charcot-Marie-Tooth, Intermediate 0 3 0 2 2 0 0 4
Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1, susceptibility to 0 30 0 3 1 0 0 4
Common Variable Immune Deficiency, Dominant 0 7 0 1 2 0 2 4
Congenital Myasthenic Syndrome, Dominant/Recessive 0 5 0 3 1 0 0 4
Congenital NAD deficiency disorder 0 3 0 4 0 0 0 4
Congenital nuclear cataract 0 2 0 3 1 0 0 4
DDR2-related condition 0 1 0 3 1 0 0 4
DGKD-related condition 0 7 0 4 1 0 0 4
DHTKD1-related condition 0 4 0 3 1 0 0 4
DHX37-related condition 0 28 0 3 1 0 0 4
DIP2B-related condition 0 2 0 3 2 0 0 4
DLG4-related condition 0 4 0 4 0 0 0 4
DLL3-related condition 0 8 0 3 1 0 1 4
DLL4-related condition 0 3 0 4 0 0 0 4
DNAAF4-related condition 0 0 0 2 2 0 0 4
DNAH17-related condition 0 75 0 4 0 0 0 4
DNAH6-related condition 0 17 0 4 0 0 0 4
DONSON-related condition 0 8 0 2 2 0 0 4
DPYS-related condition 0 3 0 4 0 0 0 4
DVL3-related condition 0 9 0 3 1 0 0 4
Deafness 0 7 0 3 0 0 2 4
Disseminated atypical mycobacterial infection 0 18 0 4 0 0 0 4
ECHS1-related condition 0 6 0 2 2 0 0 4
EIF3F-related condition 0 3 0 1 3 0 0 4
ELP2-related condition 0 5 0 3 2 0 0 4
EML1-related condition 0 5 0 2 2 0 0 4
EPCAM-related condition 0 6 0 3 1 0 0 4
EPS8L2-related condition 0 10 0 2 2 0 0 4
ERCC1-related condition 0 0 0 2 1 0 1 4
ERCC2-Related Disorders 0 2 0 1 1 0 2 4
ERCC4-related condition 0 2 0 1 3 0 1 4
ERCC8-related condition 0 1 0 3 1 0 0 4
ESCO2-related condition 0 9 0 3 2 0 0 4
ETFDH-related condition 0 5 0 2 2 0 0 4
Early Infantile Epileptic Encephalopathy, Autosomal Dominant 0 3 0 1 3 0 0 4
Epidermodysplasia verruciformis, susceptibility to, 1 0 0 0 1 3 0 0 4
F11-related condition 0 14 0 2 2 0 0 4
F5-related condition 0 4 0 3 1 0 0 4
FANCB-related condition 0 5 0 2 2 0 0 4
FANCL-related condition 0 1 0 1 2 0 2 4
FDXR-related condition 0 5 0 3 0 0 1 4
FGD4-related condition 0 3 0 2 2 0 0 4
FLG-related disorders 0 4 0 3 0 0 1 4
FOLR1-related condition 0 2 0 2 4 0 0 4
FRMPD4-related condition 0 9 0 4 0 0 0 4
FSCN2-related condition 0 6 0 2 2 0 0 4
FZD2-related condition 0 3 0 4 0 0 0 4
Familial Atypical Hemolytic-Uremic Syndrome 0 1 0 2 0 0 2 4
Familial Autism Spectrum Disorder 0 0 0 0 1 0 3 4
GABRA1-related condition 0 0 0 2 2 0 0 4
GABRA2-related condition 0 7 0 2 2 0 0 4
GALNT2-related condition 0 5 0 3 1 0 0 4
GALT-related condition 0 5 0 3 1 1 2 4
GATA4-related disorder 0 12 0 2 2 0 0 4
GFAP-related condition 0 9 0 4 0 0 0 4
GIPC3-related condition 0 2 0 2 2 0 0 4
GJB3-related condition 0 4 0 4 2 0 0 4
GNA11-related condition 0 4 0 4 0 0 0 4
GNAO1-Related Condition 0 6 0 3 0 0 1 4
GP6-related condition 0 6 0 3 1 0 0 4
GPAA1-related condition 0 7 0 3 1 0 0 4
GPC3-related condition 0 8 0 2 2 0 0 4
GPSM2-related condition 0 6 0 1 4 0 0 4
GRID2-related condition 0 3 0 3 2 0 0 4
GRM1-related condition 0 5 0 4 0 0 0 4
GRM6-related condition 0 21 0 3 1 0 0 4
GTF2IRD1-related condition 0 13 0 4 0 0 0 4
Glutaric acidemia type 2C 0 6 0 3 0 0 2 4
Glycogen phosphorylase kinase deficiency 0 3 0 4 0 0 0 4
H6PD-related condition 0 3 0 3 1 0 0 4
HCCS-related condition 0 1 0 4 2 0 0 4
HCFC1-related condition 0 8 0 3 1 0 0 4
HCN2 related developmental and epileptic encephalopathy 0 0 0 0 0 0 4 4
HIP1-related condition 0 6 0 4 0 0 0 4
HOXB13-related condition 0 25 0 2 1 1 0 4
HRAS-related condition 0 13 0 4 1 0 0 4
Hematuria 0 0 0 2 1 0 1 4
Hirschsprung disease, susceptibility to, 4 0 4 0 3 1 2 0 4
Hyperinsulinism, Dominant/Recessive 0 4 0 3 1 0 0 4
Hypertension, essential, susceptibility to 0 0 0 0 0 4 0 4
Hypohidrotic Ectodermal Dysplasia, Dominant 0 4 0 2 2 0 0 4
IARS2-related condition 0 6 0 3 1 0 0 4
IHH-related condition 0 3 0 4 2 0 0 4
IL12RB2-related condition 0 20 0 3 1 0 0 4
IL6R-related condition 0 8 0 3 1 0 0 4
INPPL1-related condition 0 8 0 3 1 0 0 4
ITGA3-related condition 0 7 0 3 1 0 0 4
Inclusion Body Myopathy, Dominant 0 10 0 3 1 0 1 4
Intellectual disability, mild 0 0 0 1 3 1 2 4
Irinotecan response 0 0 0 0 0 4 0 4
Ischemic stroke 0 0 0 0 0 4 0 4
JAK1-related condition 0 18 0 3 1 0 0 4
KANK4-related condition 0 11 0 3 1 0 0 4
KCNC1-related condition 0 3 0 4 0 0 0 4
KCNQ5-related condition 0 16 0 4 0 0 0 4
KDM1A-related condition 0 9 0 2 2 0 0 4
KIF21A-related condition 0 7 0 3 0 0 1 4
KMT5B-related condition 0 7 0 4 0 0 0 4
KRIT1-related condition 0 8 0 2 1 0 1 4
KRT16-related condition 0 6 0 4 0 0 0 4
KRT85-related condition 0 2 0 4 0 0 0 4
LAGE3-related condition 0 4 0 2 2 0 0 4
LIG1-related condition 0 15 0 3 1 0 0 4
LIMK1-related condition 0 4 0 4 0 0 0 4
LIPC-related condition 0 1 0 2 2 0 0 4
LPIN2-related condition 0 9 0 3 1 0 0 4
LRIT3-related condition 0 6 0 3 1 0 0 4
LRP1-related condition 0 13 0 4 0 0 0 4
LRP6-related condition 0 7 0 4 1 0 0 4
LZTR1-related disorders 0 0 0 2 0 0 3 4
LZTS1-related condition 0 12 0 4 0 0 0 4
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 4 0 4
MAFB-related condition 0 7 0 1 3 0 0 4
MAN2B1-related condition 0 5 0 1 3 0 0 4
MAP2K1-related condition 0 8 0 3 1 0 0 4
MATR3-related condition 0 2 0 3 1 0 0 4
MBD4-related condition 0 8 0 1 2 0 1 4
MBD5 associated neurodevelopmental disorder 0 0 0 2 0 1 3 4
MCM4-related condition 0 10 0 3 1 0 0 4
MECR-related condition 0 4 0 4 0 0 0 4
MESP2-related condition 0 7 0 3 2 0 0 4
MLPH-related condition 0 11 0 4 1 0 0 4
MMACHC-related condition 0 5 0 2 3 0 0 4
MPI-related condition 0 0 0 2 2 0 1 4
MPV17-related condition 0 3 0 0 4 0 0 4
MRPS34-related condition 0 6 0 4 0 0 0 4
MTFMT-related condition 0 3 0 4 0 0 0 4
MYCN-related condition 0 6 0 2 2 0 0 4
MYH3-Related Disorders 0 5 0 3 0 0 2 4
MYH7-Related Disorders 0 3 0 2 0 0 2 4
MYO1A-related condition 0 1 0 1 3 0 0 4
MYOC-related condition 0 2 0 3 1 0 0 4
MYPN-related condition 0 17 0 2 2 0 0 4
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 9 0 3 0 0 1 4
Mandibulofacial dysostosis with alopecia; Migraine with or without aura, susceptibility to, 1 0 3 0 4 0 0 0 4
Mephenytoin, poor metabolism of 0 0 0 0 0 4 0 4
NAA10-related condition 0 2 0 3 1 0 1 4
NAGLU-related condition 0 2 0 1 3 0 0 4
NCAPD2-related condition 0 4 0 3 1 0 0 4
NCAPD3-related condition 0 6 0 2 2 0 0 4
NCF2-related condition 0 1 0 2 2 0 0 4
NCKAP1L-related condition 0 2 0 2 2 0 0 4
NDE1-related condition 0 2 0 3 1 0 0 4
NDST1-related condition 0 6 0 3 1 0 0 4
NDUFA9-related condition 0 3 0 3 1 0 0 4
NDUFS2-related condition 0 5 0 3 1 0 0 4
NFE2L2-related condition 0 6 0 3 1 0 0 4
NHERF1-related condition 0 4 0 2 2 0 0 4
NNT-related condition 0 10 0 3 1 0 0 4
NOS3-related condition 0 4 0 4 0 0 0 4
NPC2-related condition 0 0 0 0 4 0 0 4
NR1H4-related condition 0 2 0 0 4 0 0 4
NR2E3-related condition 0 12 0 4 0 0 0 4
NRAS-related condition 0 3 0 4 1 0 0 4
NSMF-related condition 0 4 0 4 0 0 0 4
NUBPL-related condition 0 4 0 3 2 0 0 4
Nemaline Myopathy, Recessive 0 4 0 2 2 0 0 4
Nongoitrous Euthyroid Hyperthyrotropinemia 0 0 0 2 0 0 2 4
Nonsyndromic cleft lip palate 0 0 0 0 0 0 4 4
OAS1-related condition 0 7 0 4 0 0 0 4
OGDHL-related condition 0 2 0 4 0 0 0 4
OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE 0 0 0 1 0 0 4 4
OTC-related condition 0 1 0 1 0 0 3 4
P3H2-related condition 0 10 0 3 1 0 0 4
PARS2-related condition 0 2 0 3 1 0 0 4
PAX3-related condition 0 9 0 4 0 0 0 4
PC-related condition 0 6 0 2 1 0 1 4
PDE10A-related condition 0 8 0 3 1 0 0 4
PDE1C-related condition 0 3 0 4 0 0 0 4
PDE3A-related condition 0 9 0 4 0 0 0 4
PDHX-related condition 0 5 0 4 1 0 0 4
PEX3-related condition 0 6 0 1 3 0 0 4
PIGV-related condition 0 2 0 2 1 0 1 4
PLCG2-related condition 0 10 0 4 1 0 0 4
PLS3-related condition 0 0 0 4 0 0 0 4
PNKD-related condition 0 4 0 4 1 0 0 4
POMT2-related condition 0 5 0 0 4 0 0 4
PPP2R5D-related condition 0 7 0 2 2 0 0 4
PQBP1-related condition 0 1 0 3 1 0 0 4
PRDM13-related condition 0 5 0 4 0 0 0 4
PREX2-related condition 0 10 0 4 0 0 0 4
PRKAR1B-related condition 0 4 0 4 0 0 0 4
PRKCSH-related condition 0 4 0 4 0 0 0 4
PRKDC-related condition 0 2 0 3 2 0 0 4
PRKN-related condition 0 2 0 4 0 0 0 4
PROP1-related condition 0 1 0 1 3 0 0 4
PRPF6-related condition 0 9 0 4 0 0 0 4
PSAP-related condition 0 2 0 1 3 0 0 4
PTPRC-related condition 0 4 0 2 4 0 0 4
PURA-related condition 0 2 0 4 0 0 0 4
Pancreatic hypoplasia 0 1 0 2 3 0 0 4
RBM20-related condition 0 9 0 3 1 0 0 4
RFWD3-related condition 0 9 0 2 2 0 0 4
RNASEH1-related condition 0 8 0