636:
619:
743:(44+xxy) also inherit an X-linked dominant condition and exhibit symptoms more similar to those of a female in terms of disease severity. The chance of passing on an X-linked dominant disorder differs between men and women. The sons of a man with an X-linked dominant disorder will all be unaffected (since they receive their father's Y chromosome), but his daughters will all inherit the condition. A woman with an X-linked dominant disorder has a 50% chance of having an affected fetus with each pregnancy, although in cases such as incontinentia pigmenti, only female offspring are generally viable.
635:
1102:
668:
52:
865:. Although complex disorders often cluster in families, they do not have a clear-cut pattern of inheritance. This makes it difficult to determine a person's risk of inheriting or passing on these disorders. Complex disorders are also difficult to study and treat because the specific factors that cause most of these disorders have not yet been identified. Studies that aim to identify the cause of complex disorders can use several methodological approaches to determine
758:
sons of a man with an X-linked recessive disorder will not be affected (since they receive their father's Y chromosome), but his daughters will be carriers of one copy of the mutated gene. A woman who is a carrier of an X-linked recessive disorder (XX) has a 50% chance of having sons who are affected and a 50% chance of having daughters who are carriers of one copy of the mutated gene. X-linked recessive conditions include the serious diseases
990:
618:
800:
Y-linked disorders are caused by mutations on the Y chromosome. These conditions may only be transmitted from the heterogametic sex (e.g. male humans) to offspring of the same sex. More simply, this means that Y-linked disorders in humans can only be passed from men to their sons; females can never
757:
X-linked recessive conditions are also caused by mutations in genes on the X chromosome. Males are much more frequently affected than females, because they only have the one X chromosome necessary for the condition to present. The chance of passing on the disorder differs between men and women. The
1131:
Gene therapy refers to a form of treatment where a healthy gene is introduced to a patient. This should alleviate the defect caused by a faulty gene or slow the progression of the disease. A major obstacle has been the delivery of genes to the appropriate cell, tissue, and organ affected by the
1594:
144:
There are well over 6,000 known genetic disorders, and new genetic disorders are constantly being described in medical literature. More than 600 genetic disorders are treatable. Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a
492:
Only one mutated copy of the gene will be necessary for a person to be affected by an autosomal dominant disorder. Each affected person usually has one affected parent. The chance a child will inherit the mutated gene is 50%. Autosomal dominant conditions sometimes have reduced
1132:
disorder. Researchers have investigated how they can introduce a gene into the potentially trillions of cells that carry the defective copy. Finding an answer to this has been a roadblock between understanding the genetic disorder and correcting the genetic disorder.
877:, starts by identifying genetic variants within patients and then determining the associated clinical manifestations. This is opposed to the more traditional phenotype-first approach, and may identify causal factors that have previously been obscured by clinical
1001:
A chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. An example of these disorders is
Trisomy 21 (the most common form of
552:. Each parent with a defective gene normally do not have symptoms. Two unaffected people who each carry one copy of the mutated gene have a 25% risk with each pregnancy of having a child affected by the disorder. Examples of this type of disorder are
477:
result from single-gene defects. Many such single-gene defects can decrease the fitness of affected people and are therefore present in the population in lower frequencies compared to what would be expected based on simple probabilistic calculations.
1586:
1033:, it is possible to anticipate possible disorders in children which direct medical professionals to specific tests depending on the disorder and allow parents the chance to prepare for potential lifestyle changes, anticipate the possibility of
1148:" (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves. There are well over 6,000 known genetic disorders, and new genetic disorders are constantly being described in medical literature.
1144:. Around 65% of people have some kind of health problem as a result of congenital genetic mutations. Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as "
149:. Around 65% of people have some kind of health problem as a result of congenital genetic mutations. Due to the significantly large number of genetic disorders, approximately 1 in 21 people are affected by a genetic disorder classified as "
1779:
3026:
856:
Genetic disorders may also be complex, multifactorial, or polygenic, meaning they are likely associated with the effects of multiple genes in combination with lifestyles and environmental factors. Multifactorial disorders include
628:
are generally inherited in an autosomal fashion because there are more non-X chromosomes than X-chromosomes, and a recessive fashion because the enzymes from the unaffected genes are generally sufficient to prevent symptoms in
547:
Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene and are referred to as
804:
Y-linked disorders are exceedingly rare but the most well-known examples typically cause infertility. Reproduction in such conditions is only possible through the circumvention of infertility by medical intervention.
461:
in early childhood, which could be described as a related dominant condition. When a couple where one partner or both are affected or carriers of a single-gene disorder wish to have a child, they can do so through
1123:
clinical trials having been completed, are ongoing, or have been approved worldwide. Despite this, most treatment options revolve around treating the symptoms of the disorders in an attempt to improve patient
827:. Because only egg cells contribute mitochondria to the developing embryo, only mothers (who are affected) can pass on mitochondrial DNA conditions to their children. An example of this type of disorder is
449:, is typically considered a dominant disorder, but children with two genes for achondroplasia have a severe and usually lethal skeletal disorder, one that achondroplasics could be considered carriers for.
3019:
4582:
3012:
5074:
3939:
1771:
684:
5555:
5291:
1569:
6058:
5210:
4043:
1065:
Not all genetic disorders directly result in death; however, there are no known cures for genetic disorders. Many genetic disorders affect stages of development, such as
497:, which means although only one mutated copy is needed, not all individuals who inherit that mutation go on to develop the disease. Examples of this type of disorder are
1449:
Kumar P, Radhakrishnan J, Chowdhary MA, Giampietro PF (August 2001). "Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department".
6832:
4930:
4575:
2099:
1672:
588:, are also determined in an autosomal recessive fashion. Some autosomal recessive disorders are common because, in the past, carrying one of the faulty genes led to a
6250:
723:. Males and females are both affected in these disorders, with males typically being more severely affected than females. Some X-linked dominant conditions, such as
6721:
6377:
5627:
5603:
4634:
2121:
Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, et al. (March 2006). "A SNP in the ABCC11 gene is the determinant of human earwax type".
5478:
2344:
557:
6512:
3831:
316:
4675:
892:
diseases. This does not mean that the genes cannot eventually be located and studied. There is also a strong environmental component to many of them (e.g.,
7168:
6992:
6303:
5091:
4568:
2826:
2695:
1540:
1014:
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed
6982:
5560:
5087:
4659:
1370:
3194:
97:. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or
6289:
5340:
5116:
4991:
514:
7068:
4957:
4742:
3435:
3265:
3136:
2417:
7246:
5384:
5176:
4719:
4670:
4431:
4194:
3626:
3126:
1077:, show no signs until adulthood. During the active time of a genetic disorder, patients mostly rely on maintaining or slowing the degradation of
653:) are generally autosomal dominant, because it is enough that some components are defective to make the whole structure dysfunctional. This is a
4350:
739:
or shortly after birth, and are therefore predominantly seen in females. Exceptions to this finding are extremely rare cases in which boys with
7211:
6827:
6069:
5966:
4036:
828:
2536:
7108:
6952:
6676:
5128:
4995:
4971:
3158:
2520:
2393:
2338:
2181:
1996:
842:
defect, as the mitochondria are mostly developed by non-mitochondrial DNA. These diseases most often follow autosomal recessive inheritance.
3598:
2069:
1294:
7189:
6544:
6448:
6427:
6236:
6156:
6019:
5316:
5231:
5193:
4788:
4765:
4469:
3917:
3507:
3229:
3210:
3131:
441:
types are (since the latter types are distinguished purely based on the chromosomal location of the gene). For example, the common form of
7073:
7052:
6714:
6370:
6355:
4884:
4856:
4840:
3584:
1050:
2447:
6171:
5920:
5859:
4966:
3143:
2561:
Ginn SL, Alexander IE, Edelstein ML, Abedi MR, Wixon J (February 2013). "Gene therapy clinical trials worldwide to 2012 - an update".
1562:
3004:
6977:
6458:
5954:
5410:
5303:
5079:
4639:
4029:
1884:
Kuliev A, Verlinsky Y (April 2005). "Preimplantation diagnosis: a realistic option for assisted reproduction and genetic practice".
720:
5718:
5713:
5164:
5152:
3234:
1196:
336:
6217:
1229:
7173:
6580:
6222:
5802:
5646:
5351:
5281:
5034:
4647:
4213:
4072:
3153:
3121:
2890:
2819:
4918:
466:
fertilization, which enables preimplantation genetic diagnosis to occur to check whether the embryo has the genetic disorder.
6707:
6399:
6363:
6330:
6284:
5845:
5641:
5492:
5102:
4946:
4707:
4550:
3743:
3168:
2993:
752:
6671:
3981:
3612:
2789:
2091:
1664:
7030:
6508:
6412:
6206:
6130:
6033:
5656:
5497:
5435:
5286:
5249:
4418:
4336:
4269:
4005:
2952:
518:
211:
6661:
5215:
3393:
3066:
1929:"Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases"
888:
On a pedigree, polygenic diseases do tend to "run in families", but the inheritance does not fit simple patterns as with
6453:
5940:
5831:
5598:
5425:
4498:
4148:
3712:
3654:
3640:
2983:
1125:
1078:
696:
530:
5995:
3214:
2326:
6212:
5377:
5328:
3293:
1617:"Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program"
763:
474:
371:
6916:
6867:
6776:
6260:
5203:
4877:
4865:
3769:
3239:
1334:
650:
2778:
6666:
6656:
5266:
5049:
4600:
3116:
2812:
947:
823:
This type of inheritance, also known as maternal inheritance, is the rarest and applies to the 13 genes encoded by
654:
7199:
6878:
6593:
3943:
3931:
3903:
3454:
3360:
176:, although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases. Some
7226:
6689:
6570:
5730:
5140:
4714:
4695:
4627:
4436:
4316:
4241:
4180:
3959:
3812:
3668:
3540:
3224:
2656:
1191:
1030:
33:
5925:
5009:
3764:
3219:
1548:
767:
573:
6537:
6417:
5057:
4819:
4760:
4176:
3849:
2738:
1101:
1038:
667:
506:
502:
346:
241:
231:
221:
1362:
153:" (usually defined as affecting less than 1 in 2,000 people). Most genetic disorders are rare in themselves.
6765:
5777:
5062:
4897:
4483:
4426:
4364:
4235:
4120:
3526:
3374:
3148:
2947:
2880:
1168:
1140:
Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a
1074:
1046:
1023:
952:
874:
657:
process, wherein a mutated gene product adversely affects the non-mutated gene product within the same cell.
642:
577:
498:
261:
3935:
3759:
7080:
6847:
6806:
5651:
5536:
5370:
4809:
4803:
4643:
4134:
3801:
3707:
3112:
984:
851:
835:
728:
589:
526:
400:
161:
121:
inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a
94:
6699:
2409:
569:
296:
6345:
6185:
5270:
4663:
4591:
4512:
4441:
4393:
4056:
3807:
3479:
3421:
3407:
3244:
3173:
2916:
1162:
814:
779:
771:
688:
404:
326:
138:
102:
4021:
1849:
Williams TN, Obaro SK (July 2011). "Sickle cell disease and malaria morbidity: a tale with two tails".
1029:
The basic aspects of a genetic disorder rests on the inheritance of genetic material. With an in depth
997:, the most common human condition due to aneuploidy. There are three chromosomes 21 (in the last row).
6479:
6390:
5751:
5541:
4691:
4622:
3975:
3947:
3826:
3785:
3493:
3379:
3039:
2988:
2978:
2926:
2799:
2613:
1940:
1186:
1141:
740:
646:
430:
146:
51:
7008:
6651:
6530:
5005:
5001:
4682:
4199:
3440:
2921:
2895:
2870:
2854:
2540:
908:
565:
450:
276:
114:
7130:
6801:
6407:
6265:
6255:
6088:
4979:
3521:
3318:
3249:
2687:
2637:
2586:
2146:
2061:
1909:
1831:
1753:
1615:
Johnson NE, Butterfield RJ, Mayne K, Newcomb T, Imburgia C, Dunn D, et al. (February 2021).
1302:
1070:
1042:
912:
542:
522:
487:
426:
422:
118:
4308:
2657:"A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus"
7146:
6822:
6817:
6102:
6005:
5930:
5906:
5793:
5020:
4893:
4869:
4849:
4845:
4322:
3579:
3299:
3061:
2875:
2835:
2749:
2679:
2629:
2578:
2516:
2503:
Milunsky A, Milunsky JM (2021). "Genetic
Counseling: Preconception, Prenatal, and Perinatal".
2485:
2389:
2334:
2307:
2281:
2263:
2228:
2177:
2138:
2043:
1992:
1966:
1901:
1866:
1823:
1745:
1710:
1646:
1518:
1466:
1424:
1276:
1106:
1019:
824:
818:
710:
64:
7097:
6941:
6843:
6792:
6747:
6635:
6619:
6144:
6049:
6000:
5981:
5935:
5892:
5878:
5864:
5689:
5684:
5670:
5622:
5511:
5459:
5454:
5449:
4913:
4908:
4873:
4833:
4605:
4455:
4227:
3189:
2931:
2671:
2621:
2570:
2508:
2477:
2439:
2297:
2255:
2218:
2210:
2169:
2130:
2033:
2025:
1956:
1948:
1893:
1858:
1813:
1737:
1702:
1636:
1628:
1508:
1500:
1458:
1414:
1404:
1266:
1256:
1086:
1015:
967:
732:
680:
581:
177:
69:
6897:
6606:
6601:
6315:
6083:
6064:
5817:
5708:
5703:
5608:
5473:
5430:
5401:
4901:
4423:
4255:
4106:
4078:
3876:
3662:
3573:
2962:
2885:
2774:
OMIM — Online
Mendelian Inheritance in Man, a catalog of human genes and genetic disorders
1201:
1090:
783:
775:
605:
561:
549:
510:
306:
286:
251:
2468:
Wyant KJ, Ridder AJ, Dayalu P (April 2017). "Huntington's
Disease-Update on Treatments".
1026:, can escape detection until the patient begins exhibiting symptoms well into adulthood.
2617:
2038:
2013:
1944:
989:
421:
gene. Single-gene disorders can be passed on to subsequent generations in several ways.
7194:
6463:
6422:
5576:
5227:
5135:
5067:
4889:
4861:
3332:
3082:
2302:
2285:
2223:
2198:
1961:
1928:
1897:
1641:
1616:
1513:
1488:
1419:
1392:
1271:
1244:
893:
692:
446:
1987:
Griffiths AJ, Wessler SR, Carroll SB, Doebley J (2012). "2: Single-Gene
Inheritance".
1741:
1706:
7240:
6987:
6739:
6495:
6116:
5393:
5235:
4925:
4687:
4560:
4379:
3682:
3304:
2641:
1835:
1261:
1221:
1066:
1054:
1045:
can detect the presence of characteristic abnormalities in fetal development through
1003:
994:
957:
937:
878:
858:
724:
181:
17:
2691:
2590:
1757:
1527:(calculated from "1 in 17" rare disorders and "80%" of rare disorders being genetic)
6124:
5244:
5171:
4654:
2150:
1913:
1145:
1120:
1114:
942:
927:
922:
839:
759:
716:
676:
609:
597:
356:
157:
150:
126:
2743:
2675:
1632:
719:. Only a few disorders have this inheritance pattern, with a prime example being
6932:
6324:
4506:
2366:
972:
438:
2754:
2029:
1952:
1818:
1801:
156:
Genetic disorders are present before birth, and some genetic disorders produce
6614:
6588:
6553:
6443:
4942:
4283:
4162:
3554:
2512:
2481:
2259:
1034:
882:
494:
470:
381:
98:
2246:
Allison AC (October 2009). "Genetic control of resistance to human malaria".
2014:"A review of key terminology and definitions used for birth defects globally"
1862:
1391:
Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH (March 2021).
5159:
5147:
5123:
4000:
2957:
2625:
2173:
1295:"What are the different ways in which a genetic condition can be inherited?"
889:
870:
838:(particularly when symptoms develop in early life) are actually caused by a
795:
702:
672:
134:
5362:
2768:
2683:
2633:
2582:
2489:
2267:
2232:
2214:
2142:
2047:
1970:
1905:
1870:
1827:
1749:
1714:
1650:
1522:
1470:
1428:
1280:
2311:
1693:
Keane MG, Pyeritz RE (May 2008). "Medical management of Marfan syndrome".
1397:
American
Journal of Medical Genetics. Part C, Seminars in Medical Genetics
1326:
6731:
6197:
5277:
5111:
4983:
1409:
1180:
1119:
The treatment of genetic disorders is an ongoing battle, with over 1,800
1082:
932:
866:
862:
778:. X-linked recessive conditions can sometimes manifest in females due to
553:
454:
442:
434:
418:
165:
130:
110:
86:
2784:
1504:
7160:
6735:
4492:
4477:
4463:
4449:
4412:
4387:
4373:
4358:
4344:
4330:
4302:
4249:
4188:
4142:
4092:
2849:
2199:"Evaluating candidate agents of selective pressure for cystic fibrosis"
1157:
962:
917:
625:
601:
458:
173:
169:
2730:
641:
On the other hand, hereditary defects in structural proteins (such as
6179:
6138:
6027:
6013:
5771:
5765:
5759:
5745:
5739:
5505:
5486:
5467:
5443:
5419:
5323:
5029:
4987:
4277:
4263:
4221:
4207:
4170:
4156:
4086:
3795:
3790:
3415:
3401:
3346:
3326:
3163:
2785:
CDC's
National Center on Birth Defects and Developmental Disabilities
2574:
1462:
1053:
which involve inserting probes or needles into the uterus such as in
903:
585:
82:
6522:
2804:
2773:
2012:
Malherbe HL, Modell B, Blencowe H, Strong KL, Aldous C (June 2023).
715:
X-linked dominant disorders are caused by mutations in genes on the
2134:
7205:
6165:
6110:
6096:
6077:
5989:
5948:
5914:
5900:
5886:
5872:
5853:
5839:
5825:
5811:
5697:
5678:
5664:
5635:
5616:
5592:
5335:
5311:
4937:
4737:
4702:
4128:
4114:
4100:
3911:
3820:
3676:
3648:
3634:
3620:
3606:
3592:
3387:
3354:
2781:
Office of Rare
Diseases (ORD), National Institutes of Health (NIH)
1100:
1006:), in which there is an extra copy of chromosome 21 in all cells.
988:
666:
593:
429:, however, may affect inheritance patterns. The divisions between
59:
Diagram featuring examples of a disease located on each chromosome
6968:
6907:
6888:
6858:
6756:
6297:
6278:
6274:
6244:
6230:
5975:
5549:
5530:
5298:
5222:
5198:
4828:
4783:
4536:
4531:
3925:
3897:
3701:
3548:
3534:
3515:
3501:
3487:
3473:
3448:
3429:
3368:
3340:
3312:
2410:"Genetic Disorders: What Are They, Types, Symptoms & Causes"
90:
27:
Health problem caused by one or more abnormalities in the genome
6703:
6526:
6359:
5366:
4564:
4025:
3008:
2808:
1587:"OMIM Entry #144010 – HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FCHL2"
604:. Such disorders include cystic fibrosis, sickle cell disease,
81:
is a health problem caused by one or more abnormalities in the
433:
types are not "hard and fast", although the divisions between
2604:
Verma IM (August 2013). "Medicine. Gene therapy that works".
2795:
Global Genes
Project, Genetic and Rare Diseases Organization
2794:
1069:, while others result in purely physical symptoms such as
1049:, or detect the presence of characteristic substances via
101:. The mutation responsible can occur spontaneously before
2790:
Genetic
Disease Information from the Human Genome Project
1245:"A Polygenic Approach to the Study of Polygenic Diseases"
770:, as well as common and less serious conditions such as
1487:
Jackson M, Marks L, May GH, Wilson JB (December 2018).
2333:(9e ed.). McGraw Hill Professional. p. 725.
533:. Birth defects are also called congenital anomalies.
194:
5292:
Junctional epidermolysis bullosa with pyloric atresia
2388:. Philadelphia PA: Saunders. pp. 144, 145, 146.
1991:(10th ed.). New York: W.H. Freeman and Company.
1665:"OMIM Entry #162200 – NEUROFIBROMATOSIS, TYPE I; NF1"
1393:"An online compendium of treatable genetic disorders"
801:
be affected because they do not possess Y-allosomes.
691:, both the female (XX) and male (XY) versions of the
133:
inheritance. Very few disorders are inherited on the
2720:
834:
It is important to stress that the vast majority of
543:
Autosomal dominant § Autosomal recessive allele
113:
from two parents who are carriers of a faulty gene (
7182:
7159:
7139:
7123:
7090:
7061:
7045:
7023:
7001:
6967:
6931:
6906:
6887:
6857:
6791:
6755:
6746:
6644:
6628:
6560:
6488:
6472:
6436:
6398:
6314:
6196:
6155:
6048:
5965:
5801:
5792:
5729:
5584:
5575:
5522:
5409:
5400:
5259:
5186:
5101:
5048:
5019:
4956:
4818:
4802:
4775:
4752:
4729:
4614:
4599:
4523:
4404:
4294:
4064:
3992:
3967:
3958:
3889:
3869:
3862:
3842:
3778:
3752:
3736:
3727:
3693:
3565:
3465:
3285:
3278:
3258:
3203:
3182:
3104:
3095:
3075:
3054:
3047:
2971:
2940:
2909:
2863:
2842:
2779:
Genetic and Rare Diseases Information Center (GARD)
2724:
584:. Certain other phenotypes, such as wet versus dry
63:
44:
3940:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3
1728:Walker FO (January 2007). "Huntington's disease".
1022:, or during early childhood however some, such as
521:(a highly penetrant autosomal dominant disorder),
93:(monogenic) or multiple genes (polygenic) or by a
2327:"The Thalassemias: Disorders of Globin Synthesis"
488:Autosomal dominant § Autosomal dominant gene
125:. Some disorders are caused by a mutation on the
117:inheritance) or from a parent with the disorder (
4931:Congenital insensitivity to pain with anhidrosis
2062:"Inheritance Patterns for Single Gene Disorders"
2286:"The heterozygote advantage in phenylketonuria"
1802:"Autosomal recessive polycystic kidney disease"
1183:(the Frequency of Inherited Disorders database)
2373:. Treasure Island (FL): StatPearls Publishing.
1886:Current Opinion in Obstetrics & Gynecology
1243:Lvovs D, Favorova OO, Favorov AV (July 2012).
558:medium-chain acyl-CoA dehydrogenase deficiency
453:is also considered a recessive condition, but
6715:
6538:
6371:
5378:
4576:
4037:
3832:Yemenite deaf-blind hypopigmentation syndrome
3020:
2820:
1806:American Journal of Obstetrics and Gynecology
317:Autosomal recessive polycystic kidney disease
168:. The opposite of a hereditary disease is an
8:
4676:Gonadotropin-releasing hormone insensitivity
2386:Thompson & Thompson Genetics in Medicine
2164:Mitton JB (2002). "Heterozygous Advantage".
1982:
1980:
1167:with over a third of individuals displaying
6993:Transient bullous dermolysis of the newborn
5092:Congenital amegakaryocytic thrombocytopenia
2092:"Japanese Scientists Identify Ear Wax Gene"
1563:"Prevalence and incidence of rare diseases"
6983:Recessive dystrophic epidermolysis bullosa
6752:
6722:
6708:
6700:
6545:
6531:
6523:
6378:
6364:
6356:
5798:
5581:
5406:
5385:
5371:
5363:
5177:Autoimmune lymphoproliferative syndrome 1A
4815:
4660:Follicle-stimulating hormone insensitivity
4611:
4583:
4569:
4561:
4044:
4030:
4022:
3964:
3866:
3733:
3282:
3101:
3051:
3027:
3013:
3005:
2827:
2813:
2805:
2721:
2470:Current Neurology and Neuroscience Reports
2444:Centers for Disease Control and Prevention
2367:"Leber Hereditary Optic Neuropathy (LHON)"
1156:The earliest known genetic condition in a
41:
6290:Progressive symmetric erythrokeratodermia
5341:X-linked severe combined immunodeficiency
5117:TNF receptor associated periodic syndrome
4537:Mitochondrial pyruvate carrier deficiency
2384:Nussbaum R, McInnes R, Willard H (2007).
2301:
2222:
2037:
1960:
1927:Ĺ imÄŤĂková D, Heneberg P (December 2019).
1817:
1772:"OMIM Entry #603903 – SICKLE CELL ANEMIA"
1640:
1512:
1418:
1408:
1270:
1260:
515:hereditary nonpolyposis colorectal cancer
196:Prevalence of some single-gene disorders
6304:Clouston's hidrotic ectodermal dysplasia
3436:Posterior polymorphous corneal dystrophy
3266:Autoimmune polyendocrine syndrome type 1
2539:. Harvard Medical School. Archived from
2197:Poolman EM, Galvani AP (February 2007).
5129:Selective immunoglobulin A deficiency 2
4720:Aspirin-exacerbated respiratory disease
4432:Recessive multiple epiphyseal dysplasia
4195:Congenital endothelial dystrophy type 2
3627:Anterior segment mesenchymal dysgenesis
2203:Journal of the Royal Society, Interface
1213:
614:
6828:Spondyloepiphyseal dysplasia congenita
6251:Keratitis–ichthyosis–deafness syndrome
6070:Congenital absence of the vas deferens
5304:EDAR hypohidrotic ectodermal dysplasia
5232:Familial exudative vitreoretinopathy 4
4789:Familial exudative vitreoretinopathy 1
2800:List of Genetic Disorders - Genome.gov
457:carriers have increased resistance to
7109:Ullrich congenital muscular dystrophy
6953:Ullrich congenital muscular dystrophy
6677:Autosomal recessive polycystic kidney
4996:Hereditary hemorrhagic telangiectasia
4972:Persistent MĂĽllerian duct syndrome II
4743:Jansen's metaphyseal chondrodysplasia
3159:X-linked adrenal hypoplasia congenita
32:For a list of genetic disorders, see
7:
7190:Congenital stromal corneal dystrophy
5317:Nevoid basal-cell carcinoma syndrome
4766:Familial hypocalciuric hypercalcemia
3211:Greig cephalopolysyndactyly syndrome
1482:
1480:
1444:
1442:
1440:
1438:
1357:
1355:
1353:
1351:
1321:
1319:
735:, are usually fatal in males either
187:, are hereditary genetic disorders.
7074:Otospondylomegaepiphyseal dysplasia
7053:Schmid metaphyseal chondrodysplasia
5080:Surfactant metabolism dysfunction 4
3585:Iridogoniodysgenesis, dominant type
829:Leber's hereditary optic neuropathy
6393:and lysosomal structural disorders
5921:Jervell and Lange-Nielsen syndrome
5860:Jervell and Lange-Nielsen syndrome
5329:BMPR1A juvenile polyposis syndrome
5250:LDLR Familial hypercholesterolemia
2537:"Diagnostic Tests – Amniocentesis"
2290:American Journal of Human Genetics
2102:from the original on 21 March 2023
1898:10.1097/01.gco.0000162189.76349.c5
201:Disorder prevalence (approximate)
25:
7069:Weissenbacher–Zweymüller syndrome
6978:Epidermolysis bullosa dystrophica
6833:Spondyloepimetaphyseal dysplasia,
6459:D-bifunctional protein deficiency
4640:Luteinizing hormone insensitivity
2440:"Facts about Down Syndrome | CDC"
1707:10.1161/CIRCULATIONAHA.107.693523
721:X-linked hypophosphatemic rickets
685:nomenclature of genetic disorders
592:against an infectious disease or
7169:Junctional epidermolysis bullosa
6331:Nephrogenic diabetes insipidus 2
5719:Congenital insensitivity to pain
5714:Paroxysmal extreme pain disorder
5642:Hypokalemic periodic paralysis 2
5493:Hypokalemic periodic paralysis 1
4708:Nephrogenic diabetes insipidus 1
4242:Thyroid dyshormonogenesis type 1
3599:Lymphedema–distichiasis syndrome
3195:Tricho–rhino–phalangeal syndrome
3169:Familial partial lipodystrophy 3
2655:Towle I, Irish JD (April 2019).
1989:Introduction to Genetic Analysis
1575:from the original on 2008-11-18.
1262:10.32607/20758251-2012-4-3-59-71
1232:from the original on 2022-07-15.
1197:Population groups in biomedicine
634:
617:
337:Lysosomal acid lipase deficiency
160:, but birth defects can also be
50:
7174:Laryngoonychocutaneous syndrome
6581:Asphyxiating thoracic dysplasia
6223:Hypoplastic left heart syndrome
6034:Thyrotoxic periodic paralysis 2
5647:Hyperkalemic periodic paralysis
5498:Thyrotoxic periodic paralysis 1
4648:Male-limited precocious puberty
4419:Multiple epiphyseal dysplasia 4
4214:Glucose-galactose malabsorption
3863:(0) Other transcription factors
3154:Estrogen insensitivity syndrome
3122:Androgen insensitivity syndrome
2891:Single-nucleotide polymorphisms
2701:from the original on 2023-06-04
2505:Genetic Disorders and the Fetus
2450:from the original on 2017-07-28
2420:from the original on 2023-11-01
2365:Shemesh A, Sood G, Margolin E.
2347:from the original on 2023-02-20
2072:from the original on 2019-07-01
1782:from the original on 2021-04-26
1675:from the original on 2021-03-08
1597:from the original on 2021-03-09
1545:Genetics and Louisiana Families
1373:from the original on 2019-12-17
1337:from the original on 2020-01-28
695:(bottom right), as well as the
392:Values are for liveborn infants
7247:Genetic diseases and disorders
6400:Peroxisome biogenesis disorder
6285:Erythrokeratodermia variabilis
6237:Charcot–Marie–Tooth disease X1
5941:Familial atrial fibrillation 3
5846:Spinocerebellar ataxia type-13
5832:Familial atrial fibrillation 7
5599:Familial hemiplegic migraine 3
5426:Familial hemiplegic migraine 1
5035:Leber's congenital amaurosis 1
4947:Gastrointestinal stromal tumor
3744:Hyperimmunoglobulin E syndrome
3149:PHA1AD pseudohypoaldosteronism
2994:Human Genome Diversity Project
1489:"The genetic basis of disease"
873:associations. One method, the
753:X-linked recessive inheritance
1:
7031:Multiple epiphyseal dysplasia
6480:X-linked adrenoleukodystrophy
6413:Neonatal adrenoleukodystrophy
6131:Vitelliform macular dystrophy
5657:Potassium-aggravated myotonia
5436:Spinocerebellar ataxia type-6
4351:Allan–Herndon–Dudley syndrome
4270:Lysinuric protein intolerance
4006:Atrichia with papular lesions
2953:Genome-wide association study
2769:Public Health Genomics at CDC
2248:Current Opinion in Immunology
2018:Journal of Community Genetics
1742:10.1016/S0140-6736(07)60111-1
519:hereditary multiple exostoses
212:Familial hypercholesterolemia
6454:Mevalonate kinase deficiency
4499:Acrodermatitis enteropathica
4149:Arterial tortuosity syndrome
3713:Popliteal pterygium syndrome
3655:Enlarged vestibular aqueduct
3494:Waardenburg syndrome 1&3
3279:(3) Helix-turn-helix domains
3038:relating to deficiencies of
2984:International HapMap Project
2676:10.1016/j.jhevol.2019.01.002
2563:The Journal of Gene Medicine
1633:10.1212/WNL.0000000000011425
1547:. lsuhsc.edu. Archived from
531:acute intermittent porphyria
417:) is the result of a single
6218:Hallermann–Streiff syndrome
6213:Oculodentodigital dysplasia
5778:Pseudohypoaldosteronism 1AR
4628:Congenital hypothyroidism 1
4181:Hereditary elliptocytosis 4
3813:Premature ovarian failure 7
3669:Premature ovarian failure 3
3541:Congenital hypothyroidism 2
1800:Swanson K (November 2021).
1541:"An Introduction to Cancer"
1073:. Other disorders, such as
764:Duchenne muscular dystrophy
675:showing an overview of the
475:inborn errors of metabolism
372:Duchenne muscular dystrophy
7263:
6667:Orofaciodigital syndrome 1
6657:Primary ciliary dyskinesia
5287:Glanzmann's thrombasthenia
5267:Immunoglobulin superfamily
4919:Rabson–Mendenhall syndrome
4601:G protein-coupled receptor
4177:Hereditary spherocytosis 4
3960:Transcription coregulators
3730:with minor groove contacts
3117:Thyroid hormone resistance
2664:Journal of Human Evolution
2090:Wade N (29 January 2006).
2030:10.1007/s12687-023-00642-2
1953:10.1038/s41598-019-54976-4
1819:10.1016/j.ajog.2021.06.038
1327:"OMIM Gene Map Statistics"
1160:was in the fossil species
1112:
982:
948:inflammatory bowel disease
899:Other such cases include:
849:
812:
793:
750:
708:
700:
699:(to scale at bottom left).
540:
485:
398:
31:
7222:
6685:
6672:McKusick–Kaufman syndrome
6571:Polycystic kidney disease
6504:
6341:
5141:Hyper-IgM syndrome type 3
4546:
4437:Atelosteogenesis, type II
3982:Rubinstein–Taybi syndrome
3808:SRY XY gonadal dysgenesis
3613:Bamforth–Lazarus syndrome
3225:Duane-radial ray syndrome
3174:SF1 XY gonadal dysgenesis
2513:10.1002/9781119676980.ch1
2482:10.1007/s11910-017-0739-9
2260:10.1016/j.coi.2009.04.001
1812:(5). Elsevier BV: B7–B8.
1192:List of genetic disorders
390:
365:
347:Glycogen storage diseases
270:
222:Myotonic dystrophy type 1
205:
200:
58:
49:
34:List of genetic disorders
6418:Infantile Refsum disease
5394:Diseases of ion channels
5216:Cenani–Lenz syndactylism
5058:Type I cytokine receptor
4696:Hirschsprung's disease 2
3850:Cleidocranial dysostosis
3067:Saethre–Chotzen syndrome
1863:10.1016/j.pt.2011.02.004
507:neurofibromatosis type 2
503:neurofibromatosis type 1
242:Hereditary spherocytosis
232:Neurofibromatosis type I
109:mutation), or it can be
85:. It can be caused by a
6766:Osteogenesis imperfecta
5996:Andersen–Tawil syndrome
4898:Thanatophoric dysplasia
4692:Waardenburg syndrome 4a
4121:Fanconi-Bickel syndrome
3827:Waardenburg syndrome 4c
3527:Coloboma of optic nerve
3375:Tooth and nail syndrome
3215:Pallister–Hall syndrome
2948:Whole genome sequencing
2881:Human genetic variation
2626:10.1126/science.1242551
2174:10.1038/npg.els.0001760
2066:learn.genetics.utah.edu
1451:Mayo Clinic Proceedings
1299:Genetics Home Reference
1169:amelogenesis imperfecta
953:intellectual disability
875:genotype-first approach
846:Multifactorial disorder
651:Ehlers–Danlos syndromes
643:osteogenesis imperfecta
578:spinal muscular atrophy
7081:Type XI collagenopathy
6917:Ehlers–Danlos syndrome
6868:Ehlers–Danlos syndrome
6848:Type II collagenopathy
6777:Ehlers–Danlos syndrome
6464:Adult Refsum disease-1
6423:Adult Refsum disease-2
6261:Bart–Pumphrey syndrome
5652:Paramyotonia congenita
5537:Malignant hyperthermia
5352:cell surface receptors
5204:Donnai–Barrow syndrome
4878:Jackson–Weiss syndrome
4866:Antley–Bixler syndrome
4850:KAL2 Kallmann syndrome
4804:Enzyme-linked receptor
4644:Leydig cell hypoplasia
4135:Fructose malabsorption
3770:Ulnar–mammary syndrome
3728:(4) β-Scaffold factors
3708:Van der Woude syndrome
3240:Townes–Brocks syndrome
3113:Intracellular receptor
2325:Weatherall DJ (2015).
2215:10.1098/rsif.2006.0154
1851:Trends in Parasitology
1493:Essays in Biochemistry
1228:. University of Utah.
1110:
998:
985:Chromosome abnormality
852:Multifactorial disease
836:mitochondrial diseases
729:incontinentia pigmenti
706:
689:homologous chromosomes
624:Hereditary defects in
527:Von Willebrand disease
431:recessive and dominant
401:Oligogenic inheritance
95:chromosome abnormality
7200:Urbach–Wiethe disease
7037:(types 2, 3, & 6)
6879:Sack–Barabas syndrome
6783:(types 1, 2, & 7)
6662:Senior–Løken syndrome
6594:Bardet–Biedl syndrome
6391:Peroxisomal disorders
6186:Mucolipidosis type IV
5731:Constitutively active
4664:XX gonadal dysgenesis
4592:Cell surface receptor
4551:solute carrier family
4513:African iron overload
4442:Diastrophic dysplasia
3944:Limb–mammary syndrome
3932:Rapp–Hodgkin syndrome
3904:Pitt–Hopkins syndrome
3480:Papillorenal syndrome
3455:Mowat–Wilson syndrome
3361:Nail–patella syndrome
3245:Acrocallosal syndrome
2917:Personalized medicine
1363:"About rare diseases"
1163:Paranthropus robustus
1104:
1081:and maintain patient
992:
815:Mitochondrial disease
780:skewed X-inactivation
772:male pattern baldness
701:Further information:
679:. It shows annotated
670:
405:Polygenic inheritance
327:Mucopolysaccharidoses
141:(due to their size).
103:embryonic development
18:Single gene disorders
6117:Osteopetrosis A2, B4
5926:Romano–Ward syndrome
5542:Central core disease
5010:Loeys–Dietz syndrome
4484:Von Gierke's disease
4365:Von Gierke's disease
3786:Campomelic dysplasia
3765:Li–Fraumeni syndrome
3250:Myotonic dystrophy 2
3220:Denys–Drash syndrome
3040:transcription factor
2989:1000 Genomes Project
2979:Human Genome Project
2927:Genetic epidemiology
1410:10.1002/ajmg.c.31874
1187:Genetic epidemiology
1142:chromosomal disorder
1075:Huntington's disease
1024:Huntington's disease
979:Chromosomal disorder
885:, and expressivity.
768:Lesch–Nyhan syndrome
741:Klinefelter syndrome
697:mitochondrial genome
574:Niemann–Pick disease
499:Huntington's disease
411:single-gene disorder
271:Autosomal recessive
262:Huntington's disease
147:chromosomal disorder
6473:Transporter-related
5671:Long QT syndrome 10
3580:Axenfeld syndrome 3
3394:Axenfeld syndrome 1
3333:SPD1 synpolydactyly
3098:DNA-binding domains
2941:Analysis techniques
2922:Predictive medicine
2896:Identity by descent
2871:Biological specimen
2855:Biological database
2618:2013Sci...341..853V
2331:Williams Hematology
1945:2019NatSR...918577S
1551:on 16 January 2020.
1505:10.1042/EBC20170053
1222:"Genetic Disorders"
1051:invasive procedures
909:autoimmune diseases
681:bands and sub-bands
566:sickle cell disease
537:Autosomal recessive
473:disorders known as
277:Sickle cell anaemia
206:Autosomal dominant
197:
180:, however, such as
115:autosomal recessive
7131:Bullous pemphigoid
6802:Hypochondrogenesis
6408:Zellweger syndrome
6266:Vohwinkel syndrome
6256:Ichthyosis hystrix
6145:Bartter syndrome 3
6089:Myotonia congenita
6001:Long QT syndrome 7
5982:Bartter syndrome 2
5936:Long QT syndrome 1
5893:Brugada syndrome 5
5879:Long QT syndrome 6
5865:Long QT syndrome 5
5709:Febrile seizure 3B
5690:Long QT syndrome 3
5685:Brugada syndrome 1
5623:Brugada syndrome 6
5609:Febrile seizure 3A
5512:Brugada syndrome 4
5460:Long QT syndrome 8
5455:Brugada syndrome 3
4980:TGF beta receptors
4200:Fuchs' dystrophy 4
3936:Hay–Wells syndrome
3760:Holt–Oram syndrome
3522:Gillespie syndrome
3441:Fuchs' dystrophy 3
3319:Currarino syndrome
2507:. pp. 1–101.
2438:CDC (2023-10-10).
2096:The New York Times
1933:Scientific Reports
1627:(7): e1045–e1053.
1111:
1071:muscular dystrophy
1043:Prenatal diagnosis
999:
913:multiple sclerosis
747:X-linked recessive
707:
523:tuberous sclerosis
482:Autosomal dominant
451:Sickle cell anemia
427:uniparental disomy
423:Genomic imprinting
415:monogenic disorder
195:
123:hereditary disease
119:autosomal dominant
7234:
7233:
7155:
7154:
7147:Knobloch syndrome
6923:(types 1 & 2)
6874:(types 3 & 4)
6823:Marshall syndrome
6818:Stickler syndrome
6697:
6696:
6554:Diseases of cilia
6520:
6519:
6353:
6352:
6044:
6043:
6006:Short QT syndrome
5931:Short QT syndrome
5907:Short QT syndrome
5818:Episodic ataxia 1
5794:Potassium channel
5788:
5787:
5752:Liddle's syndrome
5571:
5570:
5474:Ocular albinism 2
5431:Episodic ataxia 2
5360:
5359:
5044:
5043:
4894:Hypochondroplasia
4870:Pfeiffer syndrome
4846:Pfeiffer syndrome
4798:
4797:
4558:
4557:
4323:Gitelman syndrome
4079:Episodic ataxia 6
4019:
4018:
4015:
4014:
3885:
3884:
3858:
3857:
3723:
3722:
3300:Ohtahara syndrome
3274:
3273:
3144:Kennedy's disease
3091:
3090:
3062:Feingold syndrome
3048:(1) Basic domains
3036:Genetic disorders
3002:
3001:
2876:De-identification
2836:Personal genomics
2764:
2763:
2612:(6148): 853–855.
2522:978-1-119-67698-0
2395:978-1-4160-3080-5
2340:978-0-07-183301-1
2183:978-0-470-01617-6
1998:978-1-4292-2943-2
1736:(9557): 218–228.
1701:(21): 2802–2813.
1107:personal genomics
1037:, or contemplate
825:mitochondrial DNA
819:Mitochondrial DNA
711:X-linked dominant
663:X-linked dominant
655:dominant-negative
647:Marfan's syndrome
590:slight protection
570:Tay–Sachs disease
397:
396:
297:Tay–Sachs disease
139:mitochondrial DNA
75:
74:
39:Medical condition
16:(Redirected from
7254:
7227:fibrous proteins
7212:DFNA8/12, DFNB21
7116:
7113:
7105:
7102:
7098:Bethlem myopathy
7078:
7038:
7035:
7016:
7013:
7009:Fuchs' dystrophy
6960:
6957:
6949:
6946:
6942:Bethlem myopathy
6924:
6921:
6875:
6872:
6844:Kniest dysplasia
6839:
6838:(Strudwick type)
6836:
6813:
6810:
6784:
6781:
6773:
6770:
6753:
6748:Collagen disease
6724:
6717:
6710:
6701:
6690:ciliary proteins
6652:Alström syndrome
6636:Nephronophthisis
6620:Joubert syndrome
6547:
6540:
6533:
6524:
6387:Genetic disorder
6380:
6373:
6366:
6357:
6050:Chloride channel
5967:Inward-rectifier
5799:
5582:
5450:Timothy syndrome
5407:
5387:
5380:
5373:
5364:
4914:Donohue syndrome
4874:Crouzon syndrome
4834:Robinow syndrome
4816:
4612:
4585:
4578:
4571:
4562:
4456:Pendred syndrome
4228:Renal glycosuria
4053:Genetic disorder
4046:
4039:
4032:
4023:
3965:
3867:
3734:
3305:Lissencephaly X2
3283:
3190:Barakat syndrome
3102:
3052:
3029:
3022:
3015:
3006:
2932:Pharmacogenomics
2901:Genetic disorder
2829:
2822:
2815:
2806:
2722:
2710:
2709:
2707:
2706:
2700:
2661:
2652:
2646:
2645:
2601:
2595:
2594:
2575:10.1002/jgm.2698
2558:
2552:
2551:
2549:
2548:
2533:
2527:
2526:
2500:
2494:
2493:
2465:
2459:
2458:
2456:
2455:
2435:
2429:
2428:
2426:
2425:
2414:Cleveland Clinic
2406:
2400:
2399:
2381:
2375:
2374:
2362:
2356:
2355:
2353:
2352:
2322:
2316:
2315:
2305:
2278:
2272:
2271:
2243:
2237:
2236:
2226:
2194:
2188:
2187:
2161:
2155:
2154:
2118:
2112:
2111:
2109:
2107:
2087:
2081:
2080:
2078:
2077:
2058:
2052:
2051:
2041:
2009:
2003:
2002:
1984:
1975:
1974:
1964:
1924:
1918:
1917:
1881:
1875:
1874:
1846:
1840:
1839:
1821:
1797:
1791:
1790:
1788:
1787:
1768:
1762:
1761:
1725:
1719:
1718:
1690:
1684:
1683:
1681:
1680:
1661:
1655:
1654:
1644:
1612:
1606:
1605:
1603:
1602:
1583:
1577:
1576:
1574:
1567:
1559:
1553:
1552:
1536:
1530:
1529:
1516:
1484:
1475:
1474:
1463:10.4065/76.8.777
1446:
1433:
1432:
1422:
1412:
1388:
1382:
1381:
1379:
1378:
1359:
1346:
1345:
1343:
1342:
1323:
1314:
1313:
1311:
1310:
1301:. Archived from
1291:
1285:
1284:
1274:
1264:
1240:
1234:
1233:
1218:
1087:physical therapy
1085:. This includes
968:refractive error
733:Aicardi syndrome
638:
621:
582:Roberts syndrome
550:genetic carriers
469:Most congenital
393:
198:
178:cancer syndromes
170:acquired disease
79:genetic disorder
70:Medical genetics
54:
45:Genetic disorder
42:
21:
7262:
7261:
7257:
7256:
7255:
7253:
7252:
7251:
7237:
7236:
7235:
7230:
7218:
7178:
7151:
7135:
7119:
7114:
7111:
7103:
7100:
7086:
7076:
7057:
7041:
7036:
7033:
7019:
7014:
7011:
6997:
6963:
6958:
6955:
6947:
6944:
6927:
6922:
6919:
6902:
6898:Alport syndrome
6883:
6873:
6870:
6853:
6837:
6834:
6811:
6808:
6807:Achondrogenesis
6787:
6782:
6779:
6771:
6768:
6742:
6728:
6698:
6693:
6681:
6645:Other/ungrouped
6640:
6624:
6607:Meckel syndrome
6602:mitotic spindle
6556:
6551:
6521:
6516:
6500:
6484:
6468:
6432:
6394:
6384:
6354:
6349:
6337:
6310:
6192:
6151:
6084:Thomsen disease
6065:Cystic fibrosis
6040:
5961:
5784:
5725:
5704:Erythromelalgia
5567:
5518:
5402:Calcium channel
5396:
5391:
5361:
5356:
5260:Other/ungrouped
5255:
5236:Osteopetrosis 1
5182:
5097:
5040:
5015:
4952:
4902:Muenke syndrome
4808:
4806:
4794:
4771:
4748:
4725:
4603:
4595:
4589:
4559:
4554:
4542:
4519:
4424:Achondrogenesis
4400:
4309:Crohn's disease
4290:
4256:Hartnup disease
4107:De Vivo disease
4060:
4050:
4020:
4011:
3988:
3954:
3881:
3877:Kabuki syndrome
3854:
3838:
3774:
3748:
3729:
3719:
3689:
3561:
3461:
3270:
3254:
3199:
3178:
3097:
3096:(2) Zinc finger
3087:
3071:
3043:
3042:or coregulators
3033:
3003:
2998:
2967:
2963:Genetic testing
2936:
2905:
2886:Genetic linkage
2859:
2843:Data collection
2838:
2833:
2765:
2760:
2759:
2733:
2719:
2714:
2713:
2704:
2702:
2698:
2659:
2654:
2653:
2649:
2603:
2602:
2598:
2560:
2559:
2555:
2546:
2544:
2535:
2534:
2530:
2523:
2502:
2501:
2497:
2467:
2466:
2462:
2453:
2451:
2437:
2436:
2432:
2423:
2421:
2408:
2407:
2403:
2396:
2383:
2382:
2378:
2364:
2363:
2359:
2350:
2348:
2341:
2324:
2323:
2319:
2280:
2279:
2275:
2245:
2244:
2240:
2196:
2195:
2191:
2184:
2163:
2162:
2158:
2123:Nature Genetics
2120:
2119:
2115:
2105:
2103:
2089:
2088:
2084:
2075:
2073:
2060:
2059:
2055:
2011:
2010:
2006:
1999:
1986:
1985:
1978:
1926:
1925:
1921:
1883:
1882:
1878:
1848:
1847:
1843:
1799:
1798:
1794:
1785:
1783:
1770:
1769:
1765:
1727:
1726:
1722:
1692:
1691:
1687:
1678:
1676:
1663:
1662:
1658:
1614:
1613:
1609:
1600:
1598:
1585:
1584:
1580:
1572:
1565:
1561:
1560:
1556:
1538:
1537:
1533:
1486:
1485:
1478:
1448:
1447:
1436:
1390:
1389:
1385:
1376:
1374:
1361:
1360:
1349:
1340:
1338:
1325:
1324:
1317:
1308:
1306:
1293:
1292:
1288:
1242:
1241:
1237:
1220:
1219:
1215:
1210:
1202:Mendelian error
1177:
1154:
1138:
1126:quality of life
1117:
1109:to gene therapy
1099:
1091:pain management
1079:quality of life
1063:
1012:
993:Chromosomes in
987:
981:
854:
848:
821:
813:Main articles:
811:
798:
792:
784:Turner syndrome
782:or monosomy X (
776:color blindness
755:
749:
713:
705:
683:as used in the
665:
658:
639:
630:
622:
606:phenylketonuria
562:cystic fibrosis
545:
539:
511:Marfan syndrome
490:
484:
407:
391:
307:Phenylketonuria
287:Cystic fibrosis
252:Marfan syndrome
193:
40:
37:
28:
23:
22:
15:
12:
11:
5:
7260:
7258:
7250:
7249:
7239:
7238:
7232:
7231:
7223:
7220:
7219:
7217:
7216:
7215:
7214:
7202:
7197:
7195:Raine syndrome
7192:
7186:
7184:
7180:
7179:
7177:
7176:
7171:
7165:
7163:
7157:
7156:
7153:
7152:
7150:
7149:
7143:
7141:
7137:
7136:
7134:
7133:
7127:
7125:
7121:
7120:
7118:
7117:
7106:
7094:
7092:
7088:
7087:
7085:
7084:
7071:
7065:
7063:
7059:
7058:
7056:
7055:
7049:
7047:
7043:
7042:
7040:
7039:
7027:
7025:
7021:
7020:
7018:
7017:
7005:
7003:
6999:
6998:
6996:
6995:
6990:
6985:
6980:
6974:
6972:
6965:
6964:
6962:
6961:
6950:
6938:
6936:
6929:
6928:
6926:
6925:
6913:
6911:
6904:
6903:
6901:
6900:
6894:
6892:
6885:
6884:
6882:
6881:
6876:
6864:
6862:
6855:
6854:
6852:
6851:
6841:
6830:
6825:
6820:
6815:
6804:
6798:
6796:
6789:
6788:
6786:
6785:
6774:
6762:
6760:
6750:
6744:
6743:
6740:scleroproteins
6729:
6727:
6726:
6719:
6712:
6704:
6695:
6694:
6686:
6683:
6682:
6680:
6679:
6674:
6669:
6664:
6659:
6654:
6648:
6646:
6642:
6641:
6639:
6638:
6632:
6630:
6626:
6625:
6623:
6622:
6610:
6609:
6597:
6596:
6584:
6583:
6574:
6573:
6564:
6562:
6558:
6557:
6552:
6550:
6549:
6542:
6535:
6527:
6518:
6517:
6505:
6502:
6501:
6499:
6498:
6492:
6490:
6486:
6485:
6483:
6482:
6476:
6474:
6470:
6469:
6467:
6466:
6461:
6456:
6451:
6446:
6440:
6438:
6437:Enzyme-related
6434:
6433:
6431:
6430:
6425:
6420:
6415:
6410:
6404:
6402:
6396:
6395:
6385:
6383:
6382:
6375:
6368:
6360:
6351:
6350:
6342:
6339:
6338:
6336:
6335:
6334:
6333:
6320:
6318:
6312:
6311:
6309:
6308:
6307:
6306:
6294:
6293:
6292:
6287:
6271:
6270:
6269:
6263:
6258:
6253:
6241:
6240:
6239:
6227:
6226:
6225:
6220:
6215:
6202:
6200:
6194:
6193:
6191:
6190:
6189:
6188:
6176:
6175:
6174:
6161:
6159:
6153:
6152:
6150:
6149:
6148:
6147:
6135:
6134:
6133:
6121:
6120:
6119:
6107:
6106:
6105:
6103:Dent's disease
6093:
6092:
6091:
6086:
6074:
6073:
6072:
6067:
6054:
6052:
6046:
6045:
6042:
6041:
6039:
6038:
6037:
6036:
6024:
6023:
6022:
6010:
6009:
6008:
6003:
5998:
5986:
5985:
5984:
5971:
5969:
5963:
5962:
5960:
5959:
5958:
5957:
5945:
5944:
5943:
5938:
5933:
5928:
5923:
5911:
5910:
5909:
5897:
5896:
5895:
5883:
5882:
5881:
5869:
5868:
5867:
5862:
5850:
5849:
5848:
5836:
5835:
5834:
5822:
5821:
5820:
5807:
5805:
5796:
5790:
5789:
5786:
5785:
5783:
5782:
5781:
5780:
5756:
5755:
5754:
5735:
5733:
5727:
5726:
5724:
5723:
5722:
5721:
5716:
5711:
5706:
5694:
5693:
5692:
5687:
5675:
5674:
5673:
5661:
5660:
5659:
5654:
5649:
5644:
5632:
5631:
5630:
5625:
5613:
5612:
5611:
5606:
5601:
5588:
5586:
5579:
5577:Sodium channel
5573:
5572:
5569:
5568:
5566:
5565:
5564:
5563:
5558:
5546:
5545:
5544:
5539:
5526:
5524:
5520:
5519:
5517:
5516:
5515:
5514:
5502:
5501:
5500:
5495:
5483:
5482:
5481:
5476:
5464:
5463:
5462:
5457:
5452:
5440:
5439:
5438:
5433:
5428:
5415:
5413:
5404:
5398:
5397:
5392:
5390:
5389:
5382:
5375:
5367:
5358:
5357:
5355:
5354:
5349:
5345:
5344:
5332:
5320:
5295:
5294:
5289:
5284:
5274:
5273:
5263:
5261:
5257:
5256:
5254:
5253:
5240:
5239:
5228:Worth syndrome
5219:
5207:
5190:
5188:
5187:Lipid receptor
5184:
5183:
5181:
5180:
5168:
5156:
5144:
5132:
5120:
5107:
5105:
5099:
5098:
5096:
5095:
5084:
5083:
5071:
5068:Laron syndrome
5054:
5052:
5046:
5045:
5042:
5041:
5039:
5038:
5025:
5023:
5017:
5016:
5014:
5013:
4999:
4976:
4975:
4962:
4960:
4954:
4953:
4951:
4950:
4943:KIT Piebaldism
4934:
4922:
4916:
4905:
4890:Achondroplasia
4881:
4862:Apert syndrome
4853:
4837:
4824:
4822:
4813:
4800:
4799:
4796:
4795:
4793:
4792:
4779:
4777:
4773:
4772:
4770:
4769:
4756:
4754:
4750:
4749:
4747:
4746:
4733:
4731:
4727:
4726:
4724:
4723:
4711:
4699:
4679:
4667:
4651:
4631:
4618:
4616:
4609:
4597:
4596:
4590:
4588:
4587:
4580:
4573:
4565:
4556:
4555:
4547:
4544:
4543:
4541:
4540:
4527:
4525:
4521:
4520:
4518:
4517:
4516:
4515:
4503:
4502:
4501:
4489:
4488:
4487:
4474:
4473:
4472:
4460:
4459:
4458:
4446:
4445:
4444:
4439:
4434:
4429:
4421:
4408:
4406:
4402:
4401:
4399:
4398:
4397:
4396:
4384:
4383:
4382:
4370:
4369:
4368:
4355:
4354:
4353:
4341:
4340:
4339:
4327:
4326:
4325:
4313:
4312:
4311:
4298:
4296:
4292:
4291:
4289:
4288:
4287:
4286:
4274:
4273:
4272:
4260:
4259:
4258:
4246:
4245:
4244:
4232:
4231:
4230:
4218:
4217:
4216:
4204:
4203:
4202:
4197:
4185:
4184:
4183:
4167:
4166:
4165:
4153:
4152:
4151:
4139:
4138:
4137:
4125:
4124:
4123:
4111:
4110:
4109:
4097:
4096:
4095:
4083:
4082:
4081:
4068:
4066:
4062:
4061:
4057:Solute carrier
4051:
4049:
4048:
4041:
4034:
4026:
4017:
4016:
4013:
4012:
4010:
4009:
3996:
3994:
3990:
3989:
3987:
3986:
3985:
3984:
3971:
3969:
3962:
3956:
3955:
3953:
3952:
3951:
3950:
3922:
3921:
3920:
3908:
3907:
3906:
3893:
3891:
3887:
3886:
3883:
3882:
3880:
3879:
3873:
3871:
3864:
3860:
3859:
3856:
3855:
3853:
3852:
3846:
3844:
3840:
3839:
3837:
3836:
3835:
3834:
3829:
3817:
3816:
3815:
3810:
3798:
3793:
3788:
3782:
3780:
3776:
3775:
3773:
3772:
3767:
3762:
3756:
3754:
3750:
3749:
3747:
3746:
3740:
3738:
3731:
3725:
3724:
3721:
3720:
3718:
3717:
3716:
3715:
3710:
3697:
3695:
3691:
3690:
3688:
3687:
3686:
3685:
3673:
3672:
3671:
3659:
3658:
3657:
3645:
3644:
3643:
3631:
3630:
3629:
3617:
3616:
3615:
3603:
3602:
3601:
3589:
3588:
3587:
3582:
3569:
3567:
3563:
3562:
3560:
3559:
3558:
3557:
3545:
3544:
3543:
3531:
3530:
3529:
3524:
3512:
3511:
3510:
3498:
3497:
3496:
3484:
3483:
3482:
3469:
3467:
3463:
3462:
3460:
3459:
3458:
3457:
3445:
3444:
3443:
3438:
3426:
3425:
3424:
3412:
3411:
3410:
3398:
3397:
3396:
3384:
3383:
3382:
3377:
3365:
3364:
3363:
3351:
3350:
3349:
3337:
3336:
3335:
3323:
3322:
3321:
3309:
3308:
3307:
3302:
3289:
3287:
3280:
3276:
3275:
3272:
3271:
3269:
3268:
3262:
3260:
3256:
3255:
3253:
3252:
3247:
3242:
3237:
3232:
3227:
3222:
3217:
3207:
3205:
3201:
3200:
3198:
3197:
3192:
3186:
3184:
3180:
3179:
3177:
3176:
3171:
3166:
3161:
3156:
3151:
3146:
3141:
3140:
3139:
3134:
3129:
3119:
3108:
3106:
3099:
3093:
3092:
3089:
3088:
3086:
3085:
3083:Tietz syndrome
3079:
3077:
3073:
3072:
3070:
3069:
3064:
3058:
3056:
3049:
3045:
3044:
3034:
3032:
3031:
3024:
3017:
3009:
3000:
2999:
2997:
2996:
2991:
2986:
2981:
2975:
2973:
2972:Major projects
2969:
2968:
2966:
2965:
2960:
2955:
2950:
2944:
2942:
2938:
2937:
2935:
2934:
2929:
2924:
2919:
2913:
2911:
2907:
2906:
2904:
2903:
2898:
2893:
2888:
2883:
2878:
2873:
2867:
2865:
2864:Field concepts
2861:
2860:
2858:
2857:
2852:
2846:
2844:
2840:
2839:
2834:
2832:
2831:
2824:
2817:
2809:
2803:
2802:
2797:
2792:
2787:
2782:
2776:
2771:
2762:
2761:
2758:
2757:
2746:
2734:
2729:
2728:
2726:
2725:Classification
2718:
2717:External links
2715:
2712:
2711:
2647:
2596:
2553:
2528:
2521:
2495:
2460:
2430:
2401:
2394:
2376:
2357:
2339:
2317:
2296:(5): 773–775.
2273:
2254:(5): 499–505.
2238:
2189:
2182:
2156:
2135:10.1038/ng1733
2129:(3): 324–330.
2113:
2082:
2053:
2024:(3): 241–262.
2004:
1997:
1976:
1919:
1892:(2): 179–183.
1876:
1857:(7): 315–320.
1841:
1792:
1763:
1720:
1685:
1656:
1607:
1578:
1554:
1531:
1499:(5): 643–723.
1476:
1457:(8): 777–783.
1434:
1383:
1347:
1315:
1286:
1235:
1226:Learn.Genetics
1212:
1211:
1209:
1206:
1205:
1204:
1199:
1194:
1189:
1184:
1176:
1173:
1153:
1150:
1137:
1134:
1098:
1095:
1062:
1059:
1031:family history
1011:
1008:
980:
977:
976:
975:
970:
965:
960:
955:
950:
945:
940:
935:
930:
925:
920:
915:
906:
894:blood pressure
850:Main article:
847:
844:
810:
807:
794:Main article:
791:
788:
774:and red–green
751:Main article:
748:
745:
709:Main article:
693:sex chromosome
687:. It shows 22
664:
661:
660:
659:
640:
633:
631:
623:
616:
541:Main article:
538:
535:
486:Main article:
483:
480:
447:achondroplasia
395:
394:
388:
387:
384:
378:
377:
374:
368:
367:
363:
362:
359:
353:
352:
349:
343:
342:
339:
333:
332:
329:
323:
322:
319:
313:
312:
309:
303:
302:
299:
293:
292:
289:
283:
282:
279:
273:
272:
268:
267:
264:
258:
257:
254:
248:
247:
244:
238:
237:
234:
228:
227:
224:
218:
217:
214:
208:
207:
203:
202:
192:
189:
73:
72:
67:
61:
60:
56:
55:
47:
46:
38:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
7259:
7248:
7245:
7244:
7242:
7229:
7228:
7221:
7213:
7210:
7209:
7208:
7207:
7203:
7201:
7198:
7196:
7193:
7191:
7188:
7187:
7185:
7181:
7175:
7172:
7170:
7167:
7166:
7164:
7162:
7158:
7148:
7145:
7144:
7142:
7138:
7132:
7129:
7128:
7126:
7122:
7110:
7107:
7099:
7096:
7095:
7093:
7089:
7082:
7075:
7072:
7070:
7067:
7066:
7064:
7060:
7054:
7051:
7050:
7048:
7044:
7032:
7029:
7028:
7026:
7022:
7010:
7007:
7006:
7004:
7000:
6994:
6991:
6989:
6988:Bart syndrome
6986:
6984:
6981:
6979:
6976:
6975:
6973:
6970:
6966:
6954:
6951:
6943:
6940:
6939:
6937:
6934:
6930:
6918:
6915:
6914:
6912:
6909:
6905:
6899:
6896:
6895:
6893:
6890:
6886:
6880:
6877:
6869:
6866:
6865:
6863:
6860:
6856:
6849:
6845:
6842:
6840:
6831:
6829:
6826:
6824:
6821:
6819:
6816:
6814:
6805:
6803:
6800:
6799:
6797:
6794:
6790:
6778:
6775:
6767:
6764:
6763:
6761:
6758:
6754:
6751:
6749:
6745:
6741:
6737:
6733:
6725:
6720:
6718:
6713:
6711:
6706:
6705:
6702:
6692:
6691:
6684:
6678:
6675:
6673:
6670:
6668:
6665:
6663:
6660:
6658:
6655:
6653:
6650:
6649:
6647:
6643:
6637:
6634:
6633:
6631:
6627:
6621:
6617:
6616:
6612:
6611:
6608:
6605:
6603:
6599:
6598:
6595:
6591:
6590:
6586:
6585:
6582:
6579:
6576:
6575:
6572:
6569:
6566:
6565:
6563:
6559:
6555:
6548:
6543:
6541:
6536:
6534:
6529:
6528:
6525:
6515:
6514:
6513:intermediates
6510:
6503:
6497:
6496:Danon disease
6494:
6493:
6491:
6487:
6481:
6478:
6477:
6475:
6471:
6465:
6462:
6460:
6457:
6455:
6452:
6450:
6447:
6445:
6442:
6441:
6439:
6435:
6429:
6426:
6424:
6421:
6419:
6416:
6414:
6411:
6409:
6406:
6405:
6403:
6401:
6397:
6392:
6389:, organelle:
6388:
6381:
6376:
6374:
6369:
6367:
6362:
6361:
6358:
6348:
6347:
6340:
6332:
6329:
6328:
6327:
6326:
6322:
6321:
6319:
6317:
6313:
6305:
6302:
6301:
6300:
6299:
6295:
6291:
6288:
6286:
6283:
6282:
6281:
6280:
6276:
6272:
6267:
6264:
6262:
6259:
6257:
6254:
6252:
6249:
6248:
6247:
6246:
6242:
6238:
6235:
6234:
6233:
6232:
6228:
6224:
6221:
6219:
6216:
6214:
6211:
6210:
6209:
6208:
6204:
6203:
6201:
6199:
6195:
6187:
6184:
6183:
6182:
6181:
6177:
6173:
6170:
6169:
6168:
6167:
6163:
6162:
6160:
6158:
6154:
6146:
6143:
6142:
6141:
6140:
6136:
6132:
6129:
6128:
6127:
6126:
6122:
6118:
6115:
6114:
6113:
6112:
6108:
6104:
6101:
6100:
6099:
6098:
6094:
6090:
6087:
6085:
6082:
6081:
6080:
6079:
6075:
6071:
6068:
6066:
6063:
6062:
6061:
6060:
6056:
6055:
6053:
6051:
6047:
6035:
6032:
6031:
6030:
6029:
6025:
6021:
6018:
6017:
6016:
6015:
6011:
6007:
6004:
6002:
5999:
5997:
5994:
5993:
5992:
5991:
5987:
5983:
5980:
5979:
5978:
5977:
5973:
5972:
5970:
5968:
5964:
5956:
5953:
5952:
5951:
5950:
5946:
5942:
5939:
5937:
5934:
5932:
5929:
5927:
5924:
5922:
5919:
5918:
5917:
5916:
5912:
5908:
5905:
5904:
5903:
5902:
5898:
5894:
5891:
5890:
5889:
5888:
5884:
5880:
5877:
5876:
5875:
5874:
5870:
5866:
5863:
5861:
5858:
5857:
5856:
5855:
5851:
5847:
5844:
5843:
5842:
5841:
5837:
5833:
5830:
5829:
5828:
5827:
5823:
5819:
5816:
5815:
5814:
5813:
5809:
5808:
5806:
5804:
5803:Voltage-gated
5800:
5797:
5795:
5791:
5779:
5776:
5775:
5774:
5773:
5768:
5767:
5762:
5761:
5757:
5753:
5750:
5749:
5748:
5747:
5742:
5741:
5737:
5736:
5734:
5732:
5728:
5720:
5717:
5715:
5712:
5710:
5707:
5705:
5702:
5701:
5700:
5699:
5695:
5691:
5688:
5686:
5683:
5682:
5681:
5680:
5676:
5672:
5669:
5668:
5667:
5666:
5662:
5658:
5655:
5653:
5650:
5648:
5645:
5643:
5640:
5639:
5638:
5637:
5633:
5629:
5626:
5624:
5621:
5620:
5619:
5618:
5614:
5610:
5607:
5605:
5602:
5600:
5597:
5596:
5595:
5594:
5590:
5589:
5587:
5585:Voltage-gated
5583:
5580:
5578:
5574:
5562:
5559:
5557:
5554:
5553:
5552:
5551:
5547:
5543:
5540:
5538:
5535:
5534:
5533:
5532:
5528:
5527:
5525:
5521:
5513:
5510:
5509:
5508:
5507:
5503:
5499:
5496:
5494:
5491:
5490:
5489:
5488:
5484:
5480:
5477:
5475:
5472:
5471:
5470:
5469:
5465:
5461:
5458:
5456:
5453:
5451:
5448:
5447:
5446:
5445:
5441:
5437:
5434:
5432:
5429:
5427:
5424:
5423:
5422:
5421:
5417:
5416:
5414:
5412:
5411:Voltage-gated
5408:
5405:
5403:
5399:
5395:
5388:
5383:
5381:
5376:
5374:
5369:
5368:
5365:
5353:
5350:
5347:
5346:
5342:
5338:
5337:
5333:
5330:
5326:
5325:
5321:
5318:
5314:
5313:
5309:
5308:
5307:
5305:
5301:
5300:
5293:
5290:
5288:
5285:
5283:
5279:
5276:
5275:
5272:
5268:
5265:
5264:
5262:
5258:
5251:
5247:
5246:
5242:
5241:
5237:
5233:
5229:
5225:
5224:
5220:
5217:
5213:
5212:
5208:
5205:
5201:
5200:
5195:
5192:
5191:
5189:
5185:
5178:
5174:
5173:
5169:
5166:
5162:
5161:
5157:
5154:
5150:
5149:
5145:
5142:
5138:
5137:
5133:
5130:
5126:
5125:
5121:
5118:
5114:
5113:
5109:
5108:
5106:
5104:
5100:
5093:
5089:
5086:
5085:
5081:
5077:
5076:
5072:
5069:
5065:
5064:
5059:
5056:
5055:
5053:
5051:
5047:
5036:
5032:
5031:
5027:
5026:
5024:
5022:
5018:
5011:
5007:
5003:
5000:
4997:
4993:
4989:
4985:
4981:
4978:
4977:
4973:
4969:
4968:
4964:
4963:
4961:
4959:
4955:
4948:
4944:
4940:
4939:
4935:
4932:
4928:
4927:
4923:
4920:
4917:
4915:
4911:
4910:
4906:
4903:
4899:
4895:
4891:
4887:
4886:
4882:
4879:
4875:
4871:
4867:
4863:
4859:
4858:
4854:
4851:
4847:
4843:
4842:
4838:
4835:
4831:
4830:
4826:
4825:
4823:
4821:
4817:
4814:
4811:
4810:growth factor
4805:
4801:
4790:
4786:
4785:
4781:
4780:
4778:
4774:
4767:
4763:
4762:
4758:
4757:
4755:
4751:
4744:
4740:
4739:
4735:
4734:
4732:
4728:
4721:
4717:
4716:
4712:
4709:
4705:
4704:
4700:
4697:
4693:
4689:
4688:ABCD syndrome
4685:
4684:
4680:
4677:
4673:
4672:
4668:
4665:
4661:
4657:
4656:
4652:
4649:
4645:
4641:
4637:
4636:
4632:
4629:
4625:
4624:
4620:
4619:
4617:
4613:
4610:
4607:
4602:
4598:
4593:
4586:
4581:
4579:
4574:
4572:
4567:
4566:
4563:
4553:
4552:
4545:
4538:
4534:
4533:
4529:
4528:
4526:
4522:
4514:
4511:
4510:
4509:
4508:
4504:
4500:
4497:
4496:
4495:
4494:
4490:
4485:
4482:
4481:
4480:
4479:
4475:
4471:
4468:
4467:
4466:
4465:
4461:
4457:
4454:
4453:
4452:
4451:
4447:
4443:
4440:
4438:
4435:
4433:
4430:
4428:
4425:
4422:
4420:
4417:
4416:
4415:
4414:
4410:
4409:
4407:
4403:
4395:
4392:
4391:
4390:
4389:
4385:
4381:
4380:Salla disease
4378:
4377:
4376:
4375:
4371:
4366:
4363:
4362:
4361:
4360:
4356:
4352:
4349:
4348:
4347:
4346:
4342:
4338:
4335:
4334:
4333:
4332:
4328:
4324:
4321:
4320:
4319:
4318:
4314:
4310:
4307:
4306:
4305:
4304:
4300:
4299:
4297:
4293:
4285:
4282:
4281:
4280:
4279:
4275:
4271:
4268:
4267:
4266:
4265:
4261:
4257:
4254:
4253:
4252:
4251:
4247:
4243:
4240:
4239:
4238:
4237:
4233:
4229:
4226:
4225:
4224:
4223:
4219:
4215:
4212:
4211:
4210:
4209:
4205:
4201:
4198:
4196:
4193:
4192:
4191:
4190:
4186:
4182:
4178:
4175:
4174:
4173:
4172:
4168:
4164:
4161:
4160:
4159:
4158:
4154:
4150:
4147:
4146:
4145:
4144:
4140:
4136:
4133:
4132:
4131:
4130:
4126:
4122:
4119:
4118:
4117:
4116:
4112:
4108:
4105:
4104:
4103:
4102:
4098:
4094:
4091:
4090:
4089:
4088:
4084:
4080:
4077:
4076:
4075:
4074:
4070:
4069:
4067:
4063:
4058:
4054:
4047:
4042:
4040:
4035:
4033:
4028:
4027:
4024:
4007:
4003:
4002:
3998:
3997:
3995:
3991:
3983:
3980:
3979:
3978:
3977:
3973:
3972:
3970:
3966:
3963:
3961:
3957:
3949:
3945:
3941:
3937:
3933:
3930:
3929:
3928:
3927:
3923:
3919:
3916:
3915:
3914:
3913:
3909:
3905:
3902:
3901:
3900:
3899:
3895:
3894:
3892:
3888:
3878:
3875:
3874:
3872:
3868:
3865:
3861:
3851:
3848:
3847:
3845:
3841:
3833:
3830:
3828:
3825:
3824:
3823:
3822:
3818:
3814:
3811:
3809:
3806:
3805:
3804:
3803:
3799:
3797:
3794:
3792:
3789:
3787:
3784:
3783:
3781:
3777:
3771:
3768:
3766:
3763:
3761:
3758:
3757:
3755:
3751:
3745:
3742:
3741:
3739:
3735:
3732:
3726:
3714:
3711:
3709:
3706:
3705:
3704:
3703:
3699:
3698:
3696:
3692:
3684:
3681:
3680:
3679:
3678:
3674:
3670:
3667:
3666:
3665:
3664:
3660:
3656:
3653:
3652:
3651:
3650:
3646:
3642:
3639:
3638:
3637:
3636:
3632:
3628:
3625:
3624:
3623:
3622:
3618:
3614:
3611:
3610:
3609:
3608:
3604:
3600:
3597:
3596:
3595:
3594:
3590:
3586:
3583:
3581:
3578:
3577:
3576:
3575:
3571:
3570:
3568:
3564:
3556:
3553:
3552:
3551:
3550:
3546:
3542:
3539:
3538:
3537:
3536:
3532:
3528:
3525:
3523:
3520:
3519:
3518:
3517:
3513:
3509:
3506:
3505:
3504:
3503:
3499:
3495:
3492:
3491:
3490:
3489:
3485:
3481:
3478:
3477:
3476:
3475:
3471:
3470:
3468:
3464:
3456:
3453:
3452:
3451:
3450:
3446:
3442:
3439:
3437:
3434:
3433:
3432:
3431:
3427:
3423:
3420:
3419:
3418:
3417:
3413:
3409:
3406:
3405:
3404:
3403:
3399:
3395:
3392:
3391:
3390:
3389:
3385:
3381:
3378:
3376:
3373:
3372:
3371:
3370:
3366:
3362:
3359:
3358:
3357:
3356:
3352:
3348:
3345:
3344:
3343:
3342:
3338:
3334:
3331:
3330:
3329:
3328:
3324:
3320:
3317:
3316:
3315:
3314:
3310:
3306:
3303:
3301:
3298:
3297:
3296:
3295:
3291:
3290:
3288:
3284:
3281:
3277:
3267:
3264:
3263:
3261:
3257:
3251:
3248:
3246:
3243:
3241:
3238:
3236:
3233:
3231:
3228:
3226:
3223:
3221:
3218:
3216:
3212:
3209:
3208:
3206:
3202:
3196:
3193:
3191:
3188:
3187:
3185:
3181:
3175:
3172:
3170:
3167:
3165:
3162:
3160:
3157:
3155:
3152:
3150:
3147:
3145:
3142:
3138:
3135:
3133:
3130:
3128:
3125:
3124:
3123:
3120:
3118:
3114:
3110:
3109:
3107:
3103:
3100:
3094:
3084:
3081:
3080:
3078:
3074:
3068:
3065:
3063:
3060:
3059:
3057:
3053:
3050:
3046:
3041:
3037:
3030:
3025:
3023:
3018:
3016:
3011:
3010:
3007:
2995:
2992:
2990:
2987:
2985:
2982:
2980:
2977:
2976:
2974:
2970:
2964:
2961:
2959:
2956:
2954:
2951:
2949:
2946:
2945:
2943:
2939:
2933:
2930:
2928:
2925:
2923:
2920:
2918:
2915:
2914:
2912:
2908:
2902:
2899:
2897:
2894:
2892:
2889:
2887:
2884:
2882:
2879:
2877:
2874:
2872:
2869:
2868:
2866:
2862:
2856:
2853:
2851:
2848:
2847:
2845:
2841:
2837:
2830:
2825:
2823:
2818:
2816:
2811:
2810:
2807:
2801:
2798:
2796:
2793:
2791:
2788:
2786:
2783:
2780:
2777:
2775:
2772:
2770:
2767:
2766:
2756:
2752:
2751:
2747:
2745:
2741:
2740:
2736:
2735:
2732:
2727:
2723:
2716:
2697:
2693:
2689:
2685:
2681:
2677:
2673:
2669:
2665:
2658:
2651:
2648:
2643:
2639:
2635:
2631:
2627:
2623:
2619:
2615:
2611:
2607:
2600:
2597:
2592:
2588:
2584:
2580:
2576:
2572:
2568:
2564:
2557:
2554:
2543:on 2008-05-16
2542:
2538:
2532:
2529:
2524:
2518:
2514:
2510:
2506:
2499:
2496:
2491:
2487:
2483:
2479:
2475:
2471:
2464:
2461:
2449:
2445:
2441:
2434:
2431:
2419:
2415:
2411:
2405:
2402:
2397:
2391:
2387:
2380:
2377:
2372:
2368:
2361:
2358:
2346:
2342:
2336:
2332:
2328:
2321:
2318:
2313:
2309:
2304:
2299:
2295:
2291:
2287:
2283:
2277:
2274:
2269:
2265:
2261:
2257:
2253:
2249:
2242:
2239:
2234:
2230:
2225:
2220:
2216:
2212:
2209:(12): 91–98.
2208:
2204:
2200:
2193:
2190:
2185:
2179:
2175:
2171:
2167:
2160:
2157:
2152:
2148:
2144:
2140:
2136:
2132:
2128:
2124:
2117:
2114:
2101:
2097:
2093:
2086:
2083:
2071:
2067:
2063:
2057:
2054:
2049:
2045:
2040:
2035:
2031:
2027:
2023:
2019:
2015:
2008:
2005:
2000:
1994:
1990:
1983:
1981:
1977:
1972:
1968:
1963:
1958:
1954:
1950:
1946:
1942:
1938:
1934:
1930:
1923:
1920:
1915:
1911:
1907:
1903:
1899:
1895:
1891:
1887:
1880:
1877:
1872:
1868:
1864:
1860:
1856:
1852:
1845:
1842:
1837:
1833:
1829:
1825:
1820:
1815:
1811:
1807:
1803:
1796:
1793:
1781:
1777:
1773:
1767:
1764:
1759:
1755:
1751:
1747:
1743:
1739:
1735:
1731:
1724:
1721:
1716:
1712:
1708:
1704:
1700:
1696:
1689:
1686:
1674:
1670:
1666:
1660:
1657:
1652:
1648:
1643:
1638:
1634:
1630:
1626:
1622:
1618:
1611:
1608:
1596:
1592:
1588:
1582:
1579:
1571:
1564:
1558:
1555:
1550:
1546:
1542:
1535:
1532:
1528:
1524:
1520:
1515:
1510:
1506:
1502:
1498:
1494:
1490:
1483:
1481:
1477:
1472:
1468:
1464:
1460:
1456:
1452:
1445:
1443:
1441:
1439:
1435:
1430:
1426:
1421:
1416:
1411:
1406:
1402:
1398:
1394:
1387:
1384:
1372:
1368:
1364:
1358:
1356:
1354:
1352:
1348:
1336:
1332:
1328:
1322:
1320:
1316:
1305:on 2020-09-27
1304:
1300:
1296:
1290:
1287:
1282:
1278:
1273:
1268:
1263:
1258:
1254:
1250:
1246:
1239:
1236:
1231:
1227:
1223:
1217:
1214:
1207:
1203:
1200:
1198:
1195:
1193:
1190:
1188:
1185:
1182:
1179:
1178:
1174:
1172:
1170:
1166:
1164:
1159:
1151:
1149:
1147:
1143:
1135:
1133:
1129:
1127:
1122:
1116:
1108:
1103:
1096:
1094:
1092:
1088:
1084:
1080:
1076:
1072:
1068:
1067:Down syndrome
1060:
1058:
1056:
1055:amniocentesis
1052:
1048:
1044:
1040:
1036:
1032:
1027:
1025:
1021:
1017:
1009:
1007:
1005:
1004:Down syndrome
996:
995:Down syndrome
991:
986:
978:
974:
971:
969:
966:
964:
961:
959:
958:mood disorder
956:
954:
951:
949:
946:
944:
941:
939:
938:heart disease
936:
934:
931:
929:
926:
924:
921:
919:
916:
914:
910:
907:
905:
902:
901:
900:
897:
895:
891:
886:
884:
880:
879:heterogeneity
876:
872:
868:
864:
860:
859:heart disease
853:
845:
843:
841:
837:
832:
830:
826:
820:
816:
809:Mitochondrial
808:
806:
802:
797:
789:
787:
785:
781:
777:
773:
769:
765:
761:
754:
746:
744:
742:
738:
734:
730:
726:
725:Rett syndrome
722:
718:
712:
704:
698:
694:
690:
686:
682:
678:
674:
669:
662:
656:
652:
648:
644:
637:
632:
627:
620:
615:
613:
611:
607:
603:
599:
595:
591:
587:
583:
579:
575:
571:
567:
563:
559:
555:
551:
544:
536:
534:
532:
528:
524:
520:
516:
512:
508:
504:
500:
496:
489:
481:
479:
476:
472:
467:
465:
460:
456:
452:
448:
444:
440:
436:
432:
428:
424:
420:
416:
412:
406:
402:
389:
385:
383:
380:
379:
375:
373:
370:
369:
364:
360:
358:
355:
354:
350:
348:
345:
344:
340:
338:
335:
334:
330:
328:
325:
324:
320:
318:
315:
314:
310:
308:
305:
304:
300:
298:
295:
294:
290:
288:
285:
284:
280:
278:
275:
274:
269:
265:
263:
260:
259:
255:
253:
250:
249:
245:
243:
240:
239:
235:
233:
230:
229:
225:
223:
220:
219:
215:
213:
210:
209:
204:
199:
190:
188:
186:
184:
179:
175:
171:
167:
163:
162:developmental
159:
158:birth defects
154:
152:
148:
142:
140:
136:
132:
128:
124:
120:
116:
112:
108:
104:
100:
96:
92:
88:
84:
80:
71:
68:
66:
62:
57:
53:
48:
43:
35:
30:
19:
7224:
7204:
6772:(types I–IV)
6730:Diseases of
6687:
6613:
6600:
6587:
6577:
6567:
6506:
6386:
6346:ion channels
6343:
6323:
6296:
6273:
6243:
6229:
6205:
6178:
6164:
6137:
6123:
6109:
6095:
6076:
6057:
6026:
6012:
5988:
5974:
5947:
5913:
5899:
5885:
5871:
5852:
5838:
5824:
5810:
5770:
5764:
5758:
5744:
5738:
5696:
5677:
5663:
5634:
5615:
5591:
5548:
5529:
5523:Ligand gated
5504:
5485:
5466:
5442:
5418:
5334:
5322:
5310:
5297:
5296:
5243:
5221:
5209:
5197:
5170:
5158:
5146:
5134:
5122:
5110:
5103:TNF receptor
5073:
5061:
5028:
4965:
4936:
4924:
4907:
4883:
4855:
4839:
4827:
4782:
4759:
4736:
4713:
4701:
4681:
4669:
4653:
4633:
4621:
4594:deficiencies
4548:
4530:
4505:
4491:
4476:
4462:
4448:
4411:
4386:
4372:
4357:
4343:
4329:
4315:
4301:
4276:
4262:
4248:
4234:
4220:
4206:
4187:
4169:
4155:
4141:
4127:
4113:
4099:
4085:
4071:
4055:, membrane:
4052:
3999:
3993:Corepressor:
3974:
3968:Coactivator:
3924:
3910:
3896:
3819:
3800:
3700:
3675:
3661:
3647:
3633:
3619:
3605:
3591:
3572:
3547:
3533:
3514:
3500:
3486:
3472:
3447:
3428:
3414:
3400:
3386:
3367:
3353:
3339:
3325:
3311:
3292:
3035:
2910:Applications
2900:
2748:
2737:
2703:. Retrieved
2667:
2663:
2650:
2609:
2605:
2599:
2569:(2): 65–77.
2566:
2562:
2556:
2545:. Retrieved
2541:the original
2531:
2504:
2498:
2473:
2469:
2463:
2452:. Retrieved
2443:
2433:
2422:. Retrieved
2413:
2404:
2385:
2379:
2370:
2360:
2349:. Retrieved
2330:
2320:
2293:
2289:
2284:(May 1986).
2276:
2251:
2247:
2241:
2206:
2202:
2192:
2165:
2159:
2126:
2122:
2116:
2104:. Retrieved
2095:
2085:
2074:. Retrieved
2065:
2056:
2021:
2017:
2007:
1988:
1939:(1): 18577.
1936:
1932:
1922:
1889:
1885:
1879:
1854:
1850:
1844:
1809:
1805:
1795:
1784:. Retrieved
1775:
1766:
1733:
1729:
1723:
1698:
1694:
1688:
1677:. Retrieved
1668:
1659:
1624:
1620:
1610:
1599:. Retrieved
1590:
1581:
1557:
1549:the original
1544:
1534:
1526:
1496:
1492:
1454:
1450:
1403:(1): 48–54.
1400:
1396:
1386:
1375:. Retrieved
1366:
1339:. Retrieved
1330:
1307:. Retrieved
1303:the original
1298:
1289:
1255:(3): 59–71.
1252:
1249:Acta Naturae
1248:
1238:
1225:
1216:
1161:
1155:
1139:
1136:Epidemiology
1130:
1121:gene therapy
1118:
1115:Gene therapy
1064:
1028:
1013:
1000:
943:hypertension
928:cleft palate
923:ciliopathies
898:
887:
855:
840:nuclear gene
833:
822:
803:
799:
760:hemophilia A
756:
736:
731:type 2, and
717:X chromosome
714:
677:human genome
610:thalassaemia
598:tuberculosis
546:
491:
468:
463:
455:heterozygous
414:
410:
408:
386:1 in 10,000
361:1 in 57,000
357:Galactosemia
351:1 in 50,000
341:1 in 40,000
331:1 in 25,000
321:1 in 20,000
311:1 in 12,000
266:1 in 15,000
182:
164:rather than
155:
143:
135:Y chromosome
127:X chromosome
122:
106:
89:in a single
78:
76:
29:
6449:RCP 2&3
6157:TRP channel
4604:(including
2371:StatPearls
2106:20 February
1695:Circulation
1039:termination
973:infertility
376:1 in 5,000
301:1 in 3,000
291:1 in 2,000
256:1 in 4,000
246:1 in 5,000
236:1 in 2,500
226:1 in 2,100
191:Single-gene
6738:and other
6688:See also:
6615:centrosome
6589:basal body
6561:Structural
6507:See also:
6444:Acatalasia
6344:See also:
4807:(including
4284:Cystinuria
4163:Cystinuria
2750:DiseasesDB
2705:2023-02-20
2547:2008-07-15
2454:2023-11-01
2424:2023-11-01
2351:2023-02-20
2076:2019-07-01
1786:2019-07-01
1679:2019-07-01
1601:2019-07-01
1377:2020-01-14
1341:2020-01-14
1309:2020-01-14
1208:References
1113:See also:
1047:ultrasound
1035:stillbirth
983:See also:
883:penetrance
671:Schematic
495:penetrance
399:See also:
382:Hemophilia
166:hereditary
99:chromosome
7225:see also
6629:Signaling
6568:receptor:
6489:Lysosomal
5160:TNFRSF13B
5148:TNFRSF13C
5124:TNFRSF13B
4549:see also
4059:disorders
3890:Ungrouped
2958:SNP array
2670:: 54–61.
2642:206550787
2476:(4): 33.
1836:237480065
1621:Neurology
1539:Hunt JD.
1097:Treatment
1061:Prognosis
1016:pre-birth
1010:Diagnosis
890:Mendelian
871:phenotype
796:Y linkage
703:Karyotype
673:karyogram
649:and many
629:carriers.
471:metabolic
435:autosomal
366:X-linked
281:1 in 625
216:1 in 500
185:mutations
129:and have
111:inherited
65:Specialty
7241:Category
7115:(type 2)
7104:(type 2)
7015:(type 1)
6959:(type 1)
6948:(type 1)
6812:(type 2)
6732:collagen
6509:proteins
6198:Connexin
5348:See also
5278:Integrin
5112:TNFRSF1A
5050:JAK-STAT
4984:Endoglin
4486:, GSD-Ib
4367:, GSD-Ic
2696:Archived
2692:85502058
2684:30904040
2634:23970689
2591:37123019
2583:23355455
2490:28324302
2448:Archived
2418:Archived
2345:Archived
2282:Woolf LI
2268:19442502
2233:17015291
2143:16444273
2100:Archived
2070:Archived
2048:37093545
2039:10272040
1971:31819097
1906:15758612
1871:21429801
1828:34507795
1780:Archived
1776:omim.org
1758:46151626
1750:17240289
1715:18506019
1673:Archived
1669:omim.org
1651:33472919
1595:Archived
1591:omim.org
1570:Archived
1523:30509934
1471:11499815
1429:33350578
1371:Archived
1367:Orphanet
1335:Archived
1281:23150804
1230:Archived
1181:FINDbase
1175:See also
1083:autonomy
1020:at birth
933:diabetes
911:such as
867:genotype
863:diabetes
790:Y-linked
737:in utero
596:such as
554:albinism
464:in vitro
443:dwarfism
439:X-linked
131:X-linked
87:mutation
7161:Laminin
6736:laminin
5628:GEFS+ 1
5604:GEFS+ 2
5487:CACNA1S
5468:CACNA1F
5444:CACNA1C
5420:CACNA1A
5271:AGM3, 6
5172:TNFRSF6
5136:TNFRSF5
4776:Class F
4753:Class C
4730:Class B
4615:Class A
4606:hormone
4532:SLC54A1
4507:SLC40A1
4493:SLC39A4
4478:SLC37A4
4470:CDOG 2C
4464:SLC35C1
4450:SLC26A4
4427:type 1B
4413:SLC26A2
4388:SLC17A8
4374:SLC17A5
4359:SLC17A3
4345:SLC16A2
4331:SLC16A1
4317:SLC12A3
4303:SLC11A1
4250:SLC6A19
4189:SLC4A11
4143:SLC2A10
4093:SPATCCM
3641:ACD/MPV
2850:Biobank
2744:D030342
2614:Bibcode
2606:Science
2312:3717163
2303:1684820
2224:2358959
2151:3201966
1962:6901466
1941:Bibcode
1914:9382420
1642:8055332
1514:6279436
1420:7986124
1272:3491892
1158:hominid
1152:History
963:obesity
918:cancers
626:enzymes
602:malaria
459:malaria
419:mutated
174:cancers
172:. Most
107:de novo
7140:COL18:
7124:COL17:
7112:
7101:
7091:COL12:
7077:
7062:COL11:
7046:COL10:
7034:
7012:
6956:
6945:
6920:
6871:
6835:
6809:
6780:
6769:
6578:cargo:
6180:TRPML1
6139:CLCNKB
6028:KCNJ18
6014:KCNJ11
5772:SCNN1G
5766:SCNN1B
5760:SCNN1A
5746:SCNN1G
5740:SCNN1B
5506:CACNB2
5479:CSNB2A
5324:BMPR1A
5075:CSF2RA
5030:GUCY2D
5006:TGFBR2
5002:TGFBR1
4715:PTGER2
4394:DFNA25
4278:SLC7A9
4264:SLC7A7
4236:SLC5A5
4222:SLC5A2
4208:SLC5A1
4171:SLC4A1
4157:SLC3A1
4129:SLC2A5
4115:SLC2A2
4101:SLC2A1
4087:SLC1A4
4073:SLC1A3
3976:CREBBP
3796:MODY 5
3791:MODY 3
3555:STHAG3
3508:MODY 9
3416:POU3F4
3408:DFNA15
3402:POU4F3
3347:MODY 4
3327:HOXD13
3235:MRX 89
3230:MODY 7
3164:MODY 1
2690:
2682:
2640:
2632:
2589:
2581:
2519:
2488:
2392:
2337:
2310:
2300:
2266:
2231:
2221:
2180:
2149:
2141:
2046:
2036:
1995:
1969:
1959:
1912:
1904:
1869:
1834:
1826:
1756:
1748:
1730:Lancet
1713:
1649:
1639:
1521:
1511:
1469:
1427:
1417:
1279:
1269:
904:asthma
766:, and
586:earwax
580:, and
529:, and
83:genome
7206:TECTA
7183:Other
7024:COL9:
7002:COL8:
6428:RCP 1
6316:Porin
6172:FSGS2
6166:TRPC6
6125:BEST1
6111:CLCN7
6097:CLCN5
6078:CLCN1
6020:TNDM3
5990:KCNJ2
5976:KCNJ1
5955:BFNS1
5949:KCNQ2
5915:KCNQ1
5901:KCNH2
5887:KCNE3
5873:KCNE2
5854:KCNE1
5840:KCNC3
5826:KCNA5
5812:KCNA1
5698:SCN9A
5679:SCN5A
5665:SCN4B
5636:SCN4A
5617:SCN1B
5593:SCN1A
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5556:CPVT1
5336:IL2RG
5312:PTCH1
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4295:11-20
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