MCID: NLP001
MIFTS: 55

Nail-Patella Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Nail-Patella Syndrome

MalaCards integrated aliases for Nail-Patella Syndrome:

Name: Nail-Patella Syndrome 57 12 24 53 25 59 75 29 13 55 6 44 15 40 73
Fong Disease 57 12 24 53 25
Turner-Kieser Syndrome 57 53 25 59
Onychoosteodysplasia 57 53 59 75
Hereditary Osteo-Onychodysplasia 24 25
Nps 57 75
Hereditary Onycho-Osteodysplasia 25
Hereditary Onychoostedysplasia 12
Arthro-Onychodysplasia 53
Nail Patella Syndrome 12
Turner-Kiser Syndrome 12
Osteo-Onychodysplasia 53
Osterreicher Syndrome 25
Pelvic Horn Syndrome 25
Iliac Horn Syndrome 12
Nps 1 53
Nps1 57

Characteristics:

Orphanet epidemiological data:

59
nail-patella syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (United Kingdom),1-9/100000 (Europe); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
nail-patella syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Nps is fully penetrant, although the range and severity of symptoms may be extremely variable...

Classifications:



Summaries for Nail-Patella Syndrome

NIH Rare Diseases : 53 Nail-patella syndrome causes changes in the nails, elbows, kneecaps (patellae), and hip bone. The most common symptom of the syndrome is having missing or underdeveloped fingernails and toenails. Other symptoms may include having small or missing kneecaps, underdeveloped elbows, and an extra small piece of bone on both sides of the hip (called iliac horns). People with nail-patella syndrome are at an increased risk for developing high fluid pressure in the eye (glaucoma) and kidney disease.  Nail-patella syndrome is caused by genetic changes (pathogenic variants or mutations) in the LMX1B gene. The syndrome is inherited in an autosomal dominant manner. Diagnosis is usually suspected when a person has symptom of the syndrome. The diagnosis can be confirmed by genetic testing. Treatment for nail-patella syndrome may include physical therapy or surgery for joint problems. Other treatments depend on the symptoms present in each person. 

MalaCards based summary : Nail-Patella Syndrome, also known as fong disease, is related to iga glomerulonephritis and renal dysplasia, and has symptoms including arthralgia, metatarsalgia and koilonychia. An important gene associated with Nail-Patella Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta), and among its related pathways/superpathways are Primary Focal Segmental Glomerulosclerosis FSGS and Nephrin/Neph1 signaling in the kidney podocyte. Affiliated tissues include bone, kidney and eye, and related phenotypes are osteoarthritis and hypertension

Genetics Home Reference : 25 Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.

UniProtKB/Swiss-Prot : 75 Nail-patella syndrome: Disease that cause abnormal skeletal patterning and renal dysplasia.

Wikipedia : 76 Nail–patella syndrome (NPS) is a genetic disorder that results in small, poorly developed nails and... more...

Description from OMIM: 161200
GeneReviews: NBK1132

Related Diseases for Nail-Patella Syndrome

Diseases related to Nail-Patella Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 103, show less)
# Related Disease Score Top Affiliating Genes
1 iga glomerulonephritis 29.7 CD2AP NPHS2
2 renal dysplasia 29.7 LMX1B PAX2
3 membranous nephropathy 29.1 CD2AP NPHS2
4 kidney disease 27.6 CD2AP COL4A4 LMX1B NPHS2 PAX2
5 pterygium, antecubital 11.4
6 anxiety 11.4
7 niemann-pick disease 11.4
8 niemann-pick disease, type c1 11.2
9 nail-patella-like renal disease 11.2
10 salcedo syndrome 11.2
11 buschke-ollendorff syndrome 11.1
12 holoprosencephaly 3 10.9
13 perry syndrome 10.9
14 reflex sympathetic dystrophy 10.9
15 spinocerebellar ataxia 23 10.9
16 retinitis pigmentosa 68 10.9
17 dissociative amnesia 10.9
18 autonomic nervous system disease 10.9
19 indeterminate leprosy 10.9
20 diverticulitis of colon 10.9
21 epicondylitis 10.9
22 alcohol-induced mental disorder 10.9
23 alcoholic psychosis 10.9
24 neurodermatitis 10.9
25 dental pulp disease 10.9
26 sleep disorder 10.9
27 amphetamine abuse 10.9
28 cloacogenic carcinoma 10.9
29 sebaceous gland disease 10.9
30 pruritus, hereditary localized 10.9
31 marfan lipodystrophy syndrome 10.9
32 necrotizing ulcerative gingivitis 10.9
33 notalgia paresthetica 10.9
34 migraine with or without aura 1 10.8
35 disease of mental health 10.8
36 nasal cavity disease 10.8
37 narcolepsy 10.8
38 nephrotic syndrome 10.3
39 influenza 10.2
40 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 10.2 CD2AP NPHS2
41 atrial septal defect 3 10.1 CD2AP NPHS2
42 familial nephrotic syndrome 10.1 CD2AP NPHS2
43 nephrotic syndrome, type 1 10.1 CD2AP NPHS2
44 ischiocoxopodopatellar syndrome 10.1
45 open-angle glaucoma 10.1
46 arthropathy 10.1
47 lipoid nephrosis 10.1 CD2AP NPHS2
48 alport syndrome, autosomal recessive 10.1 COL4A4 LMX1B
49 aging 10.0
50 avian influenza 10.0
51 achondroplasia 9.9
52 atrial standstill 1 9.9
53 ehlers-danlos syndrome, classic type, 1 9.9
54 attention deficit-hyperactivity disorder 9.9
55 neurofibromatosis, type i 9.9
56 patella aplasia-hypoplasia 9.9
57 tuberous sclerosis 1 9.9
58 anus, imperforate 9.9
59 familial mediterranean fever 9.9
60 mitochondrial myopathy 9.9
61 oeis complex 9.9
62 major depressive disorder 9.9
63 ewing sarcoma 9.9
64 nail disorder, nonsyndromic congenital, 9 9.9
65 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
66 glomerulonephritis 9.9
67 hereditary hemorrhagic telangiectasia 9.9
68 osteoarthritis 9.9
69 omphalocele 9.9
70 sensorineural hearing loss 9.9
71 pre-eclampsia 9.9
72 brucellosis 9.9
73 sarcoma 9.9
74 hemolytic-uremic syndrome 9.9
75 crescentic glomerulonephritis 9.9
76 diarrhea 9.9
77 ehlers-danlos syndrome 9.9
78 tuberous sclerosis 9.9
79 eclampsia 9.9
80 hypothyroidism 9.9
81 dermatitis 9.9
82 myopathy 9.9
83 paget's disease of bone 9.9
84 vasculitis 9.9
85 cleft lip 9.9
86 type i 9.9
87 absent patella 9.9
88 bowen's disease 9.9
89 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 9.9
90 pectus carinatum 9.9
91 depression 9.9
92 cleft lip/palate 9.9
93 frasier syndrome 9.9 CD2AP NPHS2
94 neuronitis 9.9
95 diffuse mesangial sclerosis 9.9 NPHS2 PAX2
96 nephrogenic adenofibroma 9.9 PAX2 PDLIM5
97 diabetes insipidus, neurohypophyseal 9.8
98 lung cancer 9.8
99 asthma 9.8
100 lymphocytic choriomeningitis 9.8
101 focal segmental glomerulosclerosis 1 9.5 CD2AP NPHS2 PAX2
102 denys-drash syndrome 9.4 CD2AP NPHS2 PAX2
103 focal segmental glomerulosclerosis 8.8 CD2AP COL4A4 NPHS2 PAX2

Graphical network of the top 20 diseases related to Nail-Patella Syndrome:



Diseases related to Nail-Patella Syndrome

Symptoms & Phenotypes for Nail-Patella Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
cataract
glaucoma
microcornea
keratoconus
more
Growth Height:
short stature

Head And Neck Mouth:
cleft palate
cleft lip

Skin Nails Hair Nails:
anonychia
longitudinal ridging
abnormally shaped triangular or absent lunulae
slow nail growth
koilonychia
more
Neurologic Central Nervous System:
spina bifida

Chest Ribs Sternum Clavicles And Scapulae:
thickening of the lateral border of the scapula
glenoid hypoplasia
malformed sternum
hypoplasia of first ribs

Head And Neck Ears:
sensorineural hearing loss

Muscle Soft Tissue:
pectoralis minor aplasia
biceps aplasia
triceps aplasia
quadriceps aplasia

Skeletal Spine:
scoliosis
spina bifida

Laboratory Abnormalities:
proteinuria
hematuria

Genitourinary Kidneys:
nephrotic syndrome
renal failure
glomerulonephritis

Skeletal Feet:
talipes equinovarus

Skeletal Limbs:
patellar dislocation
elongated radius with hypoplasia of radial head
elbow deformities (60-90%) with limited range of motion
hypoplastic or absent patella (60-90%)
disproportionate prominence of the femoral medial condyle

Skeletal Hands:
fifth finger clinodactyly

Skeletal Pelvis:
iliac horns arising from external iliac fossa


Clinical features from OMIM:

161200

Human phenotypes related to Nail-Patella Syndrome:

59 32 (showing 63, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 frequent (33%) Frequent (79-30%) HP:0002758
2 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
3 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
7 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
8 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
9 nephropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000112
10 joint swelling 59 32 frequent (33%) Frequent (79-30%) HP:0001386
11 exostoses 59 32 hallmark (90%) Very frequent (99-80%) HP:0100777
12 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
13 cubitus valgus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002967
14 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
15 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
16 nephrotic syndrome 59 32 frequent (33%) Frequent (79-30%) HP:0000100
17 glomerulopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100820
18 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
19 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
20 patellar dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002999
21 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
22 ridged nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001807
23 aplasia/hypoplasia of the patella 59 32 hallmark (90%) Very frequent (99-80%) HP:0006498
24 concave nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001598
25 thickening of the lateral border of the scapula 59 32 hallmark (90%) Very frequent (99-80%) HP:0006650
26 iliac horns 59 32 hallmark (90%) Very frequent (99-80%) HP:0009780
27 pectus excavatum 32 HP:0000767
28 joint dislocation 59 Frequent (79-30%)
29 ptosis 32 HP:0000508
30 scoliosis 32 HP:0002650
31 pes planus 32 HP:0001763
32 sensorineural hearing impairment 32 HP:0000407
33 short stature 32 HP:0004322
34 cleft palate 32 HP:0000175
35 clinodactyly of the 5th finger 32 HP:0004209
36 anonychia 32 HP:0001798
37 talipes equinovarus 32 HP:0001762
38 spina bifida 32 HP:0002414
39 abnormality of the elbow 59 Very frequent (99-80%)
40 abnormality of the upper limb 59 Frequent (79-30%)
41 cleft upper lip 32 HP:0000204
42 microcornea 32 HP:0000482
43 keratoconus 32 HP:0000563
44 abnormality of the lower limb 59 Frequent (79-30%)
45 abnormality of the toenails 59 Very frequent (99-80%)
46 aplastic/hypoplastic toenail 59 Very frequent (99-80%)
47 lumbar hyperlordosis 32 HP:0002938
48 microphakia 32 HP:0012376
49 limited elbow extension 32 HP:0001377
50 patellar aplasia 32 frequent (33%) HP:0006443
51 antecubital pterygium 32 HP:0009760
52 absent distal interphalangeal creases 32 HP:0001032
53 glenoid fossa hypoplasia 32 HP:0006633
54 hypoplasia of first ribs 32 HP:0006657
55 glomerulonephritis 32 HP:0000099
56 disproportionate prominence of the femoral medial condyle 32 HP:0006437
57 biceps aplasia 32 HP:0009783
58 triceps aplasia 32 HP:0009785
59 quadriceps aplasia 32 HP:0009788
60 absence of pectoralis minor muscle 32 HP:0005255
61 hypoplastic radial head 32 HP:0003997
62 elongated radius 32 HP:0006424
63 lester's sign 32 HP:0009781

UMLS symptoms related to Nail-Patella Syndrome:


arthralgia, metatarsalgia, koilonychia

MGI Mouse Phenotypes related to Nail-Patella Syndrome:

46 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 AK1 CD2AP COL5A1 LMX1B NPHS2 PAX2
2 mortality/aging MP:0010768 9.76 LMX1B NPHS2 PAX2 PDLIM5 ASS1 CD2AP
3 renal/urinary system MP:0005367 9.35 CD2AP COL4A4 LMX1B NPHS2 PAX2
4 vision/eye MP:0005391 9.02 ASS1 COL4A4 COL5A1 LMX1B PAX2

Drugs & Therapeutics for Nail-Patella Syndrome

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Study of Heritable Connective Tissue Disorders Completed NCT00001641

Search NIH Clinical Center for Nail-Patella Syndrome

Cochrane evidence based reviews: nail-patella syndrome

Genetic Tests for Nail-Patella Syndrome

Genetic tests related to Nail-Patella Syndrome:

# Genetic test Affiliating Genes
1 Nail-Patella Syndrome 29 LMX1B

Anatomical Context for Nail-Patella Syndrome

MalaCards organs/tissues related to Nail-Patella Syndrome:

41
Bone, Kidney, Eye, Testes, Skin, Heart, Lymph Node

Publications for Nail-Patella Syndrome

Articles related to Nail-Patella Syndrome:

(showing 242, show less)
# Title Authors Year
1
Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy. ( 29515307 )
2018
2
Nail-patella syndrome: clinical clues for making the diagnosis. ( 29554154 )
2018
3
Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report. ( 29664512 )
2018
4
Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail-patella syndrome. KSSTA 2017 Oct;25(10):3012-3016. https://doi.org/10.1007/s00167-016-4044-y. Epub 2016 Feb 12. ( 29594322 )
2018
5
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation. ( 28335748 )
2017
6
A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B. ( 29290531 )
2017
7
Prenatal diagnosis of nail patella syndrome: A case report. ( 29089684 )
2017
8
AJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy. ( 28941488 )
2017
9
Nail-patella syndrome. ( 28681095 )
2017
10
Radiological characteristics of the knee joint in nail patella syndrome. ( 27037430 )
2016
11
Management of patellar problems in skeletally mature patients with nail-patella syndrome. ( 26872454 )
2016
12
Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology. ( 27247258 )
2016
13
Nail-patella syndrome: report of 11 pediatric cases. ( 27109743 )
2016
14
50 Years Ago in The Journal of Pediatrics: The Nail-Patella Syndrome: Clinical and Genetic Aspects of 5 Kindreds with 38 Affected Family Members. ( 26810100 )
2016
15
Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report. ( 27284321 )
2016
16
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy. ( 27450397 )
2016
17
Median nail damage in nail-patella syndrome associated with triangular lunulae. ( 26042812 )
2015
18
Radiographic findings in the nail-patella syndrome. ( 26130880 )
2015
19
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity. ( 25898926 )
2015
20
Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey. ( 26596417 )
2015
21
Spontaneous coronary artery dissection in a parturient with Nail-Patella syndrome. ( 25433575 )
2015
22
Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance. ( 26025008 )
2015
23
Nail-patella syndrome. ( 25763426 )
2015
24
Arthropathy and proteinuria: nail-patella syndrome revisited. ( 25408626 )
2014
25
Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome. ( 24720768 )
2014
26
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome. ( 25380522 )
2014
27
Intercondylar synovial septum in two patients with nail-patella syndrome. ( 23288746 )
2013
28
Quiz page December 2013: Hypoplastic nails, bowed elbows, and nephrotic syndrome. Nail-patella syndrome (hereditary osteo-onychodysplasia, Turner-Keiser syndrome, Fong disease). ( 24267390 )
2013
29
Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature. ( 24029584 )
2013
30
Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described. ( 23897191 )
2013
31
Nail-patella syndrome-a novel mutation in the LMX1B gene. ( 26064490 )
2013
32
A case of ectopic cilia in nail-patella syndrome. ( 22441588 )
2012
33
A case of nail-patella syndrome associated with thyrotoxicosis. ( 22574102 )
2012
34
A hypoplastic patella fracture in nail patella syndrome: a case report. ( 22800460 )
2012
35
Nail patella syndrome: a rare cause of renal failure in a young adult. ( 22145064 )
2011
36
Nail-patella syndrome. ( 21952482 )
2011
37
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma. ( 21850167 )
2011
38
The co-occurrence of neurofibromatosis type I and nail-patella syndrome in a 5-generation pedigree. ( 21920246 )
2011
39
Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function. ( 21184584 )
2011
40
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. ( 20531206 )
2010
41
Nail-patella syndrome associated with short stature: a case series. ( 20811572 )
2010
42
Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in a child with nail-patella syndrome. ( 20880310 )
2010
43
Nail-patella syndrome with an emphasis on the risk of renal and ocular findings. ( 20199424 )
2010
44
Nail-patella syndrome (Fong disease). ( 20143059 )
2010
45
Renal involvement in nail-patella syndrome: report of three cases. ( 19296234 )
2010
46
Nail-patella syndrome--a preliminary study for genetic linkage with ABO blood group. ( 21510571 )
2010
47
Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development. ( 19222527 )
2009
48
Clinico-genetic study of nail-patella syndrome. ( 19194568 )
2009
49
Nail patella syndrome. ( 19907953 )
2009
50
Kidney disease in nail-patella syndrome. ( 18535845 )
2009
51
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. ( 19147669 )
2009
52
A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome. ( 19721866 )
2009
53
Nail-patella syndrome, infantile nephrotic syndrome: complete remission with antiproteinuric treatment. ( 19541663 )
2009
54
Nail-patella syndrome and renal involvement. Description of three cases and literature review. ( 18538102 )
2008
55
Gene symbol: LMX1B. Disease: Nail-patella syndrome. ( 18846612 )
2008
56
Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl. ( 18533963 )
2008
57
Gene symbol: LMX1B. Disease: Nail-Patella syndrome. ( 18386349 )
2008
58
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. ( 18414507 )
2008
59
How are podocytes affected in nail-patella syndrome? ( 18253764 )
2008
60
Nail patella syndrome. ( 18543759 )
2008
61
A novel LMX1B nonsense mutation in a family with nail-patella syndrome. ( 18562181 )
2008
62
A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family. ( 18595794 )
2008
63
Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome. ( 18186852 )
2008
64
Nail-Patella syndrome: a case report and anesthetic implications. ( 17934166 )
2007
65
Nail-patella syndrome associated with Ewing sarcoma. ( 17696103 )
2007
66
Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis. ( 17710881 )
2007
67
Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy. ( 17291523 )
2007
68
Multiple triangular lunula unguis: a specific finding for the nail-patella syndrome. ( 18210914 )
2007
69
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma. ( 17515884 )
2007
70
Nail patella syndrome. ( 18085198 )
2007
71
Nail-patella syndrome and its association with glaucoma: a review of eight families. ( 16825280 )
2006
72
[The nail-patella syndrome: rare genetically determined cause of proteinuria]. ( 18634531 )
2006
73
Steroid-responsive nephrotic syndrome in a patient with nail-patella syndrome. ( 16807765 )
2006
74
Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome. ( 16902295 )
2006
75
Quiz page. Nail-patella syndrome. ( 16933400 )
2006
76
Functional characterization of LMX1B mutations associated with nail-patella syndrome. ( 15774843 )
2005
77
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression. ( 15562281 )
2005
78
[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]. ( 16085960 )
2005
79
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. ( 15928687 )
2005
80
Skeletal integrity in patients with nail patella syndrome. ( 15623820 )
2005
81
Nail patella syndrome revisited: 50 years after linkage. ( 15996164 )
2005
82
Imaging of nail-patella syndrome. ( 15815066 )
2005
83
Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome. ( 15785774 )
2005
84
Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome. ( 15638822 )
2005
85
Arthroscopic findings in the knee in nail-patella syndrome: a case report. ( 15650657 )
2005
86
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. ( 14699618 )
2004
87
Bilateral absence of the patella in nail-patella syndrome: delayed presentation with anterior knee instability. ( 15483536 )
2004
88
Nail-patella syndrome in Saudi Arabia with new features and surgical procedures: the first described study. ( 15266233 )
2004
89
Noncompaction on cardiac MRI in a patient with nail-patella syndrome and mitochondriopathy. ( 12975547 )
2003
90
An ophthalmic screening protocol for nail-patella syndrome. ( 12580274 )
2003
91
In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys. ( 12819019 )
2003
92
Nail-patella syndrome. ( 14639389 )
2003
93
Bilateral hip dislocation and pubic diastasis in familial nail-patella syndrome. ( 12650329 )
2003
94
[From gene to disease; the nail-patella syndrome and the LMX1B gene]. ( 12602071 )
2003
95
Nail-patella syndrome: long term evolution. ( 12488765 )
2003
96
Nail patella syndrome: a review of the phenotype aided by developmental biology. ( 12624132 )
2003
97
Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome. ( 12792813 )
2003
98
Nail-patella syndrome. Overview on clinical and molecular findings. ( 12215822 )
2002
99
Nail patella syndrome. A 55-year follow-up of the original description. ( 12370586 )
2002
100
Musculoskeletal case 22. Nail patella syndrome. ( 12067176 )
2002
101
Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes. ( 11978876 )
2002
102
Nail-patella syndrome--renal and musculo-skeletal features. ( 11773489 )
2002
103
Nail-patella syndrome with renal involvement and antecubital pterygia. ( 12645195 )
2002
104
What syndrome is this? Nail-patella syndrome. ( 12383107 )
2002
105
The association of Buschke-Ollendorf syndrome and nail-patella syndrome. ( 11907523 )
2002
106
The course of pregnancy in a patient with nail-patella syndrome. ( 12061296 )
2002
107
IgA nephropathy associated with Nail-Patella syndrome in a 7-year-old girl. ( 11472596 )
2001
108
Nail-patella syndrome associated with respiratory chain disorder. ( 11528158 )
2001
109
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome. ( 11175791 )
2001
110
Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients. ( 11668639 )
2001
111
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome. ( 11303519 )
2001
112
Achondroplasia and nail-patella syndrome: the compound phenotype. ( 10978372 )
2000
113
LMX1B transactivation and expression in nail-patella syndrome. ( 10767331 )
2000
114
What is your diagnosis? Nail-patella syndrome. ( 10916696 )
2000
115
Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families. ( 10966502 )
2000
116
Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome. ( 10854116 )
2000
117
Bilateral accessory iliac horns: pathognomonic findings in Nail-patella syndrome. Scintigraphic evidence on bone scan. ( 10836702 )
2000
118
Surgical management of congenital permanent dislocation of the patella in nail patella syndrome by Stanisavljevic procedure. ( 10664428 )
1999
119
Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome. ( 10094193 )
1999
120
Early prenatal diagnosis of nail-patella syndrome by ultrasonography. ( 10327020 )
1999
121
Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome. ( 10425280 )
1999
122
Nail-patella syndrome and IgA nephropathy in a Chinese woman. ( 10643004 )
1999
123
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma. ( 10488864 )
1999
124
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients. ( 10571942 )
1999
125
Prenatal diagnosis of nail-patella syndrome. ( 10210133 )
1999
126
Nail-patella syndrome: an incidental finding from abdominal discomfort. ( 10624918 )
1999
127
Ultrasound prenatal diagnosis of the Nail-Patella syndrome. ( 9742578 )
1998
128
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. ( 9590287 )
1998
129
Treatment of antecubital pterygium in the nail-patella syndrome. ( 9481653 )
1998
130
Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. ( 9590288 )
1998
131
Mutation analysis of LMX1B gene in nail-patella syndrome patients. ( 9837817 )
1998
132
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs. ( 9856502 )
1998
133
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier. ( 9781017 )
1998
134
Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. ( 9618165 )
1998
135
Linkage analysis in two large Italian pedigrees affected with nail patella syndrome. ( 9781042 )
1998
136
Renal transplantation from a donor with a nail-patella syndrome. ( 9269666 )
1997
137
Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. ( 9133358 )
1997
138
Total knee arthroplasty for osteoarthritis in hereditary onycho-osteodysplasia (nail-patella syndrome): a case report. ( 9040887 )
1997
139
Cosegregation of open-angle glaucoma and the nail-patella syndrome. ( 9323941 )
1997
140
Fine mapping of the nail-patella syndrome locus at 9q34. ( 8981956 )
1997
141
Imaging of "iliac horns" in nail-patella syndrome. ( 8708050 )
1996
142
[Nail-patella syndrome]. ( 9036142 )
1996
143
Medial Flatness of the Femoral Trochlea in the Nail Patella Syndrome. ( 20470500 )
1995
144
Linkage analysis of the nail-patella syndrome. ( 7825584 )
1995
145
Quiz. Osteo-onychodysplasia (nail-patella syndrome). ( 7587527 )
1995
146
Diarrhea-associated hemolytic-uremic syndrome in a child with nail-patella syndrome. ( 7597489 )
1995
147
Pathognomonic sign of triangular lunulae in the nail-patella syndrome. ( 7753476 )
1995
148
COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. ( 7759113 )
1995
149
Clavicular horn: another bony projection in nail-patella syndrome. ( 8545188 )
1995
150
Sensorineural hearing loss and nail patella syndrome. ( 8198793 )
1994
151
Bilateral renal stones associated with nail-patella syndrome. ( 7870239 )
1994
152
Nail-patella syndrome. ( 8083552 )
1994
153
A case report of an Irish family displaying nail-patella syndrome. ( 8473128 )
1993
154
Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus? ( 8462976 )
1993
155
Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome. ( 8403448 )
1993
156
Nail-patella syndrome and pre-eclampsia. ( 8163040 )
1993
157
Nail-Patella Syndrome ( 20301311 )
1993
158
[Nail-patella syndrome associated with monoclonal gammopathy. Review regarding a case]. ( 8235167 )
1993
159
Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy. ( 8368242 )
1993
160
Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. ( 1572660 )
1992
161
Clinical quiz. Nail-patella syndrome (NPS) (hereditary osteo-onychodysplasia). ( 1616848 )
1992
162
Nail-patella syndrome. Image correlation. ( 1464182 )
1992
163
Nail-patella syndrome associated with mixed crystal deposition arthropathy. ( 1333935 )
1992
164
Hereditary onycho-osteodysplasia (nail-patella syndrome). A three-generation familial study. ( 2023790 )
1991
165
Nail patella syndrome: a review of 44 orthopaedic patients. ( 1960197 )
1991
166
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. ( 2012138 )
1991
167
Nail-patella syndrome with some unusual features. ( 2079475 )
1990
168
Nail-patella syndrome: hereditary onchyo-osteodysplasia diagnosis by Tc-99m MDP bone scan. ( 2306900 )
1990
169
Shoulder girdle dysplasia associated with nail patella syndrome. A case report and literature review. ( 2642772 )
1989
170
Variability of the antigenicity of the glomerular basement membrane in nail-patella syndrome. ( 2474137 )
1989
171
Case report 548: Nail-patella syndrome(hereditary onycho-osteodysplasia) with congenital absence of the fibulae. ( 2675322 )
1989
172
Living-related renal transplantation in a patient with nail-patella syndrome. ( 3065663 )
1988
173
Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy. ( 3225824 )
1988
174
Renal histopathology of the nail-patella syndrome in a two-year-old boy. ( 3365866 )
1988
175
Nephropathy of nail-patella syndrome. ( 3284122 )
1988
176
The nail-patella syndrome. ( 3394605 )
1988
177
Vasculitis and renal disease in nail-patella syndrome: case report and literature review. ( 3662646 )
1987
178
Computed tomography of "iliac horns" in hereditary osteo-onychodysplasia (nail-patella syndrome). ( 3562114 )
1987
179
Nail-patella syndrome diagnosed during evaluation of chronic renal failure--report of two cases. ( 3452789 )
1987
180
Bilateral first-rib hypoplasia: a new feature of the nail-patella syndrome. ( 3732578 )
1986
181
Nail-patella syndrome (hereditary osteo-onychodysplasia). A case report. ( 3793464 )
1986
182
Membranous nephropathy in a patient with nail-patella syndrome nephropathy. ( 3983624 )
1985
183
Nail patella syndrome. ( 4030686 )
1985
184
An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred. ( 6507504 )
1984
185
Cystic adventitial degeneration of the popliteal artery. Its occurrence in a patient with the nail-patella syndrome. ( 6687538 )
1983
186
Angiofollicular lymph node hyperplasia causing a neck mass in nail-patella syndrome. ( 6846279 )
1983
187
Long-term follow-up of the treatment of a family with nail-patella syndrome. ( 6874935 )
1983
188
The nail-patella syndrome--a report of two cases and a literature review. ( 6824825 )
1983
189
The nail-patella syndrome. ( 7276358 )
1981
190
Electron microscope study of renal lesions in nail-patella syndrome. ( 6804325 )
1981
191
Nail-patella syndrome. A distinctive clinical and electron microscopic presentation. ( 7451692 )
1980
192
Nail--patella syndrome associated with renal failure requiring transplantation. ( 6162320 )
1980
193
Palmar-plantar hyperhidrosis occurring in a kindred with nail-patella syndrome. ( 7204680 )
1980
194
Triangular lunulae. A clue to nail-patella syndrome. ( 7369778 )
1980
195
Nail-patella syndrome. ( 7418282 )
1980
196
The Nail Patella syndrome--a report of a family. ( 266888 )
1977
197
Nail-patella syndrome. ( 612684 )
1977
198
Goodpasture's syndrome in a patient with the Nail-Patella syndrome. ( 961703 )
1976
199
Familial colon carcinoma in nail-patella syndrome. ( 1147145 )
1975
200
Nail-Patella Syndrome. A report of a Kansas family. ( 1185024 )
1975
201
An Indian family with the nail-patella syndrome. ( 4452599 )
1974
202
The nail-patella syndrome-pathogenesis of the kidney lesion. ( 4470908 )
1974
203
Nail-patella syndrome: report of three cases in the same family. ( 4496823 )
1974
204
Nail-Patella syndrome. Light and electron microscopic studies of the kidney. ( 4682988 )
1973
205
The nail-patella syndrome. A report of three families. ( 4693887 )
1973
206
The nephropathy of the nail-patella syndrome. Clinicopathologic analysis of 11 kindred. ( 4569963 )
1973
207
Renal transplantation for the nail patella syndrome. ( 4575683 )
1973
208
Renal disease in nail-patella syndrome: clinical and morphologic studies. ( 4571998 )
1972
209
The glomerular basement membrane in the nail-patella syndrome. ( 5110573 )
1971
210
Onycho-osteodysplasia--the nail-patella syndrome. A report of two cases. ( 5134053 )
1971
211
Hereditary onycho-osteodysplasia (the nail-patella syndrome) with nephrosis-like renal disease in a newborn boy. ( 5423458 )
1970
212
Heredity osteo-onycho-dysplasia (Nail-Patella syndrome). Report of an affected family and two severely disabled sporadic cases. ( 4915921 )
1970
213
Nail-Patella syndrome. Study of an affected family. ( 5436203 )
1970
214
Ultrastructure of the kidney in the nephropathy of the nail--patella syndrome. ( 5484038 )
1970
215
The nail-patella syndrome. ( 5427659 )
1970
216
Hereditary onycho-osteodysplasia (Nail-Patella syndrome). A report of nine kindreds. ( 5778286 )
1969
217
Hereditary osteo-onycho-dysplasia (nail-patella syndrome). ( 5779212 )
1969
218
Linkage of the loci for the nail-patella syndrome and adenylate kinase. ( 5365763 )
1969
219
Nail-patella syndrome. ( 5362299 )
1969
220
Hereditary osteo-onycho-dysplasia--the nail-patella syndrome. ( 5652760 )
1968
221
Hereditary osteo-onycho-dysplasia. The nail-patella syndrome. ( 6073380 )
1967
222
Hereditary onycho osteodysplasia (nail-patella syndrome) masquerading as arthrogryposis. ( 6029327 )
1967
223
The Nail-Patella syndrome. Clinical findings and ultrastructural observations in the kidney. ( 6028699 )
1967
224
Onycho-osteodysplasia (the nail-patella syndrome) with pectus carinatum--report of a family. ( 6079099 )
1967
225
Determination of acidic glycosaminoglycans (mucopolysaccharides) in urine by an ion exchange method. Application to "collagenoses", gargoylism, the nail-patella syndrome and Farber's disease. ( 4226725 )
1967
226
Nail-patella syndrome with iliac horns and hereditary nephropathy. Necropsy report and anatomical dissection. ( 6019383 )
1967
227
The nail-patella syndrome. ( 5926437 )
1966
228
The hereditary nephropathy of osteo-onychodysplasia. Nail-patella syndrome. ( 5945537 )
1966
229
Nail-patella syndrome in an Indian family: clinical and linkage data. ( 5970338 )
1966
230
ONYCHO-OSTEODYSPLASI (NAIL-PATELLA SYNDROME) STUDY OF A CHINESE FAMILY WITH THIS CONDITION. ( 14304642 )
1965
231
The nail-patella syndrome. A study of a Caernarvon family. ( 5863840 )
1965
232
NAIL-PATELLA SYNDROME AND PREGNANCY. ( 14218024 )
1964
233
Autosomal linkage in man: the nail-patella syndrome. ( 5889017 )
1964
234
NAIL-PATELLA SYNDROME (ONYCHO-OSTEODYSPLASIA) WITH ASSOCIATED BOWEN'S DISEASE AND PAGET'S DISEASE OF BONE. ( 14068148 )
1963
235
NAIL-PATELLA SYNDROME. ( 14068140 )
1963
236
Nail-patella Syndrome. ( 19994290 )
1963
237
Nail-patella syndrome coupled with blood group B in a New Zealand family. ( 13949059 )
1963
238
The Blood Groups of a Further Family with Nail-Patella Syndrome. ( 17948484 )
1963
239
The nail-patella syndrome: (hereditary onycho-mesodysplasia). ( 13773803 )
1961
240
Data on linkage in man. The nail-patella syndrome, family S. ( 13693880 )
1961
241
Nail-patella syndrome: evidence for modification by alleles at the main locus. ( 13373182 )
1956
242
Nail-patella syndrome: clinical and linkage data on family G. ( 13314404 )
1956

Variations for Nail-Patella Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Nail-Patella Syndrome:

75 (showing 30, show less)
# Symbol AA change Variation ID SNP ID
1 LMX1B p.Cys118Phe VAR_004198 rs121909488
2 LMX1B p.Cys165Trp VAR_004199
3 LMX1B p.Arg223Gln VAR_004200 rs121909491
4 LMX1B p.Ala236Pro VAR_004201
5 LMX1B p.Ser241Pro VAR_004202
6 LMX1B p.Arg249Pro VAR_004203
7 LMX1B p.Ala253Val VAR_004204
8 LMX1B p.Asn269Lys VAR_004205 rs121909486
9 LMX1B p.His77Asn VAR_015190
10 LMX1B p.Leu81Trp VAR_015191
11 LMX1B p.Cys83Phe VAR_015192
12 LMX1B p.Cys83Trp VAR_015193
13 LMX1B p.Cys103Trp VAR_015194
14 LMX1B p.Cys118Tyr VAR_015195
15 LMX1B p.His137Tyr VAR_015196
16 LMX1B p.Cys140Tyr VAR_015197
17 LMX1B p.Trp266Cys VAR_015198
18 LMX1B p.Cys59Arg VAR_015201
19 LMX1B p.Cys59Ser VAR_015202
20 LMX1B p.His77Gln VAR_015203
21 LMX1B p.His77Tyr VAR_015204
22 LMX1B p.Cys80Arg VAR_015205
23 LMX1B p.Cys83Gly VAR_015206
24 LMX1B p.Cys83Tyr VAR_015207
25 LMX1B p.Cys86Arg VAR_015208
26 LMX1B p.Asp106Gly VAR_015209
27 LMX1B p.Cys143Ser VAR_015210
28 LMX1B p.Cys146Phe VAR_015211
29 LMX1B p.Cys146Tyr VAR_015212
30 LMX1B p.Leu252Pro VAR_015213

ClinVar genetic disease variations for Nail-Patella Syndrome:

6
(showing 296, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMX1B NM_002316.3(LMX1B): c.807C> A (p.Asn269Lys) single nucleotide variant Pathogenic rs121909486 GRCh37 Chromosome 9, 129455868: 129455868
2 LMX1B NM_002316.3(LMX1B): c.807C> A (p.Asn269Lys) single nucleotide variant Pathogenic rs121909486 GRCh38 Chromosome 9, 126693589: 126693589
3 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 GRCh37 Chromosome 9, 129455522: 129455522
4 LMX1B NM_002316.3(LMX1B): c.661C> T (p.Arg221Ter) single nucleotide variant Pathogenic rs121909487 GRCh38 Chromosome 9, 126693243: 126693243
5 LMX1B LMX1B, 1-BP INS, 713A insertion Pathogenic
6 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 GRCh37 Chromosome 9, 129453141: 129453141
7 LMX1B NM_002316.3(LMX1B): c.353G> T (p.Cys118Phe) single nucleotide variant Pathogenic rs121909488 GRCh38 Chromosome 9, 126690862: 126690862
8 LMX1B LMX1B, 2-BP DEL, 233TG deletion Pathogenic
9 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 GRCh37 Chromosome 9, 129377766: 129377766
10 LMX1B NM_002316.3(LMX1B): c.244C> T (p.Gln82Ter) single nucleotide variant Pathogenic rs121909489 GRCh38 Chromosome 9, 126615487: 126615487
11 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 GRCh37 Chromosome 9, 129455552: 129455552
12 LMX1B NM_002316.3(LMX1B): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs121909490 GRCh38 Chromosome 9, 126693273: 126693273
13 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 GRCh37 Chromosome 9, 129455529: 129455529
14 LMX1B NM_002316.3(LMX1B): c.668G> A (p.Arg223Gln) single nucleotide variant Pathogenic rs121909491 GRCh38 Chromosome 9, 126693250: 126693250
15 LMX1B LMX1B, 672, G-A, +1 single nucleotide variant Pathogenic
16 LMX1B LMX1B, 672, G-T, +1 single nucleotide variant Pathogenic
17 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 GRCh37 Chromosome 9, 129455806: 129455806
18 LMX1B NM_002316.3(LMX1B): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs121909492 GRCh38 Chromosome 9, 126693527: 126693527
19 LMX1B LMX1B, 17-BP DEL deletion Pathogenic
20 LMX1B LMX1B, DEL deletion Pathogenic
21 LMX1B NM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 GRCh38 Chromosome 9, 126615549: 126615549
22 LMX1B NM_001174146.1(LMX1B): c.306C> G (p.Tyr102Ter) single nucleotide variant Pathogenic rs864621969 GRCh37 Chromosome 9, 129377828: 129377828
23 LMX1B NM_002316.3(LMX1B): c.326+7G> C single nucleotide variant Benign rs1336980 GRCh37 Chromosome 9, 129377855: 129377855
24 LMX1B NM_002316.3(LMX1B): c.326+7G> C single nucleotide variant Benign rs1336980 GRCh38 Chromosome 9, 126615576: 126615576
25 LMX1B NM_002316.3(LMX1B): c.441A> G (p.Glu147=) single nucleotide variant Benign rs2277158 GRCh37 Chromosome 9, 129453229: 129453229
26 LMX1B NM_002316.3(LMX1B): c.441A> G (p.Glu147=) single nucleotide variant Benign rs2277158 GRCh38 Chromosome 9, 126690950: 126690950
27 LMX1B NM_002316.3(LMX1B): c.726G> C (p.Ser242=) single nucleotide variant Benign rs13295990 GRCh37 Chromosome 9, 129455587: 129455587
28 LMX1B NM_002316.3(LMX1B): c.726G> C (p.Ser242=) single nucleotide variant Benign rs13295990 GRCh38 Chromosome 9, 126693308: 126693308
29 LMX1B NM_002316.3(LMX1B): c.930G> A (p.Thr310=) single nucleotide variant Likely benign rs112171815 GRCh37 Chromosome 9, 129458161: 129458161
30 LMX1B NM_002316.3(LMX1B): c.930G> A (p.Thr310=) single nucleotide variant Likely benign rs112171815 GRCh38 Chromosome 9, 126695882: 126695882
31 LMX1B NM_002316.3(LMX1B): c.1086C> T (p.Ser362=) single nucleotide variant Benign rs10115304 GRCh37 Chromosome 9, 129458628: 129458628
32 LMX1B NM_002316.3(LMX1B): c.1086C> T (p.Ser362=) single nucleotide variant Benign rs10115304 GRCh38 Chromosome 9, 126696349: 126696349
33 LMX1B NM_002316.3(LMX1B): c.459C> T (p.Gly153=) single nucleotide variant Uncertain significance rs779330478 GRCh38 Chromosome 9, 126690968: 126690968
34 LMX1B NM_002316.3(LMX1B): c.459C> T (p.Gly153=) single nucleotide variant Uncertain significance rs779330478 GRCh37 Chromosome 9, 129453247: 129453247
35 LMX1B NM_002316.3(LMX1B): c.552C> T (p.Ser184=) single nucleotide variant Likely benign rs142488434 GRCh38 Chromosome 9, 126691061: 126691061
36 LMX1B NM_002316.3(LMX1B): c.552C> T (p.Ser184=) single nucleotide variant Likely benign rs142488434 GRCh37 Chromosome 9, 129453340: 129453340
37 LMX1B NM_002316.3(LMX1B): c.742-7G> C single nucleotide variant Uncertain significance rs534963836 GRCh38 Chromosome 9, 126693517: 126693517
38 LMX1B NM_002316.3(LMX1B): c.628G> A (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh38 Chromosome 9, 126693210: 126693210
39 LMX1B NM_002316.3(LMX1B): c.628G> A (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh37 Chromosome 9, 129455489: 129455489
40 LMX1B NM_002316.3(LMX1B): c.628G> C (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh38 Chromosome 9, 126693210: 126693210
41 LMX1B NM_002316.3(LMX1B): c.628G> C (p.Gly210Arg) single nucleotide variant Uncertain significance rs754095270 GRCh37 Chromosome 9, 129455489: 129455489
42 LMX1B NM_002316.3(LMX1B): c.741+14G> A single nucleotide variant Uncertain significance rs527313096 GRCh38 Chromosome 9, 126693337: 126693337
43 LMX1B NM_002316.3(LMX1B): c.741+14G> A single nucleotide variant Uncertain significance rs527313096 GRCh37 Chromosome 9, 129455616: 129455616
44 LMX1B NM_002316.3(LMX1B): c.742-7G> C single nucleotide variant Uncertain significance rs534963836 GRCh37 Chromosome 9, 129455796: 129455796
45 LMX1B NM_002316.3(LMX1B): c.1131C> T (p.Arg377=) single nucleotide variant Uncertain significance rs146476348 GRCh37 Chromosome 9, 129458673: 129458673
46 LMX1B NM_002316.3(LMX1B): c.1131C> T (p.Arg377=) single nucleotide variant Uncertain significance rs146476348 GRCh38 Chromosome 9, 126696394: 126696394
47 LMX1B NM_002316.3(LMX1B): c.*27G> A single nucleotide variant Benign rs10115373 GRCh37 Chromosome 9, 129458757: 129458757
48 LMX1B NM_002316.3(LMX1B): c.*27G> A single nucleotide variant Benign rs10115373 GRCh38 Chromosome 9, 126696478: 126696478
49 LMX1B NM_002316.3(LMX1B): c.*232C> T single nucleotide variant Uncertain significance rs551852198 GRCh37 Chromosome 9, 129458962: 129458962
50 LMX1B NM_002316.3(LMX1B): c.*232C> T single nucleotide variant Uncertain significance rs551852198 GRCh38 Chromosome 9, 126696683: 126696683
51 LMX1B NM_002316.3(LMX1B): c.*438G> C single nucleotide variant Likely benign rs140325479 GRCh37 Chromosome 9, 129459168: 129459168
52 LMX1B NM_002316.3(LMX1B): c.*438G> C single nucleotide variant Likely benign rs140325479 GRCh38 Chromosome 9, 126696889: 126696889
53 LMX1B NM_002316.3(LMX1B): c.*574C> T single nucleotide variant Uncertain significance rs765510482 GRCh38 Chromosome 9, 126697025: 126697025
54 LMX1B NM_002316.3(LMX1B): c.*574C> T single nucleotide variant Uncertain significance rs765510482 GRCh37 Chromosome 9, 129459304: 129459304
55 LMX1B NM_002316.3(LMX1B): c.*640_*643delCACA deletion Likely benign rs886063424 GRCh37 Chromosome 9, 129459370: 129459373
56 LMX1B NM_002316.3(LMX1B): c.*640_*643delCACA deletion Likely benign rs886063424 GRCh38 Chromosome 9, 126697091: 126697094
57 LMX1B NM_002316.3(LMX1B): c.*932G> T single nucleotide variant Benign rs28687510 GRCh37 Chromosome 9, 129459662: 129459662
58 LMX1B NM_002316.3(LMX1B): c.*932G> T single nucleotide variant Benign rs28687510 GRCh38 Chromosome 9, 126697383: 126697383
59 LMX1B NM_002316.3(LMX1B): c.*1115T> A single nucleotide variant Uncertain significance rs886063425 GRCh37 Chromosome 9, 129459845: 129459845
60 LMX1B NM_002316.3(LMX1B): c.*1115T> A single nucleotide variant Uncertain significance rs886063425 GRCh38 Chromosome 9, 126697566: 126697566
61 LMX1B NM_002316.3(LMX1B): c.*1266T> G single nucleotide variant Uncertain significance rs558658509 GRCh37 Chromosome 9, 129459996: 129459996
62 LMX1B NM_002316.3(LMX1B): c.*1266T> G single nucleotide variant Uncertain significance rs558658509 GRCh38 Chromosome 9, 126697717: 126697717
63 LMX1B NM_002316.3(LMX1B): c.*1304G> A single nucleotide variant Benign rs73596779 GRCh37 Chromosome 9, 129460034: 129460034
64 LMX1B NM_002316.3(LMX1B): c.*1304G> A single nucleotide variant Benign rs73596779 GRCh38 Chromosome 9, 126697755: 126697755
65 LMX1B NM_002316.3(LMX1B): c.*1427_*1441delTGTTTTGTTTTGTTT deletion Uncertain significance rs886063426 GRCh38 Chromosome 9, 126697878: 126697892
66 LMX1B NM_002316.3(LMX1B): c.*1427_*1441delTGTTTTGTTTTGTTT deletion Uncertain significance rs886063426 GRCh37 Chromosome 9, 129460157: 129460171
67 LMX1B NM_002316.3(LMX1B): c.*1437_*1441delTGTTT deletion Uncertain significance rs535437948 GRCh38 Chromosome 9, 126697888: 126697892
68 LMX1B NM_002316.3(LMX1B): c.*1437_*1441delTGTTT deletion Uncertain significance rs535437948 GRCh37 Chromosome 9, 129460167: 129460171
69 LMX1B NM_002316.3(LMX1B): c.*1437_*1441dupTGTTT duplication Uncertain significance rs59836255 GRCh38 Chromosome 9, 126697888: 126697892
70 LMX1B NM_002316.3(LMX1B): c.*1437_*1441dupTGTTT duplication Uncertain significance rs59836255 GRCh37 Chromosome 9, 129460167: 129460171
71 LMX1B NM_002316.3(LMX1B): c.*1473G> A single nucleotide variant Benign rs13299609 GRCh38 Chromosome 9, 126697924: 126697924
72 LMX1B NM_002316.3(LMX1B): c.*1473G> A single nucleotide variant Benign rs13299609 GRCh37 Chromosome 9, 129460203: 129460203
73 LMX1B NM_002316.3(LMX1B): c.*1511G> A single nucleotide variant Uncertain significance rs547510293 GRCh37 Chromosome 9, 129460241: 129460241
74 LMX1B NM_002316.3(LMX1B): c.*1511G> A single nucleotide variant Uncertain significance rs547510293 GRCh38 Chromosome 9, 126697962: 126697962
75 LMX1B NM_002316.3(LMX1B): c.*1666C> T single nucleotide variant Benign rs10987416 GRCh37 Chromosome 9, 129460396: 129460396
76 LMX1B NM_002316.3(LMX1B): c.*1666C> T single nucleotide variant Benign rs10987416 GRCh38 Chromosome 9, 126698117: 126698117
77 LMX1B NM_002316.3(LMX1B): c.*1673C> G single nucleotide variant Likely benign rs191584459 GRCh37 Chromosome 9, 129460403: 129460403
78 LMX1B NM_002316.3(LMX1B): c.*1673C> G single nucleotide variant Likely benign rs191584459 GRCh38 Chromosome 9, 126698124: 126698124
79 LMX1B NM_002316.3(LMX1B): c.*1676G> A single nucleotide variant Uncertain significance rs886063431 GRCh37 Chromosome 9, 129460406: 129460406
80 LMX1B NM_002316.3(LMX1B): c.*1676G> A single nucleotide variant Uncertain significance rs886063431 GRCh38 Chromosome 9, 126698127: 126698127
81 LMX1B NM_002316.3(LMX1B): c.*1713C> T single nucleotide variant Uncertain significance rs886063432 GRCh37 Chromosome 9, 129460443: 129460443
82 LMX1B NM_002316.3(LMX1B): c.*1713C> T single nucleotide variant Uncertain significance rs886063432 GRCh38 Chromosome 9, 126698164: 126698164
83 LMX1B NM_002316.3(LMX1B): c.*1737T> C single nucleotide variant Uncertain significance rs886063433 GRCh37 Chromosome 9, 129460467: 129460467
84 LMX1B NM_002316.3(LMX1B): c.*1737T> C single nucleotide variant Uncertain significance rs886063433 GRCh38 Chromosome 9, 126698188: 126698188
85 LMX1B NM_002316.3(LMX1B): c.*1935G> A single nucleotide variant Uncertain significance rs886063435 GRCh38 Chromosome 9, 126698386: 126698386
86 LMX1B NM_002316.3(LMX1B): c.*1935G> A single nucleotide variant Uncertain significance rs886063435 GRCh37 Chromosome 9, 129460665: 129460665
87 LMX1B NM_002316.3(LMX1B): c.*2345G> A single nucleotide variant Likely benign rs74429080 GRCh37 Chromosome 9, 129461075: 129461075
88 LMX1B NM_002316.3(LMX1B): c.*2345G> A single nucleotide variant Likely benign rs74429080 GRCh38 Chromosome 9, 126698796: 126698796
89 LMX1B NM_002316.3(LMX1B): c.*2831C> T single nucleotide variant Likely benign rs148906444 GRCh37 Chromosome 9, 129461561: 129461561
90 LMX1B NM_002316.3(LMX1B): c.*2831C> T single nucleotide variant Likely benign rs148906444 GRCh38 Chromosome 9, 126699282: 126699282
91 LMX1B NM_002316.3(LMX1B): c.*3021T> G single nucleotide variant Uncertain significance rs886063438 GRCh37 Chromosome 9, 129461751: 129461751
92 LMX1B NM_002316.3(LMX1B): c.*3021T> G single nucleotide variant Uncertain significance rs886063438 GRCh38 Chromosome 9, 126699472: 126699472
93 LMX1B NM_002316.3(LMX1B): c.*3346G> T single nucleotide variant Uncertain significance rs7023938 GRCh38 Chromosome 9, 126699797: 126699797
94 LMX1B NM_002316.3(LMX1B): c.*3346G> T single nucleotide variant Uncertain significance rs7023938 GRCh37 Chromosome 9, 129462076: 129462076
95 LMX1B NM_002316.3(LMX1B): c.*3379C> T single nucleotide variant Uncertain significance rs886063439 GRCh38 Chromosome 9, 126699830: 126699830
96 LMX1B NM_002316.3(LMX1B): c.*3379C> T single nucleotide variant Uncertain significance rs886063439 GRCh37 Chromosome 9, 129462109: 129462109
97 LMX1B NM_002316.3(LMX1B): c.*3731G> C single nucleotide variant Likely benign rs566004764 GRCh37 Chromosome 9, 129462461: 129462461
98 LMX1B NM_002316.3(LMX1B): c.*3731G> C single nucleotide variant Likely benign rs566004764 GRCh38 Chromosome 9, 126700182: 126700182
99 LMX1B NM_002316.3(LMX1B): c.*3765A> C single nucleotide variant Uncertain significance rs886063444 GRCh37 Chromosome 9, 129462495: 129462495
100 LMX1B NM_002316.3(LMX1B): c.*3765A> C single nucleotide variant Uncertain significance rs886063444 GRCh38 Chromosome 9, 126700216: 126700216
101 LMX1B NM_002316.3(LMX1B): c.*4206G> A single nucleotide variant Uncertain significance rs762728003 GRCh37 Chromosome 9, 129462936: 129462936
102 LMX1B NM_002316.3(LMX1B): c.*4206G> A single nucleotide variant Uncertain significance rs762728003 GRCh38 Chromosome 9, 126700657: 126700657
103 LMX1B NM_002316.3(LMX1B): c.*4373A> G single nucleotide variant Likely benign rs78565800 GRCh37 Chromosome 9, 129463103: 129463103
104 LMX1B NM_002316.3(LMX1B): c.*4373A> G single nucleotide variant Likely benign rs78565800 GRCh38 Chromosome 9, 126700824: 126700824
105 LMX1B NM_002316.3(LMX1B): c.*4477C> T single nucleotide variant Uncertain significance rs778454522 GRCh38 Chromosome 9, 126700928: 126700928
106 LMX1B NM_002316.3(LMX1B): c.*4477C> T single nucleotide variant Uncertain significance rs778454522 GRCh37 Chromosome 9, 129463207: 129463207
107 LMX1B NM_002316.3(LMX1B): c.*4568C> T single nucleotide variant Likely benign rs539011309 GRCh37 Chromosome 9, 129463298: 129463298
108 LMX1B NM_002316.3(LMX1B): c.*4568C> T single nucleotide variant Likely benign rs539011309 GRCh38 Chromosome 9, 126701019: 126701019
109 LMX1B NM_002316.3(LMX1B): c.57G> A (p.Thr19=) single nucleotide variant Uncertain significance rs376265443 GRCh37 Chromosome 9, 129376785: 129376785
110 LMX1B NM_002316.3(LMX1B): c.57G> A (p.Thr19=) single nucleotide variant Uncertain significance rs376265443 GRCh38 Chromosome 9, 126614506: 126614506
111 LMX1B NM_002316.3(LMX1B): c.972G> C (p.Gln324His) single nucleotide variant Uncertain significance rs886063418 GRCh37 Chromosome 9, 129458203: 129458203
112 LMX1B NM_002316.3(LMX1B): c.972G> C (p.Gln324His) single nucleotide variant Uncertain significance rs886063418 GRCh38 Chromosome 9, 126695924: 126695924
113 LMX1B NM_002316.3(LMX1B): c.*277C> T single nucleotide variant Uncertain significance rs886063421 GRCh38 Chromosome 9, 126696728: 126696728
114 LMX1B NM_002316.3(LMX1B): c.*173G> A single nucleotide variant Likely benign rs181701033 GRCh37 Chromosome 9, 129458903: 129458903
115 LMX1B NM_002316.3(LMX1B): c.*173G> A single nucleotide variant Likely benign rs181701033 GRCh38 Chromosome 9, 126696624: 126696624
116 LMX1B NM_002316.3(LMX1B): c.*277C> T single nucleotide variant Uncertain significance rs886063421 GRCh37 Chromosome 9, 129459007: 129459007
117 LMX1B NM_002316.3(LMX1B): c.*401G> A single nucleotide variant Uncertain significance rs548738973 GRCh37 Chromosome 9, 129459131: 129459131
118 LMX1B NM_002316.3(LMX1B): c.*401G> A single nucleotide variant Uncertain significance rs548738973 GRCh38 Chromosome 9, 126696852: 126696852
119 LMX1B NM_002316.3(LMX1B): c.*584C> T single nucleotide variant Benign rs34200683 GRCh37 Chromosome 9, 129459314: 129459314
120 LMX1B NM_002316.3(LMX1B): c.*584C> T single nucleotide variant Benign rs34200683 GRCh38 Chromosome 9, 126697035: 126697035
121 LMX1B NM_002316.3(LMX1B): c.*681C> T single nucleotide variant Likely benign rs138360048 GRCh37 Chromosome 9, 129459411: 129459411
122 LMX1B NM_002316.3(LMX1B): c.*681C> T single nucleotide variant Likely benign rs138360048 GRCh38 Chromosome 9, 126697132: 126697132
123 LMX1B NM_002316.3(LMX1B): c.*1389_*1398delTTTTGTTTTGinsGTTTT indel Uncertain significance rs886063427 GRCh38 Chromosome 9, 126697840: 126697849
124 LMX1B NM_002316.3(LMX1B): c.*1389_*1398delTTTTGTTTTGinsGTTTT indel Uncertain significance rs886063427 GRCh37 Chromosome 9, 129460119: 129460128
125 LMX1B NM_002316.3(LMX1B): c.*1531T> G single nucleotide variant Uncertain significance rs886063429 GRCh37 Chromosome 9, 129460261: 129460261
126 LMX1B NM_002316.3(LMX1B): c.*1531T> G single nucleotide variant Uncertain significance rs886063429 GRCh38 Chromosome 9, 126697982: 126697982
127 LMX1B NM_002316.3(LMX1B): c.*1582A> G single nucleotide variant Benign rs10987415 GRCh37 Chromosome 9, 129460312: 129460312
128 LMX1B NM_002316.3(LMX1B): c.*1582A> G single nucleotide variant Benign rs10987415 GRCh38 Chromosome 9, 126698033: 126698033
129 LMX1B NM_002316.3(LMX1B): c.*1604A> G single nucleotide variant Likely benign rs146126278 GRCh37 Chromosome 9, 129460334: 129460334
130 LMX1B NM_002316.3(LMX1B): c.*1604A> G single nucleotide variant Likely benign rs146126278 GRCh38 Chromosome 9, 126698055: 126698055
131 LMX1B NM_002316.3(LMX1B): c.*1612C> T single nucleotide variant Uncertain significance rs767599284 GRCh37 Chromosome 9, 129460342: 129460342
132 LMX1B NM_002316.3(LMX1B): c.*1612C> T single nucleotide variant Uncertain significance rs767599284 GRCh38 Chromosome 9, 126698063: 126698063
133 LMX1B NM_002316.3(LMX1B): c.*1716A> G single nucleotide variant Likely benign rs116411474 GRCh37 Chromosome 9, 129460446: 129460446
134 LMX1B NM_002316.3(LMX1B): c.*1716A> G single nucleotide variant Likely benign rs116411474 GRCh38 Chromosome 9, 126698167: 126698167
135 LMX1B NM_002316.3(LMX1B): c.*1754C> T single nucleotide variant Uncertain significance rs886063434 GRCh37 Chromosome 9, 129460484: 129460484
136 LMX1B NM_002316.3(LMX1B): c.*1754C> T single nucleotide variant Uncertain significance rs886063434 GRCh38 Chromosome 9, 126698205: 126698205
137 LMX1B NM_002316.3(LMX1B): c.*1992T> C single nucleotide variant Benign rs34776870 GRCh37 Chromosome 9, 129460722: 129460722
138 LMX1B NM_002316.3(LMX1B): c.*1992T> C single nucleotide variant Benign rs34776870 GRCh38 Chromosome 9, 126698443: 126698443
139 LMX1B NM_002316.3(LMX1B): c.*2184A> G single nucleotide variant Benign rs10733682 GRCh37 Chromosome 9, 129460914: 129460914
140 LMX1B NM_002316.3(LMX1B): c.*2184A> G single nucleotide variant Benign rs10733682 GRCh38 Chromosome 9, 126698635: 126698635
141 LMX1B NM_002316.3(LMX1B): c.*2394G> C single nucleotide variant Benign rs10760451 GRCh38 Chromosome 9, 126698845: 126698845
142 LMX1B NM_002316.3(LMX1B): c.*2394G> C single nucleotide variant Benign rs10760451 GRCh37 Chromosome 9, 129461124: 129461124
143 LMX1B NM_002316.3(LMX1B): c.*2612T> C single nucleotide variant Uncertain significance rs886063437 GRCh37 Chromosome 9, 129461342: 129461342
144 LMX1B NM_002316.3(LMX1B): c.*2612T> C single nucleotide variant Uncertain significance rs886063437 GRCh38 Chromosome 9, 126699063: 126699063
145 LMX1B NM_002316.3(LMX1B): c.*3385C> A single nucleotide variant Uncertain significance rs886063440 GRCh38 Chromosome 9, 126699836: 126699836
146 LMX1B NM_002316.3(LMX1B): c.*3385C> A single nucleotide variant Uncertain significance rs886063440 GRCh37 Chromosome 9, 129462115: 129462115
147 LMX1B NM_002316.3(LMX1B): c.*3771G> T single nucleotide variant Benign rs10987417 GRCh37 Chromosome 9, 129462501: 129462501
148 LMX1B NM_002316.3(LMX1B): c.*3771G> T single nucleotide variant Benign rs10987417 GRCh38 Chromosome 9, 126700222: 126700222
149 LMX1B NM_002316.3(LMX1B): c.*3833A> G single nucleotide variant Benign rs10987418 GRCh37 Chromosome 9, 129462563: 129462563
150 LMX1B NM_002316.3(LMX1B): c.*3833A> G single nucleotide variant Benign rs10987418 GRCh38 Chromosome 9, 126700284: 126700284
151 LMX1B NM_002316.3(LMX1B): c.*3891G> A single nucleotide variant Likely benign rs534775990 GRCh37 Chromosome 9, 129462621: 129462621
152 LMX1B NM_002316.3(LMX1B): c.*3891G> A single nucleotide variant Likely benign rs534775990 GRCh38 Chromosome 9, 126700342: 126700342
153 LMX1B NM_002316.3(LMX1B): c.*3908T> C single nucleotide variant Uncertain significance rs886063446 GRCh38 Chromosome 9, 126700359: 126700359
154 LMX1B NM_002316.3(LMX1B): c.*3908T> C single nucleotide variant Uncertain significance rs886063446 GRCh37 Chromosome 9, 129462638: 129462638
155 LMX1B NM_002316.3(LMX1B): c.*4303T> C single nucleotide variant Uncertain significance rs545179114 GRCh37 Chromosome 9, 129463033: 129463033
156 LMX1B NM_002316.3(LMX1B): c.*4303T> C single nucleotide variant Uncertain significance rs545179114 GRCh38 Chromosome 9, 126700754: 126700754
157 LMX1B NM_002316.3(LMX1B): c.647C> T (p.Pro216Leu) single nucleotide variant Uncertain significance rs779417752 GRCh38 Chromosome 9, 126693229: 126693229
158 LMX1B NM_002316.3(LMX1B): c.647C> T (p.Pro216Leu) single nucleotide variant Uncertain significance rs779417752 GRCh37 Chromosome 9, 129455508: 129455508
159 LMX1B NM_002316.3(LMX1B): c.1031-5C> A single nucleotide variant Uncertain significance rs886063419 GRCh37 Chromosome 9, 129458568: 129458568
160 LMX1B NM_002316.3(LMX1B): c.1031-5C> A single nucleotide variant Uncertain significance rs886063419 GRCh38 Chromosome 9, 126696289: 126696289
161 LMX1B NM_002316.3(LMX1B): c.*38G> A single nucleotide variant Likely benign rs201442685 GRCh37 Chromosome 9, 129458768: 129458768
162 LMX1B NM_002316.3(LMX1B): c.*38G> A single nucleotide variant Likely benign rs201442685 GRCh38 Chromosome 9, 126696489: 126696489
163 LMX1B NM_002316.3(LMX1B): c.*127C> T single nucleotide variant Likely benign rs113846301 GRCh37 Chromosome 9, 129458857: 129458857
164 LMX1B NM_002316.3(LMX1B): c.*127C> T single nucleotide variant Likely benign rs113846301 GRCh38 Chromosome 9, 126696578: 126696578
165 LMX1B NM_002316.3(LMX1B): c.*172C> A single nucleotide variant Likely benign rs574095852 GRCh37 Chromosome 9, 129458902: 129458902
166 LMX1B NM_002316.3(LMX1B): c.*172C> A single nucleotide variant Likely benign rs574095852 GRCh38 Chromosome 9, 126696623: 126696623
167 LMX1B NM_002316.3(LMX1B): c.*451C> T single nucleotide variant Benign rs71497630 GRCh37 Chromosome 9, 129459181: 129459181
168 LMX1B NM_002316.3(LMX1B): c.*451C> T single nucleotide variant Benign rs71497630 GRCh38 Chromosome 9, 126696902: 126696902
169 LMX1B NM_002316.3(LMX1B): c.*515A> G single nucleotide variant Likely benign rs112375232 GRCh37 Chromosome 9, 129459245: 129459245
170 LMX1B NM_002316.3(LMX1B): c.*515A> G single nucleotide variant Likely benign rs112375232 GRCh38 Chromosome 9, 126696966: 126696966
171 LMX1B NM_002316.3(LMX1B): c.*547C> T single nucleotide variant Uncertain significance rs886063423 GRCh37 Chromosome 9, 129459277: 129459277
172 LMX1B NM_002316.3(LMX1B): c.*547C> T single nucleotide variant Uncertain significance rs886063423 GRCh38 Chromosome 9, 126696998: 126696998
173 LMX1B NM_002316.3(LMX1B): c.*708G> A single nucleotide variant Benign rs10987413 GRCh37 Chromosome 9, 129459438: 129459438
174 LMX1B NM_002316.3(LMX1B): c.*708G> A single nucleotide variant Benign rs10987413 GRCh38 Chromosome 9, 126697159: 126697159
175 LMX1B NM_002316.3(LMX1B): c.*898C> T single nucleotide variant Benign rs10760450 GRCh37 Chromosome 9, 129459628: 129459628
176 LMX1B NM_002316.3(LMX1B): c.*898C> T single nucleotide variant Benign rs10760450 GRCh38 Chromosome 9, 126697349: 126697349
177 LMX1B NM_002316.3(LMX1B): c.*1106_*1107delTT deletion Likely benign rs201556524 GRCh37 Chromosome 9, 129459836: 129459837
178 LMX1B NM_002316.3(LMX1B): c.*1106_*1107delTT deletion Likely benign rs201556524 GRCh38 Chromosome 9, 126697557: 126697558
179 LMX1B NM_002316.3(LMX1B): c.*1255A> G single nucleotide variant Benign rs16929236 GRCh37 Chromosome 9, 129459985: 129459985
180 LMX1B NM_002316.3(LMX1B): c.*1255A> G single nucleotide variant Benign rs16929236 GRCh38 Chromosome 9, 126697706: 126697706
181 LMX1B NM_001174146.1(LMX1B): c.*1389_*1408del20insGTTTT indel Uncertain significance rs886063428 GRCh38 Chromosome 9, 126697840: 126697859
182 LMX1B NM_001174146.1(LMX1B): c.*1389_*1408del20insGTTTT indel Uncertain significance rs886063428 GRCh37 Chromosome 9, 129460119: 129460138
183 LMX1B NM_002316.3(LMX1B): c.*1538C> G single nucleotide variant Likely benign rs144857145 GRCh37 Chromosome 9, 129460268: 129460268
184 LMX1B NM_002316.3(LMX1B): c.*1538C> G single nucleotide variant Likely benign rs144857145 GRCh38 Chromosome 9, 126697989: 126697989
185 LMX1B NM_002316.3(LMX1B): c.*1542A> G single nucleotide variant Uncertain significance rs886063430 GRCh37 Chromosome 9, 129460272: 129460272
186 LMX1B NM_002316.3(LMX1B): c.*1542A> G single nucleotide variant Uncertain significance rs886063430 GRCh38 Chromosome 9, 126697993: 126697993
187 LMX1B NM_002316.3(LMX1B): c.*1995C> G single nucleotide variant Likely benign rs74498940 GRCh37 Chromosome 9, 129460725: 129460725
188 LMX1B NM_002316.3(LMX1B): c.*1995C> G single nucleotide variant Likely benign rs74498940 GRCh38 Chromosome 9, 126698446: 126698446
189 LMX1B NM_002316.3(LMX1B): c.*2393T> C single nucleotide variant Benign rs10120414 GRCh37 Chromosome 9, 129461123: 129461123
190 LMX1B NM_002316.3(LMX1B): c.*2393T> C single nucleotide variant Benign rs10120414 GRCh38 Chromosome 9, 126698844: 126698844
191 LMX1B NM_002316.3(LMX1B): c.*2459_*2461delCTT deletion Uncertain significance rs886063436 GRCh37 Chromosome 9, 129461189: 129461191
192 LMX1B NM_002316.3(LMX1B): c.*2459_*2461delCTT deletion Uncertain significance rs886063436 GRCh38 Chromosome 9, 126698910: 126698912
193 LMX1B NM_002316.3(LMX1B): c.*3098A> G single nucleotide variant Uncertain significance rs749654121 GRCh37 Chromosome 9, 129461828: 129461828
194 LMX1B NM_002316.3(LMX1B): c.*3098A> G single nucleotide variant Uncertain significance rs749654121 GRCh38 Chromosome 9, 126699549: 126699549
195 LMX1B NM_002316.3(LMX1B): c.*3642G> T single nucleotide variant Uncertain significance rs886063443 GRCh37 Chromosome 9, 129462372: 129462372
196 LMX1B NM_002316.3(LMX1B): c.*3642G> T single nucleotide variant Uncertain significance rs886063443 GRCh38 Chromosome 9, 126700093: 126700093
197 LMX1B NM_002316.3(LMX1B): c.*3716C> G single nucleotide variant Likely benign rs147614955 GRCh37 Chromosome 9, 129462446: 129462446
198 LMX1B NM_002316.3(LMX1B): c.*3716C> G single nucleotide variant Likely benign rs147614955 GRCh38 Chromosome 9, 126700167: 126700167
199 LMX1B NM_002316.3(LMX1B): c.*3805G> A single nucleotide variant Uncertain significance rs886063445 GRCh37 Chromosome 9, 129462535: 129462535
200 LMX1B NM_002316.3(LMX1B): c.*3805G> A single nucleotide variant Uncertain significance rs886063445 GRCh38 Chromosome 9, 126700256: 126700256
201 LMX1B NM_002316.3(LMX1B): c.*3864T> C single nucleotide variant Benign rs10987419 GRCh37 Chromosome 9, 129462594: 129462594
202 LMX1B NM_002316.3(LMX1B): c.*3864T> C single nucleotide variant Benign rs10987419 GRCh38 Chromosome 9, 126700315: 126700315
203 LMX1B NM_002316.3(LMX1B): c.*3957C> A single nucleotide variant Benign rs10987422 GRCh37 Chromosome 9, 129462687: 129462687
204 LMX1B NM_002316.3(LMX1B): c.*3957C> A single nucleotide variant Benign rs10987422 GRCh38 Chromosome 9, 126700408: 126700408
205 LMX1B NM_002316.3(LMX1B): c.*4012C> T single nucleotide variant Likely benign rs576424682 GRCh37 Chromosome 9, 129462742: 129462742
206 LMX1B NM_002316.3(LMX1B): c.*4012C> T single nucleotide variant Likely benign rs576424682 GRCh38 Chromosome 9, 126700463: 126700463
207 LMX1B NM_002316.3(LMX1B): c.*4128G> A single nucleotide variant Uncertain significance rs886063447 GRCh37 Chromosome 9, 129462858: 129462858
208 LMX1B NM_002316.3(LMX1B): c.*4128G> A single nucleotide variant Uncertain significance rs886063447 GRCh38 Chromosome 9, 126700579: 126700579
209 LMX1B NM_002316.3(LMX1B): c.*4288G> A single nucleotide variant Likely benign rs150407176 GRCh37 Chromosome 9, 129463018: 129463018
210 LMX1B NM_002316.3(LMX1B): c.*4288G> A single nucleotide variant Likely benign rs150407176 GRCh38 Chromosome 9, 126700739: 126700739
211 LMX1B NM_002316.3(LMX1B): c.*4303T> G single nucleotide variant Uncertain significance rs545179114 GRCh37 Chromosome 9, 129463033: 129463033
212 LMX1B NM_002316.3(LMX1B): c.*4303T> G single nucleotide variant Uncertain significance rs545179114 GRCh38 Chromosome 9, 126700754: 126700754
213 LMX1B NM_002316.3(LMX1B): c.*4570A> G single nucleotide variant Uncertain significance rs886063449 GRCh37 Chromosome 9, 129463300: 129463300
214 LMX1B NM_002316.3(LMX1B): c.*4570A> G single nucleotide variant Uncertain significance rs886063449 GRCh38 Chromosome 9, 126701021: 126701021
215 LMX1B NM_002316.3(LMX1B): c.19C> G (p.Pro7Ala) single nucleotide variant Uncertain significance rs767281663 GRCh37 Chromosome 9, 129376747: 129376747
216 LMX1B NM_002316.3(LMX1B): c.19C> G (p.Pro7Ala) single nucleotide variant Uncertain significance rs767281663 GRCh38 Chromosome 9, 126614468: 126614468
217 LMX1B NM_002316.3(LMX1B): c.381C> T (p.Phe127=) single nucleotide variant Uncertain significance rs540034621 GRCh37 Chromosome 9, 129453169: 129453169
218 LMX1B NM_002316.3(LMX1B): c.381C> T (p.Phe127=) single nucleotide variant Uncertain significance rs540034621 GRCh38 Chromosome 9, 126690890: 126690890
219 LMX1B NM_002316.3(LMX1B): c.742-15C> G single nucleotide variant Uncertain significance rs566334716 GRCh38 Chromosome 9, 126693509: 126693509
220 LMX1B NM_002316.3(LMX1B): c.742-15C> G single nucleotide variant Uncertain significance rs566334716 GRCh37 Chromosome 9, 129455788: 129455788
221 LMX1B NM_002316.3(LMX1B): c.742-6A> T single nucleotide variant Uncertain significance rs554576629 GRCh37 Chromosome 9, 129455797: 129455797
222 LMX1B NM_002316.3(LMX1B): c.742-6A> T single nucleotide variant Uncertain significance rs554576629 GRCh38 Chromosome 9, 126693518: 126693518
223 LMX1B NM_002316.3(LMX1B): c.*51A> G single nucleotide variant Benign rs10121481 GRCh37 Chromosome 9, 129458781: 129458781
224 LMX1B NM_002316.3(LMX1B): c.*51A> G single nucleotide variant Benign rs10121481 GRCh38 Chromosome 9, 126696502: 126696502
225 LMX1B NM_002316.3(LMX1B): c.*59C> T single nucleotide variant Uncertain significance rs886063420 GRCh37 Chromosome 9, 129458789: 129458789
226 LMX1B NM_002316.3(LMX1B): c.*59C> T single nucleotide variant Uncertain significance rs886063420 GRCh38 Chromosome 9, 126696510: 126696510
227 LMX1B NM_002316.3(LMX1B): c.*79G> A single nucleotide variant Benign rs10115393 GRCh37 Chromosome 9, 129458809: 129458809
228 LMX1B NM_002316.3(LMX1B): c.*79G> A single nucleotide variant Benign rs10115393 GRCh38 Chromosome 9, 126696530: 126696530
229 LMX1B NM_002316.3(LMX1B): c.*230C> T single nucleotide variant Uncertain significance rs531744651 GRCh37 Chromosome 9, 129458960: 129458960
230 LMX1B NM_002316.3(LMX1B): c.*230C> T single nucleotide variant Uncertain significance rs531744651 GRCh38 Chromosome 9, 126696681: 126696681
231 LMX1B NM_002316.3(LMX1B): c.*280G> A single nucleotide variant Likely benign rs111648919 GRCh37 Chromosome 9, 129459010: 129459010
232 LMX1B NM_002316.3(LMX1B): c.*280G> A single nucleotide variant Likely benign rs111648919 GRCh38 Chromosome 9, 126696731: 126696731
233 LMX1B NM_002316.3(LMX1B): c.*355G> T single nucleotide variant Uncertain significance rs886063422 GRCh37 Chromosome 9, 129459085: 129459085
234 LMX1B NM_002316.3(LMX1B): c.*355G> T single nucleotide variant Uncertain significance rs886063422 GRCh38 Chromosome 9, 126696806: 126696806
235 LMX1B NM_002316.3(LMX1B): c.*748C> T single nucleotide variant Benign rs10987414 GRCh37 Chromosome 9, 129459478: 129459478
236 LMX1B NM_002316.3(LMX1B): c.*748C> T single nucleotide variant Benign rs10987414 GRCh38 Chromosome 9, 126697199: 126697199
237 LMX1B NM_002316.3(LMX1B): c.*1063T> A single nucleotide variant Likely benign rs551202501 GRCh37 Chromosome 9, 129459793: 129459793
238 LMX1B NM_002316.3(LMX1B): c.*1063T> A single nucleotide variant Likely benign rs551202501 GRCh38 Chromosome 9, 126697514: 126697514
239 LMX1B NM_002316.3(LMX1B): c.*1389T> G single nucleotide variant Benign rs13300385 GRCh37 Chromosome 9, 129460119: 129460119
240 LMX1B NM_002316.3(LMX1B): c.*1389T> G single nucleotide variant Benign rs13300385 GRCh38 Chromosome 9, 126697840: 126697840
241 LMX1B NM_002316.3(LMX1B): c.*1393G> T single nucleotide variant Benign rs13299451 GRCh38 Chromosome 9, 126697844: 126697844
242 LMX1B NM_002316.3(LMX1B): c.*1393G> T single nucleotide variant Benign rs13299451 GRCh37 Chromosome 9, 129460123: 129460123
243 LMX1B NM_002316.3(LMX1B): c.*1574G> T single nucleotide variant Likely benign rs148173186 GRCh37 Chromosome 9, 129460304: 129460304
244 LMX1B NM_002316.3(LMX1B): c.*1574G> T single nucleotide variant Likely benign rs148173186 GRCh38 Chromosome 9, 126698025: 126698025
245 LMX1B NM_002316.3(LMX1B): c.*1644C> G single nucleotide variant Likely benign rs187256465 GRCh37 Chromosome 9, 129460374: 129460374
246 LMX1B NM_002316.3(LMX1B): c.*1644C> G single nucleotide variant Likely benign rs187256465 GRCh38 Chromosome 9, 126698095: 126698095
247 LMX1B NM_002316.3(LMX1B): c.*1997G> A single nucleotide variant Benign rs35632228 GRCh37 Chromosome 9, 129460727: 129460727
248 LMX1B NM_002316.3(LMX1B): c.*1997G> A single nucleotide variant Benign rs35632228 GRCh38 Chromosome 9, 126698448: 126698448
249 LMX1B NM_002316.3(LMX1B): c.*2023C> T single nucleotide variant Likely benign rs574903734 GRCh37 Chromosome 9, 129460753: 129460753
250 LMX1B NM_002316.3(LMX1B): c.*2023C> T single nucleotide variant Likely benign rs574903734 GRCh38 Chromosome 9, 126698474: 126698474
251 LMX1B NM_002316.3(LMX1B): c.*2160C> T single nucleotide variant Likely benign rs145937520 GRCh37 Chromosome 9, 129460890: 129460890
252 LMX1B NM_002316.3(LMX1B): c.*2160C> T single nucleotide variant Likely benign rs145937520 GRCh38 Chromosome 9, 126698611: 126698611
253 LMX1B NM_002316.3(LMX1B): c.*2590_*2591delTT deletion Benign rs560251761 GRCh37 Chromosome 9, 129461320: 129461321
254 LMX1B NM_002316.3(LMX1B): c.*2590_*2591delTT deletion Benign rs560251761 GRCh38 Chromosome 9, 126699041: 126699042
255 LMX1B NM_002316.3(LMX1B): c.*2966G> A single nucleotide variant Likely benign rs191951894 GRCh37 Chromosome 9, 129461696: 129461696
256 LMX1B NM_002316.3(LMX1B): c.*2966G> A single nucleotide variant Likely benign rs191951894 GRCh38 Chromosome 9, 126699417: 126699417
257 LMX1B NM_002316.3(LMX1B): c.*2984C> T single nucleotide variant Benign rs4083644 GRCh37 Chromosome 9, 129461714: 129461714
258 LMX1B NM_002316.3(LMX1B): c.*2984C> T single nucleotide variant Benign rs4083644 GRCh38 Chromosome 9, 126699435: 126699435
259 LMX1B NM_002316.3(LMX1B): c.*3182A> G single nucleotide variant Benign rs3861878 GRCh37 Chromosome 9, 129461912: 129461912
260 LMX1B NM_002316.3(LMX1B): c.*3182A> G single nucleotide variant Benign rs3861878 GRCh38 Chromosome 9, 126699633: 126699633
261 LMX1B NM_002316.3(LMX1B): c.*3274T> G single nucleotide variant Uncertain significance rs539927124 GRCh37 Chromosome 9, 129462004: 129462004
262 LMX1B NM_002316.3(LMX1B): c.*3274T> G single nucleotide variant Uncertain significance rs539927124 GRCh38 Chromosome 9, 126699725: 126699725
263 LMX1B NM_002316.3(LMX1B): c.*3338C> G single nucleotide variant Likely benign rs565879113 GRCh37 Chromosome 9, 129462068: 129462068
264 LMX1B NM_002316.3(LMX1B): c.*3338C> G single nucleotide variant Likely benign rs565879113 GRCh38 Chromosome 9, 126699789: 126699789
265 LMX1B NM_002316.3(LMX1B): c.*3881G> T single nucleotide variant Benign rs10987421 GRCh37 Chromosome 9, 129462611: 129462611
266 LMX1B NM_002316.3(LMX1B): c.*3342T> C single nucleotide variant Benign rs4083645 GRCh38 Chromosome 9, 126699793: 126699793
267 LMX1B NM_002316.3(LMX1B): c.*3342T> C single nucleotide variant Benign rs4083645 GRCh37 Chromosome 9, 129462072: 129462072
268 LMX1B NM_002316.3(LMX1B): c.*3346G> A single nucleotide variant Benign rs7023938 GRCh38 Chromosome 9, 126699797: 126699797
269 LMX1B NM_002316.3(LMX1B): c.*3346G> A single nucleotide variant Benign rs7023938 GRCh37 Chromosome 9, 129462076: 129462076
270 LMX1B NM_002316.3(LMX1B): c.*3400G> A single nucleotide variant Uncertain significance rs886063441 GRCh38 Chromosome 9, 126699851: 126699851
271 LMX1B NM_002316.3(LMX1B): c.*3400G> A single nucleotide variant Uncertain significance rs886063441 GRCh37 Chromosome 9, 129462130: 129462130
272 LMX1B NM_002316.3(LMX1B): c.*3404G> A single nucleotide variant Uncertain significance rs754688626 GRCh38 Chromosome 9, 126699855: 126699855
273 LMX1B NM_002316.3(LMX1B): c.*3404G> A single nucleotide variant Uncertain significance rs754688626 GRCh37 Chromosome 9, 129462134: 129462134
274 LMX1B NM_002316.3(LMX1B): c.*3522G> A single nucleotide variant Uncertain significance rs886063442 GRCh38 Chromosome 9, 126699973: 126699973
275 LMX1B NM_002316.3(LMX1B): c.*3522G> A single nucleotide variant Uncertain significance rs886063442 GRCh37 Chromosome 9, 129462252: 129462252
276 LMX1B NM_002316.3(LMX1B): c.*3804C> T single nucleotide variant Likely benign rs558013035 GRCh37 Chromosome 9, 129462534: 129462534
277 LMX1B NM_002316.3(LMX1B): c.*3804C> T single nucleotide variant Likely benign rs558013035 GRCh38 Chromosome 9, 126700255: 126700255
278 LMX1B NM_002316.3(LMX1B): c.*3881G> T single nucleotide variant Benign rs10987421 GRCh38 Chromosome 9, 126700332: 126700332
279 LMX1B NM_002316.3(LMX1B): c.*4127C> T single nucleotide variant Likely benign rs146636393 GRCh38 Chromosome 9, 126700578: 126700578
280 LMX1B NM_002316.3(LMX1B): c.*4127C> T single nucleotide variant Likely benign rs146636393 GRCh37 Chromosome 9, 129462857: 129462857
281 LMX1B NM_002316.3(LMX1B): c.*4157C> T single nucleotide variant Uncertain significance rs185290341 GRCh37 Chromosome 9, 129462887: 129462887
282 LMX1B NM_002316.3(LMX1B): c.*4157C> T single nucleotide variant Uncertain significance rs185290341 GRCh38 Chromosome 9, 126700608: 126700608
283 LMX1B NM_002316.3(LMX1B): c.*4171T> C single nucleotide variant Benign rs3814119 GRCh37 Chromosome 9, 129462901: 129462901
284 LMX1B NM_002316.3(LMX1B): c.*4171T> C single nucleotide variant Benign rs3814119 GRCh38 Chromosome 9, 126700622: 126700622
285 LMX1B NM_002316.3(LMX1B): c.*4331T> C single nucleotide variant Uncertain significance rs886063448 GRCh38 Chromosome 9, 126700782: 126700782
286 LMX1B NM_002316.3(LMX1B): c.*4331T> C single nucleotide variant Uncertain significance rs886063448 GRCh37 Chromosome 9, 129463061: 129463061
287 LMX1B NM_002316.3(LMX1B): c.192dupC (p.Asp65Argfs) duplication Likely pathogenic rs1057516196 GRCh38 Chromosome 9, 126615435: 126615435
288 LMX1B NM_002316.3(LMX1B): c.192dupC (p.Asp65Argfs) duplication Likely pathogenic rs1057516196 GRCh37 Chromosome 9, 129377714: 129377714
289 LMX1B NM_002316.3(LMX1B): c.139+5G> C single nucleotide variant Uncertain significance rs1114167421 GRCh37 Chromosome 9, 129376872: 129376872
290 LMX1B NM_002316.3(LMX1B): c.139+5G> C single nucleotide variant Uncertain significance rs1114167421 GRCh38 Chromosome 9, 126614593: 126614593
291 LMX1B NM_002316.3(LMX1B): c.543delC (p.Asp182Thrfs) deletion Pathogenic rs1114167362 GRCh37 Chromosome 9, 129453331: 129453331
292 LMX1B NM_002316.3(LMX1B): c.543delC (p.Asp182Thrfs) deletion Pathogenic rs1114167362 GRCh38 Chromosome 9, 126691052: 126691052
293 LMX1B NM_002316.3(LMX1B): c.176G> T (p.Cys59Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 129377698: 129377698
294 LMX1B NM_002316.3(LMX1B): c.176G> T (p.Cys59Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 126615419: 126615419
295 LMX1B NM_002316.3(LMX1B): c.741+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 9, 129455603: 129455603
296 LMX1B NM_002316.3(LMX1B): c.741+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 9, 126693324: 126693324

Expression for Nail-Patella Syndrome

Search GEO for disease gene expression data for Nail-Patella Syndrome.

Pathways for Nail-Patella Syndrome

Pathways related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1 10.89 CD2AP COL4A4 LMX1B NPHS2 PAX2
2 10.37 CD2AP NPHS2

GO Terms for Nail-Patella Syndrome

Cellular components related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 collagen trimer GO:0005581 8.96 COL4A4 COL5A1
2 basement membrane GO:0005604 8.62 COL4A4 COL5A1

Biological processes related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 collagen catabolic process GO:0030574 8.62 COL4A4 COL5A1

Molecular functions related to Nail-Patella Syndrome according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL4A4 COL5A1

Sources for Nail-Patella Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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