MCID: EPL131
MIFTS: 37

Epilepsy, Pyridoxine-Dependent

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Epilepsy, Pyridoxine-Dependent

MalaCards integrated aliases for Epilepsy, Pyridoxine-Dependent:

Name: Epilepsy, Pyridoxine-Dependent 57 25 13 40 73
Pyridoxine-Dependent Epilepsy 57 24 53 25 59 75 37 29 6
Vitamin B6-Dependent Seizures 24 53 25 59
Pyridoxine Dependency with Seizures 57 53 25
Pyridoxine Dependency 24 53 25
Pde 57 25 75
Aasa Dehydrogenase Deficiency 57 25
Pyridoxine-Dependent Seizures 24 25
Antiquitin Deficiency 53 59
Epd 57 25
Pyridoxine-Dependent Epilepsy; Pde 57

Characteristics:

Orphanet epidemiological data:

59
pyridoxine-dependent epilepsy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Infancy,Neonatal; Age of death: any age,normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
prenatal or neonatal onset
seizures are responsive to pyridoxine treatment
incidence of 1 in 276,000 in the netherlands


HPO:

32
epilepsy, pyridoxine-dependent:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 266100
Orphanet 59 ORPHA3006
MESH via Orphanet 45 C536254
ICD10 via Orphanet 34 G40.8
UMLS via Orphanet 74 C1291560 C1849508
MedGen 42 C1849508
KEGG 37 H01247
UMLS 73 C1849508

Summaries for Epilepsy, Pyridoxine-Dependent

NIH Rare Diseases : 53 Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy. This gene is inherited in an autosomal recessive fashion.

MalaCards based summary : Epilepsy, Pyridoxine-Dependent, also known as pyridoxine-dependent epilepsy, is related to epilepsy and cystathioninuria, and has symptoms including seizures and myoclonic seizures. An important gene associated with Epilepsy, Pyridoxine-Dependent is ALDH7A1 (Aldehyde Dehydrogenase 7 Family Member A1), and among its related pathways/superpathways is Lysine degradation. Related phenotypes are intellectual disability and muscular hypotonia

Genetics Home Reference : 25 Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.

OMIM : 57 Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005). (266100)

UniProtKB/Swiss-Prot : 75 Pyridoxine-dependent epilepsy: Characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.

Wikipedia : 76 Pyridoxine-dependent epilepsy (PDE), also referred to as pyridoxine-dependent seizure (PDS) or vitamin... more...

GeneReviews: NBK1486

Related Diseases for Epilepsy, Pyridoxine-Dependent

Diseases related to Epilepsy, Pyridoxine-Dependent via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 24, show less)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.5 ALDH7A1 PLPBP
2 cystathioninuria 10.9
3 microcephaly 10.1
4 anxiety 10.0
5 depression 10.0
6 hypophosphatasia 9.9
7 folinic acid-responsive seizures 9.9
8 ovarian cancer 9.9
9 postpartum depression 9.9
10 leukemia, chronic lymphocytic 2 9.9
11 leukemia, chronic lymphocytic 9.9
12 leukemia 9.9
13 retinitis 9.9
14 retinal degeneration 9.9
15 leukemia, b-cell, chronic 9.9
16 breast cancer 9.7
17 schizophrenia 9.7
18 lung cancer 9.7
19 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.7
20 neuroblastoma 9.7
21 muscular dystrophy, becker type 9.7
22 asthma 9.7
23 vascular dementia 9.7
24 muscular dystrophy 9.7

Graphical network of the top 20 diseases related to Epilepsy, Pyridoxine-Dependent:



Diseases related to Epilepsy, Pyridoxine-Dependent

Symptoms & Phenotypes for Epilepsy, Pyridoxine-Dependent

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
status epilepticus
hypotonia
mental retardation
speech delay
more
Respiratory:
respiratory distress, neonatal

Laboratory Abnormalities:
increased serum and cerebrospinal fluid levels of pipecolic acid
increased serum, cerebrospinal fluid, and urinary levels of alpha-aminoadipic semialdehyde

Prenatal Manifestations:
fetal distress

Prenatal Manifestations Movement:
abnormal intrauterine movements


Clinical features from OMIM:

266100

Human phenotypes related to Epilepsy, Pyridoxine-Dependent:

59 32 (showing 21, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
3 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
4 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
7 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939
8 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
9 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
10 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
11 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
12 status epilepticus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002133
13 seizures 59 Very frequent (99-80%)
14 delayed speech and language development 32 HP:0000750
15 generalized myoclonic seizures 32 HP:0002123
16 respiratory distress 32 HP:0002098
17 generalized tonic-clonic seizures 32 HP:0002069
18 prenatal movement abnormality 32 HP:0001557
19 neonatal respiratory distress 32 HP:0002643
20 generalized hypotonia 32 HP:0001290
21 fetal distress 32 HP:0025116

UMLS symptoms related to Epilepsy, Pyridoxine-Dependent:


seizures, myoclonic seizures

Drugs & Therapeutics for Epilepsy, Pyridoxine-Dependent

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine Dependent Epilepsy Patients Withdrawn NCT01795170 Pyridoxine

Search NIH Clinical Center for Epilepsy, Pyridoxine-Dependent

Genetic Tests for Epilepsy, Pyridoxine-Dependent

Genetic tests related to Epilepsy, Pyridoxine-Dependent:

# Genetic test Affiliating Genes
1 Pyridoxine-Dependent Epilepsy 29 ALDH7A1

Anatomical Context for Epilepsy, Pyridoxine-Dependent

Publications for Epilepsy, Pyridoxine-Dependent

Articles related to Epilepsy, Pyridoxine-Dependent:

(showing 72, show less)
# Title Authors Year
1
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. ( 27856333 )
2017
2
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child. ( 28131559 )
2017
3
Obstructive Hydrocephalus in Pyridoxine-Dependent Epilepsy: An Uncommon Complication. ( 28216032 )
2017
4
Pyridoxine-dependent epilepsy: report on three families with neuropathology. ( 27438048 )
2016
5
Current treatment and management of pyridoxine-dependent epilepsy. ( 25639976 )
2015
6
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene. ( 26232297 )
2015
7
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients. ( 26555630 )
2015
8
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature. ( 27186704 )
2015
9
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. ( 26224730 )
2015
10
Seizure recurrence following pyridoxine withdrawal in a patient with pyridoxine-dependent epilepsy. ( 25123644 )
2014
11
Overexpression of recombinant human antiquitin in E. coli: partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. ( 24613284 )
2014
12
Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants. ( 24664145 )
2014
13
Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations: Normal Neurocognitive Outcome. ( 24789515 )
2014
14
Callosal alterations in pyridoxine-dependent epilepsy. ( 24942048 )
2014
15
Corpus callosum alterations in pyridoxine-dependent epilepsy: a mirror image of an ongoing disease? ( 24948334 )
2014
16
Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient. ( 24664088 )
2014
17
Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: l-arginine supplementation alternative to lysine-restricted diet. ( 25127453 )
2014
18
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. ( 24748525 )
2014
19
Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation. ( 23916709 )
2013
20
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. ( 23953072 )
2013
21
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. ( 23430810 )
2013
22
Congenital cataract in a child with pyridoxine-dependent epilepsy. ( 23602455 )
2013
23
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. ( 23376216 )
2013
24
Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations. ( 23683770 )
2013
25
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. ( 23350806 )
2013
26
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene. ( 23925287 )
2013
27
Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy. ( 24122892 )
2013
28
Pyridoxine-dependent Epilepsy: An Often Unrecognized but Treatable cause of Intractable Seizures:Case report from Korle Bu Teaching Hospital, Accra, Ghana. ( 24122693 )
2013
29
Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome. ( 24184718 )
2013
30
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy. ( 23054014 )
2013
31
Variability of phenotype in two sisters with pyridoxine dependent epilepsy. ( 22728861 )
2012
32
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. ( 23022070 )
2012
33
Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1. ( 22305855 )
2012
34
Natural history of pyridoxine-dependent epilepsy: tools for prognostication. ( 22803601 )
2012
35
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. ( 22371912 )
2012
36
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. ( 23166088 )
2012
37
Pyridoxine dependent epilepsy: enduring mystery and continuing challenges. ( 22728846 )
2012
38
Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures. ( 21496129 )
2012
39
Pyridoxine-dependent epilepsy with elevated urinary I+-amino adipic semialdehyde in molybdenum cofactor deficiency. ( 23147983 )
2012
40
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. ( 22784480 )
2012
41
Long-term outcome in pyridoxine-dependent epilepsy. ( 22804844 )
2012
42
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. ( 22529283 )
2012
43
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. ( 23022904 )
2012
44
Novel mutations in pyridoxine-dependent epilepsy. ( 20427214 )
2011
45
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. ( 21704546 )
2011
46
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. ( 21397171 )
2011
47
Roth spots in pyridoxine dependent epilepsy. ( 22688935 )
2011
48
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). ( 20554659 )
2010
49
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. ( 20370816 )
2010
50
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. ( 20814824 )
2010
51
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics. ( 20412262 )
2010
52
The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. ( 20887371 )
2010
53
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. ( 19142996 )
2009
54
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. ( 19294602 )
2008
55
Pyridoxine-dependent epilepsy initially responsive to phenobarbital. ( 18094870 )
2007
56
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency. ( 17560822 )
2007
57
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. ( 17068770 )
2007
58
Pipecolic acid: a diagnostic marker in pyridoxine-dependent epilepsy. ( 16178031 )
2005
59
Focal status epilepticus as atypical presentation of pyridoxine-dependent epilepsy. ( 16225819 )
2005
60
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. ( 15944906 )
2005
61
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. ( 11012277 )
2000
62
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. ( 10894227 )
2000
63
A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31. ( 10978228 )
2000
64
Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. ( 10448181 )
1999
65
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy. ( 9621518 )
1998
66
A subtype of pyridoxine-dependent epilepsy with normal CSF glutamate concentration. ( 9700605 )
1998
67
Pyridoxine-dependent epilepsy: the need for repeated pyridoxine trials and the risk of severe electrocerebral suppression with intravenous pyridoxine infusion. ( 8877616 )
1996
68
Pyridoxine dependent epilepsy with iatrogenic sensory neuronopathy. ( 7750075 )
1995
69
[Pyridoxine-dependent epilepsy in an infant]. ( 7566233 )
1995
70
Glutamate in pyridoxine-dependent epilepsy: neurotoxic glutamate concentration in the cerebrospinal fluid and its normalization by pyridoxine. ( 7915028 )
1994
71
Pyridoxine-Dependent Epilepsy ( 20301659 )
1993
72
Pyridoxine-dependent epilepsy: EEG investigations and long-term follow-up. ( 1707793 )
1991

Variations for Epilepsy, Pyridoxine-Dependent

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Pyridoxine-Dependent:

75 (showing 8, show less)
# Symbol AA change Variation ID SNP ID
1 ALDH7A1 p.Ala199Val VAR_031718 rs121912709
2 ALDH7A1 p.Glu427Gln VAR_031719 rs121912707
3 ALDH7A1 p.Gly202Val VAR_069184
4 ALDH7A1 p.Gly291Glu VAR_069185
5 ALDH7A1 p.Asn301Ile VAR_069186 rs121912711
6 ALDH7A1 p.Arg335Gln VAR_069187 rs754449549
7 ALDH7A1 p.Val395Gly VAR_069188
8 ALDH7A1 p.Ser458Asn VAR_069189

ClinVar genetic disease variations for Epilepsy, Pyridoxine-Dependent:

6
(showing 271, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH7A1 ALDH7A1, IVS3DS, T-A, +2 single nucleotide variant Pathogenic
2 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh37 Chromosome 5, 125887751: 125887751
3 ALDH7A1 NM_001182.4(ALDH7A1): c.1279G> C (p.Glu427Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121912707 GRCh38 Chromosome 5, 126552059: 126552059
4 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
5 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh38 Chromosome 5, 126583997: 126583997
6 ALDH7A1 ALDH7A1, IVS5AS, G-C, -1 single nucleotide variant Pathogenic
7 ALDH7A1 NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val) single nucleotide variant Pathogenic rs121912709 GRCh37 Chromosome 5, 125912825: 125912825
8 ALDH7A1 NM_001182.4(ALDH7A1): c.596C> T (p.Ala199Val) single nucleotide variant Pathogenic rs121912709 GRCh38 Chromosome 5, 126577133: 126577133
9 ALDH7A1 NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs) deletion Pathogenic rs387906574 GRCh37 Chromosome 5, 125880680: 125880680
10 ALDH7A1 NM_001182.4(ALDH7A1): c.1597delG (p.Ala533Profs) deletion Pathogenic rs387906574 GRCh38 Chromosome 5, 126544988: 126544988
11 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter) single nucleotide variant Pathogenic rs121912710 GRCh37 Chromosome 5, 125887806: 125887806
12 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> G (p.Tyr408Ter) single nucleotide variant Pathogenic rs121912710 GRCh38 Chromosome 5, 126552114: 126552114
13 ALDH7A1 NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile) single nucleotide variant Pathogenic rs121912711 GRCh37 Chromosome 5, 125896786: 125896786
14 ALDH7A1 NM_001182.4(ALDH7A1): c.902A> T (p.Asn301Ile) single nucleotide variant Pathogenic rs121912711 GRCh38 Chromosome 5, 126561094: 126561094
15 ALDH7A1 ALDH7A1, 750G-A single nucleotide variant Pathogenic
16 ALDH7A1 NM_001182.4(ALDH7A1): c.1093+1G> A single nucleotide variant Pathogenic rs794727058 GRCh37 Chromosome 5, 125891622: 125891622
17 ALDH7A1 NM_001182.4(ALDH7A1): c.1093+1G> A single nucleotide variant Pathogenic rs794727058 GRCh38 Chromosome 5, 126555930: 126555930
18 ALDH7A1 NM_001182.4(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 GRCh37 Chromosome 5, 125880710: 125880710
19 ALDH7A1 NM_001182.4(ALDH7A1): c.1567A> G (p.Thr523Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs61757684 GRCh38 Chromosome 5, 126545018: 126545018
20 ALDH7A1 NM_001182.4(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 GRCh38 Chromosome 5, 126546376: 126546376
21 ALDH7A1 NM_001182.4(ALDH7A1): c.1513G> C (p.Gly505Arg) single nucleotide variant Pathogenic rs556400964 GRCh37 Chromosome 5, 125882068: 125882068
22 ALDH7A1 NM_001182.4(ALDH7A1): c.1301A> G (p.Tyr434Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs747597620 GRCh38 Chromosome 5, 126552037: 126552037
23 ALDH7A1 NM_001182.4(ALDH7A1): c.1301A> G (p.Tyr434Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs747597620 GRCh37 Chromosome 5, 125887729: 125887729
24 ALDH7A1 NM_001182.4(ALDH7A1): c.1016A> G (p.His339Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199767457 GRCh38 Chromosome 5, 126556008: 126556008
25 ALDH7A1 NM_001182.4(ALDH7A1): c.1016A> G (p.His339Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs199767457 GRCh37 Chromosome 5, 125891700: 125891700
26 ALDH7A1 NM_001182.4(ALDH7A1): c.1010T> G (p.Phe337Cys) single nucleotide variant Uncertain significance rs747834606 GRCh38 Chromosome 5, 126556014: 126556014
27 ALDH7A1 NM_001182.4(ALDH7A1): c.1010T> G (p.Phe337Cys) single nucleotide variant Uncertain significance rs747834606 GRCh37 Chromosome 5, 125891706: 125891706
28 ALDH7A1 NM_001182.4(ALDH7A1): c.858G> A (p.Val286=) single nucleotide variant Benign/Likely benign rs150623275 GRCh37 Chromosome 5, 125903964: 125903964
29 ALDH7A1 NM_001182.4(ALDH7A1): c.858G> A (p.Val286=) single nucleotide variant Benign/Likely benign rs150623275 GRCh38 Chromosome 5, 126568272: 126568272
30 ALDH7A1 NM_001182.4(ALDH7A1): c.664A> G (p.Thr222Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs777829351 GRCh38 Chromosome 5, 126575451: 126575451
31 ALDH7A1 NM_001182.4(ALDH7A1): c.664A> G (p.Thr222Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs777829351 GRCh37 Chromosome 5, 125911143: 125911143
32 ALDH7A1 NM_001182.4(ALDH7A1): c.542A> G (p.Gln181Arg) single nucleotide variant Uncertain significance rs796052257 GRCh38 Chromosome 5, 126577187: 126577187
33 ALDH7A1 NM_001182.4(ALDH7A1): c.542A> G (p.Gln181Arg) single nucleotide variant Uncertain significance rs796052257 GRCh37 Chromosome 5, 125912879: 125912879
34 ALDH7A1 NM_001182.4(ALDH7A1): c.364C> T (p.Arg122Trp) single nucleotide variant Uncertain significance rs370624118 GRCh38 Chromosome 5, 126583961: 126583961
35 ALDH7A1 NM_001182.4(ALDH7A1): c.364C> T (p.Arg122Trp) single nucleotide variant Uncertain significance rs370624118 GRCh37 Chromosome 5, 125919653: 125919653
36 ALDH7A1 NM_001182.4(ALDH7A1): c.203C> A (p.Thr68Asn) single nucleotide variant Uncertain significance rs58528748 GRCh38 Chromosome 5, 126593394: 126593394
37 ALDH7A1 NM_001182.4(ALDH7A1): c.203C> A (p.Thr68Asn) single nucleotide variant Uncertain significance rs58528748 GRCh37 Chromosome 5, 125929086: 125929086
38 ALDH7A1 NM_001182.4(ALDH7A1): c.200C> T (p.Thr67Met) single nucleotide variant Conflicting interpretations of pathogenicity rs543181020 GRCh38 Chromosome 5, 126593397: 126593397
39 ALDH7A1 NM_001182.4(ALDH7A1): c.200C> T (p.Thr67Met) single nucleotide variant Conflicting interpretations of pathogenicity rs543181020 GRCh37 Chromosome 5, 125929089: 125929089
40 ALDH7A1 NM_001182.4(ALDH7A1): c.56C> T (p.Ser19Phe) single nucleotide variant Uncertain significance rs566243475 GRCh38 Chromosome 5, 126595143: 126595143
41 ALDH7A1 NM_001182.4(ALDH7A1): c.56C> T (p.Ser19Phe) single nucleotide variant Uncertain significance rs566243475 GRCh37 Chromosome 5, 125930835: 125930835
42 ALDH7A1 NM_001182.4(ALDH7A1): c.31_33delCACinsGAG (p.His11Glu) indel Uncertain significance rs796052269 GRCh38 Chromosome 5, 126595166: 126595168
43 ALDH7A1 NM_001182.4(ALDH7A1): c.31_33delCACinsGAG (p.His11Glu) indel Uncertain significance rs796052269 GRCh37 Chromosome 5, 125930858: 125930860
44 ALDH7A1 NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val) single nucleotide variant Pathogenic rs864622557 GRCh38 Chromosome 5, 126554294: 126554294
45 ALDH7A1 NM_001182.4(ALDH7A1): c.1193G> T (p.Gly398Val) single nucleotide variant Pathogenic rs864622557 GRCh37 Chromosome 5, 125889986: 125889986
46 ALDH7A1 NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys) single nucleotide variant Pathogenic rs864622558 GRCh37 Chromosome 5, 125894954: 125894954
47 ALDH7A1 NM_001182.4(ALDH7A1): c.986G> A (p.Arg329Lys) single nucleotide variant Pathogenic rs864622558 GRCh38 Chromosome 5, 126559262: 126559262
48 ALDH7A1 NM_001182.4(ALDH7A1): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs372660425 GRCh38 Chromosome 5, 126577145: 126577145
49 ALDH7A1 NM_001182.4(ALDH7A1): c.584A> G (p.Asn195Ser) single nucleotide variant Pathogenic rs372660425 GRCh37 Chromosome 5, 125912837: 125912837
50 ALDH7A1 NM_001182.4(ALDH7A1): c.1201-8T> C single nucleotide variant Likely benign rs558579795 GRCh38 Chromosome 5, 126552145: 126552145
51 ALDH7A1 NM_001182.4(ALDH7A1): c.1201-8T> C single nucleotide variant Likely benign rs558579795 GRCh37 Chromosome 5, 125887837: 125887837
52 ALDH7A1 NM_001182.4(ALDH7A1): c.518-12T> G single nucleotide variant Benign/Likely benign rs79544459 GRCh38 Chromosome 5, 126577223: 126577223
53 ALDH7A1 NM_001182.4(ALDH7A1): c.518-12T> G single nucleotide variant Benign/Likely benign rs79544459 GRCh37 Chromosome 5, 125912915: 125912915
54 ALDH7A1 NM_001182.4(ALDH7A1): c.1406G> A (p.Arg469His) single nucleotide variant Conflicting interpretations of pathogenicity rs147940248 GRCh37 Chromosome 5, 125885897: 125885897
55 ALDH7A1 NM_001182.4(ALDH7A1): c.1406G> A (p.Arg469His) single nucleotide variant Conflicting interpretations of pathogenicity rs147940248 GRCh38 Chromosome 5, 126550205: 126550205
56 ALDH7A1 NM_001182.4(ALDH7A1): c.834G> A (p.Val278=) single nucleotide variant Pathogenic rs201948406 GRCh37 Chromosome 5, 125903988: 125903988
57 ALDH7A1 NM_001182.4(ALDH7A1): c.834G> A (p.Val278=) single nucleotide variant Pathogenic rs201948406 GRCh38 Chromosome 5, 126568296: 126568296
58 ALDH7A1 NM_001182.4(ALDH7A1): c.63T> C (p.Pro21=) single nucleotide variant Conflicting interpretations of pathogenicity rs368427726 GRCh37 Chromosome 5, 125930828: 125930828
59 ALDH7A1 NM_001182.4(ALDH7A1): c.63T> C (p.Pro21=) single nucleotide variant Conflicting interpretations of pathogenicity rs368427726 GRCh38 Chromosome 5, 126595136: 126595136
60 ALDH7A1 NM_001182.4(ALDH7A1): c.*3022T> C single nucleotide variant Benign rs2035471 GRCh38 Chromosome 5, 126541943: 126541943
61 ALDH7A1 NM_001182.4(ALDH7A1): c.*3022T> C single nucleotide variant Benign rs2035471 GRCh37 Chromosome 5, 125877635: 125877635
62 ALDH7A1 NM_001182.4(ALDH7A1): c.*2464dupT duplication Uncertain significance rs200155555 GRCh37 Chromosome 5, 125878193: 125878193
63 ALDH7A1 NM_001182.4(ALDH7A1): c.*2464dupT duplication Uncertain significance rs200155555 GRCh38 Chromosome 5, 126542501: 126542501
64 ALDH7A1 NM_001182.4(ALDH7A1): c.*2387A> G single nucleotide variant Uncertain significance rs116566135 GRCh37 Chromosome 5, 125878270: 125878270
65 ALDH7A1 NM_001182.4(ALDH7A1): c.*2387A> G single nucleotide variant Uncertain significance rs116566135 GRCh38 Chromosome 5, 126542578: 126542578
66 ALDH7A1 NM_001182.4(ALDH7A1): c.*2126G> A single nucleotide variant Uncertain significance rs115168957 GRCh37 Chromosome 5, 125878531: 125878531
67 ALDH7A1 NM_001182.4(ALDH7A1): c.*2126G> A single nucleotide variant Uncertain significance rs115168957 GRCh38 Chromosome 5, 126542839: 126542839
68 ALDH7A1 NM_001182.4(ALDH7A1): c.*1839G> A single nucleotide variant Uncertain significance rs886059838 GRCh37 Chromosome 5, 125878818: 125878818
69 ALDH7A1 NM_001182.4(ALDH7A1): c.*1839G> A single nucleotide variant Uncertain significance rs886059838 GRCh38 Chromosome 5, 126543126: 126543126
70 ALDH7A1 NM_001182.4(ALDH7A1): c.*690T> C single nucleotide variant Uncertain significance rs139905907 GRCh38 Chromosome 5, 126544275: 126544275
71 ALDH7A1 NM_001182.4(ALDH7A1): c.*1836C> A single nucleotide variant Uncertain significance rs763990036 GRCh37 Chromosome 5, 125878821: 125878821
72 ALDH7A1 NM_001182.4(ALDH7A1): c.*1836C> A single nucleotide variant Uncertain significance rs763990036 GRCh38 Chromosome 5, 126543129: 126543129
73 ALDH7A1 NM_001182.4(ALDH7A1): c.*1748T> A single nucleotide variant Benign rs744721 GRCh38 Chromosome 5, 126543217: 126543217
74 ALDH7A1 NM_001182.4(ALDH7A1): c.*1748T> A single nucleotide variant Benign rs744721 GRCh37 Chromosome 5, 125878909: 125878909
75 ALDH7A1 NM_001182.4(ALDH7A1): c.*1529A> G single nucleotide variant Uncertain significance rs886059839 GRCh38 Chromosome 5, 126543436: 126543436
76 ALDH7A1 NM_001182.4(ALDH7A1): c.*1529A> G single nucleotide variant Uncertain significance rs886059839 GRCh37 Chromosome 5, 125879128: 125879128
77 ALDH7A1 NM_001182.4(ALDH7A1): c.*1368A> T single nucleotide variant Likely benign rs115645125 GRCh38 Chromosome 5, 126543597: 126543597
78 ALDH7A1 NM_001182.4(ALDH7A1): c.*1368A> T single nucleotide variant Likely benign rs115645125 GRCh37 Chromosome 5, 125879289: 125879289
79 ALDH7A1 NM_001182.4(ALDH7A1): c.*1176G> A single nucleotide variant Uncertain significance rs886059842 GRCh38 Chromosome 5, 126543789: 126543789
80 ALDH7A1 NM_001182.4(ALDH7A1): c.*1176G> A single nucleotide variant Uncertain significance rs886059842 GRCh37 Chromosome 5, 125879481: 125879481
81 ALDH7A1 NM_001182.4(ALDH7A1): c.*1112T> G single nucleotide variant Likely benign rs80345302 GRCh38 Chromosome 5, 126543853: 126543853
82 ALDH7A1 NM_001182.4(ALDH7A1): c.*1112T> G single nucleotide variant Likely benign rs80345302 GRCh37 Chromosome 5, 125879545: 125879545
83 ALDH7A1 NM_001182.4(ALDH7A1): c.*1108G> A single nucleotide variant Benign rs1483780 GRCh38 Chromosome 5, 126543857: 126543857
84 ALDH7A1 NM_001182.4(ALDH7A1): c.*1108G> A single nucleotide variant Benign rs1483780 GRCh37 Chromosome 5, 125879549: 125879549
85 ALDH7A1 NM_001182.4(ALDH7A1): c.*980delC deletion Uncertain significance rs886059846 GRCh37 Chromosome 5, 125879677: 125879677
86 ALDH7A1 NM_001182.4(ALDH7A1): c.*980delC deletion Uncertain significance rs886059846 GRCh38 Chromosome 5, 126543985: 126543985
87 ALDH7A1 NM_001182.4(ALDH7A1): c.*690T> C single nucleotide variant Uncertain significance rs139905907 GRCh37 Chromosome 5, 125879967: 125879967
88 ALDH7A1 NM_001182.4(ALDH7A1): c.*409delG deletion Uncertain significance rs556732113 GRCh37 Chromosome 5, 125880248: 125880248
89 ALDH7A1 NM_001182.4(ALDH7A1): c.*409delG deletion Uncertain significance rs556732113 GRCh38 Chromosome 5, 126544556: 126544556
90 ALDH7A1 NM_001182.4(ALDH7A1): c.*404G> A single nucleotide variant Uncertain significance rs533678440 GRCh37 Chromosome 5, 125880253: 125880253
91 ALDH7A1 NM_001182.4(ALDH7A1): c.*404G> A single nucleotide variant Uncertain significance rs533678440 GRCh38 Chromosome 5, 126544561: 126544561
92 ALDH7A1 NM_001182.4(ALDH7A1): c.1439T> C (p.Ile480Thr) single nucleotide variant Uncertain significance rs886059849 GRCh37 Chromosome 5, 125885671: 125885671
93 ALDH7A1 NM_001182.4(ALDH7A1): c.1439T> C (p.Ile480Thr) single nucleotide variant Uncertain significance rs886059849 GRCh38 Chromosome 5, 126549979: 126549979
94 ALDH7A1 NM_001182.4(ALDH7A1): c.1008+11C> T single nucleotide variant Uncertain significance rs367574304 GRCh37 Chromosome 5, 125894921: 125894921
95 ALDH7A1 NM_001182.4(ALDH7A1): c.1008+11C> T single nucleotide variant Uncertain significance rs367574304 GRCh38 Chromosome 5, 126559229: 126559229
96 ALDH7A1 NM_001182.4(ALDH7A1): c.-80T> G single nucleotide variant Uncertain significance rs563928852 GRCh38 Chromosome 5, 126595278: 126595278
97 ALDH7A1 NM_001182.4(ALDH7A1): c.-80T> G single nucleotide variant Uncertain significance rs563928852 GRCh37 Chromosome 5, 125930970: 125930970
98 ALDH7A1 NM_001182.4(ALDH7A1): c.-132A> C single nucleotide variant Benign rs900641 GRCh38 Chromosome 5, 126595330: 126595330
99 ALDH7A1 NM_001182.4(ALDH7A1): c.-132A> C single nucleotide variant Benign rs900641 GRCh37 Chromosome 5, 125931022: 125931022
100 ALDH7A1 NM_001182.4(ALDH7A1): c.*3124A> G single nucleotide variant Uncertain significance rs572425402 GRCh38 Chromosome 5, 126541841: 126541841
101 ALDH7A1 NM_001182.4(ALDH7A1): c.*3124A> G single nucleotide variant Uncertain significance rs572425402 GRCh37 Chromosome 5, 125877533: 125877533
102 ALDH7A1 NM_001182.4(ALDH7A1): c.*2818T> C single nucleotide variant Uncertain significance rs886059833 GRCh37 Chromosome 5, 125877839: 125877839
103 ALDH7A1 NM_001182.4(ALDH7A1): c.*2818T> C single nucleotide variant Uncertain significance rs886059833 GRCh38 Chromosome 5, 126542147: 126542147
104 ALDH7A1 NM_001182.4(ALDH7A1): c.*2568_*2569dupGC duplication Uncertain significance rs771970643 GRCh37 Chromosome 5, 125878088: 125878089
105 ALDH7A1 NM_001182.4(ALDH7A1): c.*2568_*2569dupGC duplication Uncertain significance rs771970643 GRCh38 Chromosome 5, 126542396: 126542397
106 ALDH7A1 NM_001182.4(ALDH7A1): c.*2409A> C single nucleotide variant Uncertain significance rs776633516 GRCh37 Chromosome 5, 125878248: 125878248
107 ALDH7A1 NM_001182.4(ALDH7A1): c.*2409A> C single nucleotide variant Uncertain significance rs776633516 GRCh38 Chromosome 5, 126542556: 126542556
108 ALDH7A1 NM_001182.4(ALDH7A1): c.*2365C> T single nucleotide variant Uncertain significance rs886059837 GRCh37 Chromosome 5, 125878292: 125878292
109 ALDH7A1 NM_001182.4(ALDH7A1): c.*2365C> T single nucleotide variant Uncertain significance rs886059837 GRCh38 Chromosome 5, 126542600: 126542600
110 ALDH7A1 NM_001182.4(ALDH7A1): c.*2314T> C single nucleotide variant Uncertain significance rs561998848 GRCh37 Chromosome 5, 125878343: 125878343
111 ALDH7A1 NM_001182.4(ALDH7A1): c.*2314T> C single nucleotide variant Uncertain significance rs561998848 GRCh38 Chromosome 5, 126542651: 126542651
112 ALDH7A1 NM_001182.4(ALDH7A1): c.*1804C> T single nucleotide variant Likely benign rs744723 GRCh37 Chromosome 5, 125878853: 125878853
113 ALDH7A1 NM_001182.4(ALDH7A1): c.*1804C> T single nucleotide variant Likely benign rs744723 GRCh38 Chromosome 5, 126543161: 126543161
114 ALDH7A1 NM_001182.4(ALDH7A1): c.*1748_*1749delTGinsAT indel Uncertain significance rs386692155 GRCh38 Chromosome 5, 126543216: 126543217
115 ALDH7A1 NM_001182.4(ALDH7A1): c.*1748_*1749delTGinsAT indel Uncertain significance rs386692155 GRCh37 Chromosome 5, 125878908: 125878909
116 ALDH7A1 NM_001182.4(ALDH7A1): c.*1672A> G single nucleotide variant Likely benign rs78029541 GRCh38 Chromosome 5, 126543293: 126543293
117 ALDH7A1 NM_001182.4(ALDH7A1): c.*1672A> G single nucleotide variant Likely benign rs78029541 GRCh37 Chromosome 5, 125878985: 125878985
118 ALDH7A1 NM_001182.4(ALDH7A1): c.*1484T> C single nucleotide variant Uncertain significance rs886059841 GRCh38 Chromosome 5, 126543481: 126543481
119 ALDH7A1 NM_001182.4(ALDH7A1): c.*1484T> C single nucleotide variant Uncertain significance rs886059841 GRCh37 Chromosome 5, 125879173: 125879173
120 ALDH7A1 NM_001182.4(ALDH7A1): c.*1059G> A single nucleotide variant Uncertain significance rs541187121 GRCh38 Chromosome 5, 126543906: 126543906
121 ALDH7A1 NM_001182.4(ALDH7A1): c.*1059G> A single nucleotide variant Uncertain significance rs541187121 GRCh37 Chromosome 5, 125879598: 125879598
122 ALDH7A1 NM_001182.4(ALDH7A1): c.*1004dupC duplication Uncertain significance rs886059843 GRCh38 Chromosome 5, 126543961: 126543961
123 ALDH7A1 NM_001182.4(ALDH7A1): c.*1004dupC duplication Uncertain significance rs886059843 GRCh37 Chromosome 5, 125879653: 125879653
124 ALDH7A1 NM_001182.4(ALDH7A1): c.*1002delT deletion Uncertain significance rs886059845 GRCh38 Chromosome 5, 126543963: 126543963
125 ALDH7A1 NM_001182.4(ALDH7A1): c.*1002delT deletion Uncertain significance rs886059845 GRCh37 Chromosome 5, 125879655: 125879655
126 ALDH7A1 NM_001182.4(ALDH7A1): c.*1000dupA duplication Uncertain significance rs368894310 GRCh37 Chromosome 5, 125879657: 125879657
127 ALDH7A1 NM_001182.4(ALDH7A1): c.*1000dupA duplication Uncertain significance rs368894310 GRCh38 Chromosome 5, 126543965: 126543965
128 ALDH7A1 NM_001182.4(ALDH7A1): c.*818G> A single nucleotide variant Benign rs1138005 GRCh37 Chromosome 5, 125879839: 125879839
129 ALDH7A1 NM_001182.4(ALDH7A1): c.*818G> A single nucleotide variant Benign rs1138005 GRCh38 Chromosome 5, 126544147: 126544147
130 ALDH7A1 NM_001182.4(ALDH7A1): c.*717G> A single nucleotide variant Uncertain significance rs886059847 GRCh37 Chromosome 5, 125879940: 125879940
131 ALDH7A1 NM_001182.4(ALDH7A1): c.*717G> A single nucleotide variant Uncertain significance rs886059847 GRCh38 Chromosome 5, 126544248: 126544248
132 ALDH7A1 NM_001182.4(ALDH7A1): c.119C> T (p.Ala40Val) single nucleotide variant Uncertain significance rs745385277 GRCh37 Chromosome 5, 125930772: 125930772
133 ALDH7A1 NM_001182.4(ALDH7A1): c.119C> T (p.Ala40Val) single nucleotide variant Uncertain significance rs745385277 GRCh38 Chromosome 5, 126595080: 126595080
134 ALDH7A1 NM_001182.4(ALDH7A1): c.-117G> T single nucleotide variant Likely benign rs146562077 GRCh38 Chromosome 5, 126595315: 126595315
135 ALDH7A1 NM_001182.4(ALDH7A1): c.-117G> T single nucleotide variant Likely benign rs146562077 GRCh37 Chromosome 5, 125931007: 125931007
136 ALDH7A1 NM_001182.4(ALDH7A1): c.*2997dupT duplication Benign rs5871217 GRCh37 Chromosome 5, 125877660: 125877660
137 ALDH7A1 NM_001182.4(ALDH7A1): c.*2997dupT duplication Benign rs5871217 GRCh38 Chromosome 5, 126541968: 126541968
138 ALDH7A1 NM_001182.4(ALDH7A1): c.*2820dupT duplication Uncertain significance rs886059832 GRCh37 Chromosome 5, 125877837: 125877837
139 ALDH7A1 NM_001182.4(ALDH7A1): c.*2820dupT duplication Uncertain significance rs886059832 GRCh38 Chromosome 5, 126542145: 126542145
140 ALDH7A1 NM_001182.4(ALDH7A1): c.*2499G> A single nucleotide variant Benign rs7715516 GRCh37 Chromosome 5, 125878158: 125878158
141 ALDH7A1 NM_001182.4(ALDH7A1): c.*2499G> A single nucleotide variant Benign rs7715516 GRCh38 Chromosome 5, 126542466: 126542466
142 ALDH7A1 NM_001182.4(ALDH7A1): c.*2492C> T single nucleotide variant Uncertain significance rs768166252 GRCh37 Chromosome 5, 125878165: 125878165
143 ALDH7A1 NM_001182.4(ALDH7A1): c.*2492C> T single nucleotide variant Uncertain significance rs768166252 GRCh38 Chromosome 5, 126542473: 126542473
144 ALDH7A1 NM_001182.4(ALDH7A1): c.*1693A> C single nucleotide variant Uncertain significance rs557939339 GRCh38 Chromosome 5, 126543272: 126543272
145 ALDH7A1 NM_001182.4(ALDH7A1): c.*1693A> C single nucleotide variant Uncertain significance rs557939339 GRCh37 Chromosome 5, 125878964: 125878964
146 ALDH7A1 NM_001182.4(ALDH7A1): c.*1209G> A single nucleotide variant Uncertain significance rs555172968 GRCh38 Chromosome 5, 126543756: 126543756
147 ALDH7A1 NM_001182.4(ALDH7A1): c.*1209G> A single nucleotide variant Uncertain significance rs555172968 GRCh37 Chromosome 5, 125879448: 125879448
148 ALDH7A1 NM_001182.4(ALDH7A1): c.*403C> T single nucleotide variant Uncertain significance rs112493228 GRCh37 Chromosome 5, 125880254: 125880254
149 ALDH7A1 NM_001182.4(ALDH7A1): c.*403C> T single nucleotide variant Uncertain significance rs112493228 GRCh38 Chromosome 5, 126544562: 126544562
150 ALDH7A1 NM_001182.4(ALDH7A1): c.*68A> G single nucleotide variant Benign rs2775 GRCh37 Chromosome 5, 125880589: 125880589
151 ALDH7A1 NM_001182.4(ALDH7A1): c.*68A> G single nucleotide variant Benign rs2775 GRCh38 Chromosome 5, 126544897: 126544897
152 ALDH7A1 NM_001182.4(ALDH7A1): c.518-8G> A single nucleotide variant Uncertain significance rs886059850 GRCh37 Chromosome 5, 125912911: 125912911
153 ALDH7A1 NM_001182.4(ALDH7A1): c.518-8G> A single nucleotide variant Uncertain significance rs886059850 GRCh38 Chromosome 5, 126577219: 126577219
154 ALDH7A1 NM_001182.4(ALDH7A1): c.394-15G> A single nucleotide variant Uncertain significance rs766287925 GRCh37 Chromosome 5, 125918681: 125918681
155 ALDH7A1 NM_001182.4(ALDH7A1): c.394-15G> A single nucleotide variant Uncertain significance rs766287925 GRCh38 Chromosome 5, 126582989: 126582989
156 ALDH7A1 NM_001182.4(ALDH7A1): c.-60G> A single nucleotide variant Benign/Likely benign rs144272515 GRCh37 Chromosome 5, 125930950: 125930950
157 ALDH7A1 NM_001182.4(ALDH7A1): c.-60G> A single nucleotide variant Benign/Likely benign rs144272515 GRCh38 Chromosome 5, 126595258: 126595258
158 ALDH7A1 NM_001182.4(ALDH7A1): c.-151C> T single nucleotide variant Benign rs900640 GRCh38 Chromosome 5, 126595349: 126595349
159 ALDH7A1 NM_001182.4(ALDH7A1): c.-151C> T single nucleotide variant Benign rs900640 GRCh37 Chromosome 5, 125931041: 125931041
160 ALDH7A1 NM_001182.4(ALDH7A1): c.*2996_*2997dupTT duplication Uncertain significance rs5871217 GRCh37 Chromosome 5, 125877660: 125877661
161 ALDH7A1 NM_001182.4(ALDH7A1): c.*2996_*2997dupTT duplication Uncertain significance rs5871217 GRCh38 Chromosome 5, 126541968: 126541969
162 ALDH7A1 NM_001182.4(ALDH7A1): c.*2781C> T single nucleotide variant Uncertain significance rs886059834 GRCh37 Chromosome 5, 125877876: 125877876
163 ALDH7A1 NM_001182.4(ALDH7A1): c.*2781C> T single nucleotide variant Uncertain significance rs886059834 GRCh38 Chromosome 5, 126542184: 126542184
164 ALDH7A1 NM_001182.4(ALDH7A1): c.*2700A> T single nucleotide variant Uncertain significance rs886059835 GRCh37 Chromosome 5, 125877957: 125877957
165 ALDH7A1 NM_001182.4(ALDH7A1): c.*2700A> T single nucleotide variant Uncertain significance rs886059835 GRCh38 Chromosome 5, 126542265: 126542265
166 ALDH7A1 NM_001182.4(ALDH7A1): c.*2584C> A single nucleotide variant Uncertain significance rs886059836 GRCh37 Chromosome 5, 125878073: 125878073
167 ALDH7A1 NM_001182.4(ALDH7A1): c.*2584C> A single nucleotide variant Uncertain significance rs886059836 GRCh38 Chromosome 5, 126542381: 126542381
168 ALDH7A1 NM_001182.4(ALDH7A1): c.*2549G> C single nucleotide variant Uncertain significance rs556404419 GRCh37 Chromosome 5, 125878108: 125878108
169 ALDH7A1 NM_001182.4(ALDH7A1): c.*2549G> C single nucleotide variant Uncertain significance rs556404419 GRCh38 Chromosome 5, 126542416: 126542416
170 ALDH7A1 NM_001182.4(ALDH7A1): c.*2512G> A single nucleotide variant Uncertain significance rs76363408 GRCh37 Chromosome 5, 125878145: 125878145
171 ALDH7A1 NM_001182.4(ALDH7A1): c.*2512G> A single nucleotide variant Uncertain significance rs76363408 GRCh38 Chromosome 5, 126542453: 126542453
172 ALDH7A1 NM_001182.4(ALDH7A1): c.*2423C> T single nucleotide variant Uncertain significance rs114575585 GRCh37 Chromosome 5, 125878234: 125878234
173 ALDH7A1 NM_001182.4(ALDH7A1): c.*2423C> T single nucleotide variant Uncertain significance rs114575585 GRCh38 Chromosome 5, 126542542: 126542542
174 ALDH7A1 NM_001182.4(ALDH7A1): c.*2254T> A single nucleotide variant Likely benign rs76249070 GRCh37 Chromosome 5, 125878403: 125878403
175 ALDH7A1 NM_001182.4(ALDH7A1): c.*2254T> A single nucleotide variant Likely benign rs76249070 GRCh38 Chromosome 5, 126542711: 126542711
176 ALDH7A1 NM_001182.4(ALDH7A1): c.*1749G> T single nucleotide variant Benign rs744722 GRCh38 Chromosome 5, 126543216: 126543216
177 ALDH7A1 NM_001182.4(ALDH7A1): c.*1749G> T single nucleotide variant Benign rs744722 GRCh37 Chromosome 5, 125878908: 125878908
178 ALDH7A1 NM_001182.4(ALDH7A1): c.*1741T> A single nucleotide variant Likely benign rs744720 GRCh37 Chromosome 5, 125878916: 125878916
179 ALDH7A1 NM_001182.4(ALDH7A1): c.*1741T> A single nucleotide variant Likely benign rs744720 GRCh38 Chromosome 5, 126543224: 126543224
180 ALDH7A1 NM_001182.4(ALDH7A1): c.*1730C> T single nucleotide variant Uncertain significance rs185960737 GRCh38 Chromosome 5, 126543235: 126543235
181 ALDH7A1 NM_001182.4(ALDH7A1): c.*1730C> T single nucleotide variant Uncertain significance rs185960737 GRCh37 Chromosome 5, 125878927: 125878927
182 ALDH7A1 NM_001182.4(ALDH7A1): c.*1702delT deletion Benign rs5871218 GRCh38 Chromosome 5, 126543263: 126543263
183 ALDH7A1 NM_001182.4(ALDH7A1): c.*1702delT deletion Benign rs5871218 GRCh37 Chromosome 5, 125878955: 125878955
184 ALDH7A1 NM_001182.4(ALDH7A1): c.*1496T> A single nucleotide variant Uncertain significance rs886059840 GRCh38 Chromosome 5, 126543469: 126543469
185 ALDH7A1 NM_001182.4(ALDH7A1): c.*1496T> A single nucleotide variant Uncertain significance rs886059840 GRCh37 Chromosome 5, 125879161: 125879161
186 ALDH7A1 NM_001182.4(ALDH7A1): c.*1441C> T single nucleotide variant Uncertain significance rs541286622 GRCh38 Chromosome 5, 126543524: 126543524
187 ALDH7A1 NM_001182.4(ALDH7A1): c.*1441C> T single nucleotide variant Uncertain significance rs541286622 GRCh37 Chromosome 5, 125879216: 125879216
188 ALDH7A1 NM_001182.4(ALDH7A1): c.*1002_*1003insA insertion Uncertain significance rs886059844 GRCh37 Chromosome 5, 125879654: 125879655
189 ALDH7A1 NM_001182.4(ALDH7A1): c.*1002_*1003insA insertion Uncertain significance rs886059844 GRCh38 Chromosome 5, 126543962: 126543963
190 ALDH7A1 NM_001182.4(ALDH7A1): c.*999_*1000dupAA duplication Uncertain significance rs368894310 GRCh38 Chromosome 5, 126543965: 126543966
191 ALDH7A1 NM_001182.4(ALDH7A1): c.*999_*1000dupAA duplication Uncertain significance rs368894310 GRCh37 Chromosome 5, 125879657: 125879658
192 ALDH7A1 NM_001182.4(ALDH7A1): c.*998_*1000dupAAA duplication Uncertain significance rs368894310 GRCh37 Chromosome 5, 125879657: 125879659
193 ALDH7A1 NM_001182.4(ALDH7A1): c.*998_*1000dupAAA duplication Uncertain significance rs368894310 GRCh38 Chromosome 5, 126543965: 126543967
194 ALDH7A1 NM_001182.4(ALDH7A1): c.*898_*900delGAG deletion Uncertain significance rs543290589 GRCh37 Chromosome 5, 125879757: 125879759
195 ALDH7A1 NM_001182.4(ALDH7A1): c.*898_*900delGAG deletion Uncertain significance rs543290589 GRCh38 Chromosome 5, 126544065: 126544067
196 ALDH7A1 NM_001182.4(ALDH7A1): c.*807C> G single nucleotide variant Benign rs1807 GRCh37 Chromosome 5, 125879850: 125879850
197 ALDH7A1 NM_001182.4(ALDH7A1): c.*807C> G single nucleotide variant Benign rs1807 GRCh38 Chromosome 5, 126544158: 126544158
198 ALDH7A1 NM_001182.4(ALDH7A1): c.*726C> T single nucleotide variant Benign rs1060857 GRCh37 Chromosome 5, 125879931: 125879931
199 ALDH7A1 NM_001182.4(ALDH7A1): c.*726C> T single nucleotide variant Benign rs1060857 GRCh38 Chromosome 5, 126544239: 126544239
200 ALDH7A1 NM_001182.4(ALDH7A1): c.*641G> A single nucleotide variant Uncertain significance rs372065850 GRCh37 Chromosome 5, 125880016: 125880016
201 ALDH7A1 NM_001182.4(ALDH7A1): c.*641G> A single nucleotide variant Uncertain significance rs372065850 GRCh38 Chromosome 5, 126544324: 126544324
202 ALDH7A1 NM_001182.4(ALDH7A1): c.*548C> T single nucleotide variant Likely benign rs1060856 GRCh37 Chromosome 5, 125880109: 125880109
203 ALDH7A1 NM_001182.4(ALDH7A1): c.*548C> T single nucleotide variant Likely benign rs1060856 GRCh38 Chromosome 5, 126544417: 126544417
204 ALDH7A1 NM_001182.4(ALDH7A1): c.*65G> A single nucleotide variant Uncertain significance rs886059848 GRCh37 Chromosome 5, 125880592: 125880592
205 ALDH7A1 NM_001182.4(ALDH7A1): c.*65G> A single nucleotide variant Uncertain significance rs886059848 GRCh38 Chromosome 5, 126544900: 126544900
206 ALDH7A1 NM_001182.4(ALDH7A1): c.313-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201720741 GRCh37 Chromosome 5, 125919719: 125919719
207 ALDH7A1 NM_001182.4(ALDH7A1): c.313-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201720741 GRCh38 Chromosome 5, 126584027: 126584027
208 ALDH7A1 NM_001182.4(ALDH7A1): c.34delG (p.Ala12Leufs) deletion Conflicting interpretations of pathogenicity rs750693623 GRCh37 Chromosome 5, 125930857: 125930857
209 ALDH7A1 NM_001182.4(ALDH7A1): c.34delG (p.Ala12Leufs) deletion Conflicting interpretations of pathogenicity rs750693623 GRCh38 Chromosome 5, 126595165: 126595165
210 ALDH7A1 NM_001182.4(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 GRCh37 Chromosome 5, 125880712: 125880712
211 ALDH7A1 NM_001182.4(ALDH7A1): c.1566-1G> T single nucleotide variant Pathogenic rs140845195 GRCh38 Chromosome 5, 126545020: 126545020
212 ALDH7A1 NM_001182.4(ALDH7A1): c.1305C> G (p.Val435=) single nucleotide variant Benign/Likely benign rs142975776 GRCh37 Chromosome 5, 125887725: 125887725
213 ALDH7A1 NM_001182.4(ALDH7A1): c.1305C> G (p.Val435=) single nucleotide variant Benign/Likely benign rs142975776 GRCh38 Chromosome 5, 126552033: 126552033
214 ALDH7A1 NM_001182.4(ALDH7A1): c.960C> T (p.Phe320=) single nucleotide variant Likely benign rs114516357 GRCh37 Chromosome 5, 125894980: 125894980
215 ALDH7A1 NM_001182.4(ALDH7A1): c.960C> T (p.Phe320=) single nucleotide variant Likely benign rs114516357 GRCh38 Chromosome 5, 126559288: 126559288
216 ALDH7A1 NM_001182.4(ALDH7A1): c.247-1G> C single nucleotide variant Likely pathogenic rs1060502949 GRCh38 Chromosome 5, 126592730: 126592730
217 ALDH7A1 NM_001182.4(ALDH7A1): c.247-1G> C single nucleotide variant Likely pathogenic rs1060502949 GRCh37 Chromosome 5, 125928422: 125928422
218 ALDH7A1 NM_001182.4(ALDH7A1): c.1374C> T (p.Ser458=) single nucleotide variant Likely benign rs978958073 GRCh37 Chromosome 5, 125885929: 125885929
219 ALDH7A1 NM_001182.4(ALDH7A1): c.1374C> T (p.Ser458=) single nucleotide variant Likely benign rs978958073 GRCh38 Chromosome 5, 126550237: 126550237
220 ALDH7A1 NM_001182.4(ALDH7A1): c.354C> T (p.Gly118=) single nucleotide variant Conflicting interpretations of pathogenicity rs149228266 GRCh37 Chromosome 5, 125919663: 125919663
221 ALDH7A1 NM_001182.4(ALDH7A1): c.354C> T (p.Gly118=) single nucleotide variant Conflicting interpretations of pathogenicity rs149228266 GRCh38 Chromosome 5, 126583971: 126583971
222 ALDH7A1 NM_001182.4(ALDH7A1): c.79G> C (p.Ala27Pro) single nucleotide variant Uncertain significance rs1060502950 GRCh37 Chromosome 5, 125930812: 125930812
223 ALDH7A1 NM_001182.4(ALDH7A1): c.79G> C (p.Ala27Pro) single nucleotide variant Uncertain significance rs1060502950 GRCh38 Chromosome 5, 126595120: 126595120
224 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> C (p.Tyr408=) single nucleotide variant Likely benign rs121912710 GRCh37 Chromosome 5, 125887806: 125887806
225 ALDH7A1 NM_001182.4(ALDH7A1): c.1224T> C (p.Tyr408=) single nucleotide variant Likely benign rs121912710 GRCh38 Chromosome 5, 126552114: 126552114
226 ALDH7A1 NM_001182.4(ALDH7A1): c.682G> A (p.Val228Met) single nucleotide variant Uncertain significance rs201832111 GRCh37 Chromosome 5, 125911125: 125911125
227 ALDH7A1 NM_001182.4(ALDH7A1): c.682G> A (p.Val228Met) single nucleotide variant Uncertain significance rs201832111 GRCh38 Chromosome 5, 126575433: 126575433
228 ALDH7A1 NM_001182.4(ALDH7A1): c.914C> G (p.Ala305Gly) single nucleotide variant Uncertain significance rs141775154 GRCh38 Chromosome 5, 126559334: 126559334
229 ALDH7A1 NM_001182.4(ALDH7A1): c.914C> G (p.Ala305Gly) single nucleotide variant Uncertain significance rs141775154 GRCh37 Chromosome 5, 125895026: 125895026
230 ALDH7A1 NM_001182.4(ALDH7A1): c.530C> A (p.Ala177Glu) single nucleotide variant Pathogenic rs764417585 GRCh38 Chromosome 5, 126577199: 126577199
231 ALDH7A1 NM_001182.4(ALDH7A1): c.530C> A (p.Ala177Glu) single nucleotide variant Pathogenic rs764417585 GRCh37 Chromosome 5, 125912891: 125912891
232 ALDH7A1 NM_001182.4(ALDH7A1): c.263A> T (p.Tyr88Phe) single nucleotide variant Uncertain significance rs376294954 GRCh38 Chromosome 5, 126592713: 126592713
233 ALDH7A1 NM_001182.4(ALDH7A1): c.263A> T (p.Tyr88Phe) single nucleotide variant Uncertain significance rs376294954 GRCh37 Chromosome 5, 125928405: 125928405
234 ALDH7A1 NM_001182.4(ALDH7A1): c.589C> T (p.Pro197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs779652673 GRCh37 Chromosome 5, 125912832: 125912832
235 ALDH7A1 NM_001182.4(ALDH7A1): c.589C> T (p.Pro197Ser) single nucleotide variant Pathogenic/Likely pathogenic rs779652673 GRCh38 Chromosome 5, 126577140: 126577140
236 ALDH7A1 NM_001182.4(ALDH7A1): c.1559C> T (p.Ser520Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 126546330: 126546330
237 ALDH7A1 NM_001182.4(ALDH7A1): c.1559C> T (p.Ser520Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 125882022: 125882022
238 ALDH7A1 NM_001182.4(ALDH7A1): c.1200+1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 126554286: 126554286
239 ALDH7A1 NM_001182.4(ALDH7A1): c.1200+1G> T single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 125889978: 125889978
240 ALDH7A1 NM_001182.4(ALDH7A1): c.359C> G (p.Ala120Gly) single nucleotide variant Uncertain significance rs549279821 GRCh38 Chromosome 5, 126583966: 126583966
241 ALDH7A1 NM_001182.4(ALDH7A1): c.359C> G (p.Ala120Gly) single nucleotide variant Uncertain significance rs549279821 GRCh37 Chromosome 5, 125919658: 125919658
242 ALDH7A1 NM_001182.4(ALDH7A1): c.355G> A (p.Asp119Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 126583970: 126583970
243 ALDH7A1 NM_001182.4(ALDH7A1): c.355G> A (p.Asp119Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 125919662: 125919662
244 ALDH7A1 NM_001182.4(ALDH7A1): c.686C> T (p.Ala229Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 126575429: 126575429
245 ALDH7A1 NM_001182.4(ALDH7A1): c.686C> T (p.Ala229Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 125911121: 125911121
246 ALDH7A1 NM_001182.4(ALDH7A1): c.246+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs759910341 GRCh38 Chromosome 5, 126593345: 126593345
247 ALDH7A1 NM_001182.4(ALDH7A1): c.246+6A> T single nucleotide variant Conflicting interpretations of pathogenicity rs759910341 GRCh37 Chromosome 5, 125929037: 125929037
248 ALDH7A1 NM_001182.4(ALDH7A1): c.1520A> C (p.Glu507Ala) single nucleotide variant Uncertain significance rs80049945 GRCh38 Chromosome 5, 126546369: 126546369
249 ALDH7A1 NM_001182.4(ALDH7A1): c.1520A> C (p.Glu507Ala) single nucleotide variant Uncertain significance rs80049945 GRCh37 Chromosome 5, 125882061: 125882061
250 ALDH7A1 NM_001182.4(ALDH7A1): c.952G> C (p.Ala318Pro) single nucleotide variant Uncertain significance rs936151635 GRCh38 Chromosome 5, 126559296: 126559296
251 ALDH7A1 NM_001182.4(ALDH7A1): c.952G> C (p.Ala318Pro) single nucleotide variant Uncertain significance rs936151635 GRCh37 Chromosome 5, 125894988: 125894988
252 ALDH7A1 NM_001182.4(ALDH7A1): c.154G> C (p.Glu52Gln) single nucleotide variant Uncertain significance rs765562932 GRCh37 Chromosome 5, 125930737: 125930737
253 ALDH7A1 NM_001182.4(ALDH7A1): c.154G> C (p.Glu52Gln) single nucleotide variant Uncertain significance rs765562932 GRCh38 Chromosome 5, 126595045: 126595045
254 ALDH7A1 NM_001182.4(ALDH7A1): c.192+3A> T single nucleotide variant Likely pathogenic rs773814169 GRCh38 Chromosome 5, 126595004: 126595004
255 ALDH7A1 NM_001182.4(ALDH7A1): c.882G> C (p.Leu294=) single nucleotide variant Likely benign rs751053781 GRCh38 Chromosome 5, 126561114: 126561114
256 ALDH7A1 NM_001182.4(ALDH7A1): c.882G> C (p.Leu294=) single nucleotide variant Likely benign rs751053781 GRCh37 Chromosome 5, 125896806: 125896806
257 ALDH7A1 NM_001182.4(ALDH7A1): c.796C> T (p.Arg266Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 125904026: 125904026
258 ALDH7A1 NM_001182.4(ALDH7A1): c.796C> T (p.Arg266Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 126568334: 126568334
259 ALDH7A1 NM_001182.4(ALDH7A1): c.532_542delCTGATTGAGCA (p.Leu178Valfs) deletion Pathogenic rs765119568 GRCh37 Chromosome 5, 125912879: 125912889
260 ALDH7A1 NM_001182.4(ALDH7A1): c.532_542delCTGATTGAGCA (p.Leu178Valfs) deletion Pathogenic rs765119568 GRCh38 Chromosome 5, 126577187: 126577197
261 ALDH7A1 NM_001182.4(ALDH7A1): c.423G> C (p.Val141=) single nucleotide variant Likely benign rs199653162 GRCh37 Chromosome 5, 125918637: 125918637
262 ALDH7A1 NM_001182.4(ALDH7A1): c.423G> C (p.Val141=) single nucleotide variant Likely benign rs199653162 GRCh38 Chromosome 5, 126582945: 126582945
263 ALDH7A1 NM_001182.4(ALDH7A1): c.192+3A> T single nucleotide variant Likely pathogenic rs773814169 GRCh37 Chromosome 5, 125930696: 125930696
264 ALDH7A1 NM_001182.4(ALDH7A1): c.871+8T> G single nucleotide variant Likely benign rs750152298 GRCh37 Chromosome 5, 125903943: 125903943
265 ALDH7A1 NM_001182.4(ALDH7A1): c.871+8T> G single nucleotide variant Likely benign rs750152298 GRCh38 Chromosome 5, 126568251: 126568251
266 ALDH7A1 NM_001182.4(ALDH7A1): c.553G> T (p.Val185Leu) single nucleotide variant Uncertain significance rs61757685 GRCh37 Chromosome 5, 125912868: 125912868
267 ALDH7A1 NM_001182.4(ALDH7A1): c.553G> T (p.Val185Leu) single nucleotide variant Uncertain significance rs61757685 GRCh38 Chromosome 5, 126577176: 126577176
268 ALDH7A1 NM_001182.4(ALDH7A1): c.417C> T (p.Ile139=) single nucleotide variant Likely benign rs772201739 GRCh37 Chromosome 5, 125918643: 125918643
269 ALDH7A1 NM_001182.4(ALDH7A1): c.417C> T (p.Ile139=) single nucleotide variant Likely benign rs772201739 GRCh38 Chromosome 5, 126582951: 126582951
270 ALDH7A1 NM_001182.4(ALDH7A1): c.852G> C (p.Leu284=) single nucleotide variant Likely benign rs747107627 GRCh37 Chromosome 5, 125903970: 125903970
271 ALDH7A1 NM_001182.4(ALDH7A1): c.852G> C (p.Leu284=) single nucleotide variant Likely benign rs747107627 GRCh38 Chromosome 5, 126568278: 126568278

Expression for Epilepsy, Pyridoxine-Dependent

Search GEO for disease gene expression data for Epilepsy, Pyridoxine-Dependent.

Pathways for Epilepsy, Pyridoxine-Dependent

Pathways related to Epilepsy, Pyridoxine-Dependent according to KEGG:

37 (showing 1, show less)
# Name Kegg Source Accession
1 Lysine degradation hsa00310

GO Terms for Epilepsy, Pyridoxine-Dependent

Sources for Epilepsy, Pyridoxine-Dependent

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