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CBAVD
MCID: VSD002
MIFTS: 37

Vas Deferens, Congenital Bilateral Aplasia of (CBAVD)

Categories: Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Vas Deferens, Congenital Bilateral Aplasia of

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MalaCards integrated aliases for Vas Deferens, Congenital Bilateral Aplasia of:

Name: Vas Deferens, Congenital Bilateral Aplasia of 57 76
Congenital Bilateral Absence of the Vas Deferens 53 25 75 29 6
Congenital Bilateral Absence of Vas Deferens 57 25 59 37 13
Cbavd 57 53 25 75 55
Cavd 57 53 25
Congenital Bilateral Aplasia of Vas Deferens 53 59
Congenital Bilateral Agenesis of Vas Deferens 59
Vas Deferens, Congenital Bilateral Absence 40
Congenital Absence of Vas Deferens 25
Congenital Aplasia of Vas Deferens 25
Absence of Vas Deferens 25
Absent Vas Deferens 6
Absent Vasa 25

Characteristics:

Orphanet epidemiological data:

59
congenital bilateral absence of vas deferens
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
vas deferens, congenital bilateral aplasia of:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare infertility disorders
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 277180
Orphanet 59 ORPHA48
MESH via Orphanet 45 C535984
UMLS via Orphanet 74 C0403814
ICD10 via Orphanet 34 Q55.4
KEGG 37 H01033
Sources

Summaries for Vas Deferens, Congenital Bilateral Aplasia of

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NIH Rare Diseases : 53 Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance. This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Many men with CBAVD do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.

MalaCards based summary : Vas Deferens, Congenital Bilateral Aplasia of, also known as congenital bilateral absence of the vas deferens, is related to vas deferens, congenital bilateral aplasia of, x-linked and cystic fibrosis. An important gene associated with Vas Deferens, Congenital Bilateral Aplasia of is CFTR (Cystic Fibrosis Transmembrane Conductance Regulator), and among its related pathways/superpathways is ABC transporters. Affiliated tissues include testes, prostate and kidney, and related phenotypes are oligospermia and male infertility

Genetics Home Reference : 25 Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance.

OMIM : 57 Congenital bilateral absence of the vas deferens is found in more than 25% of men with obstructive azoospermia, involving a complete or partial defect of the Wolffian duct derivatives. In 80% of men with CBAVD, mutations are identified in the CFTR gene (summary by Patat et al., 2016). (277180)

UniProtKB/Swiss-Prot : 75 Congenital bilateral absence of the vas deferens: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens.

Wikipedia : 76 Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive... more...

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Related Diseases for Vas Deferens, Congenital Bilateral Aplasia of

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Diseases related to Vas Deferens, Congenital Bilateral Aplasia of via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 vas deferens, congenital bilateral aplasia of, x-linked 33.5 ADGRG2 LOC101928415
2 cystic fibrosis 10.5
3 azoospermia 10.5
4 hypogonadotropic hypogonadism 10.3
5 renal hypodysplasia/aplasia 1 10.2
6 cryptorchidism, unilateral or bilateral 10.2
7 renal hypodysplasia/aplasia 3 10.2
8 pancreatitis 10.2
9 male infertility 10.2
10 infertility 10.2
11 renal dysplasia, cystic 10.2
12 multicystic dysplastic kidney 10.2
13 spermatocele 10.1

Graphical network of the top 20 diseases related to Vas Deferens, Congenital Bilateral Aplasia of:



Diseases related to Vas Deferens, Congenital Bilateral Aplasia of
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Symptoms & Phenotypes for Vas Deferens, Congenital Bilateral Aplasia of

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Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
azoospermia
vas deferens aplasia


Clinical features from OMIM:

277180

Human phenotypes related to Vas Deferens, Congenital Bilateral Aplasia of:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 oligospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000798
2 male infertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0003251
3 abnormal renal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012210
4 obstructive azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011962
5 absent vas deferens 59 32 hallmark (90%) Very frequent (99-80%) HP:0012873
6 azoospermia 32 HP:0000027
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Drugs & Therapeutics for Vas Deferens, Congenital Bilateral Aplasia of

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Search Clinical Trials , NIH Clinical Center for Vas Deferens, Congenital Bilateral Aplasia of

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Genetic Tests for Vas Deferens, Congenital Bilateral Aplasia of

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Genetic tests related to Vas Deferens, Congenital Bilateral Aplasia of:

# Genetic test Affiliating Genes
1 Congenital Bilateral Absence of the Vas Deferens 29 CFTR
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Anatomical Context for Vas Deferens, Congenital Bilateral Aplasia of

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MalaCards organs/tissues related to Vas Deferens, Congenital Bilateral Aplasia of:

41
Testes, Prostate, Kidney
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Publications for Vas Deferens, Congenital Bilateral Aplasia of

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Articles related to Vas Deferens, Congenital Bilateral Aplasia of:

(show top 50) (show all 69)
# Title Authors Year
1
The detection and significance of cystic fibrosis transmembrane conductance regulator gene promoter mutations in Chinese patients with congenital bilateral absence of the vas deferens. ( 29864494 )
2018
2
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. ( 29216686 )
2018
3
An infertile patient with Y chromosome b1/b3 deletion presenting with congenital bilateral absence of the vas deferens with normal spermatogenesis. ( 29662826 )
2018
4
Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study. ( 26989879 )
2016
5
Congenital bilateral absence of the vas deferens: the impact of spermatogenesis quality on intracytoplasmic sperm injection outcomes in 108 men. ( 25755137 )
2015
6
Relationship of paternal age with outcome of percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection, in cases of congenital bilateral absence of the vas deferens. ( 26144574 )
2015
7
The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens. ( 24551851 )
2014
8
Re: Lu et al.: Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of the vas deferens and other acquired obstructive azoospermia (Urology 2013;82:824-828). ( 24581531 )
2014
9
Cystic fibrosis transmembrane regulator mutation and congenital bilateral absence of the vas deferens: a bad combination for successful intracytoplasmic sperm injection outcomes. ( 24636394 )
2014
10
Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens. ( 25170420 )
2014
11
[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens]. ( 23214250 )
2012
12
The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. ( 22842702 )
2012
13
CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. ( 22081250 )
2012
14
Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens. ( 20972246 )
2011
15
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. ( 21520337 )
2011
16
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. ( 20100616 )
2010
17
Activated caspases in thawed epididymal and testicular spermatozoa of patients with congenital bilateral absence of the vas deferens and intracytoplasmic sperm injection outcome. ( 18774565 )
2009
18
Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens. ( 19095672 )
2009
19
The role of the F508C mutation in congenital bilateral absence of the vas deferens. ( 19092444 )
2008
20
Congenital bilateral absence of the vas deferens. ( 18558214 )
2008
21
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. ( 17329263 )
2007
22
Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. ( 17975025 )
2007
23
Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. ( 17314234 )
2007
24
Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens. ( 16714368 )
2006
25
Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens. ( 16973827 )
2006
26
Congenital bilateral absence of the vas deferens and recombination at CFTR. ( 16639412 )
2006
27
Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. ( 15905293 )
2005
28
Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. ( 16272798 )
2005
29
A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens. ( 15705389 )
2005
30
Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens. ( 15239534 )
2004
31
Airway inflammation and infection in congenital bilateral absence of the vas deferens. ( 14551163 )
2004
32
Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. ( 14747162 )
2004
33
Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. ( 15070876 )
2004
34
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens. ( 15357566 )
2004
35
Sperm cryopreservation and in vitro fertilization/intracytoplasmic sperm injection in men with congenital bilateral absence of the vas deferens: a success story. ( 15533379 )
2004
36
The presence of vasal vessels in men with congenital bilateral absence of the vas deferens. ( 15540760 )
2004
37
CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. ( 15463840 )
2003
38
Birth after intracytoplasmic injection of epididymal sperm from a man with congenital bilateral absence of the vas deferens who had a robertsonian translocation. ( 12801574 )
2003
39
Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. ( 12151438 )
2002
40
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. ( 11298840 )
2001
41
Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. ( 11157821 )
2001
42
Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. ( 11119745 )
2000
43
Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels. ( 10762539 )
2000
44
Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection. ( 10655317 )
2000
45
Homozygosity of the cystic fibrosis (CF) gene allele IVS8-(5T) in a Tamil male with congenital bilateral absence of the vas deferens (CBAVD). ( 10871656 )
2000
46
Two novel missense mutations (R766M and R792G) in exon 13 of the CFTR gene in a patient with congenital bilateral absence of the vas deferens. ( 10878476 )
2000
47
Percutaneous epididymal sperm aspiration in a man with congenital bilateral absence of the vas deferens undergoing an assisted reproduction program. ( 11109345 )
2000
48
Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens. ( 10050655 )
1999
49
The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data. ( 10099982 )
1999
50
Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens. ( 9598638 )
1998
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Variations for Vas Deferens, Congenital Bilateral Aplasia of

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UniProtKB/Swiss-Prot genetic disease variations for Vas Deferens, Congenital Bilateral Aplasia of:

75 (show all 20)
# Symbol AA change Variation ID SNP ID
1 CFTR p.Ser50Tyr VAR_000107 rs397508220
2 CFTR p.Arg74Trp VAR_000110 rs115545701
3 CFTR p.Pro111Leu VAR_000120 rs140502196
4 CFTR p.Arg117His VAR_000122 rs78655421
5 CFTR p.Gly149Arg VAR_000129 rs397508718
6 CFTR p.Glu193Lys VAR_000132 rs397508759
7 CFTR p.Leu206Trp VAR_000136 rs121908752
8 CFTR p.Met244Lys VAR_000138 rs397508790
9 CFTR p.Arg258Gly VAR_000139 rs191456345
10 CFTR p.Arg334Trp VAR_000148 rs121909011
11 CFTR p.Asp513Gly VAR_000173 rs397508225
12 CFTR p.Gly544Val VAR_000175 rs397508241
13 CFTR p.Arg766Met VAR_000215 rs397508363
14 CFTR p.Arg792Gly VAR_000216 rs145449046
15 CFTR p.Ala800Gly VAR_000217 rs397508373
16 CFTR p.Ile807Met VAR_000218 rs1800103
17 CFTR p.Asp1152His VAR_000251 rs75541969
18 CFTR p.Asp1270Asn VAR_000260 rs11971167
19 CFTR p.Ala1364Val VAR_000269 rs397508670
20 CFTR p.Arg1070Trp VAR_011564 rs202179988

ClinVar genetic disease variations for Vas Deferens, Congenital Bilateral Aplasia of:

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
2 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh38 Chromosome 7, 117530975: 117530975
3 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh37 Chromosome 7, 117282582: 117282582
4 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh38 Chromosome 7, 117642528: 117642528
5 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh37 Chromosome 7, 117230454: 117230454
6 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh38 Chromosome 7, 117590400: 117590400
7 CFTR NM_000492.3(CFTR): c.2002C> T (p.Arg668Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800100 GRCh37 Chromosome 7, 117232223: 117232223
8 CFTR NM_000492.3(CFTR): c.2002C> T (p.Arg668Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800100 GRCh38 Chromosome 7, 117592169: 117592169
9 CFTR NM_000492.3(CFTR): c.2421A> G (p.Ile807Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1800103 GRCh37 Chromosome 7, 117232642: 117232642
10 CFTR NM_000492.3(CFTR): c.2421A> G (p.Ile807Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1800103 GRCh38 Chromosome 7, 117592588: 117592588
11 CFTR NM_000492.3(CFTR): c.2813T> G (p.Val938Gly) single nucleotide variant Uncertain significance rs193922511 GRCh37 Chromosome 7, 117243741: 117243741
12 CFTR NM_000492.3(CFTR): c.2813T> G (p.Val938Gly) single nucleotide variant Uncertain significance rs193922511 GRCh38 Chromosome 7, 117603687: 117603687
13 CFTR NM_000492.3(CFTR): c.3095A> G (p.Tyr1032Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144055758 GRCh37 Chromosome 7, 117250679: 117250679
14 CFTR NM_000492.3(CFTR): c.3095A> G (p.Tyr1032Cys) single nucleotide variant Pathogenic/Likely pathogenic rs144055758 GRCh38 Chromosome 7, 117610625: 117610625
15 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant drug response rs78769542 GRCh37 Chromosome 7, 117251704: 117251704
16 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant drug response rs78769542 GRCh38 Chromosome 7, 117611650: 117611650
17 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant drug response rs75541969 GRCh37 Chromosome 7, 117254753: 117254753
18 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant drug response rs75541969 GRCh38 Chromosome 7, 117614699: 117614699
19 CFTR NM_000492.3(CFTR): c.4056G> T (p.Gln1352His) single nucleotide variant Likely pathogenic rs113857788 GRCh37 Chromosome 7, 117304834: 117304834
20 CFTR NM_000492.3(CFTR): c.4056G> T (p.Gln1352His) single nucleotide variant Likely pathogenic rs113857788 GRCh38 Chromosome 7, 117664780: 117664780
21 CFTR NM_000492.3(CFTR): c.91C> T (p.Arg31Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800073 GRCh37 Chromosome 7, 117144344: 117144344
22 CFTR NM_000492.3(CFTR): c.91C> T (p.Arg31Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800073 GRCh38 Chromosome 7, 117504290: 117504290
23 CFTR NM_000492.3(CFTR): c.1007T> A (p.Ile336Lys) single nucleotide variant Pathogenic rs397508139 GRCh37 Chromosome 7, 117180291: 117180291
24 CFTR NM_000492.3(CFTR): c.1007T> A (p.Ile336Lys) single nucleotide variant Pathogenic rs397508139 GRCh38 Chromosome 7, 117540237: 117540237
25 CFTR NM_000492.3(CFTR): c.2856G> C (p.Met952Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs151048781 GRCh37 Chromosome 7, 117243784: 117243784
26 CFTR NM_000492.3(CFTR): c.2856G> C (p.Met952Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs151048781 GRCh38 Chromosome 7, 117603730: 117603730
27 CFTR NM_000492.3(CFTR): c.2936A> C (p.Asp979Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397508462 GRCh37 Chromosome 7, 117246755: 117246755
28 CFTR NM_000492.3(CFTR): c.2936A> C (p.Asp979Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397508462 GRCh38 Chromosome 7, 117606701: 117606701
29 CFTR NM_000492.3(CFTR): c.2939T> A (p.Ile980Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs397508463 GRCh37 Chromosome 7, 117246758: 117246758
30 CFTR NM_000492.3(CFTR): c.2939T> A (p.Ile980Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs397508463 GRCh38 Chromosome 7, 117606704: 117606704
31 CFTR NM_000492.3(CFTR): c.3208C> T (p.Arg1070Trp) single nucleotide variant drug response rs202179988 GRCh37 Chromosome 7, 117251703: 117251703
32 CFTR NM_000492.3(CFTR): c.3208C> T (p.Arg1070Trp) single nucleotide variant drug response rs202179988 GRCh38 Chromosome 7, 117611649: 117611649
33 CFTR NM_000492.3(CFTR): c.476T> C (p.Leu159Ser) single nucleotide variant Likely pathogenic rs397508727 GRCh37 Chromosome 7, 117171155: 117171155
34 CFTR NM_000492.3(CFTR): c.476T> C (p.Leu159Ser) single nucleotide variant Likely pathogenic rs397508727 GRCh38 Chromosome 7, 117531101: 117531101
35 CFTR NM_000492.3(CFTR): c.509G> A (p.Arg170His) single nucleotide variant Conflicting interpretations of pathogenicity rs1800079 GRCh37 Chromosome 7, 117174349: 117174349
36 CFTR NM_000492.3(CFTR): c.509G> A (p.Arg170His) single nucleotide variant Conflicting interpretations of pathogenicity rs1800079 GRCh38 Chromosome 7, 117534295: 117534295
37 CFTR NM_000492.3(CFTR): c.772A> G (p.Arg258Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs191456345 GRCh37 Chromosome 7, 117176630: 117176630
38 CFTR NM_000492.3(CFTR): c.772A> G (p.Arg258Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs191456345 GRCh38 Chromosome 7, 117536576: 117536576
39 CFTR NM_000492.3(CFTR): c.1210-11T> G single nucleotide variant Conflicting interpretations of pathogenicity, other rs73715573 GRCh38 Chromosome 7, 117548630: 117548630
40 CFTR NM_000492.3(CFTR): c.1210-11T> G single nucleotide variant Conflicting interpretations of pathogenicity, other rs73715573 GRCh37 Chromosome 7, 117188684: 117188684
41 CFTR NM_000492.3(CFTR): c.220C> T (p.Arg74Trp) single nucleotide variant drug response rs115545701 GRCh37 Chromosome 7, 117149143: 117149143
42 CFTR NM_000492.3(CFTR): c.220C> T (p.Arg74Trp) single nucleotide variant drug response rs115545701 GRCh38 Chromosome 7, 117509089: 117509089
43 CFTR NM_000492.3(CFTR): c.1210-12T[5] short repeat risk factor rs1805177 GRCh37 Chromosome 7, 117188683: 117188683
44 CFTR NM_000492.3(CFTR): c.1210-12T[5] short repeat risk factor rs1805177 GRCh38 Chromosome 7, 117548629: 117548629
45 ADGRG2 NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs) deletion Pathogenic rs879255538 GRCh37 Chromosome X, 19013038: 19013038
46 ADGRG2 NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs) deletion Pathogenic rs879255538 GRCh38 Chromosome X, 18994920: 18994920
47 ADGRG2 NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs) indel Pathogenic rs879255539 GRCh37 Chromosome X, 19021188: 19021192
48 ADGRG2 NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs) indel Pathogenic rs879255539 GRCh38 Chromosome X, 19003070: 19003074
49 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs879255540 GRCh37 Chromosome X, 19026119: 19026119
50 ADGRG2 NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs) duplication Pathogenic rs879255540 GRCh38 Chromosome X, 19008001: 19008001

Copy number variations for Vas Deferens, Congenital Bilateral Aplasia of from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 218756 7 116907252 117095954 Deletion CFTR Congenital bilateral absence of the vas deferens
2 218760 7 116907252 117095954 Genomic rearrangement CFTR Congenital bilateral absence of the vas deferens
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Expression for Vas Deferens, Congenital Bilateral Aplasia of

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Search GEO for disease gene expression data for Vas Deferens, Congenital Bilateral Aplasia of.
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Pathways for Vas Deferens, Congenital Bilateral Aplasia of

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Pathways related to Vas Deferens, Congenital Bilateral Aplasia of according to KEGG:

37
# Name Kegg Source Accession
1 ABC transporters hsa02010
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GO Terms for Vas Deferens, Congenital Bilateral Aplasia of

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Cellular components related to Vas Deferens, Congenital Bilateral Aplasia of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.96 ADGRG2 CFTR
2 apical plasma membrane GO:0016324 8.62 ADGRG2 CFTR
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Sources for Vas Deferens, Congenital Bilateral Aplasia of

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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