Vas Deferens, Congenital Bilateral Aplasia of disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: VSD002 MIFTS: 35	Vas Deferens, Congenital Bilateral Aplasia of Categories: Genetic diseases, Rare diseases, Reproductive diseases, Fetal diseases
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Aliases & Classifications for Vas Deferens, Congenital Bilateral Aplasia of

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 autosomal recessive inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of genital organs

Other congenital malformations of male genital organs

Other congenital malformations of vas deferens, epididymis, seminal vesicles and prostate

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

MedGen ⁴² C0403814 CN032726

KEGG ³⁷ H01033

SNOMED-CT via HPO ⁶⁹ 258211005 425558002 48188009 more

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Summaries for Vas Deferens, Congenital Bilateral Aplasia of

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 and prostate, and related phenotypes are abnormal renal morphology and oligospermia

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

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

#	Related Disease	Score	Top Affiliating Genes
1	vas deferens, congenital bilateral aplasia of, x-linked	32.1	ADGRG2 LOC101928415
2	cystic fibrosis	10.6
3	renal hypodysplasia/aplasia 1	10.2
4	azoospermia	9.9
5	infertility	9.9

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

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Symptoms & Phenotypes for Vas Deferens, Congenital Bilateral Aplasia of

Symptoms via clinical synopsis from OMIM:

⁵⁷

GenitourinaryInternal GenitaliaMale:
vas deferens aplasia
azoospermia

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	abnormal renal morphology ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0012210
2	oligospermia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000798
3	male infertility ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003251
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

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

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

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

⁴¹

Testes, Prostate

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Publications for Vas Deferens, Congenital Bilateral Aplasia of

Articles related to Vas Deferens, Congenital Bilateral Aplasia of:

(show all 42)

#	Title	Authors	Year
1	Molecular screening of CFTR gene in Egyptian patients with congenital bilateral absence of the vas deferens: a preliminary study. ( 26989879 )	Fathy M....Mehaney D.A.	2016
2	The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens. ( 24551851 )	Du Q....Wu B.	2014
3	[Detection of the mutation of all the exons of the CFTR gene in Chinese men with congenital bilateral absence of the vas deferens]. ( 23214250 )	Du Q....Wu B.	2012
4	The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. ( 22842702 )	Ni W.H....Huang X.F.	2012
5	CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. ( 22081250 )	Yu J....Li Z.	2012
6	Variants in CFTR untranslated regions are associated with congenital bilateral absence of the vas deferens. ( 20972246 )	Lopez E....Taulan M.	2011
7	Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. ( 21520337 )	Steiner B....Truninger K.	2011
8	Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. ( 20100616 )	Havasi V....Sorscher E.J.	2010
9	Activated caspases in thawed epididymal and testicular spermatozoa of patients with congenital bilateral absence of the vas deferens and intracytoplasmic sperm injection outcome. ( 18774565 )	Brugnon F....Grizard G.	2009
10	Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens. ( 19095672 )	Lee C.H....Chiang H.S.	2009
11	The role of the F508C mutation in congenital bilateral absence of the vas deferens. ( 19092444 )	Havasi V....Kammesheidt A.	2008
12	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 )	Ratbi I....Girodon E.	2007
13	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 )	Bareil C....des Georges M.	2007
14	Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens. ( 17314234 )	Radpour R....Dizaj A.V.	2007
15	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 )	Radpour R....Mollamohamadi S.	2006
16	Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens. ( 16973827 )	Radpour R....Mollamohamadi S.	2006
17	Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. ( 15905293 )	Wu C.C....Wong L.J.	2005
18	Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens. ( 16272798 )	Uzun S....Wagner K.	2005
19	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 )	Grangeia A....Barros A.	2005
20	Mutations in CFTR gene and clinical correlation in Argentine patients with congenital bilateral absence of the vas deferens. ( 15239534 )	Levy E.M....Pivetta O.H.	2004
21	Airway inflammation and infection in congenital bilateral absence of the vas deferens. ( 14551163 )	Gilljam M....Tullis D.E.	2004
22	Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens. ( 14747162 )	Wu C.C....Chiang H.S.	2004
23	Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. ( 15070876 )	DayangaAs D....DAPrk T.	2004
24	CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. ( 15463840 )	Anzai C....Yoshimura K.	2003
25	Birth after intracytoplasmic injection of epididymal sperm from a man with congenital bilateral absence of the vas deferens who had a robertsonian translocation. ( 12801574 )	Drouineaud V....Jimenez C.	2003
26	Analysis by mass spectrometry of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. ( 12151438 )	Wang Z....Milunsky A.	2002
27	Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. ( 11298840 )	Attardo T....Calogero A.E.	2001
28	Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. ( 11157821 )	McCallum T....Oates R.	2001
29	Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling. ( 11119745 )	Daudin M....Mieusset R.	2000
30	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 )	Mickle J.E....Cutting G.R.	2000
31	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 )	Lissens W....Liebaers I.	1999
32	Correlation between genito-urinary anomalies, semen analysis and CFTR genotype in patients with congenital bilateral absence of the vas deferens. ( 9598638 )	de la Taille A....Mazeman E.	1998
33	Nasal potential difference in congenital bilateral absence of the vas deferens. ( 9731023 )	Pradal U....Mastella G.	1998
34	The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland. ( 9043501 )	Donat R....Hargreave T.B.	1997
35	Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients. ( 9150843 )	Bienvenu T....Beldjord C.	1997
36	Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype. ( 8557264 )	Dumur V....Roussel P.	1996
37	Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens. ( 8697849 )	Colin A.A....Amos J.A.	1996
38	Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. ( 9239681 )	De Braekeleer M....FAcrec C.	1996
39	Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities. ( 9147111 )	Lissens W....Liebaers I.	1996
40	Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. ( 8556303 )	Costes B....Goossens M.	1995
41	Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens. ( 7505692 )	Osborne L.R....Santis G.K.	1993
42	Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality. ( 8343799 )	Oates R.D....Amos J.A.	1993

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Genes for Vas Deferens, Congenital Bilateral Aplasia of

Genes/enhancers related to Vas Deferens, Congenital Bilateral Aplasia of (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CFTR	Cystic Fibrosis Transmembrane Conductance Regulator	Protein Coding	1696.47	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Risk factor ⁶ Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	7739684 7539210 15905293 (more) 7532150 17448246 16714368 15463840 10645285 9620832 9150843 11119745 9239681 15379964 17673436 12794695 15070876 8766513 10050655 10653141 15705389 9678705 17314234 16973827 14551163 9731023 9043501 9147111 7505692 10464623 9328474 10651488 18304229 8697849 17329263 8343799 9598638 18567645 15705292 15333598 11298840 10200050 18769034 14747162 9196095 9363704 16840743 7551394 17519339 8557264 7529962 17662673 17394391 10923036 16481891 7516233 11899543 19893581 16272798 15580565 15239534 12660625 8671256 8556303 19737283 19298730 18796364 12810986 11446679 7545847 19095672 15482777 15005497 12801574 12661515 11788091 11574497 11097434 9692018 19852264 17127107 17234733 10235038 9591500 18050608 8829643 7513294 10771546 10376575 9736775 15287992 12955726 12919133 11247407 9630075 10875876 9067761
1	CFTR::GH07J117478	TSS distance: +14.5kb Elite enhancer			Curated enhancer-disease association ²³ ( 27569544 )	7540587 10200050 10204861
2	ADGRG2	Adhesion G Protein-Coupled Receptor G2	Protein Coding	768.77	Pathogenic ⁶ Causative germline mutation ⁵⁹ GeneCards inferred via : Variants (show sections)
3	LOC101928415	Uncharacterized LOC101928415	RNA Gene	8.77	GeneCards inferred via : Variants (show sections)

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Variations for Vas Deferens, Congenital Bilateral Aplasia of

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 all 37)

#	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.1210-12_1210-6T[5]	short repeat	risk factor	rs727504486	GRCh37	Chromosome 7, 117188683: 117188689
4	CFTR	NM_000492.3(CFTR): c.1210-12_1210-6T[5]	short repeat	risk factor	rs727504486	GRCh38	Chromosome 7, 117548629: 117548635
5	CFTR	NM_000492.3(CFTR): c.3095A> G (p.Tyr1032Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs144055758	GRCh37	Chromosome 7, 117250679: 117250679
6	CFTR	NM_000492.3(CFTR): c.3095A> G (p.Tyr1032Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs144055758	GRCh38	Chromosome 7, 117610625: 117610625
7	CFTR	NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs78769542	GRCh37	Chromosome 7, 117251704: 117251704
8	CFTR	NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs78769542	GRCh38	Chromosome 7, 117611650: 117611650
9	CFTR	NM_000492.3(CFTR): c.3454G> C (p.Asp1152His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs75541969	GRCh37	Chromosome 7, 117254753: 117254753
10	CFTR	NM_000492.3(CFTR): c.3454G> C (p.Asp1152His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs75541969	GRCh38	Chromosome 7, 117614699: 117614699
11	CFTR	NM_000492.3(CFTR): c.4056G> T (p.Gln1352His)	single nucleotide variant	Likely pathogenic	rs113857788	GRCh37	Chromosome 7, 117304834: 117304834
12	CFTR	NM_000492.3(CFTR): c.4056G> T (p.Gln1352His)	single nucleotide variant	Likely pathogenic	rs113857788	GRCh38	Chromosome 7, 117664780: 117664780
13	CFTR	NM_000492.3(CFTR): c.1007T> A (p.Ile336Lys)	single nucleotide variant	Pathogenic	rs397508139	GRCh37	Chromosome 7, 117180291: 117180291
14	CFTR	NM_000492.3(CFTR): c.1007T> A (p.Ile336Lys)	single nucleotide variant	Pathogenic	rs397508139	GRCh38	Chromosome 7, 117540237: 117540237
15	CFTR	NM_000492.3(CFTR): c.2856G> C (p.Met952Ile)	single nucleotide variant	Pathogenic	rs151048781	GRCh37	Chromosome 7, 117243784: 117243784
16	CFTR	NM_000492.3(CFTR): c.2856G> C (p.Met952Ile)	single nucleotide variant	Pathogenic	rs151048781	GRCh38	Chromosome 7, 117603730: 117603730
17	CFTR	NM_000492.3(CFTR): c.2936A> C (p.Asp979Ala)	single nucleotide variant	Likely pathogenic	rs397508462	GRCh37	Chromosome 7, 117246755: 117246755
18	CFTR	NM_000492.3(CFTR): c.2936A> C (p.Asp979Ala)	single nucleotide variant	Likely pathogenic	rs397508462	GRCh38	Chromosome 7, 117606701: 117606701
19	CFTR	NM_000492.3(CFTR): c.2939T> A (p.Ile980Lys)	single nucleotide variant	Likely pathogenic	rs397508463	GRCh37	Chromosome 7, 117246758: 117246758
20	CFTR	NM_000492.3(CFTR): c.2939T> A (p.Ile980Lys)	single nucleotide variant	Likely pathogenic	rs397508463	GRCh38	Chromosome 7, 117606704: 117606704
21	CFTR	NM_000492.3(CFTR): c.3208C> T (p.Arg1070Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs202179988	GRCh37	Chromosome 7, 117251703: 117251703
22	CFTR	NM_000492.3(CFTR): c.3208C> T (p.Arg1070Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs202179988	GRCh38	Chromosome 7, 117611649: 117611649
23	CFTR	NM_000492.3(CFTR): c.476T> C (p.Leu159Ser)	single nucleotide variant	Likely pathogenic	rs397508727	GRCh37	Chromosome 7, 117171155: 117171155
24	CFTR	NM_000492.3(CFTR): c.476T> C (p.Leu159Ser)	single nucleotide variant	Likely pathogenic	rs397508727	GRCh38	Chromosome 7, 117531101: 117531101
25	CFTR	NM_000492.3(CFTR): c.1210-11T> G	single nucleotide variant	Conflicting interpretations of pathogenicity, other	rs73715573	GRCh37	Chromosome 7, 117188684: 117188684
26	CFTR	NM_000492.3(CFTR): c.1210-11T> G	single nucleotide variant	Conflicting interpretations of pathogenicity, other	rs73715573	GRCh38	Chromosome 7, 117548630: 117548630
27	CFTR	NM_000492.3(CFTR): c.220C> T (p.Arg74Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115545701	GRCh37	Chromosome 7, 117149143: 117149143
28	CFTR	NM_000492.3(CFTR): c.220C> T (p.Arg74Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115545701	GRCh38	Chromosome 7, 117509089: 117509089
29	ADGRG2	NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs)	deletion	Pathogenic	rs879255538	GRCh37	Chromosome X, 19013038: 19013038
30	ADGRG2	NM_001079858.2(ADGRG2): c.2845delT (p.Cys949Alafs)	deletion	Pathogenic	rs879255538	GRCh38	Chromosome X, 18994920: 18994920
31	ADGRG2	NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs)	indel	Pathogenic	rs879255539	GRCh37	Chromosome X, 19021188: 19021192
32	ADGRG2	NM_001079858.2(ADGRG2): c.2002_2006delCTGTGinsAGA (p.Leu668Argfs)	indel	Pathogenic	rs879255539	GRCh38	Chromosome X, 19003070: 19003074
33	ADGRG2	NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs)	duplication	Pathogenic	rs879255540	GRCh37	Chromosome X, 19026119: 19026119
34	ADGRG2	NM_001079858.2(ADGRG2): c.1545dupT (p.Glu516Terfs)	duplication	Pathogenic	rs879255540	GRCh38	Chromosome X, 19008001: 19008001
35		46;XY;inv(10)(q11.2q24)dn	inversion	Pathogenic
36	CFTR	NM_000492.3(CFTR): c.3139+1delG	deletion	Likely pathogenic	rs146795445	GRCh38	Chromosome 7, 117610670: 117610670
37	CFTR	NM_000492.3(CFTR): c.3139+1delG	deletion	Likely pathogenic	rs146795445	GRCh37	Chromosome 7, 117250724: 117250724

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

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

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

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

Sources

Sources for Vas Deferens, Congenital Bilateral Aplasia of

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

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¹² Disease Ontology

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¹⁶ DrugBank

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

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²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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⁷⁶ Wikipedia