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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Asphyxiating Thoracic Dystrophy 3 (C567761)
Parent Node: Diseases (C)
Parent Node: Polydactyly (D017689)
Parent Node: Short rib-polydactyly syndrome, Verma-Naumoff type (C537602)
..Starting node ..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Child Nodes:
Sister Nodes:
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10197

Name:

SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY

Definition:

Alternative IDs:

ParentIDs:

MESH:C537602|MESH:C567761|MESH:D017689

TreeNumbers:

C05.116.099.708.327/C567761/613091 |C05.116.099.708.857/C537602/613091 |C05.660.585.600/613091 |C05.660.585.600.750/C537602/613091 |C08.618.846/C567761/613091 |C16.131.077.350.398/C567761/613091 |C16.131.077.850/C537602/613091 |C16.131.621.585.600/613091 |C16.13

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Respiratory tract disease|Skin disease

Reference:

MedGen: 613091
MeSH: 613091
OMIM: 613091;

Genes: DYNC2H1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0009556	Absent tibia	HP:0040283
3	HP:0010454	Acetabular spurs
4	HP:0001274	Agenesis of corpus callosum	HP:0040283
5	HP:0000062	Ambiguous genitalia	HP:0040283
6	HP:0002023	Anal atresia	HP:0040283
7	HP:0010297	Bifid tongue	HP:0040283
8	HP:0001156	Brachydactyly
9	HP:0002350	Cerebellar cyst	HP:0040283
10	HP:0000175	Cleft palate	HP:0040283
11	HP:0000204	Cleft upper lip	HP:0040283
12	HP:0010579	Cone-shaped epiphysis
13	HP:0010984	Digenic inheritance
14	HP:0000105	Enlarged kidney
15	HP:0002980	Femoral bowing
16	HP:0003038	Fibular hypoplasia	HP:0040283
17	HP:0011802	Hamartoma of tongue	HP:0040283
18	HP:0000888	Horizontal ribs	HP:0040283
19	HP:0003022	Hypoplasia of the ulna	HP:0040283
20	HP:0002566	Intestinal malrotation	HP:0040283
21	HP:0000895	Lateral clavicle hook	HP:0040283
22	HP:0005054	Metaphyseal spurs
23	HP:0003016	Metaphyseal widening
24	HP:0000054	Micropenis	HP:0040283
25	HP:0000113	Polycystic kidney dysplasia
26	HP:0100259	Postaxial polydactyly	HP:0040283
27	HP:0100258	Preaxial polydactyly	HP:0040283
28	HP:0000110	Renal dysplasia
29	HP:0002650	Scoliosis
30	HP:0000773	Short ribs
31	HP:0004322	Short stature
32	HP:0001762	Talipes equinovarus	HP:0040283
33	HP:0005257	Thoracic hypoplasia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001080463.1(DYNC2H1):c.624_625delGTinsAA (p.Phe209Ile)	79659	DYNC2H1	Pathogenic	431905498	RCV000006882;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	102987301	102987302	NM_001080463.1:c.624_625delGTinsAA	NP_001073932.1:p.Phe209Ile	NC_000011.9:g.102987301_102987302delGTinsAA	OMIM Allelic Variant:603297.0010	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.626_654dup29 (p.Glu219Phefs)	79659	DYNC2H1	Pathogenic	-1	RCV000006875;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	102987303	102987331	NM_001080463.1:c.626_654dup29	NP_001073932.1:p.Glu219Phefs		OMIM Allelic Variant:603297.0003,dbVar:nssv3761564,dbVar:nsv1067864	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.988C>T (p.Arg330Cys)	79659	DYNC2H1	Pathogenic	397514637	RCV000033160;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	102988581	102988581	NM_001080463.1:c.988C>T	NP_001073932.1:p.Arg330Cys	NC_000011.9:g.102988581C>T	OMIM Allelic Variant:603297.0019	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.1360+2delT	79659	DYNC2H1	Pathogenic	780539887	RCV000180552;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	102991767	102991767	NM_001080463.1:c.1360+2delT		NC_000011.9:g.102991767delT	-	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.1759C>T (p.Arg587Cys)	79659	DYNC2H1	Pathogenic	137853030	RCV000006879;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	102995926	102995926	NM_001080463.1:c.1759C>T	NP_001073932.1:p.Arg587Cys	NC_000011.9:g.102995926C>T	OMIM Allelic Variant:603297.0007	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.3353delG (p.Ser1118Ilefs)	79659	DYNC2H1	Pathogenic	755338872	RCV000176375;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103025230	103025230	NM_001080463.1:c.3353delG	NP_001073932.1:p.Ser1118Ilefs	NC_000011.9:g.103025230delG	-	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.3719T>C (p.Ile1240Thr)	79659	DYNC2H1	Pathogenic	137853028	RCV000006877;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103026205	103026205	NM_001080463.1:c.3719T>C	NP_001073932.1:p.Ile1240Thr	NC_000011.9:g.103026205T>C	OMIM Allelic Variant:603297.0005	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.4610A>G (p.Gln1537Arg)	79659	DYNC2H1	Pathogenic	137853033	RCV000006884;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103033875	103033875	NM_001080463.1:c.4610A>G	NP_001073932.1:p.Gln1537Arg	NC_000011.9:g.103033875A>G	OMIM Allelic Variant:603297.0012	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.5151+1G>T	79659	DYNC2H1	Pathogenic	431905499	RCV000006883;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103041020	103041020	NM_001080463.1:c.5151+1G>T		NC_000011.9:g.103041020G>T	OMIM Allelic Variant:603297.0011	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.5846delA (p.Glu1949Glyfs)	79659	DYNC2H1	Pathogenic	794727595	RCV000177900;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103047135	103047135	NM_001080463.1:c.5846delA	NP_001073932.1:p.Glu1949Glyfs	NC_000011.9:g.103047135delA	-	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.5959A>G (p.Thr1987Ala)	79659	DYNC2H1	Pathogenic	137853035	RCV000006886;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103048369	103048369	NM_001080463.1:c.5959A>G	NP_001073932.1:p.Thr1987Ala	NC_000011.9:g.103048369A>G	OMIM Allelic Variant:603297.0014	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.5971A>T (p.Met1991Leu)	79659	DYNC2H1	Pathogenic	137853025	RCV000006873;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103048381	103048381	NM_001080463.1:c.5971A>T	NP_001073932.1:p.Met1991Leu	NC_000011.9:g.103048381A>T	OMIM Allelic Variant:603297.0001	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.6614G>A (p.Arg2205His)	79659	DYNC2H1	Pathogenic	137853031	RCV000006880;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103055761	103055761	NM_001080463.1:c.6614G>A	NP_001073932.1:p.Arg2205His	NC_000011.9:g.103055761G>A	OMIM Allelic Variant:603297.0008	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.7382G>T (p.Gly2461Val)	79659	DYNC2H1	Pathogenic	137853034	RCV000006885;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103060490	103060490	NM_001080463.1:c.7382G>T	NP_001073932.1:p.Gly2461Val	NC_000011.9:g.103060490G>T	OMIM Allelic Variant:603297.0013	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.7486C>T (p.Pro2496Ser)	79659	DYNC2H1	Pathogenic	397514636	RCV000033159;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103062294	103062294	NM_001080463.1:c.7486C>T	NP_001073932.1:p.Pro2496Ser	NC_000011.9:g.103062294C>T	OMIM Allelic Variant:603297.0018	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.7985G>A (p.Arg2662Gln)	79659	DYNC2H1	Pathogenic	397514635	RCV000033158;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103070102	103070102	NM_001080463.1:c.7985G>A	NP_001073932.1:p.Arg2662Gln	NC_000011.9:g.103070102G>A	OMIM Allelic Variant:603297.0017	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.8512C>T (p.Arg2838Ter)	79659	DYNC2H1	Pathogenic	137853032	RCV000006881;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103080662	103080662	NM_001080463.1:c.8512C>T	NP_001073932.1:p.Arg2838Ter	NC_000011.9:g.103080662C>T	OMIM Allelic Variant:603297.0009	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.8534delA (p.Asn2845Ilefs)	79659	DYNC2H1	Pathogenic	431905507	RCV000033161;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103080684	103080684	NM_001080463.1:c.8534delA	NP_001073932.1:p.Asn2845Ilefs	NC_000011.9:g.103080684delA	OMIM Allelic Variant:603297.0020	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.8947-1G>T	79659	DYNC2H1	Pathogenic	727503908	RCV000153172;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103091351	103091351	NM_001080463.1:c.8947-1G>T		NC_000011.9:g.103091351G>T	-	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly)	79659	DYNC2H1	Pathogenic	137853027	RCV000006876;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103091449	103091449	NM_001080463.1:c.9044A>G	NP_001073932.1:p.Asp3015Gly	NC_000011.9:g.103091449A>G	OMIM Allelic Variant:603297.0004	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.10063G>T (p.Gly3355Ter)	79659	DYNC2H1	Pathogenic	137853029	RCV000006878;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103116103	103116103	NM_001080463.1:c.10063G>T	NP_001073932.1:p.Gly3355Ter	NC_000011.9:g.103116103G>T	OMIM Allelic Variant:603297.0006	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.10130delT (p.Leu3377Cysfs)	79659	DYNC2H1	Pathogenic	431905500	RCV000006887;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103124080	103124080	NM_001080463.1:c.10130delT	NP_001073932.1:p.Leu3377Cysfs	NC_000011.9:g.103124080delT	OMIM Allelic Variant:603297.0015	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.11284A>G (p.Met3762Val)	79659	DYNC2H1	Pathogenic	137853026	RCV000006874;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103175330	103175330	NM_001080463.1:c.11284A>G	NP_001073932.1:p.Met3762Val	NC_000011.9:g.103175330A>G	OMIM Allelic Variant:603297.0002	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.11702C>G (p.Ser3901Ter)	79659	DYNC2H1	Pathogenic	776315442	RCV000180409;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103187305	103187305	NM_001080463.1:c.11702C>G	NP_001073932.1:p.Ser3901Ter	NC_000011.9:g.103187305C>G	-	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.11747G>A (p.Gly3916Asp)	79659	DYNC2H1	Pathogenic;Uncertain significance	201479015	RCV000023292; RCV000180413;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008; MedGen:CN221809	11	103191758	103191758	NM_001080463.1:c.11747G>A	NP_001073932.1:p.Gly3916Asp	NC_000011.9:g.103191758G>A	OMIM Allelic Variant:603297.0016	CN221809 not provided; C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001080463.1(DYNC2H1):c.12177+1G>A	79659	DYNC2H1	Pathogenic	794727944	RCV000180422;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	11	103229088	103229088	NM_001080463.1:c.12177+1G>A		NC_000011.9:g.103229088G>A	-	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly
NM_001199397.1(NEK1):c.1640dupA (p.Asn547Lysfs)	4750	NEK1	Pathogenic	483352907	RCV000023383;	N	MedGen:C2751311,OMIM:613091,SNOMED CT:254051008	4	170458985	170458985	NM_001199397.1:c.1640dupA	NP_001186326.1:p.Asn547Lysfs	NC_000004.11:g.170458985dupT	OMIM Allelic Variant:604588.0003	C2751311 613091 Short-rib thoracic dysplasia 3 with or without polydactyly