SRTD2
MCID: SHR067
MIFTS: 44

Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly (SRTD2)

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

Aliases & Classifications for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

Name: Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly 57 12 73
Asphyxiating Thoracic Dystrophy 2 57 12 73 29 13 6 15 71
Srtd2 57 12 73
Atd2 57 12 73
Dysplasia, Short-Rib Thoracic, Type 2, with/without Polydactyly 39
Asphyxiating Thoracic Dystrophy 2; Atd2 57
Jeune Asphyxiating Thoracic Dystrophy 73
Jeune Syndrome 2 73
Jatd 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
clincal variability


HPO:

31
short-rib thoracic dysplasia 2 with or without polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110086
OMIM® 57 611263
OMIM Phenotypic Series 57 PS208500
MeSH 44 D012779
ICD10 32 Q77.2
MedGen 41 C1970005
UMLS 71 C1970005

Summaries for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

OMIM® : 57 Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500). (611263) (Updated 05-Mar-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly, also known as asphyxiating thoracic dystrophy 2, is related to short-rib thoracic dysplasia 4 with or without polydactyly and short-rib thoracic dysplasia 3 with or without polydactyly. An important gene associated with Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly is IFT80 (Intraflagellar Transport 80), and among its related pathways/superpathways are Organelle biogenesis and maintenance and beta-Alanine metabolism (KEGG). Affiliated tissues include eye, pancreas and kidney, and related phenotypes are brachydactyly and narrow chest

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the IFT80 gene on chromosome 3q25.

UniProtKB/Swiss-Prot : 73 Short-rib thoracic dysplasia 2 with or without polydactyly: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.

Related Diseases for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly family:

Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly Short-Rib Thoracic Dysplasia 7 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly Short-Rib Thoracic Dysplasia 8 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly Short-Rib Thoracic Dysplasia 11 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 13 with or Without Polydactyly Short-Rib Thoracic Dysplasia 16 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 17 with or Without Polydactyly Short-Rib Thoracic Dysplasia 19 with or Without Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 4 with or without polydactyly 31.5 WDR19 TTC21B
2 short-rib thoracic dysplasia 3 with or without polydactyly 31.1 WDR19 TTC21B IFT80 DYNC2H1
3 short-rib thoracic dysplasia 12 31.0 WDR19 TTC21B TRIM59-IFT80 IFT80 DYNC2H1
4 short-rib thoracic dysplasia 1 with or without polydactyly 30.7 WDR19 TTC21B TRIM59-IFT80 IFT80 DYNC2H1 ACADS
5 asphyxiating thoracic dystrophy 30.7 WDR19 TTC21B TRIM59-IFT80 IFT80 DYNC2H1
6 polydactyly 30.5 WDR19 TTC21B IFT80 DYNC2H1
7 short-rib thoracic dysplasia 7 with or without polydactyly 30.5 WDR19 TTC21B
8 short-rib thoracic dysplasia 9 with or without polydactyly 30.4 WDR19 TTC21B
9 joubert syndrome 1 30.3 WDR19 TTC21B IFT80 DYNC2H1
10 cranioectodermal dysplasia 30.0 WDR19 TTC21B IFT80 DYNC2H1
11 odontochondrodysplasia 30.0 WDR19 IFT80 DYNC2H1
12 bardet-biedl syndrome 29.9 WDR19 TTC21B IFT80 DYNC2H1
13 short-rib thoracic dysplasia 6 with or without polydactyly 29.9 WDR19 TTC21B TRIM59-IFT80 IFT80 DYNC2H1
14 joubert syndrome with jeune asphyxiating thoracic dystrophy 11.1
15 short-rib thoracic dysplasia 5 with or without polydactyly 10.9
16 short-rib thoracic dysplasia 10 with or without polydactyly 10.4
17 short-rib thoracic dysplasia 17 with or without polydactyly 10.4
18 retinal degeneration 10.4
19 ciliopathy 10.4
20 nephronophthisis 1 10.2
21 retinitis pigmentosa 10.2
22 orofaciodigital syndrome i 10.2
23 short-rib thoracic dysplasia 8 with or without polydactyly 10.2
24 short-rib thoracic dysplasia 11 with or without polydactyly 10.2
25 joubert syndrome 21 10.2
26 bardet-biedl syndrome 4 10.2
27 bardet-biedl syndrome 8 10.2
28 short-rib thoracic dysplasia 13 with or without polydactyly 10.2
29 short-rib thoracic dysplasia 14 with polydactyly 10.2
30 short-rib thoracic dysplasia 15 with polydactyly 10.2
31 short-rib thoracic dysplasia 16 with or without polydactyly 10.2
32 short-rib thoracic dysplasia 18 with polydactyly 10.2
33 short-rib thoracic dysplasia 19 with or without polydactyly 10.2
34 short-rib thoracic dysplasia 20 with polydactyly 10.2
35 brachydactyly 10.2
36 autosomal recessive disease 10.2
37 metaphyseal dysplasia 10.2
38 neuroretinitis 10.2
39 hydrocephalus 10.2
40 respiratory failure 10.2
41 tuberous sclerosis 10.2
42 retinitis 10.2
43 orofaciodigital syndrome 10.2
44 retinal disease 10.2
45 fundus dystrophy 10.2
46 hypotonia 10.2
47 short rib-polydactyly syndrome 10.2
48 inherited retinal disorder 10.2
49 nephronophthisis 13 10.1 WDR19 TTC21B
50 joubert syndrome 4 10.1 TTC21B IFT80

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 brachydactyly 31 HP:0001156
2 narrow chest 31 HP:0000774
3 short metacarpal 31 HP:0010049
4 postaxial hand polydactyly 31 HP:0001162
5 short foot 31 HP:0001773
6 broad palm 31 HP:0001169
7 rhizomelia 31 HP:0008905
8 mesomelia 31 HP:0003027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck

Prenatal Manifestations:
hydrops fetalis

Skeletal Feet:
talipes equinovarus
small feet
polydactyly, postaxial
syndactyly, 2-3 toes
absent ossification of metatarsals

Neurologic Central Nervous System:
holoprosencephaly
anencephaly
hypoplastic frontal lobes
absent olfactory bulbs

Head And Neck Face:
high forehead
mandibular hypoplasia

Skeletal Limbs:
fibular aplasia
rhizomelic limb shortening
mesomelic limb shortening
radial aplasia
bowed femora
more
Chest External Features:
narrow thorax

Respiratory Lung:
bilobar right lung
unilobar left lung

Skeletal Skull:
absent cranial vault

Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Ears:
low-set ears
unfolded helices
atretic external auditory meatus

Skeletal Hands:
brachydactyly
short metacarpals
polydactyly, postaxial
broad hands
absent ossification of metacarpals

Skeletal Spine:
platyspondyly

Abdomen External Features:
omphalocele

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
squared scapulae
wide ribs
high clavicles

Skeletal Pelvis:
trident acetabular roofs

Genitourinary Kidneys:
multicystic kidney
multilobar kidney

Clinical features from OMIM®:

611263 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 BAZ2A BRD7 DYNC2H1 IFT80 TTC21B WDR19

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

# Genetic test Affiliating Genes
1 Asphyxiating Thoracic Dystrophy 2 29 IFT80

Anatomical Context for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

40
Eye, Pancreas, Kidney, Lung

Publications for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

(show all 12)
# Title Authors PMID Year
1
Mutations in IFT80 cause SRPS Type IV. Report of two families and review. 57 6
30767363 2019
2
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 57 6
19648123 2011
3
Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. 6 57
19610081 2009
4
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. 6 57
17468754 2007
5
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
6
Ciliary disorder of the skeleton. 57
22791528 2012
7
ATAD2 predicts poor outcomes in patients with ovarian cancer and is a marker of proliferation. 61
31746426 2020
8
Crystal Structure of the Chloroplastic Glutamine Phosphoribosylpyrophosphate Amidotransferase GPRAT2 From Arabidopsis thaliana. 61
32174940 2020
9
Genetic controls of DNA damage avoidance in response to acetaldehyde in fission yeast. 61
27687866 2017
10
Decrease in acrolein toxicity based on the decline of polyamine oxidases. 61
27590852 2016
11
Molecular analysis of "de novo" purine biosynthesis in solanaceous species and in Arabidopsis thaliana. 61
14977588 2004
12
[Can 3D volumetric analysis of the fetal upper arm and thigh improve conventional 2D weight estimates?]. 61
10226345 1999

Variations for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

6 (show top 50) (show all 98)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIM59-IFT80 NM_020800.3(IFT80):c.315C>G (p.His105Gln) SNV Pathogenic 989 rs137853115 3:160095273-160095273 3:160377485-160377485
2 TRIM59-IFT80 NM_020800.3(IFT80):c.1646_1648del (p.Leu549del) Deletion Pathogenic 429428 rs431905497 3:159998471-159998473 3:160280683-160280685
3 TRIM59-IFT80 NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) SNV Pathogenic 991 rs137853116 3:159986323-159986323 3:160268535-160268535
4 TRIM59-IFT80 NM_020800.3(IFT80):c.721G>A (p.Gly241Arg) SNV Pathogenic 100665 rs138004478 3:160073857-160073857 3:160356069-160356069
5 TRIM59-IFT80 NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr) SNV Pathogenic 845916 3:160018698-160018698 3:160300910-160300910
6 TRIM59-IFT80 NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) SNV Pathogenic 983305 3:159995145-159995145 3:160277357-160277357
7 TRIM59-IFT80 NM_020800.3(IFT80):c.401C>G (p.Ser134Ter) SNV Likely pathogenic 992480 3:160093638-160093638 3:160375850-160375850
8 TRIM59-IFT80 NM_020800.3(IFT80):c.*944A>G SNV Uncertain significance 902000 3:159975369-159975369 3:160257581-160257581
9 TRIM59-IFT80 NM_020800.3(IFT80):c.*887T>C SNV Uncertain significance 902001 3:159975426-159975426 3:160257638-160257638
10 TRIM59-IFT80 NM_020800.3(IFT80):c.1678A>G (p.Asn560Asp) SNV Uncertain significance 343967 rs202145480 3:159997139-159997139 3:160279351-160279351
11 TRIM59-IFT80 NM_020800.3(IFT80):c.*1121T>C SNV Uncertain significance 901997 3:159975192-159975192 3:160257404-160257404
12 TRIM59-IFT80 NM_020800.3(IFT80):c.*1110A>G SNV Uncertain significance 901998 3:159975203-159975203 3:160257415-160257415
13 TRIM59-IFT80 NM_020800.3(IFT80):c.1525G>T (p.Val509Leu) SNV Uncertain significance 902064 3:159998594-159998594 3:160280806-160280806
14 TRIM59-IFT80 NM_020800.3(IFT80):c.655G>A (p.Gly219Ser) SNV Uncertain significance 902122 3:160073923-160073923 3:160356135-160356135
15 TRIM59-IFT80 NM_020800.3(IFT80):c.639+5A>G SNV Uncertain significance 902123 3:160075272-160075272 3:160357484-160357484
16 TRIM59-IFT80 NM_020800.3(IFT80):c.*797A>C SNV Uncertain significance 902893 3:159975516-159975516 3:160257728-160257728
17 TRIM59-IFT80 NM_020800.3(IFT80):c.*792T>G SNV Uncertain significance 902894 3:159975521-159975521 3:160257733-160257733
18 TRIM59-IFT80 NM_020800.3(IFT80):c.*740G>T SNV Uncertain significance 902895 3:159975573-159975573 3:160257785-160257785
19 TRIM59-IFT80 NM_020800.3(IFT80):c.*659C>G SNV Uncertain significance 902896 3:159975654-159975654 3:160257866-160257866
20 TRIM59-IFT80 NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) SNV Uncertain significance 902942 3:160000283-160000283 3:160282495-160282495
21 TRIM59-IFT80 NM_020800.3(IFT80):c.1401T>C (p.Ala467=) SNV Uncertain significance 902943 3:160000381-160000381 3:160282593-160282593
22 TRIM59-IFT80 NM_020800.3(IFT80):c.1339A>G (p.Thr447Ala) SNV Uncertain significance 902944 3:160003633-160003633 3:160285845-160285845
23 TRIM59-IFT80 NM_020800.3(IFT80):c.1151+13G>A SNV Uncertain significance 902945 3:160021690-160021690 3:160303902-160303902
24 TRIM59-IFT80 NM_020800.3(IFT80):c.371T>C (p.Val124Ala) SNV Uncertain significance 903009 3:160093668-160093668 3:160375880-160375880
25 TRIM59-IFT80 NM_020800.3(IFT80):c.209G>A (p.Gly70Asp) SNV Uncertain significance 903010 3:160099341-160099341 3:160381553-160381553
26 TRIM59-IFT80 NM_020800.3(IFT80):c.*417A>G SNV Uncertain significance 900333 3:159975896-159975896 3:160258108-160258108
27 TRIM59-IFT80 NM_020800.3(IFT80):c.*397A>G SNV Uncertain significance 900334 3:159975916-159975916 3:160258128-160258128
28 TRIM59-IFT80 NM_020800.3(IFT80):c.*319G>A SNV Uncertain significance 900335 3:159975994-159975994 3:160258206-160258206
29 TRIM59-IFT80 NM_020800.3(IFT80):c.*318C>T SNV Uncertain significance 900336 3:159975995-159975995 3:160258207-160258207
30 TRIM59-IFT80 NM_020800.3(IFT80):c.*130G>C SNV Uncertain significance 900337 3:159976183-159976183 3:160258395-160258395
31 TRIM59-IFT80 NM_020800.3(IFT80):c.*108A>G SNV Uncertain significance 900338 3:159976205-159976205 3:160258417-160258417
32 TRIM59-IFT80 NM_020800.3(IFT80):c.1104A>T (p.Ile368=) SNV Uncertain significance 900395 3:160021750-160021750 3:160303962-160303962
33 TRIM59-IFT80 NM_020800.3(IFT80):c.957+15C>T SNV Uncertain significance 900396 3:160037533-160037533 3:160319745-160319745
34 TRIM59-IFT80 NM_020800.3(IFT80):c.912G>A (p.Glu304=) SNV Uncertain significance 697279 rs199575501 3:160037593-160037593 3:160319805-160319805
35 TRIM59-IFT80 NM_020800.3(IFT80):c.879C>T (p.Val293=) SNV Uncertain significance 700235 rs143660757 3:160037626-160037626 3:160319838-160319838
36 TRIM59-IFT80 NM_020800.3(IFT80):c.842G>A (p.Gly281Asp) SNV Uncertain significance 900458 3:160037663-160037663 3:160319875-160319875
37 TRIM59-IFT80 NM_020800.3(IFT80):c.804C>T (p.Asn268=) SNV Uncertain significance 900459 3:160037701-160037701 3:160319913-160319913
38 TRIM59-IFT80 NM_020800.3(IFT80):c.691C>T (p.Pro231Ser) SNV Uncertain significance 900460 3:160073887-160073887 3:160356099-160356099
39 TRIM59-IFT80 NM_020800.3(IFT80):c.668A>G (p.Tyr223Cys) SNV Uncertain significance 900461 3:160073910-160073910 3:160356122-160356122
40 TRIM59-IFT80 NM_020800.3(IFT80):c.*1365C>G SNV Uncertain significance 901436 3:159974948-159974948 3:160257160-160257160
41 TRIM59-IFT80 NM_020800.3(IFT80):c.*1254C>T SNV Uncertain significance 901437 3:159975059-159975059 3:160257271-160257271
42 TRIM59-IFT80 NM_020800.3(IFT80):c.*102C>A SNV Uncertain significance 901490 3:159976211-159976211 3:160258423-160258423
43 TRIM59-IFT80 NM_020800.3(IFT80):c.*94A>G SNV Uncertain significance 901491 3:159976219-159976219 3:160258431-160258431
44 TRIM59-IFT80 NM_020800.3(IFT80):c.2224-9C>T SNV Uncertain significance 901492 3:159976432-159976432 3:160258644-160258644
45 TRIM59-IFT80 NM_020800.3(IFT80):c.2156G>A (p.Arg719His) SNV Uncertain significance 702122 rs551983792 3:159986268-159986268 3:160268480-160268480
46 TRIM59-IFT80 NM_020800.3(IFT80):c.2038C>T (p.Leu680Phe) SNV Uncertain significance 901493 3:159995155-159995155 3:160277367-160277367
47 TRIM59-IFT80 NM_020800.3(IFT80):c.*1222T>C SNV Uncertain significance 901995 3:159975091-159975091 3:160257303-160257303
48 TRIM59-IFT80 NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) SNV Uncertain significance 202194 rs138081429 3:160037636-160037636 3:160319848-160319848
49 TRIM59-IFT80 NM_020800.3(IFT80):c.*551A>G SNV Uncertain significance 343957 rs886058126 3:159975762-159975762 3:160257974-160257974
50 TRIM59-IFT80 NM_020800.3(IFT80):c.2289A>G (p.Gln763=) SNV Uncertain significance 343961 rs142438830 3:159976358-159976358 3:160258570-160258570

UniProtKB/Swiss-Prot genetic disease variations for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly:

73
# Symbol AA change Variation ID SNP ID
1 IFT80 p.His105Gln VAR_035006 rs137853115
2 IFT80 p.Ala701Pro VAR_035009 rs137853116

Expression for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 WDR19 TTC21B MRPS2 IFT80 DYNC2H1
2
Show member pathways
10.67 SMOX ACADS
3 10.54 WDR19 TTC21B IFT80 DYNC2H1

GO Terms for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.46 WDR19 TTC21B IFT80 DYNC2H1
2 intraciliary transport particle A GO:0030991 8.96 WDR19 TTC21B
3 ciliary tip GO:0097542 8.92 WDR19 TTC21B IFT80 DYNC2H1

Biological processes related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.5 WDR19 IFT80 DYNC2H1
2 embryonic limb morphogenesis GO:0030326 9.4 WDR19 DYNC2H1
3 non-motile cilium assembly GO:1905515 9.37 IFT80 DYNC2H1
4 smoothened signaling pathway GO:0007224 9.33 WDR19 TTC21B IFT80
5 protein localization to cilium GO:0061512 9.26 TTC21B DYNC2H1
6 intraciliary retrograde transport GO:0035721 9.13 WDR19 TTC21B DYNC2H1
7 intraciliary transport involved in cilium assembly GO:0035735 8.92 WDR19 TTC21B IFT80 DYNC2H1

Molecular functions related to Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone binding GO:0042393 9.13 BRD7 BAZ2A ATAD2
2 lysine-acetylated histone binding GO:0070577 8.62 BRD7 BAZ2A

Sources for Short-Rib Thoracic Dysplasia 2 with or Without Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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