SRTD14
MCID: SHR085
MIFTS: 42

Short-Rib Thoracic Dysplasia 14 with Polydactyly (SRTD14)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Short-Rib Thoracic Dysplasia 14 with Polydactyly

MalaCards integrated aliases for Short-Rib Thoracic Dysplasia 14 with Polydactyly:

Name: Short-Rib Thoracic Dysplasia 14 with Polydactyly 57 12 72 29 6 15
Srtd14 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
affected fetuses frequently undergo spontaneous abortion
variable phenotypic features cataloged depending on development of fetus or infant
term infants generally die within hours of birth, but 1 patient was kept alive for 13 months with ventilatory support


HPO:

31
short-rib thoracic dysplasia 14 with polydactyly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short-Rib Thoracic Dysplasia 14 with 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 with or without polydactyly, see SRTD1 (208500). (616546) (Updated 05-Apr-2021)

MalaCards based summary : Short-Rib Thoracic Dysplasia 14 with Polydactyly, also known as srtd14, is related to weyers acrofacial dysostosis and joubert syndrome 4. An important gene associated with Short-Rib Thoracic Dysplasia 14 with Polydactyly is KIAA0586 (KIAA0586), and among its related pathways/superpathways are Signaling by Hedgehog and Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include brain, eye and pancreas, and related phenotypes are hydrops fetalis and hydrocephalus

Disease Ontology : 12 An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

UniProtKB/Swiss-Prot : 72 Short-rib thoracic dysplasia 14 with 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 14 with Polydactyly

Diseases in the Short-Rib Thoracic Dysplasia 14 with Polydactyly family:

Short-Rib Thoracic Dysplasia 15 with Polydactyly Short-Rib Thoracic Dysplasia 18 with Polydactyly
Short-Rib Thoracic Dysplasia 20 with Polydactyly

Diseases related to Short-Rib Thoracic Dysplasia 14 with Polydactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 10.0 KIAA0586 IQCE
2 joubert syndrome 4 10.0 KIAA0586 CNTLN
3 orofaciodigital syndrome vii 10.0 GLI3 CNTLN
4 skin tag 9.9 IQCE GLI3
5 hemimelia 9.9 GLI3 GLI1
6 anus, imperforate 9.8 GLI3 GLI1
7 acute gonococcal prostatitis 9.8 TPO TBL1X
8 syndactyly, type iv 9.8 ZNF141 IQCE GLI3
9 microcephaly and chorioretinopathy 1 9.8 TPO TBL1X
10 laurin-sandrow syndrome 9.8 ZNF141 IQCE GLI3
11 methylmalonic aciduria, cbla type 9.8 TPO TBL1X
12 pallister-hall syndrome 9.7 ZNF141 GLI3 GLI1
13 joubert syndrome 23 9.7 ZNF141 KIAA0586 IQCE CNTLN
14 infratentorial cancer 9.7 GLI3 GLI1
15 chromosome 2q35 duplication syndrome 9.7 IQCE GLI3 GLI1
16 physical disorder 9.6 GLI3 GLI1 CNTLN
17 basal cell nevus syndrome 9.6 GLI3 GLI1
18 ellis-van creveld syndrome 9.5 KIAA0586 IQCE GLI3 GLI1
19 greig cephalopolysyndactyly syndrome 9.5 ZNF141 IQCE GLI3 GLI1
20 polydactyly, postaxial, type a1 9.5 ZNF141 IQCE GLI3 GLI1
21 acrocallosal syndrome 9.5 ZNF141 IQCE GLI3 GLI1
22 bardet-biedl syndrome 9.5 GLI3 GLI1 CNTLN
23 meckel syndrome, type 1 9.5 KIAA0586 GLI3 GLI1 CNTLN
24 nephronophthisis 9.5 KIAA0586 GLI3 GLI1 CNTLN
25 joubert syndrome 1 9.4 KIAA0586 GLI3 GLI1 CNTLN
26 polydactyly 9.3 ZNF141 KIAA0586 IQCE GLI3 GLI1
27 retinitis pigmentosa 8.9 TBL1X KIAA0586 GLI3 GLI1 CNTLN

Graphical network of the top 20 diseases related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:



Diseases related to Short-Rib Thoracic Dysplasia 14 with Polydactyly

Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Human phenotypes related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hydrops fetalis 31 occasional (7.5%) HP:0001789
2 hydrocephalus 31 HP:0000238
3 short neck 31 HP:0000470
4 depressed nasal bridge 31 HP:0005280
5 cleft palate 31 HP:0000175
6 low-set ears 31 HP:0000369
7 atrial septal defect 31 HP:0001631
8 micropenis 31 HP:0000054
9 polyhydramnios 31 HP:0001561
10 congenital diaphragmatic hernia 31 HP:0000776
11 narrow chest 31 HP:0000774
12 hyporeflexia 31 HP:0001265
13 micromelia 31 HP:0002983
14 polymicrogyria 31 HP:0002126
15 anencephaly 31 HP:0002323
16 pulmonary hypoplasia 31 HP:0002089
17 cerebellar vermis hypoplasia 31 HP:0001320
18 molar tooth sign on mri 31 HP:0002419
19 generalized hypotonia 31 HP:0001290
20 abnormality of the pinna 31 HP:0000377
21 short ribs 31 HP:0000773
22 retinal coloboma 31 HP:0000480
23 preaxial polydactyly 31 HP:0100258
24 postaxial polydactyly 31 HP:0100259
25 aplastic clavicle 31 HP:0006660

Symptoms via clinical synopsis from OMIM®:

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

Head And Neck Mouth:
cleft palate
multiple frenula
multiple tongue hamartomas
hypoplastic gums

Cardiovascular Heart:
atrial septal defect

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
polymicrogyria
anencephaly
cerebellar vermis hypoplasia
generalized hypotonia
hydrocephaly
more
Head And Neck Eyes:
retinal coloboma
no response to visual stimuli
small optic disc

Skeletal Feet:
preaxial polydactyly
postaxial polydactyly
preaxial polysyndactyly
hallux duplication

Head And Neck Teeth:
delayed dentition

Chest Diaphragm:
diaphragmatic hernia

Skeletal Pelvis:
wide flat iliac wing

Head And Neck Nose:
depressed nasal bridge

Head And Neck Ears:
low-set ears
dysplastic ears
no response to acoustic stimuli
no recognizable waves on brainstem auditory evoked potential test

Genitourinary External Genitalia Male:
micropenis

Skeletal Limbs:
micromelia
rounded ends of femurs

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
absent clavicles

Skeletal Hands:
preaxial polydactyly
postaxial polydactyly
polysyndactyly
brachyphalangy (in some patients)

Chest External Features:
narrow thorax

Respiratory Lung:
lung hypoplasia

Skeletal Skull:
occipital defect

Prenatal Manifestations:
hydrops fetalis (rare)

Clinical features from OMIM®:

616546 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 GLI1 GLI3 IQCE KIAA0586 TPO

Drugs & Therapeutics for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Search Clinical Trials , NIH Clinical Center for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Genetic Tests for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Genetic tests related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:

# Genetic test Affiliating Genes
1 Short-Rib Thoracic Dysplasia 14 with Polydactyly 29 KIAA0586

Anatomical Context for Short-Rib Thoracic Dysplasia 14 with Polydactyly

MalaCards organs/tissues related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:

40
Brain, Eye, Pancreas, Lung, Olfactory Bulb, Tongue, Heart

Publications for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Articles related to Short-Rib Thoracic Dysplasia 14 with Polydactyly:

(show all 13)
# Title Authors PMID Year
1
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome. 57 6
26166481 2015
2
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. 6
30120217 2019
3
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6
29068549 2018
4
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 6
28125082 2017
5
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 6
28497568 2017
6
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes. 6
26386044 2015
7
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. 6
26437029 2015
8
KIAA0586 is Mutated in Joubert Syndrome. 6
26096313 2015
9
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). 6
26386247 2015
10
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 6
26026149 2015
11
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. 57
24183451 2013
12
Ciliary disorder of the skeleton. 57
22791528 2012
13
[The use of mildronat in heart failure in patients with chronic ischemic heart disease]. 6
2609613 1989

Variations for Short-Rib Thoracic Dysplasia 14 with Polydactyly

ClinVar genetic disease variations for Short-Rib Thoracic Dysplasia 14 with Polydactyly:

6 (show top 50) (show all 102)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIAA0586 NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) SNV Pathogenic 208812 rs797045119 GRCh37: 14:58895176-58895176
GRCh38: 14:58428458-58428458
2 KIAA0586 NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) SNV Pathogenic 208813 rs762081862 GRCh37: 14:58925263-58925263
GRCh38: 14:58458545-58458545
3 KIAA0586 NC_000014.9:g.(?_58443934)_(58450766_?)del Deletion Pathogenic 583841 GRCh37: 14:58910652-58917484
GRCh38: 14:58443934-58450766
4 KIAA0586 NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) SNV Pathogenic 475455 rs780520735 GRCh37: 14:58915081-58915081
GRCh38: 14:58448363-58448363
5 KIAA0586 NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) Deletion Pathogenic 542183 rs1410766981 GRCh37: 14:58937392-58937396
GRCh38: 14:58470674-58470678
6 KIAA0586 NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) SNV Pathogenic 565469 rs1566827747 GRCh37: 14:58926708-58926708
GRCh38: 14:58459990-58459990
7 KIAA0586 NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) Duplication Pathogenic 575236 rs745949846 GRCh37: 14:58895012-58895013
GRCh38: 14:58428294-58428295
8 KIAA0586 NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) Duplication Pathogenic 575236 rs745949846 GRCh37: 14:58895012-58895013
GRCh38: 14:58428294-58428295
9 KIAA0586 NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) SNV Pathogenic 217667 rs540255320 GRCh37: 14:58949430-58949430
GRCh38: 14:58482712-58482712
10 KIAA0586 NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) SNV Pathogenic 854917 GRCh37: 14:58955479-58955479
GRCh38: 14:58488761-58488761
11 KIAA0586 NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) SNV Pathogenic 933557 GRCh37: 14:58926612-58926612
GRCh38: 14:58459894-58459894
12 KIAA0586 NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) SNV Pathogenic 940430 GRCh37: 14:58910816-58910816
GRCh38: 14:58444098-58444098
13 KIAA0586 NM_001329943.3(KIAA0586):c.1254-1G>C SNV Pathogenic 204594 rs757350052 GRCh37: 14:58923419-58923419
GRCh38: 14:58456701-58456701
14 KIAA0586 NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) Duplication Pathogenic 524064 rs1203751352 GRCh37: 14:58910873-58910874
GRCh38: 14:58444155-58444156
15 KIAA0586 NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) SNV Pathogenic 418265 rs1064793157 GRCh37: 14:58934551-58934551
GRCh38: 14:58467833-58467833
16 KIAA0586 NM_001329943.3(KIAA0586):c.94dup (p.His32fs) Duplication Pathogenic 445497 rs555421894 GRCh37: 14:58895075-58895076
GRCh38: 14:58428357-58428358
17 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) Deletion Pathogenic/Likely pathogenic 204593 rs534542684 GRCh37: 14:58899157-58899157
GRCh38: 14:58432439-58432439
18 KIAA0586 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) Deletion Likely pathogenic 204593 rs534542684 GRCh37: 14:58899157-58899157
GRCh38: 14:58432439-58432439
19 KIAA0586 NM_001329943.3(KIAA0586):c.4324-1G>A SNV Likely pathogenic 1031253 GRCh37: 14:58979239-58979239
GRCh38: 14:58512521-58512521
20 KIAA0586 NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) SNV Likely pathogenic 620387 rs1566903524 GRCh37: 14:58965537-58965537
GRCh38: 14:58498819-58498819
21 KIAA0586 NM_001329943.3(KIAA0586):c.3781+2T>C SNV Likely pathogenic 573644 rs1331480187 GRCh37: 14:58955594-58955594
GRCh38: 14:58488876-58488876
22 KIAA0586 NC_000014.9:g.(?_58448320)_(58450766_?)dup Duplication Likely pathogenic 832765 GRCh37: 14:58915038-58917484
GRCh38:
23 KIAA0586 NM_001329943.3(KIAA0586):c.2944+4A>C SNV Likely pathogenic 475446 rs372841738 GRCh37: 14:58943963-58943963
GRCh38: 14:58477245-58477245
24 KIAA0586 NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) SNV Uncertain significance 475452 rs376795880 GRCh37: 14:58965670-58965670
GRCh38: 14:58498952-58498952
25 KIAA0586 NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) SNV Uncertain significance 475445 rs537951340 GRCh37: 14:58941494-58941494
GRCh38: 14:58474776-58474776
26 KIAA0586 NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) SNV Uncertain significance 542187 rs746136288 GRCh37: 14:58899130-58899130
GRCh38: 14:58432412-58432412
27 KIAA0586 NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) SNV Uncertain significance 642127 rs1595348112 GRCh37: 14:58955550-58955550
GRCh38: 14:58488832-58488832
28 KIAA0586 NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) SNV Uncertain significance 650917 rs201929144 GRCh37: 14:58958983-58958983
GRCh38: 14:58492265-58492265
29 KIAA0586 NM_001329943.3(KIAA0586):c.1253+3A>G SNV Uncertain significance 652691 rs762698768 GRCh37: 14:58920194-58920194
GRCh38: 14:58453476-58453476
30 KIAA0586 NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) SNV Uncertain significance 656922 rs1425457941 GRCh37: 14:58956899-58956899
GRCh38: 14:58490181-58490181
31 KIAA0586 NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) SNV Uncertain significance 542185 rs199537542 GRCh37: 14:58949289-58949289
GRCh38: 14:58482571-58482571
32 KIAA0586 NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) SNV Uncertain significance 542186 rs370303493 GRCh37: 14:59006831-59006831
GRCh38: 14:58540113-58540113
33 KIAA0586 NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) SNV Uncertain significance 945734 GRCh37: 14:58927705-58927705
GRCh38: 14:58460987-58460987
34 KIAA0586 NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) SNV Uncertain significance 958351 GRCh37: 14:58915164-58915164
GRCh38: 14:58448446-58448446
35 KIAA0586 NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) SNV Uncertain significance 998645 GRCh37: 14:58909497-58909497
GRCh38: 14:58442779-58442779
36 KIAA0586 NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) SNV Uncertain significance 1000361 GRCh37: 14:58943918-58943918
GRCh38: 14:58477200-58477200
37 KIAA0586 NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) SNV Uncertain significance 1001629 GRCh37: 14:58932570-58932570
GRCh38: 14:58465852-58465852
38 KIAA0586 NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) SNV Uncertain significance 1004943 GRCh37: 14:58896096-58896096
GRCh38: 14:58429378-58429378
39 KIAA0586 NM_001329943.3(KIAA0586):c.4323+4C>T SNV Uncertain significance 1006249 GRCh37: 14:58975431-58975431
GRCh38: 14:58508713-58508713
40 KIAA0586 NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) SNV Uncertain significance 1009481 GRCh37: 14:58924636-58924636
GRCh38: 14:58457918-58457918
41 KIAA0586 NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) SNV Uncertain significance 1011668 GRCh37: 14:58965577-58965577
GRCh38: 14:58498859-58498859
42 KIAA0586 NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr) SNV Uncertain significance 1011970 GRCh37: 14:58956924-58956924
GRCh38: 14:58490206-58490206
43 KIAA0586 NM_001329943.3(KIAA0586):c.3858+4A>G SNV Uncertain significance 942439 GRCh37: 14:58956962-58956962
GRCh38: 14:58490244-58490244
44 KIAA0586 NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) SNV Uncertain significance 951504 GRCh37: 14:58924598-58924598
GRCh38: 14:58457880-58457880
45 KIAA0586 NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) SNV Uncertain significance 951834 GRCh37: 14:58910854-58910854
GRCh38: 14:58444136-58444136
46 KIAA0586 NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=) SNV Uncertain significance 961724 GRCh37: 14:58925191-58925191
GRCh38: 14:58458473-58458473
47 KIAA0586 NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) SNV Uncertain significance 840993 GRCh37: 14:58894351-58894351
GRCh38: 14:58427633-58427633
48 KIAA0586 NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser) SNV Uncertain significance 1035545 GRCh37: 14:58924507-58924507
GRCh38: 14:58457789-58457789
49 KIAA0586 NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs) Deletion Uncertain significance 1036257 GRCh37: 14:59006841-59006842
GRCh38: 14:58540123-58540124
50 KIAA0586 NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe) SNV Uncertain significance 1038096 GRCh37: 14:58924559-58924559
GRCh38: 14:58457841-58457841

Expression for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Search GEO for disease gene expression data for Short-Rib Thoracic Dysplasia 14 with Polydactyly.

Pathways for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Pathways related to Short-Rib Thoracic Dysplasia 14 with Polydactyly according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.97 IQCE GLI3 GLI1
2 10.8 GLI3 GLI1
3 10.55 IQCE GLI3 GLI1
4
Show member pathways
10.23 GLI3 GLI1

GO Terms for Short-Rib Thoracic Dysplasia 14 with Polydactyly

Cellular components related to Short-Rib Thoracic Dysplasia 14 with Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.43 IQCE GLI3 GLI1
2 transcriptional repressor complex GO:0017053 9.16 TBL1X GLI3
3 ciliary tip GO:0097542 8.96 GLI3 GLI1
4 ciliary base GO:0097546 8.62 GLI3 GLI1

Biological processes related to Short-Rib Thoracic Dysplasia 14 with Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.4 GLI3 GLI1
2 dorsal/ventral pattern formation GO:0009953 9.37 GLI3 GLI1
3 liver regeneration GO:0097421 9.32 GLI3 GLI1
4 proximal/distal pattern formation GO:0009954 9.26 GLI3 GLI1
5 prostate gland development GO:0030850 9.16 GLI3 GLI1
6 smoothened signaling pathway GO:0007224 9.13 KIAA0586 GLI3 GLI1
7 limb morphogenesis GO:0035108 8.8 ZNF141 IQCE GLI3

Molecular functions related to Short-Rib Thoracic Dysplasia 14 with Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 8.62 TBL1X GLI3

Sources for Short-Rib Thoracic Dysplasia 14 with 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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