MCID: DVL002

Developmental Disabilities malady

Summaries for Developmental Disabilities

Sources:
23MedlinePlus, 44Wikipedia, 22MalaCards
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MedlinePlus: Developmental disabilities are birth defects that cause lifelong problems with how a body part or system works. they include nervous system disabilities affecting how the brain, spinal cord and nervous system function. they cause mental retardation, including down syndrome and fragile x syndrome. they also cause learning and behavioral disorders, such as autism sensory-related disabilities, which can cause vision, hearing and sight problems metabolic disorders such as phenylketonuria, which affect how your body processes the materials it needs to function degenerative disorders such as rett syndrome, which might only become apparent when children are older and can cause physical and mental problems most developmental disabilities have no cure, but you can often treat the symptoms. physical, speech and occupational therapy might help. special education classes and psychological counseling can also help. nih: national institute of child health and human development23

MalaCards: Developmental Disabilities is related to blindness and iris hypoplasia. An important gene associated with Developmental Disabilities is WHCR (Wolf-Hirschhorn syndrome chromosome region), and among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Development FGF-family signaling. The compounds phenylalanine and hpaii have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related mouse phenotypes are liver/biliary system and respiratory system.

Wikipedia: Developmental disability is a term used in the United States and Canada to describe lifelong...44 more...

Aliases & Descriptions for Developmental Disabilities

Sources:
2CDC, 44Wikipedia, 17Genetics Home Reference, 32Novoseek , 23MedlinePlus, 43UMLS
See all sources
developmental disabilities 44 17 32 23 43

Related Diseases for Developmental Disabilities

Sources:
13GeneCards, 14GeneDecks
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Diseases related to developmental disabilities by text searches and GeneDecks gene sharing:

(show top 50)    (show all 213)
idRelated DiseaseScoreTop Affiliating Genes
1blindness26.5PAFAH1B1, PAX6, SCT, UBE3A, FOXC1, MAOA
2iris hypoplasia13.7PAX6, FOXC1, PITX2
3axenfeld-rieger syndrome13.7PAX6, FOXC1, PITX2
4renal coloboma syndrome13.7PAX2, PITX2
5cataract-glaucoma13.6PAX6, FOXC1, GJA1, PITX2
6opitz g/bbb syndrome13.6MID1, MID2
7glaucoma, congenital13.6PAX6, FOXC1, TYR
8subcortical laminar heterotopia13.6PAFAH1B1, DCX
9bladder cancer, somatic13.6FGFR3, HRAS
10waardenburg syndrome type 213.5EDNRB, TYR, SOX10
11cystic kidney13.5PAX2, SCT, HNF1B, TSC1
12ventricular septal defect13.5JAG1, GLI1, TBX5, HIRA
13jackson-weiss syndrome13.5FGFR1, FGFR2, FGFR3
14pulmonary valve stenosis13.5JAG1, PTPN11, ELN, HIRA
15fgfr-related craniosynostosis syndromes13.5FGFR1, FGFR2, FGFR3
16growth disorders13.5FGFR3, MECP2, DHCR7
17osteoglophonic dysplasia13.5FGFR1, FGFR2, FGFR3
18coloboma13.5PAX6, PAX2, TBX5, PITX2, SOX10
19muenke syndrome13.5FGFR1, FGFR2, FGFR3
20osteochondroma13.5FGFR1, FGFR3, PTPN11
21plagiocephaly13.5FGFR1, FGFR2, FGFR3
22shah-waardenburg syndrome13.5RET, EDNRB, SOX10
23crouzonodermoskeletal syndrome13.4FGFR2, FGFR3
24thanatophoric dysplasia13.4FGFR2, FGFR3
25peters anomaly13.4PAX6, FOXC1, FOXP2, PITX2
26crouzon syndrome13.4FGFR1, FGFR2, FGFR3
27acrocephalosyndactylia13.4FGFR1, FGFR2, FGFR3
28lacrimal duct obstruction13.4PAX2, SCT, GJA1, EDNRB, ELN
29hypochondroplasia13.4FGFR1, FGFR2, FGFR3
30colonic aganglionosis13.4RET, EDNRB, SOX10
31disorders of sex development13.4FOXL2, NR0B1, SOX10
32chst3-related skeletal dysplasia13.4FGFR1, FGFR2, FGFR3, RMRP
33craniofacial anomalies13.4FOXC1, FGFR2, GJA1, TBX5, DHCR7
34infantile epileptic encephalopathy13.4PAFAH1B1, MECP2, TSC1
35radioulnar synostosis13.4FGFR1, FGFR2, FGFR3
36cardiofaciocutaneous syndrome13.4BRAF, HRAS, PTPN11
37infectious mononucleosis13.4FGFR1, FGFR2, FGFR3
38pulmonary hypertension13.4RHOD, EDNRB, ELN, G6PC
39craniosynostosis, syndromic13.4FGFR1, FGFR2, FGFR3
40cockayne syndrome13.3FGFR1, FGFR2, FGFR3, MECP2
41polycystic kidney disease13.3BRAF, PAX2, HNF1B, TSC1
42synostosis13.3FGFR1, FGFR2, FGFR3, GLI3
43renal agenesis13.3RET, PAX2, SALL1, FGFR1, DHCR7
44cholestasis13.3SCT, JAG1, HNF1B, HNF4A, DHCR7, HADHA
45x inactivation13.3FMR1, MID1, MECP2, HPRT1, NR0B1
46hyperinsulinism13.3LMNA, SCT, HNF1B, HNF4A, G6PC
47polydactyly13.3SALL1, FGFR2, GLI1, GLI3, OFD1, DHCR7
48hypospadias13.3SALL1, FMR1, MID1, MID2, FGFR2
49aniridia13.3PAX6, PAX2, BDNF, FOXC1, HRAS, PITX2
50costello syndrome13.3BRAF, HRAS, PTPN11, ELN

Graphical network of the top 20 diseases related to developmental disabilities:



Graphical network of diseases related to developmental disabilities

Clinical Features for Developmental Disabilities

Drugs & Therapeutics for Developmental Disabilities

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
See all sources

Approved drugs:

Search CenterWatch for developmental disabilities

Drug clinical trials:

Search ClinicalTrials for developmental disabilities

Search NIH Clinical Center for developmental disabilities

Search CenterWatch for developmental disabilities

Genetic Tests for Developmental Disabilities

Anatomical Context for Developmental Disabilities

Sources:
22MalaCards
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MalaCards organs/tissues related to developmental disabilities:

22
Brain, Spinal cord

Phenotypes for genes affiliated with Developmental Disabilities

Sources:
25MGI
See all sources

MGI Mouse Phenotypes related to developmental disabilities:

25 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1liver/biliary system phenotypeMP:00053708.9HNF1B, HADHA, FOXC1, HPRT1, GK, DHCR7
2respiratory system phenotypeMP:00053888.6PAX6, BDNF, FOXC1, FOXP2, MECP2, GLI3
3endocrine/exocrine gland phenotypeMP:00053798.4RET, PAFAH1B1, SOX10, TYR, PAX2, FOXL2
4pigmentation phenotypeMP:00011868.4SOX10, PAX6, BRAF, LMNA, TYR, EDNRB
5tumorigenesisMP:00020068.1RET, BRAF, PAX6, GLI1, HRAS, HPRT1
6limbs/digits/tail phenotypeMP:00053717.9FOXC1, FGFR1, FGFR2, FGFR3, GLI1, GLI3
7hearing/vestibular/ear phenotypeMP:00053777.5EDNRB, BDNF, PAX2, PAX6, LMNA, SALL1
8renal/urinary system phenotypeMP:00053677.2HADHA, DHCR7, FGFR2, FGFR1, TSC1, TYR
9skeleton phenotypeMP:00053906.9FGFR2, FGFR1, FOXC1, JAG1, MECP2, BRAF
10digestive/alimentary phenotypeMP:00053816.7BRAF, LMNA, RET, PAX6, PTPN11, TPP1
11vision/eye phenotypeMP:00053916.4RAF1, LMNA, BRAF, FOXC1, PAX6, PAX2
12integument phenotypeMP:00107716.2GLI3, HRAS, HPRT1, GJA1, TPP1, PTPN11
13craniofacial phenotypeMP:00053826.0HRAS, HPRT1, GJA1, TPP1, PTPN11, OFD1
14normal phenotypeMP:00028735.9RET, TBX5, CREBBP, PITX2, G6PC, TYR
15embryogenesis phenotypeMP:00053805.7RET, BRAF, RAF1, PAX6, PAX2, SALL1
16behavior/neurological phenotypeMP:00053864.3BRAF, LMNA, PAFAH1B1, PAX6, HRAS, HPRT1
17nervous system phenotypeMP:00036313.5BRAF, LMNA, RAF1, PAFAH1B1, PAX6, PAX2
18homeostasis/metabolism phenotypeMP:0005376INFRET, BRAF, FGFR2, FGFR3, MECP2, MAOA
19muscle phenotypeMP:0005369INFGJA1, HNF1B, PTPN11, TBX5, CREBBP, PITX2
20cellular phenotypeMP:0005384INFFMR1, PITX2, , EDNRB, TYR, TSC1
21reproductive system phenotypeMP:0005389INFPAX2, PAX6, PAFAH1B1, LMNA, RET, BDNF
22cardiovascular system phenotypeMP:0005385INFRET, BRAF, LMNA, RAF1, PAX6, PAX2
23mortality/agingMP:0010768INFHTR1A, , EDNRB, G6PC, HIRA, TYR
24no phenotypic analysisMP:0003012INFGLI1, MECP2, FGFR3, FGFR1, FOXP2, JAG1
25growth/size phenotypeMP:0005378INFFOXP2, NIPBL, PITX2, , EDNRB, G6PC
26immune system phenotypeMP:0005387INFFGFR2, FGFR3, RAF1, BRAF, PAX6, FOXP2

Publications for genes affiliated with Developmental Disabilities

Sources:
35PubMed
See all sources

Articles related to developmental disabilities:

idTitleAuthorsYearAffiliating Genes
1Monoamine oxidase a promoter gene associated with pro blem behavior in adults with intellectual/developmental disabilities. (19642709)May M.E.... Kennedy C.H.2009MAOA
2Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. (18060736)Griggs B.L.... Srivastava A.K.2008DOCK8
3Secretin is an ineffective treatment for pervasive developmental disabilities: a review of 15 double-blind randomized controlled trials. (15590241)Sturmey P.2005SCT
4The Colorado mental retardation and developmental disabilities research center. (12175865)Crnic L.S.2002GK, ETFDH
5Distribution of FMR1 and FMR2 alleles in Javanese individuals with developmental disability and confirmation of a specific AGG-interruption pattern in Asian populations. (11427173)Faradz S.M.... Holden J.J.2001FMR1
6Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. (10638050)Faulkner M.S.1999HADHA
7Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. (8844096)Holden J.J.... White B.N.1996FMR1

Expression for genes affiliated with Developmental Disabilities

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Developmental Disabilities

Pathways for genes affiliated with Developmental Disabilities

Sources:
36QIAGEN, 10EMD Millipore, 3Cell Signaling Technology, 41Thomson Reuters, 20KEGG, 34PharmGKB, 37R&D Systems
See all sources

Pathways related to developmental disabilities according to GeneDecks:

(show top 50)    (show all 54)
idPathwayScoreTop Affiliating Genes
1Transcriptional Regulatory Network in Embryonic Stem Cell3610.4PAX6, HNF4A, SALL1, FOXC1
2Development FGF-family signaling109.9HRAS, FGFR1, FGFR3, FGFR2, PTPN11
3Angiogenesis39.8CREBBP, FGFR3, FGFR1, JAG1, FGFR2
4Development FGFR signaling pathway109.8FGFR1, RAF1, HRAS, PTPN11
5Development_FGFR signaling pathway419.7RAF1, FGFR1, HRAS, PTPN11
6Bladder cancer209.7HRAS, FGFR3, RAF1, BRAF
7Sorafenib Pharmacodynamics349.6RET, BRAF, RAF1, HRAS
8Development_Prolactin receptor signaling419.6RAF1, CREBBP, HRAS, PTPN11
9JNK Pathway369.6HRAS, FGFR1, FGFR2, RAF1, FGFR3
10Development_Neurotrophin family signaling419.6BRAF, RAF1, BDNF, PTPN11, HRAS
11Development Neurotrophin family signaling109.5BRAF, PTPN11, HRAS, BDNF, RAF1
12Renal cell carcinoma209.5RAF1, CREBBP, BRAF, PTPN11, HRAS
13FGF Pathway369.5RAF1, HRAS, FGFR3, FGFR2, FGFR1
14Melanogenesis209.5TYR, CREBBP, HRAS, EDNRB, RAF1
15Development Prolactin receptor signaling109.5PTPN11, HRAS, RAF1, CREBBP
16PPAR Pathway369.5FGFR3, FGFR2, CREBBP, FGFR1, RAF1
17Activation of cAMP-Dependent PKA369.5FGFR1, FGFR2, RAF1, BDNF
18Development_FGF-family signaling419.5FGFR1, FGFR2, FGFR3, HRAS, PTPN11, RAF1
19Pathway_PA165959425349.5HRAS, RET, BRAF, RAF1, FGFR1
20TGF-beta Signaling Pathways379.4CREBBP, BRAF, HNF4A, GLI3, RAF1
21Neurotrophin signaling pathway209.4PTPN11, BRAF, RAF1, BDNF, HRAS
22Pathway_PA165980050349.3FGFR3, FGFR2, FGFR1, RAF1, BRAF, HRAS
23Insulin signaling pathway209.3BRAF, G6PC, RAF1, HRAS, TSC1
24Pathways in cancer209.3FGFR1, CREBBP, GLI3, GLI1, FGFR3, RET
25P2Y Receptor Signaling369.3BRAF, RAF1, FGFR2, FGFR1, FGFR3, HRAS
26Molecular Mechanisms of Cancer369.3HRAS, SOX10, TSC1, FGFR2, FGFR1, BDNF
27Prostate cancer209.3FGFR1, CREBBP, HRAS, FGFR2, BRAF, RAF1
2814-3-3 Induced Intracellular Signaling369.2HRAS, FGFR3, FGFR2, BDNF, TSC1, RAF1
29Regulation of actin cytoskeleton209.2FGFR2, HRAS, FGFR3, FGFR1, RAF1, BRAF
30Ras Pathway369.2BRAF, RAF1, FGFR1, FGFR2, FGFR3, HRAS
31Prolactin Signaling369.2BRAF, CREBBP, HRAS, RAF1
32Endothelin-1 Signaling Pathway369.1FGFR1, RAF1, BRAF, HRAS, FGFR3, FGFR2
33Signaling Involved in Cardiac Hypertrophy369.0HRAS, FGFR2, FGFR3, FGFR1, CREBBP, BRAF
34eIF2 Pathway369.0BDNF, RAF1, BRAF, FGFR1, FGFR2, FGFR3
35Nanog in Mammalian ESC Pluripotency369.0FGFR2, FGFR1, FGFR3, HRAS, BRAF, BDNF
36TRKA Signaling369.0BRAF, CREBBP, HRAS, RAF1
37p70S6K Signaling368.9BDNF, RAF1, CREBBP, HRAS, FGFR3, FGFR1
38Rap1 Pathway368.9FGFR1, RAF1, HRAS, FGFR3, BRAF, FGFR2
39Rac1 Pathway368.9HRAS, FGFR3, FGFR2, FGFR1, BDNF, RAF1
40MAPK signaling pathway208.9HRAS, BRAF, RAF1, BDNF, FGFR1, FGFR2
41CREB Pathway368.9BDNF, CREBBP, RAF1, FGFR1, FGFR2, FGFR3
42PTEN Pathway368.8FGFR1, FGFR2, FGFR3, RAF1, BDNF, BRAF
43GPCR Pathway368.8BRAF, BDNF, RAF1, FGFR2, FGFR3, FGFR1
44MAPK Family Pathway368.8HRAS, FGFR3, FGFR2, FGFR1, BDNF, RAF1
45Phospholipase-C Pathway368.7FGFR3, FGFR1, RAF1, BDNF, FGFR2, HRAS
46ERK Signaling368.6FGFR3, FGFR2, RAF1, BRAF, PAX6, BDNF
47MAPK Signaling368.6BRAF, RAF1, BDNF, FGFR2, HNF4A, HRAS
48Activation of PKA through GPCR368.6BDNF, HRAS, BRAF, RAF1, CREBBP, FGFR1
49JAK-STAT Pathway368.6FGFR1, CREBBP, HRAS, FGFR3, FGFR2, RAF1
50Estrogen Pathway368.5FGFR1, BRAF, BDNF, UBE3A, RAF1, FGFR2

Compounds for genes affiliated with Developmental Disabilities

Sources:
32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB, 34PharmGKB
See all sources

Compounds related to developmental disabilities according to GeneDecks:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1phenylalanine32 10.3BDNF, FGFR3
2hpaii32 10.2MECP2, NR0B1, HPRT1, FMR1
3lysine32 10.0EDNRB, HNF4A, SCT, UBE3A, FGFR3
4pd 16157042 10.0FGFR2, FGFR1, FGFR3
5su540232 9.8FGFR1, FGFR2, FGFR3
6su 540242 9.5FGFR3, FGFR2, FGFR1
7glucose32 9.3PITX2, FGFR1, HADHA, GLI1, FGFR2, TSC1
8bromodeoxyuridine32 9.3PAX6, BDNF, FGFR1, GJA1, HRAS, FGFR2
9threonine32 9.1HNF4A, PAX2, RAF1, FGFR1, RET, FGFR3
10rapamycin32 42 9.9BRAF, RAF1, FMR1, HRAS, RHOD, ELN
11methionine32 8.8GJA1, HRAS, MECP2, FGFR1, PTPN11, BDNF
12guanine32 9 18 9 11.7RAF1, SCT, FGFR3, HRAS, HPRT1, RHOD
13aspartate32 8.6RET, TYR, RAF1, G6PC, BRAF, ELN
14phosphoinositide32 8.6INPP5J, BRAF, RAF1, BDNF, FOXP2, HADHA
15phosphotyrosine32 8.6RET, PTPN11, GJA1, HRAS, FGFR3, FGFR1
16valine32 8.6HPRT1, HRAS, BDNF, RAF1, BRAF, ELN
17steroid32 8.6EDNRB, G6PC, DHCR7, CREBBP, NR0B1, HNF4A
18adenylate32 8.6BDNF, SCT, FGFR1, FGFR2, EDNRB, G6PC
19paraffin32 8.5FGFR2, TSC1, HRAS, FGFR3, GJA1, ELN
20zinc32 18 9.5BDNF, CREBBP, NR0B1, SCT, HNF4A, GLI3
21thymidine32 18 9.4BDNF, RAF1, FGFR2, HRAS, HPRT1, GJA1
22paclitaxel32 34 9 9 11.3BRAF, FGFR2, FGFR1, BDNF, RAF1, TYR
23doxorubicin32 34 9 9 11.3TYR, GJA1, RAF1, BDNF, UBE3A, FGFR2
24genistein32 9 18 9 11.3RAF1, TYR, RHOD, FGFR1, FGFR2, GJA1
25cisplatin32 34 9 9 11.2TYR, FGFR2, HRAS, GJA1, PTPN11, BDNF
26agar32 8.2BDNF, TYR, ELN, PTPN11, GJA1, HRAS
27cysteine32 8.1PAFAH1B1, HRAS, TYR, EDNRB, RHOD, PITX2
28ly29400232 8.1GJA1, TYR, BRAF, RAF1, BDNF, FOXP2
29arginine32 8.0CREBBP, PITX2, RHOD, EDNRB, ELN, TYR
30oligonucleotide32 8.0FMR1, PTPN11, HNF4A, RAF1, BRAF, RET
31oxygen32 18 8.9GJA1, HRAS, CREBBP, MAOA, FOXP2, TYR
32dopamine32 9 18 9 10.8RHOD, TYR, SCT, HPRT1, RET, RAF1
33dexamethasone32 42 34 9 9 11.8TYR, RAF1, PTPN11, HNF4A, G6PC, HPRT1
34pd 98,05932 7.6RET, CREBBP, FGFR1, FGFR2, BRAF, SCT
35calcium32 9 18 9 10.4LMNA, PAFAH1B1, BDNF, BRAF, PTPN11, SCT
36glutamate32 7.2GJA1, HPRT1, MAOA, MECP2, FGFR3, FGFR2
37alanine32 7.1UBE3A, PTPN11, HADHA, TSC1, TYR, G6PC
38retinoic acid32 42 18 9.0RET, GJA1, HNF4A, SCT, BDNF, TBX5
39atp32 7.0FGFR2, BRAF, LMNA, BDNF, SCT, UBE3A
40h2o232 6.9EDNRB, ELN, FGFR1, FGFR2, MAOA, HRAS
41testosterone32 9 18 9 9.9RET, RAF1, BDNF, SCT, FMR1, FGFR1
42lipid32 6.8GJA1, HNF4A, BDNF, BRAF, GK, PITX2
43phosphatidylinositol32 6.8GLI1, FGFR2, FOXP2, INPP5J, GJA1, HRAS
44estrogen32 6.7HRAS, MAOA, GJA1, HNF4A, CREBBP, ELN
45vegf32 6.7PAX6, RAF1, BRAF, RET, BDNF, FOXP2
46serine32 6.2CREBBP, PITX2, RHOD, EDNRB, TYR, TSC1
47tyrosine32 6.2PITX2, RHOD, EDNRB, G6PC, TYR, TSC1
48forskolin32 42 9 9 INFFGFR1, BDNF, RAF1, HADHA, FMR1, SCT
49isoproterenol32 9 9 INFRAF1, TYR, , CREBBP, GJA1, SCT
50cyclic amp32 18 INFRET, GJA1, HRAS, FMR1, SCT, BDNF

GO Terms for genes affiliated with Developmental Disabilities

Sources:
12Gene Ontology
See all sources

Cellular components related to developmental disabilities according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056346.2FOXL2, FOXP2, FGD1, FGFR1, FGFR2, FOXC1
2cytoplasmGO:0057375.3HNF4A, GK, HPRT1, HRAS, GLI3, GLI1
3cytosolGO:005829INFDCX, GLI1, MECP2, FGFR1, FGD1, INPP5J

Biological processes related to developmental disabilities according to GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:02198310.5NR0B1, GLI1, PAX6, SALL1
2forelimb morphogenesisGO:03513610.5SALL1, TBX5, NIPBL
3cell fate determinationGO:00170910.4JAG1, PAX2, PAX6
4positive regulation of neuroblast proliferationGO:00205210.3PAX6, SOX10, GLI3
5regulation of cell migrationGO:03033410.2PITX2, LMNA, PAX6, JAG1
6melanocyte differentiationGO:03031810.2SOX10, EDNRB, GLI3
7positive regulation of phospholipase activityGO:01051810.1FGFR3, FGFR1, FGFR2
8enteric nervous system developmentGO:04848410.1RET, EDNRB, SOX10
9fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.1FGFR1, FGFR2
10embryonic digestive tract morphogenesisGO:04855710.1FGFR2, GLI3, HNF1B, NIPBL, PITX2
11lung developmentGO:03032410.1DHCR7, FGFR2, TBX5, GLI3, GLI1
12regulation of smoothened signaling pathwayGO:00858910.1CREBBP, GLI1, FGFR2
13positive regulation of cardiac muscle cell proliferationGO:06004510.1FGFR1, TBX5, FGFR2
14neuron migrationGO:00176410.0PAFAH1B1, PAX6, FGFR1, GJA1, DCX, PITX2
15posterior midgut developmentGO:0074979.9RET, EDNRB
16organ morphogenesisGO:0098879.8HRAS, BRAF, FGFR2, ELN, PAX6, FGD1
17in utero embryonic developmentGO:0017019.7FGFR2, GLI3, PITX2, SOX10, GJA1, FOXC1
18heart developmentGO:0075079.7GLI3, RAF1, SALL1, FOXC1, TBX5, GJA1
19glucose homeostasisGO:0425939.7PAX6, HNF4A, PTPN11, G6PC
20ureteric bud developmentGO:0016579.7SALL1, FGFR2, RET, BDNF, FGFR1
21negative regulation of transcription, DNA-dependentGO:0458929.6NR0B1, FOXP2, NIPBL, MECP2, PAX2, SALL1
22positive regulation of MAPK cascadeGO:0434109.5FGFR1, HRAS, FGFR3, FGFR2
23negative regulation of apoptotic processGO:0430669.4PAX2, BRAF, HNF1B, SOX10, RAF1, FGFR1
24MAPK cascadeGO:0001659.4FGFR1, RET, RAF1, FGFR3, HRAS
25insulin receptor signaling pathwayGO:0082869.3FGFR3, RAF1, FGFR1, FGFR2, TSC1, PTPN11
26axon guidanceGO:0074119.2PAX6, FGFR1, PTPN11, RAF1, GLI3, BDNF
27fibroblast growth factor receptor signaling pathwayGO:0085439.1FGFR1, RAF1, FGFR2, FGFR3, HRAS, PTPN11
28positive regulation of cell proliferationGO:0082849.1FGFR1, FGFR2, MECP2, HTR1A, GLI1, HRAS
29negative regulation of transcription from RNA polymerase II promoterGO:0001229.1SALL1, EDNRB, HNF1B, GLI3, FGFR2, FGFR1
30negative regulation of cell proliferationGO:0082859.0HRAS, GLI3, FGFR2, GJA1, RAF1, TBX5
31positive regulation of transcription, DNA-dependentGO:0458939.0PAX6, PAX2, SALL1, TBX5, FOXC1, FOXL2
32positive regulation of transcription from RNA polymerase II promoterGO:0459448.7SOX10, SALL1, FOXC1, FGFR2, GLI1, GLI3

Molecular functions related to developmental disabilities according to GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.9HNF1B, SOX10, HNF4A, GLI1
2fibroblast growth factor-activated receptor activityGO:0050079.9FGFR2, FGFR1, FGFR3
3transcription factor bindingGO:0081349.6PITX2, CREBBP, PAX6, FOXC1, MECP2, TBX5
4fibroblast growth factor bindingGO:0171349.5FGFR1, FGFR3, FGFR2
5sequence-specific DNA bindingGO:0435659.3TBX5, HNF4A, HNF1B, GLI3, FOXP2, FOXL2
6protein homodimerization activityGO:0428038.8PAFAH1B1, FOXP2, FGFR1, FGFR2, HPRT1, HNF1B
7sequence-specific DNA binding transcription factor activityGO:0037008.7CREBBP, PAX6, SALL1, FOXC1, FOXL2, FOXP2
8protein bindingGO:0055153.7RET, SALL1, UBE3A, PAX2, PAX6, PAFAH1B1

Sources for Developmental Disabilities

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS