| Name |
|---|
MRT28 Genemental retardation, non-syndromic, autosomal recessive, 28 |
MRT29 GeneMental retardation, autosomal recessive 29 |
MRT24 Genemental retardation, non-syndromic, autosomal recessive, 24 |
MRT23 Genemental retardation, non-syndromic, autosomal recessive, 23 |
MRT10 Genemental retardation, non-syndromic, autosomal recessive, 10 |
MRXSAB GeneAbidi X-linked mental retardation syndrome |
MRX18 Genemental retardation, X-linked 18 |
MRX11 Genemental retardation, X-linked 11 |
MRX12 Genemental retardation, X-linked 12 |
MRX15 Genemental retardation, X-linked 15 |
MRX14 Genemental retardation, X-linked 14 |
MRX17 Genemental retardation, X-linked 17 |
FMR1 Genefragile X mental retardation 1 The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010] |
FMR3 Genefragile X mental retardation associated 3 |
AMMECR1 GeneAlport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] |
FXR1 Genefragile X mental retardation, autosomal homolog 1 The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
FXR2 Genefragile X mental retardation, autosomal homolog 2 The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008] |
MRX92 GeneMental retardation, X-linked 92 |
MRX95 GeneMental retardation, X-linked 95 |
HBHR Genealpha-thalassemia/mental retardation syndrome, type 1 |
MHW2 GeneMental health wellness 2 |
MHW1 GeneMental health wellness 1 |
MRT17 Genemental retardation, non-syndromic, autosomal recessive, 17 |
MRT16 GeneMental retardation, autosomal recessive 16 |
MRT11 Genemental retardation, non-syndromic, autosomal recessive, 11 |
MRT19 Genemental retardation, non-syndromic, autosomal recessive, 19 |
ATRX Genealpha thalassemia/mental retardation syndrome X-linked The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017] |
CVMRF Genecubitus valgus with mental retardation and unusual facies |
MRX42 Genemental retardation, X-linked 42 |
MRX40 Genemental retardation, X-linked 40 |
MRX49 Genemental retardation, X-linked 49 |
MRT8 Genemental retardation, non-syndromic, autosomal recessive, 8 |
AMMEC GeneAlport syndrome, mental retardation, midface hypoplasia, and elliptocytosis |
MRT9 Genemental retardation, non-syndromic, autosomal recessive, 9 |
LOC100132797 Genefragile X mental retardation, autosomal homolog 1 pseudogene |
DEL11P13 GeneWilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |
NUFIP2 Genenuclear fragile X mental retardation protein interacting protein 2 Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Mar 2025] |
NUFIP1 Genenuclear fragile X mental retardation protein interacting protein 1 This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012] |
MRT25 Genemental retardation, non-syndromic, autosomal recessive, 25 |
MRT4 Genemental retardation, non-syndromic, autosomal recessive, 4 |
MRX37 Genemental retardation, X-linked 37 |
MRX35 Genemental retardation, X-linked 35 |
MRX31 Genemental retardation, X-linked 31 |
MRX39 Genemental retardation, X-linked 39 |
APMR3 GeneAlopecia-mental retardation syndrome 3 |
APMR2 GeneAlopecia with mental retardation syndrome 2 |
APMR1 GeneAlopecia-mental retardation syndrome |
DELXQ21 GeneChoroideremia, deafness, and mental retardation |
CLN8 Geneceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017] |
MRXS17 GeneMental retardation, X-linked, syndromic 17 |
MRXS12 GeneMental retardation, X-linked, syndromic 12 |
MRXS11 Genemental retardation, X-linked, syndromic 11 |
MRT33 GeneMental retardation, autosomal recessive 33 |
MRT32 GeneMental retardation, autosomal recessive 32 |
MRT31 GeneMental retardation, autosomal recessive 31 |
MRT30 GeneMental retardation, autosomal recessive 30 |
MRT35 GeneMental retardation, autosomal recessive 35 |
MRT27 Genemental retardation, non-syndromic, autosomal recessive, 27 |
NUFIP1P Genenuclear fragile X mental retardation protein interacting protein 1 pseudogene |
MRX69 Genemental retardation, X-linked 69 |
MRX64 Genemental retardation, X-linked 64 |
MRX65 Genemental retardation, X-linked 65 |
MRX61 Genemental retardation, X-linked 61 |
MEHMO Genemental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome |
MRXSA GeneArmfield X-linked mental retardation syndrome |
MRXSL GeneLubs X-linked mental retardation syndrome |
MMRFCGU GeneMicrocephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations |
MRX57 Genemental retardation, X-linked 57 |
MRX56 Genemental retardation, X-linked 56 |
MRX51 Genemental retardation, X-linked 51 |
MRX50 Genemental retardation, X-linked 50 |
MRX53 Genemental retardation, X-linked 53 |
MRX52 Genemental retardation, X-linked 52 |
MCS GeneMiles-Carpenter X-linked mental retardation syndrome |
MRXSMP GeneMartin-Probst deafness-mental retardation syndrome |
PRS GenePrieto X-linked mental retardation syndrome |
MRX66 Genemental retardation, X-linked 66 |
MRX67 Genemental retardation, X-linked 67 |
MRX5 Genemental retardation, X-linked 5 |
MRX4 Genemental retardation, X-linked 4 |
MRX7 Genemental retardation, X-linked 7 |
MRX6 Genemental retardation, X-linked 6 (Okinawa type) |
FRAXA Genefragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) |
MRX8 Genemental retardation, X-linked 8 |
MRX82 Genemental retardation, X-linked 82 |
MRX80 Genemental retardation, X-linked 80 |
MRX81 Genemental retardation, X-linked 81 |
MRX86 Genemental retardation, X-linked 86 |
MRX84 Genemental retardation, X-linked 84 |
MRX88 GeneMental retardation, X-linked 88 |
MRX89 GeneMental retardation, X-linked 89 |
CHMRQ GeneCerebellar hypoplasia, mental retardation, and quadrupedal locomotion |
MRX28 Genemental retardation, X-linked 28 |
MRXSCS GeneMental retardation, X-linked, syndromic, Chudley-Schwartz type |
GUST GeneGustavson mental retardation syndrome (with microcephaly, optic |
MRX73 Genemental retardation, X-linked 73 |
MRX71 Genemental retardation, X-linked 71 |
MRX70 Genemental retardation, X-linked 70 |
MRX75 Genemental retardation, X-linked 75 |
MRXS7 Genemental retardation, X-linked, syndromic 7 |
MRSD Genemental retardation-skeletal dysplasia |
MRSS GeneMental retardation, X-linked, with short stature |
MRST GeneMental retardation, severe, with spasticity and tapetoretinal |
MRX77 Genemental retardation, X-linked 77 |
MRX78 Genemental retardation, X-linked 78 |
ANOP1 Geneanophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) |
FMR1NB Genefragile X mental retardation 1 neighbor Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025] |
MRX20 Genemental retardation, X-linked 20 |
MRX23 Genemental retardation, X-linked 23 |
MRX24 Genemental retardation, X-linked 24 |
MRX25 Genemental retardation, X-linked 25 |
MRX26 Genemental retardation, X-linked 26 |
MRX27 Genemental retardation, X-linked 27 |
Mental Deficiency Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Growth deficiency and mental retardation with facial dysmorphism Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth deficiency and mental retardation with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aniridia cerebellar ataxia mental deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aniridia cerebellar ataxia mental deficiency from the curated CTD Gene-Disease Associations dataset. |
Growth mental deficiency syndrome of Myhre Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Growth mental deficiency syndrome of Myhre from the curated CTD Gene-Disease Associations dataset. |
mental retardation, x-linked, with isolated growth hormone deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, with isolated growth hormone deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
growth retardation with deafness and mental retardation due to igf1 deficiency Gene SetFrom OMIM Gene-Disease Associations genes associated with the growth retardation with deafness and mental retardation due to igf1 deficiency phenotype from the curated OMIM Gene-Disease Associations dataset. |
Growth Deficiency And Mental Retardation With Facial Dysmorphism Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth Deficiency And Mental Retardation With Facial Dysmorphism in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Neuraminidase deficiency with beta-galactosidase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset. |
eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
choline deficiency; dna damage; folic acid deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
protein c deficiency; protein s deficiency; venous thrombosis Gene SetFrom GAD Gene-Disease Associations genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene SetFrom GAD Gene-Disease Associations genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene SetFrom GAD Gene-Disease Associations genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Setproteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset. |
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Setproteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset. |
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Setproteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset. |
Defective HK1 causes hexokinase deficiency (HK deficiency) Gene Setproteins participating in the Defective HK1 causes hexokinase deficiency (HK deficiency) pathway from the Reactome Pathways 2024 dataset. |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Sulfite oxidase deficiency due to molybdenum cofactor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
X-linked mental retardation 58 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 58 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arthrogryposis, mental retardation, and seizures Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arthrogryposis, mental retardation, and seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 45 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, syndromic, Claes-Jensen type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, syndromic, Claes-Jensen type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 63 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 63 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation with language impairment and autistic features Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation with language impairment and autistic features phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, turner type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, turner type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 30 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 24 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 28 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-Linked mental retardation 90 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-Linked mental retardation 90 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked syndromic 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked syndromic 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with mental retardation and digital anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with mental retardation and digital anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 23 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 29 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 29 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Syndromic X-linked mental retardation 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Syndromic X-linked mental retardation 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Siderius X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with marfanoid habitus syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with marfanoid habitus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Iris coloboma with ptosis, hypertelorism, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Iris coloboma with ptosis, hypertelorism, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Wilson-Turner X-linked mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Wilson-Turner X-linked mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, raymond type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, raymond type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, syndromic 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, syndromic 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birk Barel mental retardation dysmorphism syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birk Barel mental retardation dysmorphism syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coloboma, uveal, with cleft lip and palate and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coloboma, uveal, with cleft lip and palate and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ZNF711-Related X-linked Mental Retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ZNF711-Related X-linked Mental Retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked rolandic epilepsy with mental retardation and speech dyspraxia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked rolandic epilepsy with mental retardation and speech dyspraxia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 27 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation, with or without seizures, ARX-related Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation, with or without seizures, ARX-related phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 39 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 39 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Focal epilepsy with speech disorder with or without mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Focal epilepsy with speech disorder with or without mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 38 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 38 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 34 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 34 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic 32 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic 32 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, wu type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, wu type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-Linked Mental Retardation 41 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-Linked Mental Retardation 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic, Hedera type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic, Hedera type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked syndromic mental retardation, Nascimento type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked syndromic mental retardation, Nascimento type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aniridia, cerebellar ataxia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aniridia, cerebellar ataxia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 47 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 47 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alacrima, achalasia, and mental retardation syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alacrima, achalasia, and mental retardation syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, nonspecific Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, nonspecific phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation 30 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation 30 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked, syndromic 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked, syndromic 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 19 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 40 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 40 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 41 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 41 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 42 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 42 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 43 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 43 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 44 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 44 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 45 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 45 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal recessive 46 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal recessive 46 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked mental retardation with short stature, hypogonadism and abnormal gait Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked mental retardation with short stature, hypogonadism and abnormal gait phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 93 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 93 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 96 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 96 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 98 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 98 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 99 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 99 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, X-linked 72 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, X-linked 72 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mental retardation, autosomal dominant 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mental retardation, autosomal dominant 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Siderius X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Siderius X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS from the curated CTD Gene-Disease Associations dataset. |
TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease TRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH from the curated CTD Gene-Disease Associations dataset. |
Partington X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Partington X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia from the curated CTD Gene-Disease Associations dataset. |
Alopecia-Mental Retardation Syndrome 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 1 from the curated CTD Gene-Disease Associations dataset. |
Alopecia-Mental Retardation Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alopecia-Mental Retardation Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 30 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 30 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 13 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 23 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 23 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 91 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 91 from the curated CTD Gene-Disease Associations dataset. |
Miles-Carpenter x-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Miles-Carpenter x-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 95 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 95 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 9 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 77 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 77 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic 13 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 13 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic 12 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 12 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 14 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 3 from the curated CTD Gene-Disease Associations dataset. |
Lubs X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lubs X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Disorders from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Fra12a Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Fra12a Type from the curated CTD Gene-Disease Associations dataset. |
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, with Short Stature Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, with Short Stature from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 from the curated CTD Gene-Disease Associations dataset. |
MENTAL HEALTH WELLNESS 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL HEALTH WELLNESS 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Skeletal Dysplasia, and Abducens Palsy from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 20 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 20 from the curated CTD Gene-Disease Associations dataset. |
Mental retardation X-linked syndromic 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation X-linked syndromic 7 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 5 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 4 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 17 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 17 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic, Jarid1c-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Jarid1c-Related from the curated CTD Gene-Disease Associations dataset. |
X-linked mental retardation Gustavson type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease X-linked mental retardation Gustavson type from the curated CTD Gene-Disease Associations dataset. |
Epilepsy, Female-Restricted, with Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Epilepsy, Female-Restricted, with Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 81 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 81 from the curated CTD Gene-Disease Associations dataset. |
Mental retardation, X-linked 14 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked 14 from the curated CTD Gene-Disease Associations dataset. |
Scaphocephaly, Maxillary Retrusion, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Scaphocephaly, Maxillary Retrusion, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type from the curated CTD Gene-Disease Associations dataset. |
Mental retardation-hypotonic facies syndrome, x-linked, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation-hypotonic facies syndrome, x-linked, 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic, Christianson Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Christianson Type from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 84 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 84 from the curated CTD Gene-Disease Associations dataset. |
Mental retardation, X-linked, syndromic 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked, syndromic 5 from the curated CTD Gene-Disease Associations dataset. |
BRACHYDACTYLY-MENTAL RETARDATION SYNDROME Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease BRACHYDACTYLY-MENTAL RETARDATION SYNDROME from the curated CTD Gene-Disease Associations dataset. |
Birk-Barel Mental Retardation Dysmorphism Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Birk-Barel Mental Retardation Dysmorphism Syndrome from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 from the curated CTD Gene-Disease Associations dataset. |
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED 21 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 21 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, with Epilepsy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, with Epilepsy from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 9 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 9 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 78 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 78 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 3 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 73 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 73 from the curated CTD Gene-Disease Associations dataset. |
Abidi X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Abidi X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 4 from the curated CTD Gene-Disease Associations dataset. |
Mental Disorders Diagnosed in Childhood Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Disorders Diagnosed in Childhood from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 82 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 82 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 11 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 11 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 10 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED 96 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 96 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 8 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 8 from the curated CTD Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 2 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 7 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 6 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED 49 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED 49 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, With Panhypopituitarism Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, With Panhypopituitarism from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related from the curated CTD Gene-Disease Associations dataset. |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 from the curated CTD Gene-Disease Associations dataset. |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 52 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 52 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 53 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 53 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 58 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 58 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 from the curated CTD Gene-Disease Associations dataset. |
PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Recessive 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Recessive 1 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 63 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 63 from the curated CTD Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome from the curated CTD Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis from the curated CTD Gene-Disease Associations dataset. |
Armfield X-Linked Mental Retardation Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Armfield X-Linked Mental Retardation Syndrome from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 42 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 42 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 93 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 93 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 94 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 94 from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 from the curated CTD Gene-Disease Associations dataset. |
Cleft Palate, Isolated, And Mental Retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cleft Palate, Isolated, And Mental Retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic, Turner Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic, Turner Type from the curated CTD Gene-Disease Associations dataset. |
Microcephaly with Mental Retardation and Digital Anomalies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Microcephaly with Mental Retardation and Digital Anomalies from the curated CTD Gene-Disease Associations dataset. |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 from the curated CTD Gene-Disease Associations dataset. |
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 72 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 72 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 45 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 45 from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 46 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 46 from the curated CTD Gene-Disease Associations dataset. |
Prieto X-linked mental retardation syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prieto X-linked mental retardation syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked, Syndromic 10 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked, Syndromic 10 from the curated CTD Gene-Disease Associations dataset. |
Martin-Probst Deafness-Mental Retardation Syndrome Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Martin-Probst Deafness-Mental Retardation Syndrome from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, X-Linked 50 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, X-Linked 50 from the curated CTD Gene-Disease Associations dataset. |
Cubitus Valgus with Mental Retardation and Unusual Facies Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cubitus Valgus with Mental Retardation and Unusual Facies from the curated CTD Gene-Disease Associations dataset. |
Mental Retardation, Autosomal Dominant 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mental Retardation, Autosomal Dominant 1 from the curated CTD Gene-Disease Associations dataset. |
MENTAL HEALTH WELLNESS 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MENTAL HEALTH WELLNESS 2 from the curated CTD Gene-Disease Associations dataset. |
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked from the curated CTD Gene-Disease Associations dataset. |
Parkinsonism, early onset with mental retardation Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Parkinsonism, early onset with mental retardation from the curated CTD Gene-Disease Associations dataset. |
Mental Disorders Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Mental Disorders in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Mental Competency Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Mental Competency in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
Mental Processes Gene SetFrom dbGAP Gene-Trait Associations genes associated with the trait Mental Processes in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. |
developmental disorder of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease developmental disorder of mental health from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
disease of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores genes involed in the disease disease of mental health from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. |
mental depression Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease mental depression in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
developmental disorder of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease developmental disorder of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
disease of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores genes associated with the disease disease of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. |
mental depression Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease mental depression in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
non-specific x-linked mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease non-specific x-linked mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
alcohol-induced mental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease alcohol-induced mental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
disease of mental health Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease disease of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
developmental disorder of mental health Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease developmental disorder of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
drug-induced mental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores genes co-occuring with the disease drug-induced mental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. |
mental development Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental development in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental disorder Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; rett syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; rett syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; craniofacial abnormalities; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
language development disorders; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease language development disorders; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
confusion; confusion (mental); dementia; disease progression Gene SetFrom GAD Gene-Disease Associations genes associated with the disease confusion; confusion (mental); dementia; disease progression in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; mental retardation; spinocerebellar degenerations; tremor in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental disorders Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
fragile x syndrome; fragile x syndromes; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease fragile x syndrome; fragile x syndromes; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; muscular dystrophy, duchenne Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; muscular dystrophy, duchenne in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
violent offenders with mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease violent offenders with mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
schizophrenia; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease schizophrenia; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
leukomalacia, periventricular; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease leukomalacia, periventricular; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental illness Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental illness in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
non-syndromic x-linked mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease non-syndromic x-linked mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
epilepsy and mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease epilepsy and mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental processes Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental processes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
brain diseases; mental retardation, x-linked Gene SetFrom GAD Gene-Disease Associations genes associated with the disease brain diseases; mental retardation, x-linked in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease abnormalities, multiple; ectodermal dysplasia; heart defects, congenital; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
congenital abnormalities; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease congenital abnormalities; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
learning disorders; memory disorders; mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease learning disorders; memory disorders; mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
x-linked mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease x-linked mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental competency Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental competency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation, x-linked Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation, x-linked in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease carbohydrate metabolism, inborn errors; dyskinesias; dyskinetic syndrome; epilepsy; mental retardation; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation, x-linked; syndrome Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation, x-linked; syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation; microcephaly Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation; microcephaly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental retardation Gene SetFrom GAD Gene-Disease Associations genes associated with the disease mental retardation in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. |
mental Gene SetFrom GeneRIF Biological Term Annotations genes co-occuring with the biological term mental in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. |
mental depression Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease mental depression in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
drug-induced mental disorder Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease drug-induced mental disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
alcohol-induced mental disorder Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease alcohol-induced mental disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
developmental disorder of mental health Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease developmental disorder of mental health in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
disease of mental health Gene SetFrom GWASdb SNP-Disease Associations genes associated with the disease disease of mental health in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. |
mental deterioration Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the mental deterioration phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of higher mental function Gene SetFrom GWASdb SNP-Phenotype Associations genes associated with the abnormality of higher mental function phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. |
abnormality of higher mental function Gene SetFrom HPO Gene-Disease Associations genes associated with the abnormality of higher mental function phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
mental deterioration Gene SetFrom HPO Gene-Disease Associations genes associated with the mental deterioration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. |
Mental Processes Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Processes phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Disorders Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Competency Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Competency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Health Services Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Health Services phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Fatigue Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Fatigue phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Retardation, X-Linked Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Retardation, X-Linked phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Health Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Health phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Community Mental Health Services Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Community Mental Health Services phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Retardation Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Retardation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Recall Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Recall phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Mental Status Schedule Gene SetFrom HuGE Navigator Gene-Phenotype Associations genes associated with the Mental Status Schedule phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. |
Nuclear fragile X mental retardation-interacting protein 1, conserved domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Nuclear fragile X mental retardation-interacting protein 1, conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
MENTAL domain Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the MENTAL domain protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
Fragile X mental retardation protein family Gene SetFrom InterPro Predicted Protein Domain Annotations proteins predicted to have the Fragile X mental retardation protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset. |
mental retardation, severe, with spasticity and tapetoretinal degeneration Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, severe, with spasticity and tapetoretinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 9/26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 9/26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 84 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 84 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 81 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 81 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 82 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 82 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 89 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 89 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 29 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 29 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 25 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 25 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation with language impairment and autistic features Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation with language impairment and autistic features phenotype from the curated OMIM Gene-Disease Associations dataset. |
?rolandic epilepsy, mental retardation, and speech dyspraxia Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?rolandic epilepsy, mental retardation, and speech dyspraxia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, snyder-robinson type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, snyder-robinson type phenotype from the curated OMIM Gene-Disease Associations dataset. |
skeletal defects, genital hypoplasia, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the skeletal defects, genital hypoplasia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 30/47 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 30/47 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked syndromic 10 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked syndromic 10 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, anterior maxillary protrusion, and strabismus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, anterior maxillary protrusion, and strabismus phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation syndrome, x-linked, siderius type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation syndrome, x-linked, siderius type phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha-thalassemia/mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha-thalassemia/mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 40 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 40 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 44 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 44 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 46 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 46 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, fraxe type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, fraxe type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation syndrome, x-linked, armfield type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation syndrome, x-linked, armfield type phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked, syndromic 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked, syndromic 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia Gene SetFrom OMIM Gene-Disease Associations genes associated with the corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, truncal obesity, retinal dystrophy, and micropenis Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, truncal obesity, retinal dystrophy, and micropenis phenotype from the curated OMIM Gene-Disease Associations dataset. |
alacrima, achalasia, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the alacrima, achalasia, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
hyperphosphatasia with mental retardation syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the hyperphosphatasia with mental retardation syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?arthrogryposis, mental retardation, and seizures Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?arthrogryposis, mental retardation, and seizures phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked, syndromic, hedera type Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked, syndromic, hedera type phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked 91 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked 91 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 90 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 90 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 98 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 98 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 32 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 32 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, shashi type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, shashi type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation-hypotonic facies syndrome, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation-hypotonic facies syndrome, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type b, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 8 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 8 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal dominant 22 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal dominant 22 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 30 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 30 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 78 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 78 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 72 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 72 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 32 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 32 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 52 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 52 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 53 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 53 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 50 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 50 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 58 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 58 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic, claes-jensen type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic, claes-jensen type phenotype from the curated OMIM Gene-Disease Associations dataset. |
waisman parkinsonism-mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the waisman parkinsonism-mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, nascimento-type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, nascimento-type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 21/34 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 21/34 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 phenotype from the curated OMIM Gene-Disease Associations dataset. |
choroideremia, deafness, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the choroideremia, deafness, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 17 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 17 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 10/20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 10/20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
?stocco dos santos x-linked mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?stocco dos santos x-linked mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
birk-barel mental retardation dysmorphism syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the birk-barel mental retardation dysmorphism syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
{mental health wellness-1} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {mental health wellness-1} phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 77 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 77 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 9 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 9 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic 15 (cabezas type) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic 15 (cabezas type) phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
brachydactyly-mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the brachydactyly-mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, with short stature Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, with short stature phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 45 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 45 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 42 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 42 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive 43 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive 43 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked, syndromic, chudley-schwartz type, Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked, syndromic, chudley-schwartz type, phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 92 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 92 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 93 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 93 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 96 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 96 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 97 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 97 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 94 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 94 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 95 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 95 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 99 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 99 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 39 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 39 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 38 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 38 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 31 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 31 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 33 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 33 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 35 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 35 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 34 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 34 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 36 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 36 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation and microcephaly with pontine and cerebellar hypoplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation and microcephaly with pontine and cerebellar hypoplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alopecia-mental retardation syndrome 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alopecia-mental retardation syndrome 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
scaphocephaly, maxillary retrusion, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the scaphocephaly, maxillary retrusion, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 21 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 21 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 24 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 24 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 26 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 26 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant 29 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant 29 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation-skeletal dysplasia Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation-skeletal dysplasia phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 13 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 13 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 12 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 12 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 16 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 16 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 15 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 15 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 19 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 19 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 18 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 18 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, raymond type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, raymond type phenotype from the curated OMIM Gene-Disease Associations dataset. |
wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Gene SetFrom OMIM Gene-Disease Associations genes associated with the wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome phenotype from the curated OMIM Gene-Disease Associations dataset. |
cubitus valgus with mental retardation and unusual facies Gene SetFrom OMIM Gene-Disease Associations genes associated with the cubitus valgus with mental retardation and unusual facies phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia, nonprogressive, with mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia, nonprogressive, with mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
{mental health wellness-2} Gene SetFrom OMIM Gene-Disease Associations genes associated with the {mental health wellness-2} phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, abidi type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, abidi type phenotype from the curated OMIM Gene-Disease Associations dataset. |
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the microcephaly with or without chorioretinopathy, lymphedema, or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, with or without nystagmus Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, with or without nystagmus phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 6 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 3 phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 2 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic 7 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic 7 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alpha-thalassemia/mental retardation syndrome, type 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the alpha-thalassemia/mental retardation syndrome, type 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?hyperphosphatasia with mental retardation syndrome 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?hyperphosphatasia with mental retardation syndrome 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 41 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 41 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 63 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 63 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive, 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive, 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked 101 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked 101 phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, x-linked 100 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, x-linked 100 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, turner type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, turner type phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 49 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 49 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 41 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 41 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 42 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 42 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 45 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 45 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 46 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 46 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, lubs type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, lubs type phenotype from the curated OMIM Gene-Disease Associations dataset. |
epilepsy, focal, with speech disorder and with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the epilepsy, focal, with speech disorder and with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal dominant 11 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal dominant 11 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 23 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 23 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 20 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 20 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 29 and others Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 29 and others phenotype from the curated OMIM Gene-Disease Associations dataset. |
ichthyosis, spastic quadriplegia, and mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the ichthyosis, spastic quadriplegia, and mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked 3 (methylmalonic acidemia and homocysteinemia, cblx type ) phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type b, 5 phenotype from the curated OMIM Gene-Disease Associations dataset. |
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal recessive 1 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal recessive 1 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant, 27 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant, 27 phenotype from the curated OMIM Gene-Disease Associations dataset. |
alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis Gene SetFrom OMIM Gene-Disease Associations genes associated with the alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis phenotype from the curated OMIM Gene-Disease Associations dataset. |
muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 Gene SetFrom OMIM Gene-Disease Associations genes associated with the muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, fra12a type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, fra12a type phenotype from the curated OMIM Gene-Disease Associations dataset. |
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation Gene SetFrom OMIM Gene-Disease Associations genes associated with the megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation phenotype from the curated OMIM Gene-Disease Associations dataset. |
?mental retardation, autosomal recessive, 37 Gene SetFrom OMIM Gene-Disease Associations genes associated with the ?mental retardation, autosomal recessive, 37 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, autosomal dominant, 28 Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, autosomal dominant, 28 phenotype from the curated OMIM Gene-Disease Associations dataset. |
mental retardation, x-linked syndromic, christianson type Gene SetFrom OMIM Gene-Disease Associations genes associated with the mental retardation, x-linked syndromic, christianson type phenotype from the curated OMIM Gene-Disease Associations dataset. |
Mental Depression Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Depression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mild Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mild Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mandibulofacial Dysostosis With Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mandibulofacial Dysostosis With Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Disorders, Severe Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Disorders, Severe in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Organic Mental Disorders, Substance-Induced Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Organic Mental Disorders, Substance-Induced in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Profound Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Profound Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Status Changes Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Status Changes in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Impairment Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Dandy-Walker Malformation With Mental Retardation, Basal Ganglia Disease, And Seizures in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Handicap Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Handicap in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Partington X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Partington X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Miles-Carpenter X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Miles-Carpenter X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Prieto X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Prieto X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Lubs X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Lubs X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Duchenne Muscular Dystrophy, Mental Retardation, And Absence Of Erg B-Wave in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Siderius X-Linked Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Siderius X-Linked Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Condensation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Mental Condensation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Other Alcohol-Induced Mental Disorders Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Other Alcohol-Induced Mental Disorders in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alacrima, Achalasia, And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alacrima, Achalasia, And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Alpha-Thalassemia/Mental Retardation Syndrome (301040) Is An Allelic Disorder in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Hydronephrosis, Congenital, With Cleft Palate, Characteristic Facies, Hypotonia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Organic Mental Disorders, Psychotic Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Organic Mental Disorders, Psychotic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Birk-Barel Mental Retardation Dysmorphism Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Birk-Barel Mental Retardation Dysmorphism Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Martin-Probst Deafness-Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Martin-Probst Deafness-Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Cryohydrocytosis, Stomatin-Deficient, With Mental Retardation, Seizures, Cataracts, And Massive Hepatosplenomegaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, X-Linked in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Skeletal Defects, Genital Hypoplasia, And Mental Retardation Gene SetFrom DisGeNET Gene-Disease Associations genes associated with the disease Skeletal Defects, Genital Hypoplasia, And Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. |
Mental Deterioration Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mental Deterioration in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Palmo-Mental Reflex Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Palmo-Mental Reflex in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormal Mental State Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormal Mental State in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Mental Retardation Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Taste Perception (Mental Process) Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Taste Perception (Mental Process) in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
Abnormality Of Higher Mental Function Gene SetFrom DisGeNET Gene-Phenotype Associations genes associated with the phenotype Abnormality Of Higher Mental Function in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset. |
abnormal mental foramen morphology Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the abnormal mental foramen morphology phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
absent mental foramen Gene SetFrom MGI Mouse Phenotype Associations 2023 gene mutations causing the absent mental foramen phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset. |
Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) Gene Setproteins participating in the Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) pathway from the Reactome Pathways 2024 dataset. |
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) Gene Setproteins participating in the Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) pathway from the Reactome Pathways 2024 dataset. |
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) Gene Setproteins participating in the Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) pathway from the Reactome Pathways 2024 dataset. |
Disease of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Disease of mental health from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Developmental disorder of mental health Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Developmental disorder of mental health from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Curated Gene-Disease Association Evidence Scores 2025 genes involed in the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. |
Disease of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Disease of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental disorder of mental health Gene SetFrom DISEASES Experimental Gene-Disease Association Evidence Scores 2025 genes associated with the disease Developmental disorder of mental health in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. |
Disease of mental health Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Disease of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Developmental disorder of mental health Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Developmental disorder of mental health in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alopecia-mental retardation syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alopecia-mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
drug-induced mental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease drug-induced mental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alcohol-induced mental disorder Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alcohol-induced mental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Nonprogressive cerebellar ataxia with mental retardation Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Nonprogressive cerebellar ataxia with mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Cerebellar ataxia, mental retardation and dysequlibrium syndrome Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease Cerebellar ataxia, mental retardation and dysequlibrium syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
alopecia-mental retardation syndrome 1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease alopecia-mental retardation syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
X-linked mental retardation-hypotonic facies syndrome-1 Gene SetFrom DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 genes co-occuring with the disease X-linked mental retardation-hypotonic facies syndrome-1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. |
Mental deterioration Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mental deterioration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mental disorder Gene SetFrom ClinVar Gene-Phenotype Associations 2025 genes associated with the Mental disorder phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset. |
Mental development (prenatal lead exposure interaction) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mental development (prenatal lead exposure interaction) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Mental health related quality of life Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mental health related quality of life phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Mental health study participation (provided email address) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mental health study participation (provided email address) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Mental health study participation (completed survey) Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Mental health study participation (completed survey) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Abstraction and mental flexibility Gene SetFrom GWAS Catalog SNP-Phenotype Associations 2025 genes associated with the Abstraction and mental flexibility phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. |
Trifunctional protein deficiency with myopathy and neuropathy Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Trifunctional protein deficiency with myopathy and neuropathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Bifunctional peroxisomal enzyme deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Bifunctional peroxisomal enzyme deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked ichthyosis with steryl-sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked ichthyosis with steryl-sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Galactosylceramide beta-galactosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Galactosylceramide beta-galactosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated 17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated 17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Endplate acetylcholinesterase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Endplate acetylcholinesterase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sepiapterin reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sepiapterin reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carbonic anhydrase va deficiency, hyperammonemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carbonic anhydrase va deficiency, hyperammonemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ribose-5-phosphate isomerase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ribose-5-phosphate isomerase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Kininogen deficiency, total Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Kininogen deficiency, total phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 6-pyruvoyl-tetrahydropterin synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 9 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-terminal acetyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Creatine deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Birbeck granule deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
SCID due to ADA deficiency, delayed onset Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the SCID due to ADA deficiency, delayed onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Properdin deficiency, X-linked phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE II Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE II phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor d deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor d deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia due to protein S deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia due to protein S deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methylmalonyl-CoA epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methylmalonyl-CoA epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 8 deficiency type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 8 deficiency type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Testosterone 17-beta-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Testosterone 17-beta-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acyl-CoA dehydrogenase family, member 9, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acyl-CoA dehydrogenase family, member 9, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 2-methylbutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 2-methylbutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of isobutyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of isobutyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cerebral folate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoserine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoserine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Severe combined immunodeficiency due to ADA deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Severe combined immunodeficiency due to ADA deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine acylcarnitine translocase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Partial hypoxanthine-guanine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinyl-CoA acetoacetate transferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinyl-CoA acetoacetate transferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
HNSHA due to aldolase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the HNSHA due to aldolase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet-activating factor acetylhydrolase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet-activating factor acetylhydrolase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary C1 esterase inhibitor deficiency - dysfunctional factor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lipase deficiency combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lipase deficiency combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
5-Oxoprolinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 5-Oxoprolinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucocorticoid deficiency with achalasia Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucocorticoid deficiency with achalasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proopiomelanocortin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proopiomelanocortin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Intrinsic factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Intrinsic factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
21-hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 21-hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutaryl-CoA oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutaryl-CoA oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thiopurine methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thiopurine methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
METHYLCOBALAMIN DEFICIENCY, cblG TYPE Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the METHYLCOBALAMIN DEFICIENCY, cblG TYPE phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carnitine palmitoyltransferase II deficiency, infantile Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lactate dehydrogenase b deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lactate dehydrogenase b deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 18 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 17 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 16 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 14 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 13 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 12 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 12 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 11 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 10 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of 3-hydroxyacyl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen deficiency, type I Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen deficiency, type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group C Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group C phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Molybdenum cofactor deficiency, complementation group A Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Molybdenum cofactor deficiency, complementation group A phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Biotinidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Biotinidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant isolated somatotropin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant isolated somatotropin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypohidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypohidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of phosphoserine phosphatase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of phosphoserine phosphatase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isolated growth hormone deficiency type 1B Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isolated growth hormone deficiency type 1B phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyryl-CoA dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyryl-CoA dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anhidrotic ectodermal dysplasia with immune deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anhidrotic ectodermal dysplasia with immune deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 Methylcrotonyl-CoA carboxylase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 Methylcrotonyl-CoA carboxylase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hyaluronoglucosaminidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hyaluronoglucosaminidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sulfite oxidase deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sulfite oxidase deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Plasminogen activator inhibitor type 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Plasminogen activator inhibitor type 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase phosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 22 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 22 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 20 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 21 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monoamine oxidase A deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monoamine oxidase A deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor V deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor V deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenine phosphoribosyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenine phosphoribosyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ehlers-Danlos-like syndrome due to tenascin-X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ehlers-Danlos-like syndrome due to tenascin-X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamate formiminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamate formiminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypoglycemia with deficiency of glycogen synthetase in the liver Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LEUKOCYTE ADHESION DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LEUKOCYTE ADHESION DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Follicle-stimulating hormone deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Follicle-stimulating hormone deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ganglioside sialidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ganglioside sialidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
C1q deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the C1q deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Interferon gamma receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Interferon gamma receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Platelet glycoprotein IV deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Platelet glycoprotein IV deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
N-acetylaspartate deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the N-acetylaspartate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Triosephosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Triosephosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gaucher disease, atypical, due to saposin C deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gaucher disease, atypical, due to saposin C deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Aromatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Aromatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor II deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor II deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, a subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, a subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex III deficiency, nuclear type 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex III deficiency, nuclear type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-methylcrotonyl CoA carboxylase 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia due to hexokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia due to hexokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Multiple sulfatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Multiple sulfatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosteroid-binding globulin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosteroid-binding globulin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined oxidative phosphorylation deficiency 15 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined oxidative phosphorylation deficiency 15 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Corticosterone methyloxidase type 2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Corticosterone methyloxidase type 2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 9 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 9 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Holocarboxylase synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
2,4-Dienoyl-CoA reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 2,4-Dienoyl-CoA reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the LIPOPROTEIN(a) DEFICIENCY, CONGENITAL phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerate kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerate kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ataxia with vitamin E deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of galactokinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of galactokinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
ACTH deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the ACTH deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
PROPERDIN DEFICIENCY, TYPE III Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the PROPERDIN DEFICIENCY, TYPE III phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Carboxylesterase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Carboxylesterase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Purine-nucleoside phosphorylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Purine-nucleoside phosphorylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Neonatal intrahepatic cholestasis caused by citrin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Neonatal intrahepatic cholestasis caused by citrin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Antithrombin III deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Antithrombin III deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Inosine triphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Inosine triphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Growth hormone deficiency with pituitary anomalies Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Growth hormone deficiency with pituitary anomalies phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ulna and fibula absence of with severe limb deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ulna and fibula absence of with severe limb deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocysteinemia due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocysteinemia due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of pyrroline-5-carboxylate reductase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of pyrroline-5-carboxylate reductase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Immunodeficiency due to ficolin 3 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Immunodeficiency due to ficolin 3 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sarcosine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sarcosine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor v and factor viii, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor v and factor viii, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Branched-chain ketoacid dehydrogenase kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Branched-chain ketoacid dehydrogenase kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
L-ferritin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the L-ferritin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Medium-chain acyl-coenzyme A dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Medium-chain acyl-coenzyme A dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hepatic lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hepatic lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor X deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor X deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypercarotenemia and vitamin a deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypercarotenemia and vitamin a deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E3-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E3-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor IX deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor IX deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Alpha-fetoprotein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Alpha-fetoprotein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hypermethioninemia due to adenosine kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hypermethioninemia due to adenosine kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of iodide peroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of iodide peroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycosylphosphatidylinositol deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycosylphosphatidylinositol deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Vitamin k-dependent clotting factors, combined deficiency of, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Vitamin k-dependent clotting factors, combined deficiency of, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency type 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital lactase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital lactase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Caspase-8 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Caspase-8 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Phosphoglycerate kinase 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Phosphoglycerate kinase 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anaphylotoxin inactivator deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anaphylotoxin inactivator deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cytochrome-c oxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Enterokinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Enterokinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Coenzyme Q10 deficiency, primary, 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Coenzyme Q10 deficiency, primary, 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Erythrocyte amp deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Erythrocyte amp deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor VII deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor VII deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Autosomal dominant CD11C+/CD1C+ dendritic cell deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Apolipoprotein a-i deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Apolipoprotein a-i deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glut1 deficiency syndrome 1, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glut1 deficiency syndrome 1, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gamma-aminobutyric acid transaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gamma-aminobutyric acid transaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myeloperoxidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myeloperoxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial phosphate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial phosphate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor XI deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor XI deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Porphobilinogen synthase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Porphobilinogen synthase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Very long chain acyl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Very long chain acyl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
IRAK4 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the IRAK4 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leukocyte adhesion deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leukocyte adhesion deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscular dystrophy, congenital, due to ITGA7 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscular dystrophy, congenital, due to ITGA7 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cortisone reductase deficiency 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cortisone reductase deficiency 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Arginine:glycine amidinotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Arginine:glycine amidinotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate kinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate kinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Methionine adenosyltransferase deficiency, autosomal dominant Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Methionine adenosyltransferase deficiency, autosomal dominant phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Muscle AMP deaminase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Muscle AMP deaminase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropyrimidinase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropyrimidinase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dimethylglycine dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dimethylglycine dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of hydroxymethylglutaryl-CoA lyase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of hydroxymethylglutaryl-CoA lyase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Monocyte and dendritic cell deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Monocyte and dendritic cell deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-alpha deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-alpha deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Isovaleryl-CoA dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Isovaleryl-CoA dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd59 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd59 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine aminotransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine aminotransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sphingolipid activator protein 1 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sphingolipid activator protein 1 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of ferroxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of ferroxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of steroid 11-beta-monooxygenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of steroid 11-beta-monooxygenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Lysosomal acid lipase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dopamine beta hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dopamine beta hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Butyrylcholinesterase deficiency, fluoride-resistant, japanese type Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Butyrylcholinesterase deficiency, fluoride-resistant, japanese type phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
UDPglucose-4-epimerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the UDPglucose-4-epimerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Homocystinuria due to MTHFR deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Homocystinuria due to MTHFR deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of alpha-mannosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of alpha-mannosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Insulin-like growth factor I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Insulin-like growth factor I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Leigh syndrome due to mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Leigh syndrome due to mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 4 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 3 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 2 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate carboxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate carboxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Gluthathione synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fumarase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fumarase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of transaldolase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of transaldolase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial pyruvate carrier deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial pyruvate carrier deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pyruvate dehydrogenase E1-beta deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pyruvate dehydrogenase E1-beta deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MASP2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the MASP2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Argininosuccinate lyase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Argininosuccinate lyase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prekallikrein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prekallikrein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Chitotriosidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Chitotriosidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Anti-plasmin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prothrombin deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prothrombin deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial trifunctional protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial trifunctional protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
GTP cyclohydrolase I deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the GTP cyclohydrolase I deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of malonyl-CoA decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of malonyl-CoA decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
3 beta-Hydroxysteroid dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 3 beta-Hydroxysteroid dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Succinate-semialdehyde dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Succinate-semialdehyde dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
X-linked agammaglobulinemia with growth hormone deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the X-linked agammaglobulinemia with growth hormone deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Okt4 epitope deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Okt4 epitope deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of acetyl-CoA acetyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of acetyl-CoA acetyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mitochondrial complex II deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mitochondrial complex II deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mineralocorticoid deficiency, isolated Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mineralocorticoid deficiency, isolated phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement 1s deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement 1s deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Dihydropteridine reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Dihydropteridine reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Mannose-binding protein deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Mannose-binding protein deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glucose transporter type 1 deficiency syndrome Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glucose transporter type 1 deficiency syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Myd88 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Myd88 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cd8 deficiency, familial Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cd8 deficiency, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Congenital muscular dystrophy due to partial LAMA2 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Congenital muscular dystrophy due to partial LAMA2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Acid-labile subunit deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Acid-labile subunit deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fructose-biphosphatase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fructose-biphosphatase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Megaloblastic anemia due to dihydrofolate reductase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Megaloblastic anemia due to dihydrofolate reductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Complement factor B deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Complement factor B deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Obesity, severe, due to leptin deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Obesity, severe, due to leptin deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Beta-hydroxyisobutyryl-CoA deacylase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Beta-hydroxyisobutyryl-CoA deacylase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hereditary factor VIII deficiency disease Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hereditary factor VIII deficiency disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Proline dehydrogenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Proline dehydrogenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor H deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor H deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glutamine deficiency, congenital Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glutamine deficiency, congenital phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of aromatic-L-amino-acid decarboxylase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of aromatic-L-amino-acid decarboxylase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Glycine N-methyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Glycine N-methyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Ornithine carbamoyltransferase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Ornithine carbamoyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Sucrase-isomaltase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Sucrase-isomaltase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Cholesterol monooxygenase (side-chain cleaving) deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Cholesterol monooxygenase (side-chain cleaving) deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Fucosyltransferase 6 deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Fucosyltransferase 6 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Asparagine synthetase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Adenylate kinase deficiency, hemolytic anemia due to Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Adenylate kinase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 5 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Pituitary hormone deficiency, combined, 6 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Pituitary hormone deficiency, combined, 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of butyrylcholine esterase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of butyrylcholine esterase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Protein S deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Protein S deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of glycerol kinase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of glycerol kinase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of xanthine oxidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of xanthine oxidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Urocanate hydratase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Urocanate hydratase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
4-Hydroxyphenylpyruvate dioxygenase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the 4-Hydroxyphenylpyruvate dioxygenase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of factor V and factor VIII, 1 Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of factor V and factor VIII, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Factor xiii, b subunit, deficiency of Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Factor xiii, b subunit, deficiency of phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Combined deficiency of sialidase AND beta galactosidase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Combined deficiency of sialidase AND beta galactosidase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of (R)-20-hydroxysteroid dehydrogenase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of (R)-20-hydroxysteroid dehydrogenase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Prolidase deficiency Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Prolidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of beta-ureidopropionase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of beta-ureidopropionase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
Deficiency of guanidinoacetate methyltransferase Gene SetFrom ClinVar Gene-Phenotype Associations genes associated with the Deficiency of guanidinoacetate methyltransferase phenotype from the curated ClinVar Gene-Phenotype Associations dataset. |
MYD88 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease MYD88 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal from the curated CTD Gene-Disease Associations dataset. |
Anemia, Iron-Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anemia, Iron-Deficiency from the curated CTD Gene-Disease Associations dataset. |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital adrenal hyperplasia due to 21 hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Platelet Glycoprotein IV Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Platelet Glycoprotein IV Deficiency from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Phosphate Carrier Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Phosphate Carrier Deficiency from the curated CTD Gene-Disease Associations dataset. |
Leukocyte Adhesion Deficiency, Type III Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Leukocyte Adhesion Deficiency, Type III from the curated CTD Gene-Disease Associations dataset. |
Prekallikrein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Prekallikrein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylenetetrahydrofolate reductase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylenetetrahydrofolate reductase deficiency from the curated CTD Gene-Disease Associations dataset. |
6-pyruvoyl-tetrahydropterin synthase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 6-pyruvoyl-tetrahydropterin synthase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor XI Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor XI Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine palmitoyl transferase 1A deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine palmitoyl transferase 1A deficiency from the curated CTD Gene-Disease Associations dataset. |
Preaxial deficiency, postaxial polydactyly and hypospadias Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Preaxial deficiency, postaxial polydactyly and hypospadias from the curated CTD Gene-Disease Associations dataset. |
THYROTROPIN-RELEASING HORMONE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THYROTROPIN-RELEASING HORMONE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Carbamoyl-Phosphate Synthase I Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carbamoyl-Phosphate Synthase I Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Tyrosine Kinase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Tyrosine Kinase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Properdin deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Properdin deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COENZYME Q10 DEFICIENCY, PRIMARY, 1 from the curated CTD Gene-Disease Associations dataset. |
Glutathione synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Proopiomelanocortin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Proopiomelanocortin Deficiency from the curated CTD Gene-Disease Associations dataset. |
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Glucocorticoid Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glucocorticoid Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Intrinsic Factor Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Intrinsic Factor Deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenosine monophosphate deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenosine monophosphate deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
alpha 1-Antitrypsin Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease alpha 1-Antitrypsin Deficiency from the curated CTD Gene-Disease Associations dataset. |
Combined Oxidative Phosphorylation Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Combined Oxidative Phosphorylation Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Deficiency, Type I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Deficiency, Type I from the curated CTD Gene-Disease Associations dataset. |
IgA Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease IgA Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lipase deficiency combined Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lipase deficiency combined from the curated CTD Gene-Disease Associations dataset. |
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
DNA Repair-Deficiency Disorders Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset. |
Congenital thrombotic disease, due to Protein C deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Congenital thrombotic disease, due to Protein C deficiency from the curated CTD Gene-Disease Associations dataset. |
Enterokinase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Enterokinase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine Palmitoyltransferase II Deficiency, Late-Onset Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Late-Onset from the curated CTD Gene-Disease Associations dataset. |
Lactase Deficiency, Congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lactase Deficiency, Congenital from the curated CTD Gene-Disease Associations dataset. |
Lecithin Acyltransferase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lecithin Acyltransferase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Interleukin 2 Receptor, Alpha, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Interleukin 2 Receptor, Alpha, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO from the curated CTD Gene-Disease Associations dataset. |
Beta ketothiolase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Beta ketothiolase deficiency from the curated CTD Gene-Disease Associations dataset. |
Transaldolase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Transaldolase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Anti-plasmin deficiency, congenital Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Anti-plasmin deficiency, congenital from the curated CTD Gene-Disease Associations dataset. |
Succinyl-CoA:3-oxoacid CoA transferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Succinyl-CoA:3-oxoacid CoA transferase deficiency from the curated CTD Gene-Disease Associations dataset. |
CD8 Deficiency, Familial Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease CD8 Deficiency, Familial from the curated CTD Gene-Disease Associations dataset. |
Neuraminidase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neuraminidase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Folic Acid Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Folic Acid Deficiency from the curated CTD Gene-Disease Associations dataset. |
Lysosomal acid lipase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Lysosomal acid lipase deficiency from the curated CTD Gene-Disease Associations dataset. |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylate Kinase Deficiency, Hemolytic Anemia Due To from the curated CTD Gene-Disease Associations dataset. |
Vitamin B 12 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin B 12 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type II from the curated CTD Gene-Disease Associations dataset. |
Neurodegeneration Due To Cerebral Folate Transport Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Neurodegeneration Due To Cerebral Folate Transport Deficiency from the curated CTD Gene-Disease Associations dataset. |
Familial HDL deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Familial HDL deficiency from the curated CTD Gene-Disease Associations dataset. |
Carnitine-Acylcarnitine Translocase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Carnitine-Acylcarnitine Translocase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Trifunctional Protein Deficiency With Myopathy And Neuropathy Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trifunctional Protein Deficiency With Myopathy And Neuropathy from the curated CTD Gene-Disease Associations dataset. |
Methylcobalamin Deficiency, CblG Type Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylcobalamin Deficiency, CblG Type from the curated CTD Gene-Disease Associations dataset. |
Flaujeac factor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Flaujeac factor deficiency from the curated CTD Gene-Disease Associations dataset. |
Ribose 5-Phosphate Isomerase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ribose 5-Phosphate Isomerase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate dehydrogenase phosphatase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate dehydrogenase phosphatase deficiency from the curated CTD Gene-Disease Associations dataset. |
VLCAD deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease VLCAD deficiency from the curated CTD Gene-Disease Associations dataset. |
18-Hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 18-Hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Creatine deficiency, X-linked Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Creatine deficiency, X-linked from the curated CTD Gene-Disease Associations dataset. |
Mitochondrial Complex III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Mitochondrial Complex III Deficiency from the curated CTD Gene-Disease Associations dataset. |
PROPROTEIN CONVERTASE 1/3 DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease PROPROTEIN CONVERTASE 1/3 DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY from the curated CTD Gene-Disease Associations dataset. |
dopamine beta hydroxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease dopamine beta hydroxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Ehlers-Danlos syndrome caused by tenascin-X deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ehlers-Danlos syndrome caused by tenascin-X deficiency from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset. |
Ornithine Carbamoyltransferase Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ornithine Carbamoyltransferase Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Protein Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Protein Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor 8 deficiency, acquired Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor 8 deficiency, acquired from the curated CTD Gene-Disease Associations dataset. |
3-methylcrotonyl CoA carboxylase 2 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-methylcrotonyl CoA carboxylase 2 deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I from the curated CTD Gene-Disease Associations dataset. |
Adenylosuccinate lyase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Adenylosuccinate lyase deficiency from the curated CTD Gene-Disease Associations dataset. |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT from the curated CTD Gene-Disease Associations dataset. |
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of from the curated CTD Gene-Disease Associations dataset. |
Thiopurine S methyltranferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Thiopurine S methyltranferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxyacyl-CoA Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Isolated Growth Hormone Deficiency, Type IB Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Isolated Growth Hormone Deficiency, Type IB from the curated CTD Gene-Disease Associations dataset. |
Vitamin A Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin A Deficiency from the curated CTD Gene-Disease Associations dataset. |
Molybdenum cofactor deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Molybdenum cofactor deficiency from the curated CTD Gene-Disease Associations dataset. |
Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Kinase 1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Kinase 1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II from the curated CTD Gene-Disease Associations dataset. |
Severe combined immunodeficiency due to adenosine deaminase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Severe combined immunodeficiency due to adenosine deaminase deficiency from the curated CTD Gene-Disease Associations dataset. |
Multiple Acyl Coenzyme A Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Multiple Acyl Coenzyme A Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 from the curated CTD Gene-Disease Associations dataset. |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 from the curated CTD Gene-Disease Associations dataset. |
Plasminogen Activator Inhibitor-1 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Plasminogen Activator Inhibitor-1 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase E2 Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase E2 Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoglycerate Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoglycerate Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin D Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin D Deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor V Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor V Deficiency from the curated CTD Gene-Disease Associations dataset. |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset. |
Pyruvate Dehydrogenase Complex Deficiency Disease Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pyruvate Dehydrogenase Complex Deficiency Disease from the curated CTD Gene-Disease Associations dataset. |
Ataxia with vitamin E deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Ataxia with vitamin E deficiency from the curated CTD Gene-Disease Associations dataset. |
Aromatic amino acid decarboxylase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aromatic amino acid decarboxylase deficiency from the curated CTD Gene-Disease Associations dataset. |
Factor X Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Factor X Deficiency from the curated CTD Gene-Disease Associations dataset. |
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 from the curated CTD Gene-Disease Associations dataset. |
Holocarboxylase Synthetase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset. |
N-acetyl glutamate synthetase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset. |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 from the curated CTD Gene-Disease Associations dataset. |
Dimethylglycine Dehydrogenase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Dimethylglycine Dehydrogenase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 1 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 1 from the curated CTD Gene-Disease Associations dataset. |
Pituitary Hormone Deficiency, Combined, 2 Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Pituitary Hormone Deficiency, Combined, 2 from the curated CTD Gene-Disease Associations dataset. |
Trehalase Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Trehalase Deficiency from the curated CTD Gene-Disease Associations dataset. |
Guanidinoacetate methyltransferase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Guanidinoacetate methyltransferase deficiency from the curated CTD Gene-Disease Associations dataset. |
Aminoacylase 1 deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Aminoacylase 1 deficiency from the curated CTD Gene-Disease Associations dataset. |
Antithrombin III Deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Antithrombin III Deficiency from the curated CTD Gene-Disease Associations dataset. |
Phosphoenolpyruvate carboxykinase deficiency Gene SetFrom CTD Gene-Disease Associations genes/proteins associated with the disease Phosphoenolpyruvate carboxykinase deficiency from the curated CTD Gene-Disease Associations dataset. |