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Entry Name Description Category Pathway Gene
H02489 Mild encephalopathy with reversible myelin vacuolization ... mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). Mutations in MYRF have been identified in patients. MYRF is a critical transcriptional regulator required for CNS myelination. Nervous system disease MYRF [HSA:745] [KO:K24768]
H02490 Gabriele-de Vries syndrome Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes. Mental and behavioural disorder YY1 [HSA:7528] [KO:K09201]
H02502 Joint laxity, short stature, and myopia ... connective-tissue disease caused by mutations in GZF1. JLSM is characterized by severe myopia and significant articular involvement. GZF1 encodes a transcription factor which is expressed in the eyes and limbs. Congenital malformation GZF1 [HSA:64412] [KO:K22402]
H02516 Alcoholic liver disease ... generation of acetaldehyde, reactive oxygen species (ROS) and ER stress. ROS inhibits key hepatic transcriptional regulators such as AMP-activated protein kinase (AMPK) and peroxisome proliferator-activated ... Digestive system disease hsa04936 Alcoholic liver disease
H02521 Diets-Jongmans syndrome ... dysmorphism. DIJOS is caused by mutations in KDM3B that encodes a histone demethylase. KDM3B is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation. Congenital malformation KDM3B [HSA:51780] [KO:K15601]
H02574 BILU syndrome ... autosomal dominant mutations in TOP2B cause BILU syndrome. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription. Immune system disease TOP2B [HSA:7155] [KO:K03164]
H02612 Radio-Tartaglia syndrome ... mutations have been reported in affected individuals. SPEN encodes a large protein that functions as a transcriptional repressor through interactions with other repressors and chromatin-remodeling complexes. Congenital malformation SPEN [HSA:23013] [KO:K25100]
H02619 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome ... enamel defect syndrome (HADDTS) is caused by a pathogenic CTBP1 missense mutation. CTBP1 is the transcriptional corepressor. The enzymatic constituents of the CTBP1 corepressor complex mediate coordinated ... Congenital malformation CTBP1 [HSA:1487] [KO:K04496]
H02622 Shukla-Vernon syndrome ... dysmorphisms. It has been reported that mutations in BCORL1 are associated with this disease. BCORL1, a transcriptional corepressor, is involved in negative gene regulation through associations with several protein ... Congenital malformation BCORL1 [HSA:63035] [KO:K26199]
H02623 Kury-Isidor syndrome ... caused by rare germline missense BAP1 variants. Nuclear deubiquitinase BAP1 is a core component of multiprotein complexes that promote transcription by reversing the ubiquitination of histone 2A (H2A). Congenital malformation BAP1 [HSA:8314] [KO:K08588]
H02678 External ophthalmoplegia with rib and vertebral anomalies ... reported that loss-of-function mutations in MYF5 cause this disease. MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and is a key regulator of early stages of myogenesis. Musculoskeletal disease MYF5 [HSA:4617] [KO:K18484]
H02680 Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities ... premature death. It has been reported that mutations in MED11 cause this disease. MED11 encodes a subunit of mediator (MED) multisubunit-complex that modulates the activity of the transcriptional machinery. Congenital malformation MED11 [HSA:400569] [KO:K15131]
H02686 Developmental delay with dysmorphic facies and dental anomalies ... anomalies (DEFDA) is a neurodevelopmental disorder associated with SATB1 dysfunction. SATB1 encodes a transcription factor with crucial roles in development and maturation of T cells. Missense variants in the ... Congenital malformation (DEFDA/DHDBV) SATB1 [HSA:6304] [KO:K23225]
H02691 Scalp-ear-nipple syndrome ... and absence of rudimentary nipples and breasts. It has been reported that mutations in KCTD1 cause this disease. KCTD1 inhibits the transactivation of the transcription factor AP-2a via its BTB domain. Congenital malformation KCTD1 [HSA:284252] [KO:K21754]
H02693 Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay ... mutations in NAUROG1 has been reported. NEUROG1 encodes Ngn1 which is a basic helix-loop-helix transcription factor essential for the formation of the proximal cranial sensory ganglia for cranial nerves ... Nervous system disease NEUROG1 [HSA:4762] [KO:K09081]
H02694 Alazami-Yuan syndrome ... autosomal-recessive disorder with Cornelia de Lange syndrome-like features [DS:H00631]. It is caused by homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Congenital malformation TAF6 [HSA:6878] [KO:K03131]
H02714 Tessadori-Bicknell-van Haaften neurodevelopmental syndrome ... At a nucleotide level, all genes are different, but together they encode an identical protein. Transcription of these genes is independently regulated, and differing expression levels are observed during ... Congenital malformation (TEBIVANED1) H4C3 [HSA:8364] [KO:K11254]
(TEBIVANED2) H4C11 [HSA:8363] [KO:K11254]
(TEBIVANED3) H4C5 [HSA:8367] [KO:K11254]
(TEBIVANED4) H4C9 [HSA:8294] [KO:K11254]
H02737 Familial multinodular goiter ... MNG with or without ovarian Sertoli-Leydig cell tumor. DICER1, a member of the RNaseIII family, is involved in the generation of microRNAs, that modulate gene expression at the posttranscriptional level. Endocrine and metabolic disease (MNG1) DICER1 [HSA:23405] [KO:K11592]
H02743 KINSSHIP syndrome ... reported that variants in the degron of AFF3 cause this disease. AFF3 encodes a component of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development Congenital malformation AFF3 [HSA:3899] [KO:K15195]
H02753 Vertebral anomalies and variable endocrine and T-cell dysfunction ... facial dysmorphia, variable developmental delay and endocrine system disorders. TBX2 encodes a T-box transcriptional regulator. T-box family proteins are involved in all stages of embryonic development. Congenital malformation TBX2 [HSA:6909] [KO:K10176]
H02759 Suleiman-El-Hattab syndrome ... loss-of-function mutations in TASP1 cause this syndrome. TASP1 encodes an activator of the histone methyltransferases KMT2A and KMT2D, which are essential for histone methylation and transcription regulation. Congenital malformation TASP1 [HSA:55617] [KO:K08657]
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