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Entry Name Description Category Pathway Gene
H02534 Y-linked spermatogenic failure The important role of the human Y chromosome in the causation of male infertility is increasingly recognized. The Y chromosome harbors a number of genes essential for testis development and function. Reproductive system disease USP9Y [HSA:8287] [KO:K11840]
BPY2 [HSA:9083] [KO:K26999]
CDY1 [HSA:9085] [KO:K00653]
DAZ1 [HSA:1617] [KO:K24980]
DAZ2 [HSA:57055] [KO:K24980]
DDX3Y [HSA:8653] [KO:K17642]
PRY [HSA:9081] [KO:K27449]
PRY2 [HSA:442862] [KO:K27449]
RBMY1A1 [HSA:5940] [KO:K25090]
H02536 Infection-induced acute encephalopathy ... factors play an important role in the aetiology of IIAE. For example, herpes simplex encephalitis (HSE) has been linked to defects in type I interferon production downstream of Toll-like receptor (TLR)3. Nervous system disease; Infectious disease (IIAE1) UNC93B1 [HSA:81622] [KO:K26150]
(IIAE2) TLR3 [HSA:7098] [KO:K05401]
(IIAE3) RANBP2 [HSA:5903] [KO:K12172]
(IIAE4) CPT2 [HSA:1376] [KO:K08766]
(IIAE5) TRAF3 [HSA:7187] [KO:K03174]
(IIAE6) TICAM1 [HSA:148022] [KO:K05842]
(IIAE7) IRF3 [HSA:3661] [KO:K05411]
(IIAE8) TBK1 [HSA:29110] [KO:K05410]
(IIAE9) NUP214 [HSA:8021] [KO:K14317]
(IIAE10) SNORA31 [HSA:677814] [KO:K26336]
(IIAE11) DBR1 [HSA:51163] [KO:K18328]
(IIAE12) RNH1 [HSA:6050] [KO:K16634]
H02541 Juvenile myelomonocytic leukemia ... hematopoietic disorder of early childhood with features characteristic of both myelodysplastic and myeloproliferative disorders. Recent studies have shown that abnormal proliferation is due to aberrant signal transduction ... Cancer PTPN11 [HSA:5781] [KO:K07293]
ARHGAP26 [HSA:23092] [KO:K20071]
CBL [HSA:867] [KO:K04707]
NF1 [HSA:4763] [KO:K08052]
NRAS [HSA:4893] [KO:K07828]
KRAS [HSA:3845] [KO:K07827]
H02543 Acromesomelic dysplasia ... characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations in four genes (GDF5, NPR2, BMPR1B, and PRKG2) have been reported to cause different forms of AMD. Congenital malformation (AMD1) NPR2 [HSA:4882] [KO:K12324]
(AMD2) GDF5 [HSA:8200] [KO:K04664]
(AMD3) BMPR1B [HSA:658] [KO:K13578]
(AMD4) PRKG2 [HSA:5593] [KO:K19477]
H02561 Familial autoinflammatory syndrome with or without immunodeficiency ... by mutations in the SOCS1 gene. Patients have autoimmune cytopenia and organ-specific autoimmunity. Some patients may have symptoms of systemic lupus erythematosus [DS: H00080], or lymphoproliferation. Immune system disease SOCS1 [HSA:8651] [KO:K04694]
H02584 Ferguson-Bonni neurodevelopmental syndrome Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive intellectual disability syndrome caused by mutations in ANAPC7. ANAPC7 encodes APC7, a core component of the E3 ubiquitin ligase ... Congenital malformation ANAPC7 [HSA:51434] [KO:K03354]
H02590 Acute febrile neutrophilic dermatosis
Pyrin-associated autoinflammatory disease
Sweet syndrome 		Acute febrile neutrophilic dermatosis (AFND), also referred to as pyrin-associated autoinflammatory disease (PAAND), is an autosomal dominant autoinflammatory disorder characterized by fever and arthritis ... Immune system disease MEFV [HSA:4210] [KO:K12803]
H02593 Chronic mucocutaneous ulceration ... ulceration (CMCU) is characterized by oral and gastrointestinal ulcerations, cytopenias, and lymphoproliferative disease. It has been reported that a heterozygous mutation in RELA, encoding the NF-kB subunit ... Immune system disease RELA [HSA:5970] [KO:K04735]
H02594 Congenital facial palsy with ptosis and velopharyngeal dysfunction ... gene encoding a class V tubulin. Tubulins form microtubules, which are essential for the cytoskeleton and thereby for cell division, differentiation and migration as well as intracellular trafficking. Nervous system disease TUBB6 [HSA:84617] [KO:K07375]
H02596 Disorders of carnitine transport and the carnitine cycle Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Disorders of carnitine transport and the carnitine cycle are congenital defects of enzymes ... Inherited metabolic disorder CPT1A [HSA:1374] [KO:K08765]
CPT2 [HSA:1376] [KO:K08766]
SLC25A20 [HSA:788] [KO:K15109]
SLC22A5 [HSA:6584] [KO:K08202]
H02604 Chromosome 1q21.1 duplication syndrome ... deletions or duplications exhibit consistent deficits on motor and cognitive functioning and abnormalities in head circumference. Increased prevalence of macrocephaly is observed in the duplication carriers. Chromosomal abnormality
H02605 Congenital pulmonary venous stenosis Congenital pulmonary venous stenosis is a rare condition with fibromyxoid intimal proliferation leading to obstruction of the large pulmonary veins and of blood flow from the lungs to the left atrium. ... Congenital malformation
H02608 Autoinflammatory-pancytopenia syndrome ... autosomal recessive disorder characterized by variably demonstrating severe neonatal anemia, membranoproliferative glomerulonephritis, liver fibrosis, deforming arthropathy, and increased anti-DNA antibodies ... Immune system disease DNASE2 [HSA:1777] [KO:K01158]
H02611 Turnpenny-Fry syndrome ... been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification, and chromatin remodeling via polycomb repressive complex 1 (PRC1). Congenital malformation PCGF2 [HSA:7703] [KO:K11460]
H02613 Brunet-Wagner neurodevelopmental syndrome ... variants cause this syndrome. RBL2 is the main RB family member that binds E2F4 and functions as a key regulator of cell division. RBL2 is also involved in neuronal differentiation and neural survival. Congenital malformation RBL2 [HSA:5934] [KO:K16332]
H02618 Developmental delay with variable intellectual disability and dysmorphic facies ... disability and dysmorphic facies (DIDDF) is a neurodevelopmental syndrome caused by mutations in JARID2. JARID2, which is expressed in human neurons, is a regulator of histone methyltransferase complexes. Congenital malformation JARID2 [HSA:3720] [KO:K11478]
H02624 Tumor predisposition syndrome Tumor predisposition syndrome (TPDS) is conferring an increased risk of hereditary, early-onset cancers; predominantly uveal melanoma, malignant mesothelioma, renal cell carcinoma, and BAP1-inactivated ... Cancer (TPDS1) BAP1 [HSA:8314] [KO:K08588]
(TPDS2) MBD4 [HSA:8930] [KO:K10801]
(TPDS3) POT1 [HSA:25913] [KO:K11109]
(TPDS4) CHEK2 [HSA:11200] [KO:K06641]
H02633 Beck-Fahrner syndrome ... been reported that mutations in TET3 cause this disease. TET3 is a methylcytosine dioxygenase that initiates DNA demethylation during early zygote formation, embryogenesis, and neuronal differentiation. Congenital malformation TET3 [HSA:200424] [KO:K24309]
H02643 Lipoyltransferase 1 deficiency Lipoyltransferase 1 deficiency (LIPT1D) is a fatal disease associated with encephalopathy and pulmonary hypertension. Mutations in LIPT1 gene cause this disease. LIPT1 encodes a mitochondrial lipoyltransferase ... Inherited metabolic disorder LIPT1 [HSA:51601] [KO:K10105]
H02651 Lessel-Kreienkamp syndrome ... Argonaute family of proteins. AGO2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Congenital malformation AGO2 [HSA:27161] [KO:K11593]
H02664 Joint contracture, osteochondromas, and B-cell lymphoma ... caused by complete deficiency of nuclear factor of activated T cells 1 (NFAT1). NFAT1 is encoded by NFATC2, and mediates calcium-calcineurin signals that drive cell activation, proliferation, and survival. Cancer NFATC2 [HSA:4773] [KO:K17332]
H02670 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay ... features resembling a mitochondrial cytopathy. SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs. Hematologic disease TRNT1 [HSA:51095] [KO:K00974]
H02682 Nizon-Isidor syndrome ... kinase module, which is one of the four subcomplexes of the mediator complex. Mediator complex is a key regulator of gene expression involved in cell growth, homeostasis, development, and differentiation. Mental and behavioural disorder MED12L [HSA:116931] [KO:K15162]
H02684 Mitochondrial progressive myopathy with congenital cataract and developmental delay ... and developmental delay (MPMCD) is a rare mitochondrial encephalomyopathy caused by mutations in the GFER gene. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural ... Nervous system disease GFER [HSA:2671] [KO:K17783]
H02690 Structural heart defects and renal anomalies syndrome ... that mutations in TMEM260 cause this disease. TMEM260 encodes a novel protein-specific O-mannosyltransferase that selectively glycosylates a common protein domain shared among cMET, RON, and plexin receptors Inherited metabolic disorder TMEM260 [HSA:54916] [KO:K27244]
H02709 Neurodevelopmental disorder with aminoacyl-tRNA synthetase defect ... an evolutionarily ancient family of enzymes that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino acid matching the anticodon triplet of the tRNA. To date, some ... Congenital malformation (NEDMAS) SARS1 [HSA:6301] [KO:K01875]
(NDMSCA) VARS1 [HSA:7407] [KO:K01873]
(NEDMILEG) NARS1 [HSA:4677] [KO:K01893]
(NEMMLAS) WARS2 [HSA:10352] [KO:K01867]
(NEDMSBA) WARS1 [HSA:7453] [KO:K01867]
H02714 Tessadori-Bicknell-van Haaften neurodevelopmental syndrome ... are fourteen canonical histone H4 genes in the human genome. At a nucleotide level, all genes are different, but together they encode an identical protein. Transcription of these genes is independently ... 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]
H02716 Becker nevus syndrome ... nevus showing circumscribed hyperpigmentation with hypertrichosis, and developmental abnormalities of different organ systems. It has been identified that mutations in ACTB, encoding for beta-actin, are associated ... Congenital malformation ACTB [HSA:60] [KO:K05692]
H02723 Macrocephaly/autism syndrome Macrocephaly/autism syndrome refers to a subset of individuals within the autism spectrum with extreme macrocephaly or head circumference more than two standard deviations above the mean. The association ... Congenital malformation PTEN [HSA:5728] [KO:K01110]
H02729 Ain-Naz type of dysostosis multiplex ... dysostosis multiplex (DMAN) is a severe inherited skeletal dysplasia which resembles GlcNAc-1-phosphotransferase (GNPT) deficiency [DS:H00143]. It has been reported that mutations in LYSET/TMEM251 cause DMAN ... Congenital malformation LYSET [HSA:26175] [KO:K26747]
H02733 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies ... novel autosomal recessive multisystem syndrome. It has been reported that a ZPR1 mutation is associated with GKAF. ZPR1 encodes a regulatory protein involved in cell proliferation and signal transduction. Congenital malformation ZPR1 [HSA:8882] [KO:K06874]
H02744 Neurofacioskeletal syndrome with or without renal agenesis ... HS2ST1 cause this syndrome. HS2ST1 is one of several specialized enzymes required for heparan sulfate synthesis and catalyzes the transfer of the sulfate groups to the sugar moiety of heparan sulfate. Congenital malformation HS2ST1 [HSA:9653] [KO:K02513]
H02750 Glutathionuria ... of moderate mental retardation, behavioral disturbance, and seizures. GGT1 encodes gamma-glutamyltransferase, the enzyme that cleaves the gamma-glutamyl bond of glutathione to produce cysteinylglycine and ... Inherited metabolic disorder GGT1 [HSA:2678] [KO:K18592]
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]
H02769 Tolchin-Le Caignec syndrome ... this syndrome. SOX6 belongs to a family of SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. Congenital malformation SOX6 [HSA:55553] [KO:K09269]
H02770 Early-onset seizures with neurodegeneration and brain calcifications ... mutations in NRROS cause this syndrome. NRROS is a leucine-rich repeat-containing transmembrane protein, preferentially expressed in myeloid cells. NRROS is also implicated in osteoclast and neural cell differentiation ... Nervous system disease NRROS [HSA:375387] [KO:K26317]
H02771 Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy ... onset mitochondrial myopathy. It has been reported that mutations in FDX2 cause this disease. FDX2 encodes a ubiquitously expressed mitochondrial ferredoxin essential for early Fe-S cluster biogenesis. Nervous system disease FDX2 [HSA:112812] [KO:K22071]
H02775 Visual impairment and progressive phthisis bulbi ... mutations in MARK3 cause this disease. MARK3, a member of the MARK family, regulates several essential pathways, including the cell cycle, ciliated cell differentiation, and osteoclast differentiation. Nervous system disease MARK3 [HSA:4140] [KO:K08798]
H02803 Neurodevelopmental disorder with histone modification defect Epigenetic regulatory mechanisms, including histone modification, play critical roles in cell differentiation and organ development through spatial and temporal gene regulation. Many neurodevelopmental ... Congenital malformation (SHAPNS) ASXL2 [HSA:55252] [KO:K11471]
(ODLURO) KMT2E [HSA:55904] [KO:K09189]
(NEDCHF) HDAC4 [HSA:9759] [KO:K11406]
(NEDDFAC) SUPT16H [HSA:11198] [KO:K25639]
(NEDSID) SETD1A [HSA:9739] [KO:K11422]
(NECRC) ZMYM2 [HSA:7750] [KO:K24675]
(NEDFASB) KAT5 [HSA:10524] [KO:K11304]
(NEDSST) KDM6B [HSA:23135] [KO:K11448]
(NEDEHC) KDM5A [HSA:5927] [KO:K11446]
(NEDDFL) BPTF [HSA:2186] [KO:K11728]
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