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Entry | Name | Description | Category | Pathway | Gene |
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H01665 | Primary peritoneal carcinoma | Female primary peritoneal carcinoma (PPC) has the characteristic of diffuse involvement of the peritoneum by papillary carcinoma in the absence of an obvious primary site and grossly normal ovaries, or ... | Cancer | BRCA1 (mutation) [HSA:672] [KO:K10605] | |
H01667 | Medulloblastoma | Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently ... | Cancer |
PTCH1 [HSA:5727] [KO:K06225] PTCH2 [HSA:8643] [KO:K11101] ELP1 [HSA:8518] [KO:K11373] SUFU [HSA:51684] [KO:K06229] SMO [HSA:6608] [KO:K06226] AXIN1 [HSA:8312] [KO:K02157] AXIN2 [HSA:8313] [KO:K04385] APC [HSA:324 10297] [KO:K02085] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] NF2 [HSA:4771] [KO:K16684] MEN1 [HSA:4221] [KO:K14970] KDM6A [HSA:7403] [KO:K11447] MYC (amplification) [HSA:4609] [KO:K04377] OTX2 (amplification) [HSA:5015] [KO:K18490] TERT (amplification) [HSA:7015] [KO:K11126] MDM2 (amplification) [HSA:4193] [KO:K06643] |
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H01725 | Primary immunodeficiency disease | Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many ... | Immune system disease | hsa05340 Primary immunodeficiency |
(IMD101) POLR3F [HSA:10621] [KO:K03025] (IMD102) SASH3 [HSA:54440] [KO:K23706] (IMD109) TNFRSF9 [HSA:3604] [KO:K05146] (IMD111/HATIS) DPP9 [HSA:91039] [KO:K08656] (IMD113) ARPC5 [HSA:10092] [KO:K05754] (IMD114) SLC19A1 [HSA:6573] [KO:K14609] (IMD118) MCTS1 [HSA:28985] [KO:K07575] |
H01734 | Rothmund-Thomson syndrome | ... short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts. Mutations in ANAPC1, encoding a subunit of the anaphase-promoting complex, cause RTS1. RTS type 2, which is defined by ... | Congenital malformation |
(RTS1) ANAPC1 [HSA:64682] [KO:K03348] (RTS2) RECQL4 [HSA:9401] [KO:K10730] (RTS3) CRIPT [HSA:9419] [KO:K24826] (RTS4) DNA2 [HSA:1763] [KO:K10742] |
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H01739 | Polycystic ovary syndrome | Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by elevated androgen levels, menstrual irregularities, and/or small cysts on one or both ovaries. Clinical manifestations ... | Endocrine and metabolic disease | ||
H01760 | Hepatic glycogen storage disease | Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The ... | Inherited metabolic disorder |
(GSB Ia) G6PC [HSA:2538] [KO:K01084] (GSB Ib) SLC37A4 [HSA:2542] [KO:K08171] (GSB IIIa/b) AGL [HSA:178] [KO:K01196] (GSB IV) GBE1 [HSA:2632] [KO:K00700] (GSB VI) PYGL [HSA:5836] [KO:K00688] (GSB IX) PHKA2 [HSA:5256] [KO:K07190] (GSB IXb) PHKB [HSA:5257] [KO:K07190] (GSB IXc) PHKG2 [HSA:5261] [KO:K00871] (GSB 0a) GYS2 [HSA:2998] [KO:K00693] |
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H01763 | Porphyria | ... ALA-dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently, a new type of erythroid ... | Inherited metabolic disorder |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP, PCT) UROD [HSA:7389] [KO:K01599] (ADP) ALAD [HSA:210] [KO:K01698] (AIP) HMBS [HSA:3145] [KO:K01749] (HCP) CPOX [HSA:1371] [KO:K00228] (VP) PPOX [HSA:5498] [KO:K00231] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
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H01775 |
PCDH19-related epilepsy syndrome Early infantile epileptic encephalopathy 9 Epilepsy with mental retardation limited to females |
PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures during infancy, which is often combined with intellectual disability or autistic features manifested exclusively ... | Nervous system disease | PCDH19 [HSA:57526] [KO:K16499] | |
H01799 |
Vibratory urticaria Vibratory angioedema |
... pathogenesis. A missense variant in ADGRE2 gene has been found in families with vibratory urticaria, implicating the encoded adhesion G-protein-coupled receptor (GPCR) as a mechanosensor in mast cells. | Immune system disease; Skin disease | ADGRE2 [HSA:30817] [KO:K08443] | |
H01803 | Pulmonary atresia with ventricular septal defect | ... pulmonary arteries is provided by a patent arterial duct or by major aorto pulmonary collateral arteries (MAPCAs). Two-thirds of the cases with pulmonary atresia are associated with MAPCAs, which can vary greatly ... | Congenital malformation | ||
H01810 | Congenital myopathy | The congenital myopathies are a group of genetic muscle disorders characterised clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Congenital ... | Nervous system disease; Musculoskeletal disease |
(CMYP1A/1B) RYR1 [HSA:6261] [KO:K04961] (CMYP2A/2B/2C) ACTA1 [HSA:58] [KO:K10354] (CMYP3) SELENON [HSA:57190] [KO:K19874] (CMYP4) TPM3 [HSA:7170] [KO:K09290] (CMYP5) TTN [HSA:7273] [KO:K12567] (CMYP6) MYH2 [HSA:4620] [KO:K24220] (CMYP7) MYH7 [HSA:4625] [KO:K17751] (CMYP8) ACTN2 [HSA:88] [KO:K21073] (CMYP9) FXR1 [HSA:8087] [KO:K15516] (CMYP10A/10B) MEGF10 [HSA:84466] [KO:K24068] (CMYP11) HACD1 [HSA:9200] [KO:K10703] (CMYP12) CNTN1 [HSA:1272] [KO:K06759] (CMYP13) STAC3 [HSA:246329] [KO:K23713] (CMYP14) MYL1 [HSA:4632] [KO:K05738] (CMYP15) TNNC2 [HSA:7125] [KO:K12042] (CMYP16) MYBPC1 [HSA:4604] [KO:K12557] (CMYP17) MYOD1 [HSA:4654] [KO:K09064] (CMYP18) CACNA1S [HSA:779] [KO:K04857] (CMYP19) PAX7 [HSA:5081] [KO:K09381] (CMYP20) RYR3 [HSA:6263] [KO:K04963] (CMYP21) DNAJB4 [HSA:11080] [KO:K09510] (CMYP22A/22B) SCN4A [HSA:6329] [KO:K04837] (CMYP23) TPM2 [HSA:7169] [KO:K10374] (CMYP24) MYPN [HSA:84665] [KO:K22028] (CMND) SPTBN4 [HSA:57731] [KO:K06115] |
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H01821 | Spondylometaphyseal dysplasia with cone-rod dystrophy | ... are uncommon. In 2004, a unique form of SMD associated with cone-rod dystrophy (CRD) was described and defined as SMD-CRD. Loss-of-function mutations in PCYT1A have been reported as the cause of SMD-CRD. | Congenital malformation | PCYT1A [HSA:5130] [KO:K00968] | |
H01866 | Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis | Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH) are rare diseases that are classified as a subgroup of pulmonary arterial hypertension (PAH). PVOD is histologically ... | Cardiovascular disease |
(PVOD1) BMPR2 [HSA:659] [KO:K04671] (PVOD2) EIF2AK4 [HSA:440275] [KO:K16196] |
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H01881 | Complex cortical dysplasia with other brain malformations | Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with ... | Congenital malformation |
(CDCBM1) TUBB3 [HSA:10381] [KO:K07375] (CDCBM2) KIF5C [HSA:3800] [KO:K10396] (CDCBM3) KIF2A [HSA:3796] [KO:K10393] (CDCBM4) TUBG1 [HSA:7283] [KO:K10389] (CDCBM5) TUBB2A [HSA:7280] [KO:K07375] (CDCBM6) TUBB [HSA:203068] [KO:K07375] (CDCBM7) TUBB2B [HSA:347733] [KO:K07375] (CDCBM9) CTNNA2 [HSA:1496] [KO:K05691] (CDCBM10) APC2 [HSA:10297] [KO:K02085] (CDCBM11) KIF26A [HSA:26153] [KO:K10404] (CDCBM12) CAMSAP1 [HSA:157922] [KO:K17493] (CDCBM13) DYNC1H1 [HSA:1778] [KO:K10413] |
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H01891 | Autosomal recessive spinocerebellar ataxias | Autosomal recessive cerebellar ataxias (SCAR) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar and sensory tracts of the spinal cord and ... | Neurodegenerative disease |
(SCAR1/SCAN2) SETX [HSA:23064] [KO:K10706] (SCAR2) PMPCA [HSA:23203] [KO:K01412] (SCAR4) VPS13D [HSA:55187] [KO:K19527] (SCAR7) TPP1 [HSA:1200] [KO:K01279] (SCAR8) SYNE1 [HSA:23345] [KO:K19326] (SCAR9) COQ8A [HSA:56997] [KO:K08869] (SCAR10) ANO10 [HSA:55129] [KO:K19327] (SCAR11) SYT14 [HSA:255928] [KO:K19328] (SCAR12) WWOX [HSA:51741] [KO:K19329] (SCAR13) GRM1 [HSA:2911] [KO:K04603] (SCAR14) SPTBN2 [HSA:6712] [KO:K23932] (SCAR15) RUBCN [HSA:9711] [KO:K19330] (SCAR16) STUB1 [HSA:10273] [KO:K09561] (SCAR17) CWF19L1 [HSA:55280] [KO:K24939] (SCAR18) GRID2 [HSA:2895] [KO:K05207] (SCAR19) SLC9A1 [HSA:6548] [KO:K05742] (SCAR20) SNX14 [HSA:57231] [KO:K17926] (SCAR21) SCYL1 [HSA:57410] [KO:K08876] (SCAR22) VWA3B [HSA:200403] [KO:K24509] (SCAR23) TDP2 [HSA:51567] [KO:K19619] (SCAR24) UBA5 [HSA:79876] [KO:K12164] (SCAR25) ATG5 [HSA:9474] [KO:K08339] (SCAR26) XRCC1 [HSA:7515] [KO:K10803] (SCAR27) GDAP2 [HSA:54834] [KO:K24997] (SCAR28) THG1L [HSA:54974] [KO:K10761] (SCAR29) VPS41 [HSA:27072] [KO:K20184] (SCAR30) PITRM1 [HSA:10531] [KO:K06972] (SCAR31) ATG7 [HSA:10533] [KO:K08337] (SCAR32) PRDX3 [HSA:10935] [KO:K20011] (SCAR33) RNU12 [HSA:267010] (SCAN1) TDP1 [HSA:55775] [KO:K10862] (SCAN3) COA7 [HSA:65260] [KO:K18180] |
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H01894 | Multiple mitochondrial dysfunctions syndrome | Multiple mitochondrial dysfunctions syndrome (MMDS) is a severe autosomal recessive disease with onset in early infancy. Pathogenic variations in genes encoding several components of the Fe-S cluster biogenesis ... | Inherited metabolic disorder, Mitochondrial disease |
(MMDS1) NFU1 [HSA:27247] [KO:K22074] (MMDS2) BOLA3 [HSA:388962] [KO:K22075] (MMDS3) IBA57 [HSA:200205] [KO:K22073] (MMDS4) ISCA2 [HSA:122961] [KO:K22072] (MMDS5) ISCA1 [HSA:81689] [KO:K22063] (MMDS6) PMPCB [HSA:9512] [KO:K17732] (MMDS7) GCSH [HSA:2653] [KO:K02437] |
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H01921 |
MICPCH syndrome Syndromic X-linked mental retardation, Najm type |
Microcephaly with pontine and cerebellar hypoplasia (MICPCH) syndrome is a rare X-linked mental retardation syndrome, generally seen in girls, characterized by severe neurodevelopmental delay, microcephaly ... | Congenital malformation | CASK [HSA:8573] [KO:K06103] | |
H01939 |
Glycogen storage disease type I Von Gierke disease |
Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four ... | Inherited metabolic disorder |
(GSD Ia) G6PC [HSA:2538] [KO:K01084] (GSD Ib/Ic/Id) SLC37A4 [HSA:2542] [KO:K08171] |
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H02014 | Ataxia-telangiectasia-like syndrome | ... Ataxia-telangiectasia (A-T). In contrast to A-T, ATLD patients don't show telangiectasia and immune deficiency. Recently, genetic heterogeneity of ATLD, caused by mutation in the PCNA gene, has been reported. | Immune system disease; Nervous system disease |
(ATLD1) MRE11A [HSA:4361] [KO:K10865] (ATLD2) PCNA [HSA:5111] [KO:K04802] |
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H02035 | Isolated growth hormone deficiency | Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies ... | Endocrine and metabolic disease |
(IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438] (IGHD3) BTK [HSA:695] [KO:K07370] (IGHD4) GHRHR [HSA:2692] [KO:K04584] (IGHD5) RNPC3 [HSA:55599] [KO:K13157] |
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H02036 | Combined pituitary hormone deficiency | Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes ... | Endocrine and metabolic disease |
(CPHD1) POU1F1 [HSA:5449] [KO:K09363] (CPHD2) PROP1 [HSA:5626] [KO:K09327] (CPHD3) LHX3 [HSA:8022] [KO:K09374] (CPHD4) LHX4 [HSA:89884] [KO:K09374] (CPHD5) HESX1 [HSA:8820] [KO:K09354] (CPHD6) OTX2 [HSA:5015] [KO:K18490] (CPHD7) RNPC3 [HSA:55599] [KO:K13157] (CPHD8) ROBO1 [HSA:6091] [KO:K06753] |
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H02049 | Bilateral macronodular adrenal hyperplasia | ... pathway or genes causing a hereditary familial tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH ... | Endocrine and metabolic disease |
ARMC5 [HSA:79798] [KO:K22499] MEN1 [HSA:4221] [KO:K14970] FH [HSA:2271] [KO:K01679] PDE11A [HSA:50940] [KO:K13298] GNAS1 [HSA:2778] [KO:K04632] APC [HSA:324] [KO:K02085] MC2R [HSA:4158] [KO:K04200] PRKACA [HSA:5566] [KO:K04345] |
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H02104 |
Megalocornea X-linked megalocornea |
... intraocular pressure (IOP). It is an important differential diagnosis for primary congenital glaucoma (PCG) [DS:H01203] that leads to a high risk of vision loss and needs a fast diagnostic clarification and ... | Nervous system disease | CHRDL1 [HSA:91851] [KO:K24520] | |
H02105 | Prohormone convertase 1/3 deficiency | Proprotein convertase 1/3 (PC1/3) deficiency is a rare autosomal recessive disorder caused by mutations in the PCSK1 gene. It is associated with early-onset obesity, severe malabsorptive diarrhea, certain ... | Endocrine and metabolic disease | PCSK1 [HSA:5122] [KO:K01359] | |
H02106 | Genetic obesity | Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important ... | Endocrine and metabolic disease |
NR0B2 [HSA:8431] [KO:K08563] SDC3 [HSA:9672] [KO:K16337] POMC [HSA:5443] [KO:K05228] GHRL [HSA:51738] [KO:K05254] PPARG [HSA:5468] [KO:K08530] CARTPT [HSA:9607] [KO:K25453] PPARGC1B [HSA:133522] [KO:K17962] ENPP1 [HSA:5167] [KO:K01513] ADRB2 [HSA:154] [KO:K04142] ADRB3 [HSA:155] [KO:K04143] AGRP [HSA:181] [KO:K05231] UCP1 (polymorphism) [HSA:7350] [KO:K08769] UCP3 [HSA:7352] [KO:K15103] (BMIQ4) UCP2 [HSA:7351] [KO:K15103] (BMIQ9) MC3R [HSA:4159] [KO:K04201] (BMIQ10) FFAR4 [HSA:338557] [KO:K08425] (BMIQ11) SLC6A14 [HSA:11254] [KO:K05047] (BMIQ12) PCSK1 [HSA:5122] [KO:K01359] (BMIQ14) FTO [HSA:79068] [KO:K19469] (BMIQ17) AQP7 [HSA:364] [KO:K08771] (BMIQ18) MRAP2 [HSA:112609] [KO:K25968] (BMIQ19) ADCY3 [HSA:109] [KO:K08043] (BMIQ20) MC4R [HSA:4160] [KO:K04202] |
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H02154 | Omodysplasia | ... craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal dominant form (OMOD2) involving only the upper limbs was later recognized as a separate ... | Congenital malformation |
(OMOD1) GPC6 [HSA:10082] [KO:K08112] (OMOD2) FZD2 [HSA:2535] [KO:K02235] |
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H02301 |
Nephroblastoma Wilms tumor |
Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma ... | Cancer |
(WT1) WT1 [HSA:7490] [KO:K09234] (WT5) POU6F2 [HSA:11281] [KO:K09368] (WT6) REST [HSA:5978] [KO:K09222] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] BRCA2 [HSA:675] [KO:K08775] GPC3 [HSA:2719] [KO:K08109] |
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H02302 | Hepatoblastoma | ... activated often by acquired activating mutations of the beta-catenin (CTNNB1) gene, and less commonly through constitutional mutations of the APC gene or somatic mutations of other genes in the pathway. | Cancer |
CTNNB1 (mutation) [HSA:1499] [KO:K02105] APC (mutation) [HSA:324] [KO:K02085] AXIN2 (mutation) [HSA:8313] [KO:K04385] |
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H02326 |
Keipert syndrome Nasodigitoacoustic syndrome |
... disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease. | Congenital malformation | GPC4 [HSA:2239] [KO:K08110] | |
H02329 | Hepatic lipase deficiency | ... characterized by elevated levels of triglycerides and cholesterol. Some patients have premature cardiovascular disease. Missense mutations in LIPC have been identified to be responsible for this disease. | Inherited metabolic disorder | LIPC [HSA:3990] [KO:K22283] | |
H02356 |
PCWH syndrome Waardenburg-Shah syndrome, neurologic variant |
PCWH syndrome (Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a rare inherited disorder caused by SOX10 mutations. SOX10 regulates the development ... | Nervous system disease | SOX10 [HSA:6663] [KO:K09270] | |
H02394 | Cleft palate, cardiac defects, and mental retardation | Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has ... | Congenital malformation | MEIS2 [HSA:4212] [KO:K16670] | |
H02397 | Neurodevelopmental disorder with movement abnormalities or hypotonia | Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... | Congenital malformation |
(NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704] (NEDBASH) NTNG2 [HSA:84628] [KO:K16359] (NEDIMAE) SYT1 [HSA:6857] [KO:K15290] (NEDHAHM) VAMP2 [HSA:6844] [KO:K13504] (NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768] (NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562] (NEDHYBA) CLCN3 [HSA:1182] [KO:K05012] (NEDDISH) MADD [HSA:8567] [KO:K26162] (NEDCHF) HDAC4 [HSA:9759] [KO:K11406] (NEDEMA) FRMD5 [HSA:84978] [KO:K23969] (NEDHFS) PGM2L1 [HSA:283209] [KO:K11809] (NEDHSS) EIF4A2 [HSA:1974] [KO:K03257] (NEDSTO) TNR [HSA:7143] [KO:K06252] (NEDSIS) CACNA1I [HSA:8911] [KO:K04856] (NEDIHSS) ESAM [HSA:90952] [KO:K06787] (NEDNMS) NRCAM [HSA:4897] [KO:K06756] (NEDRSO) SNAPC4 [HSA:6621] [KO:K09453] (NEDMSF) PUM1 [HSA:9698] [KO:K17943] (NEDHBA) SLC4A10 [HSA:57282] [KO:K13861] (NEDHLSS) CACNA1C [HSA:775] [KO:K04850] (NEDHCAS) PIGK [HSA:10026] [KO:K05290] (NEDDS) SHQ1 [HSA:55164] [KO:K14764] (NEDHYD) ADCY5 [HSA:111] [KO:K08045] (NEDNEH) CACNA1B [HSA:774] [KO:K04849] (NEDHELS) DEAF1 [HSA:10522] [KO:K23041] (NEDHCS) SNIP1 [HSA:79753] [KO:K13108] (NEDPM) ACBD6 [HSA:84320] (NEDHS) OTUD7A [HSA:161725] [KO:K11860] (NEDPBA) PTRHD1 [HSA:391356] [KO:K05969] |
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H02424 | Primary central nervous system lymphoma | Primary central nervous system lymphoma (PCNSL) is an extranodal non-Hodgkin lymphoma (NHL) confined to the brain, leptomeninges, eyes, or spinal cord. Most PCNSLs are diffuse large B-cell lymphoma (DLBCL; ... | Cancer |
MYD88 (mutation) [HSA:4615] [KO:K04729] CD79B (mutation) [HSA:974] [KO:K06507] CARD11 (mutation) [HSA:84433] [KO:K07367] TNFAIP3 (mutation) [HSA:7128] [KO:K11859] HLA-DRB5 (deletion) [HSA:3127] [KO:K06752] CDKN2A (deletion) [HSA:1029] [KO:K06621] |
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H02455 |
Congenital heart defects, hamartomas of tongue, and polysyndactyly Ostravik-Lindemann-Solberg syndrome |
... atrioventricular canal, hamartomas of the tongue, and polysyndactyly. CHDTHP patients with mutations in WDPCP have been identified. WDPCP is a gene that regulates planar cell polarity and ciliogenesis. | Congenital malformation | WDPCP [HSA:51057] [KO:K22863] | |
H02461 | Neurodevelopmental disorder with microcephaly | Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... | Congenital malformation |
(NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304] (NEDMCR) GEMIN4 [HSA:50628] [KO:K13132] (NDMSBA) PLAA [HSA:9373] [KO:K14018] (NEDMIBA) DYNC1I2 [HSA:1781] [KO:K10415] (NEDMABA) SMPD4 [HSA:55627] [KO:K12353] (NEDAHM) SVBP [HSA:374969] [KO:K23357] (NEDMCMS) TMX2 [HSA:51075] [KO:K25112] (NEDMEHM) MTHFS [HSA:10588] [KO:K01934] (NMIHBA) PRUNE1 [HSA:58497] [KO:K01514] (NEDHYMS) ADARB1 [HSA:104] [KO:K13194] (NEDSEBA) EXOC7 [HSA:23265] [KO:K07195] (NEDMISB) EXOC8 [HSA:149371] [KO:K19986] (NEDSOSB) SEC31A [HSA:22872] [KO:K14005] (NEDMSC) VPS50 [HSA:55610] [KO:K23288] (NEDMHS) CPSF3 [HSA:51692] [KO:K14403] (NEDMIMS) CHKA [HSA:1119] [KO:K14156] (NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307] (NEDMVIC) DOHH [HSA:83475] [KO:K06072] (NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096] (NEDMIM) TTI1 [HSA:9675] [KO:K20403] (NEDGS) PCDHGC4 [HSA:56098] [KO:K16497] |
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H02470 | Neurodevelopmental disorder with structural brain abnormalities | Neurodevelopmental disorder (NED) with structural brain abnormalities is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying ... | Congenital malformation |
(NDAGSCW) RAB11B [HSA:9230] [KO:K07905] (NEDBAVC) DHX37 [HSA:57647] [KO:K14780] (NEDCHS) INTS8 [HSA:55656] [KO:K13145] (NEDCAS) BRAT1 [HSA:221927] [KO:K23112] (NEDEHCC) LNPK [HSA:80856] [KO:K23292] (NEDBAS) DLL1 [HSA:28514] [KO:K06051] (NEDSBAS) WDR45B [HSA:56270] [KO:K22991] (NEDSWMA) HPDL [HSA:84842] [KO:K24788] (NEDVIBA) HK1 [HSA:3098] [KO:K00844] (NEDBA) MAPK8IP3 [HSA:23162] [KO:K04436] (NECFM) NACC1 [HSA:112939] [KO:K10486] (NEDMHM) ARHGEF2 [HSA:9181] [KO:K12791] (NEDBASS) PTPN23 [HSA:25930] [KO:K18040] (NEDABA) ODC1 [HSA:4953] [KO:K01581] (NEDESBA) TRAPPC4 [HSA:51399] [KO:K20303] (NEDASB) NOVA2 [HSA:4858] [KO:K14944] (NEDCAM) GEMIN5 [HSA:25929] [KO:K13133] (NEDSCAC) MED27 [HSA:9442] [KO:K15170] (NEDCASB) SHMT2 [HSA:6472] [KO:K00600] (NEDHSB) SPATA5 [HSA:166378] [KO:K14575] (NEDMLHB) TAF8 [HSA:129685] [KO:K14649] (NEDSSBA) NSRP1 [HSA:84081] [KO:K13206] (NEDMLOB) INTS11 [HSA:54973] [KO:K13148] (NEDMSB) PI4K2A [HSA:55361] [KO:K13711] |
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H02472 | Early-onset progressive encephalopathy | Early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS) is caused by mutations in TRAPPC12. Changes in Golgi morphology, membrane trafficking dysfunction, and mitotic delay were reported ... | Nervous system disease |
(PEBAS) TRAPPC12 [HSA:51112] [KO:K20309] (PEERB) TRAPPC2L [HSA:51693] [KO:K20301] |
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H02487 | Diencephalic-mesencephalic junction dysplasia syndrome | Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial ... | Congenital malformation |
(DMJDS1) PCDH12 [HSA:51294] [KO:K16499] (DMJDS2) GSX2 [HSA:170825] [KO:K09310] |
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H02505 | Atherosclerosis | Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority ... | Cardiovascular disease | hsa05417 Lipid and atherosclerosis |
LDLR [HSA:3949] [KO:K12473] APOB [HSA:338] [KO:K14462] PCSK9 [HSA:255738] [KO:K13050] LDLRAP1 [HSA:26119] [KO:K12474] ABCG5 [HSA:64240] [KO:K05683] ABCG8 [HSA:64241] [KO:K05684] LCAT [HSA:3931] [KO:K00650] ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] MEF2A [HSA:4205] [KO:K09260] LRP6 [HSA:4040] [KO:K03068] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |