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Entry Name Description Category Pathway Gene
H00047 Gallbladder cancer ... uncommon neoplasm, however its prognosis is poor with less than a 5% 5-year survival rate. There are considerable geographic differences in its incidence and etiology. Two main pathways of GBC pathogenesis have ... Cancer p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (mutation) [HSA:1029] [KO:K06621]
K-ras (mutation) [HSA:3845] [KO:K07827]
APC (mutation) [HSA:324] [KO:K02085]
H00146 Alpha-N-acetylgalactosaminidase deficiency ... disease, is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment. Type 3 is an intermediate disorder with mild-to-moderate neurologic manifestations. Inherited metabolic disorder, Lysosomal disease NAGA [HSA:4668] [KO:K01204]
H00182 Cystathioninuria ... deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria may have mild to moderate hyperhomocysteinemia. Inherited metabolic disorder CTH [HSA:1491] [KO:K01758]
H00205 Peroxisome biogenesis disorder ... hepatomegaly, and chondrodysplasia punctata. The patients of NALD and IRD have similar symptoms, but they survive considerably longer than ZS. NALD is the intermediate form and IRD is the mildest form. Inherited metabolic disorder, Peroxisomal disease (PBD1A/1B) PEX1 [HSA:5189] [KO:K13338]
(PBD2A/2B) PEX5 [HSA:5830] [KO:K13342]
(PBD3A/3B) PEX12 [HSA:5193] [KO:K13345]
(PBD4A/4B) PEX6 [HSA:5190] [KO:K13339]
(PBD5A/5B) PEX2 [HSA:5828] [KO:K06664]
(PBD6A/6B) PEX10 [HSA:5192] [KO:K13346]
(PBD7A/7B) PEX26 [HSA:55670] [KO:K13340]
(PBD8A/8B) PEX16 [HSA:9409] [KO:K13335]
(PBD9B) PEX7 [HSA:5191] [KO:K13341]
(PBD10A) PEX3 [HSA:8504] [KO:K13336]
(PBD11A/11B) PEX13 [HSA:5194] [KO:K13344]
(PBD12A) PEX19 [HSA:5824] [KO:K13337]
(PBD13A) PEX14 [HSA:5195] [KO:K13343]
(PBD14B) PEX11B [HSA:8799] [KO:K13352]
H00245 Calcium sensing receptor (CASR) related disease ... hyperparathyroid bone disease. Gain-of-function mutations are responsible for autosomal dominant hypocalcemia (ADH) that characterized by seizures in infancy, moderate hypocalcaemia and, absolute hypercalciuria. Inherited metabolic disorder CASR [HSA:846] [KO:K04612]
H00305 Chancroid ... genito-ulcerative disease accompanied by inguinal lymphadenitis that is endemic in sub-Saharan Africa. It has generated considerable interest because it is associated as a co-factor for HIV transmission. Bacterial infectious disease
H00416 Omsk hemorrhagic fever ... Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic manifestations. Dermacentor reticulatus ticks are the main vector of Omsk ... Viral infectious disease
H00523 Noonan syndrome and related disorders ... distinctive facial dysmorphic features, and congenital heart defects and related disorders show considerable overlapping phenotypes with Noonan syndrome. These disorders are caused by germline mutations ... Congenital malformation (NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5/LPRD2) RAF1 [HSA:5894] [KO:K04366]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
(CS) HRAS [HSA:3265] [KO:K02833]
(NFNS) NF1 [HSA:4763] [KO:K08052]
(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
(CBL) CBL [HSA:867] [KO:K04707]
H00597 Snyder-Robinson syndrome Snyder-Robinson syndrome (SRS) is an X-linked recessive disease which causes mild-to-moderate mental retardation, osteoporosis, facial asymmetry, thin habitus, hypotonia, and a nonspecific movement disorder ... Congenital malformation SMS [HSA:6611] [KO:K00802]
H00666 Peutz-Jeghers syndrome ... especially of the vermilion border of the lips, are seen in almost all patients. PJS patients have a considerably increased risk of developing intestinal malignancies. The only known cause for PJS is STK11 mutation Digestive system disease STK11 [HSA:6794] [KO:K07298]
H00700 Centronuclear myopathy ... phenotype, caused by mutations in the MTM1 gene; the classical autosomal dominant (AD) forms with mild, moderate or severe phenotypes caused by mutations in the DNM2 gene; and an autosomal recessive (AR) form ... Nervous system disease; Musculoskeletal disease (CNMX) MTM1 [HSA:4534] [KO:K01108]
(CNM1) DNM2 [HSA:1785] [KO:K23484]
(CNM2) BIN1 [HSA:274] [KO:K12562]
(CNM3) MYF6 [HSA:4618] [KO:K18485]
(CNM4) CCDC78 [HSA:124093] [KO:K23693]
(CNM5) SPEG [HSA:10290] [KO:K08809]
(CNM6) MAP3K20 [HSA:51776] [KO:K04424]
H00889 Lujan-Fryns syndrome
X-linked mental retardation with Marfanoid habitus 		... palate, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioral aberrations and dysgenesis of the corpus callosum. Congenital malformation MED12 [HSA:9968] [KO:K15162]
H00890 Azoospermia ... nonobstructive azoospermia caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due ... Reproductive system disease (SPGFY2) USP9Y [HSA:8287] [KO:K11840]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(OAZON) CLDN2 [HSA:9075] [KO:K06087]
H00973 Bradyopsia ... luminance levels, photophobia, and difficulties seeing moving objects. Visual acuity is normal to moderately reduced in the affected individuals. Recessive mutations have been reported in the genes encoding ... Nervous system disease (PERRS1) RGS9 [HSA:8787] [KO:K13765]
(PERRS2) RGS9BP [HSA:388531] [KO:K25405]
H01106 Plasminogen activator inhibitor type 1 deficiency ... coagulation system that down-regulates fibrinolysis in the circulation. Affected individuals exhibit mild to moderate bleeding symptoms, including epistaxis, menorrhagia, and delayed bleeding after trauma or surgical ... Hematologic disease PAI1 [HSA:5054] [KO:K03982]
H01146 Aminoacylase 1 deficiency ... accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay of psychomotor development and moderate mental retardation have been reported. Inherited metabolic disorder ACY1 [HSA:95] [KO:K14677]
H01235 Bleeding disorder platelet-type Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these ... Hematologic disease (BDPLT5/QPD) PLAU [HSA:5328] [KO:K01348]
(BDPLT8) P2RY12 [HSA:64805] [KO:K04298]
(BDPLT11) GP6 [HSA:51206] [KO:K06264]
(BDPLT13) TBXA2R [HSA:6915] [KO:K04264]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT17) GFI1B [HSA:8328] [KO:K09223]
(BDPLT18) RASGRP2 [HSA:10235] [KO:K12361]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT20) SLFN14 [HSA:342618] [KO:K24445]
(BDPLT21) FLI1 [HSA:2313] [KO:K09436]
(BDPLT22) EPHB2 [HSA:2048] [KO:K05111]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(BDPLT25) TPM4 [HSA:7171] [KO:K10375]
ITGA2 [HSA:3673] [KO:K06481]
H01254 Congenital prothrombin deficiency Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated ... Hematologic disease F2 [HSA:2147] [KO:K01313]
H01378 Bosch-Boonstra optic atrophy syndrome Bosch-Boonstra optic atrophy syndrome is an autosomal dominant disorder characterized by mild to moderate intellectual impairment and optic atrophy. Heterozygous mutations in the NR2F1 gene have been associated ... Nervous system disease NR2F1 [HSA:7025] [KO:K08547]
H01420 Pharyngoconjunctival fever ... comprises fever, pharyngitis, rhinitis, cervical adenopathies and bulbar and palpebral conjunctivitis with moderate follicular reaction which can last for 3-5 days. PCF associated ocular inflammation begins unilateral ... Viral infectious disease
H01495 Meniere disease ... tinnitus, and aural fullness. Prevailing theories on its pathogenesis point to endolymphatic hydrops as one derangement responsible for producing dysfunction within the cochlea and peripheral vestibular apparatus ... Nervous system disease
H01529 Avascular necrosis of femoral head
Osteonecrosis of the femoral head 		... manifestations of ANFH, including pain on exertion, limping gait, and discrepancy in leg length, cause considerable disability. The etiology of ANFH is unknown, but previous studies have indicated that heritable ... Musculoskeletal disease (ANFH1) COL2A1 [HSA:1280] [KO:K19719]
(ANFH2) TRPV4 [HSA:59341] [KO:K04973]
SERPINE1 [HSA:5054] [KO:K03982]
VEGFA [HSA:7422] [KO:K05448]
NOS3 [HSA:4846] [KO:K13242]
ABCB1 [HSA:5243] [KO:K05658]
H01624 Postherpetic neuralgia ... zoster (HZ) presents as a rash of 2-3 weeks duration in immunocompetent patients that is accompanied by moderate or severe pain. In some patients, pain does not resolve when the rash heals but continues for ... Viral infectious disease
H01641 Dry eye disease
Keratoconjunctivitis sicca 		... treat severe hyposecretory dry eye. The benefit of long-term topical anti-inflammatory treatment of moderate or severe dry eye disease with corticosteroids or cyclosporine A eye drops has been documented ... Nervous system disease
H01653 Bipolar disorder
Manic depressive illness 		... mania or hypomania and define the patient's mood state, because the therapeutic approach differs considerably for hypomania, mania, depression, and euthymia. While effective pharmacological treatments exist ... Mental and behavioural disorder (MAFD7) XBP1 [HSA:7494] [KO:K09027]
H01661 Xanthoma
Xanthomatosis 		... by the mechanism of phagocytosis. They are seen in several lipidoses and are usually indicative of a derangement in lipoprotein metabolism, in particular familial hypercholesterolemia. Prevention of xanthomas ... Skin disease; Inherited metabolic disorder
H01686 Idiopathic portal hypertension
Non-cirrhotic portal fibrosis
Banti syndrome 		... principal pathologic changes of IPH are devastation of the intrahepatic terminal portal radicles with considerable portal fibrosis and secondary atrophy of the liver parenchyma that follows portal thrombosis ... Digestive system disease
H01723 Deep vein thrombosis ... and acquired risk factors. The genetic risk factors can be subdivided into those that are strong, moderate and weak. Strong risk factors are deficiencies of antithrombin, protein C and protein S. Moderately ... Hematologic disease SERPINC1 [HSA:462] [KO:K03911]
PROC [HSA:5624] [KO:K01344]
PROS1 [HSA:5627] [KO:K03908]
H01740 Macrothrombocytopenia ... sometimes resulting in abnormal bleeding. The clinical presentations of MTP-affected individuals vary considerably and range from no symptoms to a severe bleeding tendency. MTP-causing mutations have been reported ... Hematologic disease (MATINS) MYH9 [HSA:4627] [KO:K10352]
(BSS) GP1BA [HSA:2811] [KO:K06261]
(BSS) GP1BB [HSA:2812] [KO:K06262]
(BSS) GP9 [HSA:2815] [KO:K06263]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(STSL1) ABCG8 [HSA:64241] [KO:K05684]
(STSL2) ABCG5 [HSA:64240] [KO:K05683]
(MACTHC1) TUBB1 [HSA:81027] [KO:K07375]
(MACTHC2) TUBA8 [HSA:51807] [KO:K07374]
GATA1 [HSA:2623] [KO:K09182]
VWF [HSA:7450] [KO:K03900]
DIAPH1 [HSA:1729] [KO:K05740]
H01760 Hepatic glycogen storage disease ... hepatomegaly and growth retardation. GSD VI and IX are caused by a deficiency of the liver phosphorylase and phosphorylase kinase system, and with usually moderate symptoms which manifest mainly in childhood. 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]
H01831 Ring chromosome 20 syndrome Ring chromosome 20 syndrome is a chromosomal disorder that is characterized by mild to moderate intellectual disability and epilepsy, in the absence of significant diagnostic dysmorphic features. In most ... Chromosomal abnormality
H01876 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome
Chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome 		... eye problems including chorioretinopathy, congenital lymphoedema of the lower limbs, and mild-to-moderate intellectual disability. Historically, MCLMR was divided into two distinct entities: microcephaly ... Congenital malformation KIF11 [HSA:3832] [KO:K10398]
H01880 Autosomal recessive microcephaly and chorioretinopathy ... microcephaly ranges from mild to severe and has variable impact on cognitive performance, ranging from moderate developmental delay to normal intelligence. The features of the visual impairment in MCCRP patients ... Congenital malformation (MCCRP1) TUBGCP6 [HSA:85378] [KO:K16573]
(MCCRP2) PLK4 [HSA:10733] [KO:K08863]
(MCCRP3) TUBGCP4 [HSA:27229] [KO:K16571]
H01887 3MC syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome 		... disorders: Malpuech syndrome, Carnevale syndrome, Michels syndrome, and Mingarelli syndrome. There is considerable overlap between them, which have similarities in facial appearance, leading to the suggestion ... Congenital malformation (3MC1) MASP1 [HSA:5648] [KO:K03992]
(3MC2) COLEC11 [HSA:78989] [KO:K10066]
(3MC3) COLEC10 [HSA:10584] [KO:K10065]
H01895 Attention deficit hyperactivity disorder (ADHD) ... genetically complex disorder characterized by multifactorial inheritance involving numerous genes of moderate effect. Reports implicate variants of genes important for the synthesis, uptake, transport and ... Mental and behavioural disorder (ADHD) DRD5 [HSA:1816] [KO:K05840]
(ADHD) DRD4 [HSA:1815] [KO:K04147]
(ADHD7) TPH2 [HSA:121278] [KO:K00502]
(ADHD8) CDH2 [HSA:1000] [KO:K06736]
H01899 Dyslexia ... decade. However, effects of individual genetic variations on dyslexia-associated deficits are only moderate. At the brain level, dyslexia is associated with aberrant structure and function, particularly ... Mental and behavioural disorder (DYX1) DNAAF4 [HSA:161582] [KO:K19758]
(DYX2) AAVR [HSA:9856] [KO:K24403]
H01920 Partington syndrome ... syndrome, also known as Partington X-linked mental retardation syndrome (PRTS), is characterized by moderate to severe mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow ... Nervous system disease ARX [HSA:170302] [KO:K09452]
H01928 Smith-Kingsmore syndrome
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 		... SKS are intellectual disability (ID), developmental delay, megalencephaly, and seizures. There is moderate clinical variability, ranging from patients with macrocephaly, mild ID, and no convulsions, to ... Congenital malformation MTOR [HSA:2475] [KO:K07203]
H01978 Dehydrated hereditary stomatocytosis
Hereditary xerocytosis 		... dominant congenital disorder associated with erythrocyte dehydration clinically manifest as mild to moderate hemolytic anemia. Affected red cells are characterized by a nonspecific cation leak of the red ... Cardiovascular disease (DHS1) PIEZO1 [HSA:9780] [KO:K22128]
(DHS2) KCNN4 [HSA:3783] [KO:K04945]
H02092 von Willebrand disease ... characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate reduction in functionally normal VWF; type 2 VWD involves the expression of functionally abnormal ... Hematologic disease VWF [HSA:7450] [KO:K03900]
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